PPARG--PAX8

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PPARG PAX8

COSMIC

The fusion gene pair PPARG--PAX8 information is not available in COSMIC database.

ChimerKB

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The fusion gene pair PPARG--PAX8 information is available in CHIMERKB (CHIMERDB 3.0) database.

Fusion_pair5'Gene Junction (Chr/Position/Strand)3'Gene Junction (Chr/Position/Strand)Breakpoint_TypeGenome_BuildDiseaseValidationPMIDGene TypeSource
PPARG_PAX8-/-/ -/-/ - hg18 thyroid carcinoma - 10958784 Receptor; Transcription_Factor OMIM

ChimerPUB

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The fusion gene pair PPARG--PAX8 information is available in CHIMERPUB (CHIMERDB 3.0) database.

Fusion_pairTranslocationPMIDDiseaseValidationGene TypeSentence_highlight
PPARG_PAX8- 12970322thyroid carcinoma FISH;PCR;RT-PCR - In this study, a group of 87 thyroid tumors were analyzed to determine the involvement of the PAX8/PPAR gamma fusion gene in these tumors, and also to determine whether this rearrangement can be used as a diagnostic marker for the differentiation between follicular thyroid carcinoma and adenoma. /// "Our findings suggest that PAX8/PPAR gamma occurs frequently in follicular thyroid carcinomas, and the presence of this rearrangement is likely to prove highly suggestive of a malignant tumor. " /// Involvement of the PAX8/peroxisome proliferator-activated receptor gamma rearrangement in follicular thyroid tumors.. /// Lack of the PAX8/PPAR gamma rearrangement in the anaplastic thyroid carcinoma group suggests that the tumorigenic pathway in these tumors is likely to be independent of this fusion. /// "The PAX8/PPAR gamma rearrangement was detected by RT-PCR, fluorescence in situ hybridization, and/or Western analysis in 10 of 34 (29%) follicular thyroid carcinomas and in one of 20 (5%) atypical follicular thyroid adenomas, but not in any of the 20 follicular thyroid adenomas or 13 anaplastic thyroid carcinomas studied. "
PPARG_PAX8t(2;3)(q13;p25) / t(2;20;3) / p21;q11.2 / 17123335thyroid adenoma FISH - Other fusion genes found in thyroid lesions are RET/PTC and PAX8/PPAR(gamma).
PPARG_PAX8- 20056739thyroid nodule;thyroid carcinoma;thyloid cancer FISH;PCR;RT-PCR - The RT-PCR assay is applicable for detecting the various described fusion transcripts of PAX8/PPARG in formalin-fixed, paraffin-embedded thyroid tissue and in fine-needle aspirate biopsy washes from thyroid nodules. /// Evaluation of the PAX8/PPARG translocation in follicular thyroid cancer with a 4-color reverse-transcription PCR assay and automated high-resolution fragment analysis.. /// "With this assay, we obtained a prevalence for the PAX8/PPARG rearrangement in FTC of 62% (13 of 21 cases), compared with a 5% prevalence (3 of 55) for other follicular cell-derived neoplasms." /// We developed and validated a clinical assay for the detection of PAX8/PPARG rearrangements that uses a 4-color reverse-transcription PCR (RT-PCR) assay and high-resolution fragment analysis. /// The molecular changes associated with follicular thyroid carcinoma (FTC) are point mutations in RAS oncogenes or the presence of PAX8/PPARG (paired box 8/peroxisome proliferator-activated receptor gamma) rearrangement. /// "With this assay, we obtained a prevalence for the PAX8/PPARG rearrangement in FTC of 62% (13 of 21 cases), compared with a 5% prevalence (3 of 55) for other follicular cell-derived neoplasms. "
PPARG_PAX8- 23966419thyroid adenoma FISH;PCR;RT-PCR - RET/PTC rearrangements are the most frequent genetic alterations associated with radiation-induced PTC, whereas BRAF and RAS mutations and PAX8-PPARG rearrangement have been associated with sporadic PTC. /// PAX8-PPARG rearrangement was not detected in any carcinoma. /// The lesions were screened for the BRAF(V600E) and NRAS mutations and for RET/PTC and PAX8-PPARG rearrangements.
PPARG_PAX8- 19963130thyroid carcinoma FISH - In this study, a group of 60 follicular thyroid neoplasms [18 FTC, 1 Hurthle cell carcinoma (HCC), 24 follicular thyroid adenomas (FTA), 5 Hurthle cell adenomas (HCA), and 12 follicular variants of papillary thyroid carcinomas (FV-PTC)] were analyzed to determine the prevalence of the PAX8-PPARG translocation by fluorescence in situ hybridization. /// Fluorescence in situ hybridization analysis using PAX8- and PPARG-specific probes reveals the presence of PAX8-PPARG translocation and 3p25 aneusomy in follicular thyroid neoplasms.. /// It is hereby concluded that 3p25 aneusomy or PAX8-PPARG translocation may play an important role in the molecular pathogenesis of follicular thyroid tumors.. /// Detection of either the PAX8-PPARG translocation or the 3p25 aneusomy in FTC indicates that these are independent genetic events. /// The PAX8-PPARG translocation was detected in 2/18 FTC (11.1%). /// The PAX8-PPARG translocation has been reported to occur in the majority of FTC.
PPARG_PAX8t(2;3)(q13;p25) / 21763631thyloid cancer;follicular adenoma PCR;RT-PCR - On the prevalence of the PAX8-PPARG fusion resulting from the chromosomal translocation t(2;3)(q13;p25) in adenomas of the thyroid.. /// The aim of this study was to determine the frequency of the PAX8-PPARG fusion in follicular adenomas and to use the HMGA2 mRNA level of such tumors as an indicator of malignancy. /// The aim of this study was to determine the frequency of the PAX8-PPARG fusion in follicular adenomas and to use the HMGA2 mRNA level of such tumors as an indicator of malignancy.
PPARG_PAX8- 15238980thyroid carcinoma;thyloid cancer PCR;RT-PCR - PAX8-PPARgamma fusion gene expression was found in 25% (six of 24) of follicular thyroid carcinomas (FTCs) and in 17% (six of 36) of follicular thyroid adenomas, but in none of the 10 normal tissues, 28 nodular hyperplasias, 38 papillary thyroid carcinomas (PTCs) and 11 poorly differentiated thyroid carcinomas (PDTCs). /// "By real-time RT-PCR, we observed that tumours negative for the PAX8-PPARgamma rearrangement expressed lower levels of PPARgamma mRNA than the NT. " /// Underexpression of peroxisome proliferator-activated receptor (PPAR)gamma in PAX8/PPARgamma-negative thyroid tumours..
PPARG_PAX8- 16086077thyroid carcinoma FISH;PCR;RT-PCR - Our findings show that follicular thyroid carcinoma (PTC) may also harbor the PAX8-PPARgamma fusion gene and indicate that a subset of FVPTC shares some molecular features of FTA and FTC.. /// The occurrence of the PAX8-PPARgamma fusion gene is thought to be restricted to follicular tumors (adenomas and carcinomas) of the thyroid (FTA and FTC). /// "Using interphase fluorescent in situ hybridization (FISH), together with recombinant tissue-type polymerase chain reaction (RT-PCR) and immunohistochemistry, we detected the PAX8-PPARgamma translocation in 4 of 8 cases of the follicular variant of papillary thyroid carcinoma (FVPTC) exclusively or almost exclusively (>95%) composed of follicles. " /// A subset of the follicular variant of papillary thyroid carcinoma harbors the PAX8-PPARgamma translocation..
PPARG_PAX8- 17651453thyroid carcinoma - - Three of five (60%) follicular thyroid adenomas and 1 of 7 (14%) follicular thyroid carcinomas, with the PAX8/PPARgamma fusion gene, were aneuploid. /// "RAS mutations and PAX8/PPARgamma fusion gene were investigated in 101 and 87 of these samples, respectively. " /// None of the tumours with RAS mutations expressed the PAX8/PPARgamma fusion gene. /// "The aim of our study was to investigate the correlation between aneuploidy, RAS mutations and PAX8/PPARgamma gene rearrangement in thyroid follicular tumours. "
PPARG_PAX8- 15077183follicular thyroid carcinoma - - Follicular thyroid carcinoma (FTC) frequently harbors the PAX8/PPARgamma fusion gene (PPFP). /// The PAX8/PPARgamma fusion oncoprotein transforms immortalized human thyrocytes through a mechanism probably involving wild-type PPARgamma inhibition..
PPARG_PAX8- 18989374thyroid carcinoma;thyloid cancer - - The PAX8/PPARgamma fusion gene appears to be an oncogene. /// The recent discovery of the PAX8/PPARgamma translocation in follicular thyroid carcinoma has promoted progress in the role of PPARgamma as a tumor suppressor and potential therapeutic target. /// The Role of the PAX8/PPARgamma Fusion Oncogene in Thyroid Cancer..
PPARG_PAX8- 22961909thyroid carcinoma - - Our results reinforce the pathogenic role played by RET/PTC1, RET/PTC3, and PAX8-PPARG fusion genes in thyroid tumorigenesis.. /// "In the thyroid, the PAX8-PPARG fusion is present in the neoplastic lesions that have a follicular architecture-follicular thyroid carcinoma (FTC) and follicular variant of papillary thyroid carcinoma (FVPTC), and less frequently in follicular thyroid adenoma (FTA), while the presence of RET/PTC fusions are largely restricted to papillary thyroid carcinoma (PTC). "
PPARG_PAX8t(2;3)(q13;p25) / 12161538thyroid carcinoma PCR;RT-PCR - Our findings that PAX8-PPAR gamma 1 rearrangements are present in both follicular carcinomas and adenomas suggest that this oncogene is not a reliable marker to differentiate between FTC and FTA in fine-needle aspiration biopsies of follicular neoplasms of the thyroid.. /// Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas.. /// PAX8-PPAR gamma 1 rearrangements were detected by RT-PCR in 5 of 9 (56%) FTC and in 2 of 16 (13%) FTA. /// "In this study, we have combined RT-PCR with primers in exons 4-8 of PAX8 and in exon 1 of PPAR gamma 1 with PPAR gamma immunohistochemistry to study PAX8-PPAR gamma 1 oncogene activation in FTC (n = 9), FTA (n = 16), PTC (n = 9), anaplastic thyroid carcinomas (n = 4), and multinodular hyperplasias (n = 2). " /// "Diffuse nuclear staining for PPAR gamma was present in RT-PCR- negative cases of FTC (n = 3), FTA (n = 3), and PTC (n = 1), suggesting that a different PAX8-PPAR gamma 1 breakpoint, a rearrangement between PPAR gamma 1 and a non-PAX8 partner, or overexpression of the native protein might be present. "
PPARG_PAX8- 20099311papillary carcinoma - - Analysis for BRAF and RAS gene mutations and RET/PTC and PAX8/PPARgamma gene rearrangements were performed and correlated with the cytologic features and surgical pathology outcome.
PPARG_PAX8t(2;3)(q13;p25) / 22179975thyroid carcinoma;papillary carcinoma;follicular adenoma PCR;RT-PCR - Detection of PAX8-PPARG fusion transcripts in archival thyroid carcinoma samples by conventional RT-PCR.. /// The RT-PCR approach described herein allows to detect all known variants of PAX8-PPARG fusion transcripts and is applicable to FFPE tissues. /// The aim of the present study was to develop a method for the detection of chimeric PAX8-PPARG transcripts in formalin-fixed paraffin-embedded (FFPE) thyroid tumor samples by conventional RT-PCR.
PPARG_PAX8t(2;3) (q13;p25) / 19883731thyloid cancer - - The role of the PAX8/PPARgamma fusion oncogene in the pathogenesis of follicular thyroid cancer.. /// "This chromatin rearrangement results in the expression of a PAX8/PPARgamma fusion protein, designated PPFP, whose incidence is relatively common in FTC and may represent an initiating event in the genesis of FTC. "
PPARG_PAX8t(2;3)(q13;p25) / 15972966follicular thyroid carcinoma - - Moreover many genes involved in PAX8-PPARgamma expression profile presented a putative PPARgamma-promoter site, compatible with a direct activity of the fusion product.
PPARG_PAX8- 15362967thyroid carcinoma;papillary carcinoma;follicular adenoma PCR;RT-PCR - We investigated in a series of thyroid samples, including 14 normal, 13 hyperfunctioning tissues, 26 follicular adenomas, 21 follicular and 41 papillary carcinomas, both the frequency of the PAX8-PPARgamma1 rearrangement and the expression of the PAX8 and PPARgamma transcripts. /// "Immunohistochemistry showed that nuclear PPARgamma staining was weak in normal tissues, adenomas, papillary carcinomas and in some follicular carcinomas, and strong in the follicular carcinomas positive for the PAX8-PPARgamma1 translocation, but also in some follicular tumors in which no translocation could be evidenced. "
PPARG_PAX8- 17131411thyroid carcinoma - - In contrast, genetic alterations in follicular carcinomas include PAX8-PPARgamma translocations and RAS mutations while mutations of CTNNB1 and p53 have been implicated in the development and progression of poorly differentiated and undifferentiated (anaplastic) thyroid carcinomas.
PPARG_PAX8- 23025542follicular adenoma PCR;RT-PCR - Detection of PAX8/PPARG and RET/PTC rearrangements is feasible in routine air-dried fine needle aspiration smears.. /// "As PAX8/PPARG and RET/PTC rearrangements have been detected in follicular thyroid carcinomas (FTCs) and papillary thyroid carcinomas (PTCs), their detection in FNA smears could improve the FNA diagnosis. " /// These data are the first to show the feasibility of extracting RNA from routine air-dried FNA smears for the detection of PAX8/PPARG and RET/PTC rearrangements with RT-qPCR. /// PAX8/PPARG was detected in 4 of 96 FFPEs and in 6 of 96 FNAs. /// "A new method for RNA extraction from routine air-dried FNA smears was established, which allowed analysis for the presence of four variants of PAX8/PPARG and RET/PTC 1 and RET/PTC 3, which were analyzed in 106 routine FNA smears and the corresponding surgically obtained FFPE tissues using real-time quantitative PCR (RT-qPCR). " /// PAX8/PPARG was present in 4 of 10 FTCs and in 3 of 42 follicular adenomas (FAs).
PPARG_PAX8- 23837487thyroid nodule;thyroid carcinoma;follicular adenoma PCR - PAX8/PPARG and RET/PTC rearrangements were detected by qPCR, BRAF and RAS mutations by high-resolution melting PCR and by pyrosequencing. /// "While the presence of a BRAF and RET/PTC mutation was associated with cancer in 100% of samples each, the presence of a RAS and PAX8/PPARG mutation was associated with cancer in only 12% and 50% of samples, respectively." /// "Forty-seven mutations were detected in the FNAs: 22 BRAF, 13 NRAS, and 3 HRAS mutations, 8 PAX8/PPARG, and one RET/PTC-rearrangement." /// "Forty-seven mutations were detected in the FNAs: 22 BRAF, 13 NRAS, and 3 HRAS mutations, 8 PAX8/PPARG, and one RET/PTC-rearrangement. " /// "While the presence of a BRAF and RET/PTC mutation was associated with cancer in 100% of samples each, the presence of a RAS and PAX8/PPARG mutation was associated with cancer in only 12% and 50% of samples, respectively. " /// Further data are necessary to elucidate the true impact of detecting RAS and PAX8/PPARG mutations in FNAs.
PPARG_PAX8t(2;3)(q13;p25) / 12519876thyroid carcinoma;sarcoma PCR;RT-PCR - Concordant expression of protein was found in 91% of those tumors in which PAX8-PPAR gamma mRNA was detected by RT-PCR, whereas a further 20% of follicular tumors were positive for PPAR gamma immunohistochemistry alone. /// Detection of the PAX8-PPAR gamma fusion oncogene in both follicular thyroid carcinomas and adenomas.. /// "Our findings suggest that the PAX8-PPAR gamma fusion protein promotes differentiated follicular thyroid neoplasia, although it is not sufficient per se for carcinogenesis.. "
PPARG_PAX8- 12727991thyroid carcinoma;follicular adenoma - - Forty-nine percent of conventional follicular carcinomas had RAS mutations, 36% had PAX8-PPAR gamma rearrangement, and only one (3%) had both. /// A series of 88 conventional follicular and H?rthle cell thyroid tumors were analyzed for RAS mutations and PAX8-PPAR gamma rearrangements using molecular methods and for galectin-3 and HBME-1 expression by immunohistochemistry. /// H?rthle cell tumors infrequently had PAX8-PPAR gamma rearrangement or RAS mutations. /// RAS point mutations and PAX8-PPAR gamma rearrangement in thyroid tumors: evidence for distinct molecular pathways in thyroid follicular carcinoma.. /// "In follicular adenomas, 48% had RAS mutations, 4% had PAX8-PPAR gamma rearrangement, and 48% had neither. " /// These results suggest that conventional follicular thyroid carcinomas develop through at least two distinct and virtually nonoverlapping molecular pathways initiated by either RAS point mutation or PAX8-PPAR gamma rearrangement.. /// "Follicular carcinomas with PAX8-PPAR gamma typically showed immunoreactivity for galectin-3 but not for HBME-1, tended to present at a younger patient age and be smaller size, and were almost always overtly invasive. "
PPARG_PAX8- 16219715thyroid carcinoma PCR;RT-PCR - In an attempt to clarify such controversies and to find whether or not FVPTC cases share the molecular features of follicular tumors, we searched for the presence of PAX8-PPARgamma rearrangements, RAS mutations, and RAP-1, RAF-1, and BRAF mutations in a series of 40 FVPTCs as well as in 27 follicular thyroid carcinomas (FTCs) and 12 follicular thyroid adenomas (FTAs). /// "In FVPTCs, the PAX8-PPARgamma rearrangement was significantly associated with multifocality and vascular invasion, whereas the RAS mutations were significantly associated with the large tumor size. " /// PAX8-PPARgamma rearrangement is frequently detected in the follicular variant of papillary thyroid carcinoma.. /// "association to blood-born metastases) of PAX8-PPARgamma rearrangement, RAS mutations, and BRAF(K601E) in FVPTCs.. " /// "There were three cases of FVPTC, three FTCs and one FTA, harboring both PAX8-PPARgamma rearrangement and RAS mutations. " /// "Fluorescence in situ hybridization and RT-PCR were used to detect the PAX8-PPARgamma rearrangement and PCR, single strand confirmational polymorphism, and sequencing for searching the mutations. " /// "The frequency of PAX8-PPARgamma rearrangement was similar in FVPTCs (37.5%), FTCs (45.5%), and FTAs (33.3%). "
PPARG_PAX8- 25487739- PCR;RT-PCR - Both cytological and histological specimens were investigated by direct sequencing and reverse transcription-polymerase chain reaction (RT-PCR) for BRAF and RAS mutations and for PAX8/PPARG and RET/PTC rearrangements, respectively.
PPARG_PAX8- 15785241thyloid cancer - - PPARgamma may play a role in thyroid carcinogenesis since PAX8-PPARgamma1 chromosomal translocations are commonly found in follicular thyroid cancers.
PPARG_PAX8- 20526288thyroid carcinoma;follicular adenoma - - One encapsulated carcinoma showed a PAX8/PPARgamma rearrangement, whereas two infiltrative tumors harbored RET/PTC fusions.
PPARG_PAX8t(2;3)(q13;p25) / 10958784thyroid carcinoma;papillary carcinoma;leukemia;sarcoma;lymphoma;follicular adenoma - - The experiments demonstrate an oncogenic role for PPARgamma and suggest that PAX8-PPARgamma1 may be useful in the diagnosis and treatment of thyroid carcinoma..
PPARG_PAX8- 24915144thyroid nodule - - A PAX8/PPARG rearrangement was found in one malignant HTN. /// "The increased malignancy rate of HTNs of children does not appear to be associated with RAS, BRAF, PAX8/PPARG and RET/PTC mutations.. "
PPARG_PAX8- 22803838- - - An FHCC with a solid/microfollicular growth pattern scored positive for both RET/PTC and PAX8/PPARG rearrangement. /// "In an attempt to clarify this issue, we analysed a series of H?rthle cell tumours for the presence of RET/PTC and PAX8/PPARG rearrangements and BRAF, HRAS and NRAS mutations. " /// "PAX8/PPARG rearrangement was present in 27% of the FHCCs which displayed, in most cases, a follicular architecture. "
PPARG_PAX8- 19543912- - - Five cases of TT-UMP showed N-RAS mutations, while one showed H-RAS mutation and another PAX8/PPARgamma rearrangement.
PPARG_PAX8- 24811481thyroid nodule;papillary carcinoma;thyloid cancer - - Seventeen genetic alterations (BRAF, KRAS, HRAS, and NRAS mutations, PAX8-PPARG and RET-PTC rearrangements) were evaluated by multiplex polymerase chain reaction and liquid bead array cytometry in 769 FNAs that met inclusion criteria. /// "The posttest probability of thyroid cancer was 100% for nodules positive for BRAF or RET-PTC, 70% for RAS or PAX8-PPARG, and 88% for molecular cytology overall. "
PPARG_PAX8- 17160155thyroid carcinoma;thyloid cancer - - Molecular factors such as rearrangements of genes RET/PTC, RAS mutations and fusion of, paired box and 8/peroxisome proliferator-activated receptor gamma (PAX8/PPARgamma) are also involved in thyroid cancer prognosis, while some others: human Pituitary- Tumor Transforming Gene (e.g.
PPARG_PAX8- 19147628thyroid carcinoma;thyloid cancer - - The molecular pathology of thyroid cancer is now better understood because of our ability to identify RET/PTC rearrangements and BRAF mutations in the aetiopathogenesis of the large majority of PTCs and the high prevalence of RAS mutations and PAX8/PPARgamma rearrangements in follicular patterned carcinomas (FTCs and follicular variant of PTCs).
PPARG_PAX8- 24570192thyroid nodule;papillary carcinoma - - PAX8/PPARG and RET/PTC3 rearrangements were detected by qPCR, while BRAF and RAS point mutations were detected by pyrosequencing. /// "PAX8/PPARG was detected in 2 MFP samples, while RET/PTC was detected in only one MFP sample. "
PPARG_PAX8- 16189702thyroid carcinoma;papillary carcinoma - - A particular emphasis is put on the meaning of PAX8-PPARgamma rearrangements, RAS and BRAF mutations, and deletions and mutations of mitochondrial genes and of nuclear genes encoding for mitochondrial enzymes, for thyroid tumorigenesis..
PPARG_PAX8- 18502330thyloid cancer - - PAX8-PPARgamma rearrangements.
PPARG_PAX8- 19910897thyloid cancer - - Specific genetic lesions are associated to each thyroid tumor histotype: BRAF mutations and RET/PTC and TRK oncogenes have been detected in PTC, whereas FTC is characterized by PAX8/PPARgamma rearrangements and RAS mutations.
PPARG_PAX8- 18437172thyroid carcinoma;papillary carcinoma;thyloid cancer - - Most frequent alterations in follicular carcinomas, the second most common type of thyroid malignancy, include RAS mutations and PAX8-PPARgamma rearrangement.
PPARG_PAX8- 20427420thyroid carcinoma - - We report a patient with hyperthyroidism due to a FTC bearing an activating TSHR mutation and PAX8-PPARgamma rearrangements. /// Identification of a paired box gene 8-peroxisome proliferator-activated receptor gamma (PAX8-PPARgamma) rearrangement mosaicism in a patient with an autonomous functioning follicular thyroid carcinoma bearing an activating mutation in the TSH receptor.. /// Our main objective was to search for mutations in candidate genes and for paired box gene 8-peroxisome proliferator-activated receptor gamma (PAX8-PPARgamma) rearrangement in a well-differentiated angioinvasive follicular thyroid carcinoma (FTC) causing hyperthyroidism. /// "under complete medium conditions, co-transfection of PAX8-PPARgamma with either TSHR-M453T or TSHR-WT inhibited cell proliferation. " /// "We searched for PAX8-PPARgamma in thyroid, PBL, and uterine leiomyoma samples from the patient and family members. " /// PAX8-PPARgamma was present as a mosaicism affecting tissues from endodermal and mesodermal origin. /// "Under deprived medium condition, co-transfection of PAX8-PPARgamma and TSHR-M453T dramatically increased the number of thyrocytes, an effect that it was not observed with TSHR wild-type (WT). " /// PAX8-PPARgamma and TSHR-M453T inhibited or promoted thyrocyte proliferation depending on medium conditions.
PPARG_PAX8- 20089614congenital hypothyroidism - - BRAF, RAS, and P53 mutations or PAX8/PPAR-gamma rearrangement were screened in the FVPTC. /// "Neither RAS, BRAF, or P53 gene mutation nor a PAX8/PPAR-gamma rearrangement was detected in the tumor tissue. "
PPARG_PAX8- 18088233thyroid carcinoma;papillary carcinoma;thyloid cancer - - Frequent genetic alterations in follicular carcinomas, the second most common type of thyroid malignancy, include RAS mutations and PAX8-PPAR gamma rearrangement.
PPARG_PAX8- 15272927thyroid carcinoma - - The expression of PAX8-PPARgamma rearrangements is not specific to follicular thyroid carcinoma..
PPARG_PAX8- 12866375thyroid carcinoma;papillary carcinoma - - ret/PTC rearrangements are common in classic papillary thyroid carcinoma (PTC) and PAX8-PPAR gamma and ras mutations in follicular thyroid carcinoma. /// No PAX8-PPAR gamma was found in either group.
PPARG_PAX8- 26167339thyroid carcinoma;papillary carcinoma;thyloid cancer;follicular adenoma - - BRAF(V600E) Mutation, RET/PTC1 and PAX8-PPAR Gamma Rearrangements in Follicular Epithelium Derived Thyroid Lesions - Institutional Experience and Literature Review..
PPARG_PAX8- 15681856anaplastic thyroid carcinoma;papillary adenoma - - In thyroid follicular carcinomas, two known initiating events are RAS mutations and PAX8-PPARgamma rearrangements, and RAS predisposes to dedifferentiation of follicular carcinomas.
PPARG_PAX8- 15689324thyroid carcinoma - - Follicular carcinomas are characterized by the presence of a RAS mutation or of a PAX8-PPARgamma rearrangement.
PPARG_PAX8- 16352687thyroid carcinoma;thyloid cancer PCR;RT-PCR - Although the NORE1A mRNA levels of the majority of the tumors were similar to those in the normal controls, the cases harboring a PAX8-PPARgamma translocation (n = 6) exhibited dramatically reduced NORE1A expression (P < 0.001). /// "Our experiments demonstrate the suppression of NORE1A, a known Ras effector, in PAX8-PPARgamma carrying FTCs.. " /// "The results were evaluated in relation to RASSF1A expression, RAS mutations, and PAX8-PPARgamma fusions assessed in the same material. " /// The Ras effector NORE1A is suppressed in follicular thyroid carcinomas with a PAX8-PPARgamma fusion..
PPARG_PAX8- 12776192thyroid carcinoma PCR;RT-PCR - This suggests that while the overall frequency of the PAX8-PPARgamma translocation in FTCs may be lower than previously thought, functional downregulation of PPARgamma is a key event in multiple types of thyroid neoplasia and is a possible target for therapeutic intervention..
PPARG_PAX8- 16444351thyloid cancer;follicular adenoma - - Another finding in FTC is mutations on the RAS gene, which excludes PAX8-PPARgamma rearrangements. /// "however, the presence of PAX8-PPARgamma is also demonstrated in follicular adenomas. " /// "Therefore, there is no complete evidence that PAX8-PPARgamma is the cause of FTC. "
PPARG_PAX8- 24830619thyroid nodule;papillary carcinoma;thyloid cancer - - RAS or PAX8-PPARG were present in 23% of adenomas, and NRAS was found in a single nonneoplastic lesion (P = .0014).
PPARG_PAX8- 18602667thyroid carcinoma - - There were PAX8-PPARgamma rearrangement and N-RAS mutation.
PPARG_PAX8- 15608688thyroid carcinoma - - Taken together, our findings further support that follicular carcinomas with a PAX8-PPAR(gamma) rearrangement constitute a distinct biological entity. /// Expression profiling reveals a distinct transcription signature in follicular thyroid carcinomas with a PAX8-PPAR(gamma) fusion oncogene.. /// "The PAX8-PPAR(gamma)(+) FTCs grouped in a defined cluster, where highly ranked genes were mostly associated with signal transduction, cell growth and translation control. " /// "In the present study, we compared the gene expression profiles of follicular thyroid carcinomas (FTCs) bearing a PAX8-PPAR(gamma) fusion against FTCs that lack this fusion. " /// The demonstration of the PAX8-PPAR(gamma) fusion oncogene in a subset of follicular thyroid tumors provides a new and promising starting point to dissect the molecular genetic events involved in the development of this tumor form. /// "Using unsupervised clustering and multidimensional scaling analyses, we show that FTCs possessing a PAX8-PPAR(gamma) fusion have a highly uniform and distinct gene expression signature that clearly distinguishes them from FTCs without the fusion. " /// The current data represent one step to elucidate the molecular pathways in the development of FTCs with the specific PAX8-PPAR(gamma) fusion..
PPARG_PAX8- 21464025thyloid cancer - - It is established that numerous somatic oncogene mutation (BRAF, NRAS, HRAS, KRAS) and gene translocations (RET/PTC, PAX8/PPAR-gamma) are associated with the development of thyroid cancer.
PPARG_PAX8- 15252732papillary carcinoma - - PPARgamma protein overexpression was absent in all OCAs tested and present in only 10% of OCCs, confirming previous reports on the low prevalence of PAX8-PPARgamma translocations in OCT and ruling out its role as a potential diagnostic marker of malignancy..
PPARG_PAX8- 26259532papillary carcinoma;thyloid cancer - - Some somatic oncogene mutations (BRAF, NRAS, HRAS, KRAS) as well as gene translocations (RET/PTC, PAX8/PPAR-gamma) have been associated with the development of thyroid cancer.
PPARG_PAX8- 16149875papillary carcinoma;mucoepidermoid carcinoma - - Specific molecular mutations have been described that can be diagnostically useful or explain, in part, their pathogenesis, including the well-known Ret/PTC and PPARgamma-PAX8 translocations, point mutations in the Ret, Ras and BRAF genes, and loss of heterozygosity of multiple different tumor suppressor genes.
PPARG_PAX8- 18251569oligodendroglioma - - Molecular assays that are currently in use or on the near horizon, including translocation analyses for RET-PTC and PPARgamma-PAX8, point mutation analysis for BRAF and epidermal growth factor receptor, and genetic loss for 1p and 19q, are discussed..
PPARG_PAX8- 16627918thyroid carcinoma;papillary carcinoma - - These include the translocations RET/PTC and PAX8-PPARgamma and point mutations in the BRAF and RAS genes.
PPARG_PAX8- 12170088hurthle cell tumors PCR;RT-PCR - Most sporadic follicular carcinomas positive for PAX8-PPARgamma were overtly invasive, whereas tumors lacking the rearrangement were predominantly minimally invasive. /// The absence of PAX8-PPARgamma rearrangements in Hurthle cell tumors and papillary thyroid carcinomas highlights the differences in the molecular pathogenesis of these thyroid tumors.. /// " A PAX8-PPARgamma rearrangement has been recently identified in follicular thyroid carcinomas, but not in follicular adenomas or other thyroid tumors. " /// PAX8-PPARgamma rearrangement in thyroid tumors: RT-PCR and immunohistochemical analyses.. /// "The two follicular adenomas positive for PAX8-PPARgamma had trabecular growth pattern and thick capsule, but no invasion, and thus may represent ""pre-invasive"" follicular carcinomas. " /// "PAX8-PPARgamma was detected by RT-PCR in eight of 15 (53%) follicular carcinomas and two of 25 (8%) follicular adenomas but not in 35 papillary carcinomas (including 12 follicular variants), 12 Hurthle cell carcinomas, 12 Hurthle cell adenomas, two anaplastic carcinomas, one poorly differentiated carcinoma, or 16 hyperplastic nodules. " /// We report here the analyses of PAX8-PPARgamma in a series of 118 thyroid tumors using a newly developed RT-PCR assay to detect this rearrangement in frozen and paraffin-embedded tissues and using immunostaining with a PPARgamma antibody. /// "Strong, diffuse nuclear immunostaining with the PPARgamma antibody correlated with the presence of PAX8-PPARgamma detected by RT-PCR. "
PPARG_PAX8- 16179407thyroid carcinoma - - In gel shift analyses, PAX8-PPARgamma bound a PPARgamma-response element suggesting that its transcriptional function is mediated via direct DNA contact. /// This study investigated the transcriptional mechanisms by which PAX8-PPARgamma regulates follicular thyroid cells. /// PAX8-peroxisome proliferator-activated receptor gamma (PPARgamma) disrupts normal PAX8 or PPARgamma transcriptional function and stimulates follicular thyroid cell growth.. /// "In HeLa cells, rat follicular thyroid (FRTL-5) cells, or immortalized human thyroid cells, PAX8-PPARgamma stimulated transcription from PAX8-responsive thyroperoxidase and sodium-iodide symporter promoters in a manner at least comparable with wild-type PAX8. " /// "Therefore, PAX8-PPARgamma disrupts normal transcriptional regulation by stimulating some genes and inhibiting others, the net effect of which may mediate follicular thyroid cell growth and loss of differentiation that ultimately leads to carcinogenesis.. " /// "Unexpectedly, PAX8-PPARgamma transcriptional function on a PPARgamma-responsive promoter was cell-type dependent. " /// "In contrast, PAX8-PPARgamma failed to stimulate transcription from the thyroglobulin promoter and blocked the synergistic stimulation of this promoter by wild-type PAX8 and thyroid transcription factor-1. " /// "In this model, PAX8-PPARgamma expression was associated with enhanced growth as assessed by soft agar assays and thymidine uptake. " /// "in HeLa cells, PAX8-PPARgamma dominantly inhibited expression of the PPARgamma-responsive promoter, whereas in FRTL-5 and immortalized human thyroid cells PAX8-PPARgamma stimulated this promoter. " /// A biological model of PAX8-PPARgamma function in follicular thyroid cells was generated via constitutive expression of the fusion protein in FRTL-5 cells.
PPARG_PAX8- 16209039acute myeloid leukemia - - PPARgamma and RARalpha are closely related members ofthe same nuclear receptor subfamily, and the PML-RARalpha and PAX8-PPARgamma fusion proteins both function as dominant negative inhibitors of their wild-type parent proteins.
PPARG_PAX8- 20564403neuroblastoma - - Chromosomal RET-PTC and PAX8-PPARgamma rearrangements were observed in 20% and 17% of tumors, respectively. /// RET-PTC and PAX8-PPARgamma rearrangements and mutations of the neuroblastoma RAS viral oncogene homolog N-RAS at codon 61 were the most common genetic alterations in FVPTCs. /// "Tumors and matched normal thyroid samples were tested for RAS, for the v-raf murine sarcoma viral oncogene (BRAF) substitution of valine (V) for glutamate (E) at codon 600 (the V600E mutation), for phosphatase and tensin homolog (PTEN), for catalytic PI3k p110 subunit alpha (PIK3CA), for AKT, and for the presence of rearranged during transfection (ret) proto-oncogene/PTC (RET-PTC) and paired box-8 (PAX8)/peroxisome proliferator-activated receptor gamma (PPARgamma) fusion protein (PAX8-PPARgamma) rearrangements by direct sequencing and reverse transcriptase-polymerases chain reaction analyses, respectively. "
PPARG_PAX8- 12364466colon cancer - - PPAR gamma gene mutations have been found in 4 of 55 sporadic colon cancers, and a chimeric PAX8-PPAR gamma 1 gene frequently generates a chromosomal translocation in thyroid follicular carcinomas, implicating PPAR gamma in tumor suppression.
PPARG_PAX8- 25047205thyroid nodule - - The rule out (gene expression classifier) approach requires confirmation by independent studies, whereas the rule in approach (detection of BRAF, NRAS, HRAS, and KRAS and PAX8/PPARG- and RET/PTC rearrangements) has been investigated by several groups with overall reproducible results.

ChimerSEQ

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The fusion gene pair PPARG--PAX8 information is available in CHIMERSEQ (CHIMERDB 3.0) database.

Fusion_pair5'Gene Junction (Chr/Position/Strand)3'Gene Junction (Chr/Position/Strand)5'Gene_locus3'Gene_locusBreakpoint_TypeGenome_BuildFrameChr_infoCancertype_or_diseaseBarcodeIDGene TypeSource
PPARG_PAX8chr3/12353952/+ chr2/113984833/- 3p25.2 2q13 Exonic hg19 - Inter-chr THCA TCGA-BJ-A0YZ-01A Receptor; Transcription_Factor PRADA
PPARG_PAX8chr3/12353952/+ chr2/113984833/- 3p25.2 2q13 Exonic hg19 - Inter-chr THCA TCGA-DE-A4M9-01A Receptor; Transcription_Factor PRADA
PPARG_PAX8chr3/12353952/+ chr2/113984833/- 3p25.2 2q13 Exonic hg19 - Inter-chr THCA TCGA-EM-A3AJ-01A Receptor; Transcription_Factor PRADA

ChiTaRS 2.1

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The fusion gene pair PPARG--PAX8 information is not available in CHITARS database.

FARE-CAFE

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The fusion gene pair PPARG--PAX8 information is not available in FARE-CAFE.

TicDB

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The fusion gene pair PPARG--PAX8 information is not available in TicDB.

TUMOR FUSION Gene Data Portal

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The fusion gene pair PPARG--PAX8 information is available in TUMOR FUSION Gene Data Portal.
CancerTCGA_barcodeFusionPairEvalue5'Gene_Junction3'Gene_JunctionTierFrameTNWGS_validation
THCA BJ-A0YZ-01A PPARG__PAX8 1 3:12353952/1 2:113984833/-1 tier1 5UTR-CDS 13230 NA
THCA DE-A4M9-01A PPARG__PAX8 1 3:12353952/1 2:113984833/-1 tier4 5UTR-CDS 13231 NA
THCA EM-A3AJ-01A PPARG__PAX8 1 3:12353952/1 2:113984833/-1 tier1 5UTR-CDS 13232 NA

FusionCancer

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The fusion gene pair PPARG--PAX8 information is not available in FusionCancer Database.

ConjoinG

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The fusion gene pair PPARG--PAX8 information is not available in ConjoinG Database.

1000Genome

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Fusion gene PPARG--PAX8 has not been seen in a healthy sample (RNA-seq data from some samples from 1000 genomes project: Greger et al., Tandem RNA Chimeras Contribute to Transcriptome Diversity in Human Population and Are Associated with Intronic Genetic Variants, Plos One, Aug 2014 ). Therefore this candidate fusion gene has a low probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

18Cancers

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Fusion gene PPARG--PAX8 is not found in a RNA-seq dataset of 18 types of cancers from 600 tumor samples (B. Alaei-Mahabadia et al., Global analysis of somatic structural genomic alterations and their impact on gene expression in diverse human cancers, PNAS, Nov. 2016 )

Bodymap2

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Fusion gene PPARG--PAX8 is not found in the list of known false positive fusion genes. The list has been generated from healthy human samples collected from 16 organs from Illumina BodyMap2 RNA-seq database. A candidate fusion gene found in this list has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

HPA

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Fusion gene PPARG--PAX8 is not found in a healthy sample (RNA-seq database of 27 healthy tissues from 95 human individuals). A candidate fusion gene found in this dataset has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

Non_Tumor_Cells

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Fusion gene PPARG--PAX8 was not found among the fusion genes which have been previously reported/found in non-tumor cell lines, like for example HEK293. The genes which are observed in those list can be considered as non-somatic mutation. [Fusion gene List compiled from FusionCatcher]

Babiceanu_Dataset

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The fusion gene pair PPARG--PAX8 information is not available in Babiceanu_Dataset.

Banned_Dataset

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Fusion gene PPARG--PAX8 is not found in the list of known false positive fusion genes. A candidate fusion gene found in this list has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

Known_Fusions

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Fusion gene PPARG--PAX8 has not been found in the list of fusions previously reported or published in scientific articles/reports/books/abstracts/databases, indexed by Google, Google Scholar, PubMed, etc. The list has been manually curated by FusionCatcher software. This label has only the role to answer with YES or NO the question "has ever before a given (candidate) fusion gene been published or reported?". This label does not have in anyway the role to provide the original references to the original scientific articles/reports/books/abstracts/databases for a given fusion gene.[Fusion gene List compiled from FusionCatcher]

ONGene Database

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The head gene PPARG is a known oncogene according to ONGENE database.


The tail gene PAX8 is a known oncogene according to ONGENE database.

Bushman Cancer Gene Database

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The head gene PPARG is cancer associated according to Bushman Cancer Gene database.


The tail gene PAX8 is cancer associated according to Bushman Cancer Gene database.

Tumor Gene Set By Uniprot

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The head gene PPARG is not a proto-oncogene or tumor suppresor gene according to Uniprot database.
The tail gene PAX8 is not a proto-oncogene or tumor suppresor gene according to Uniprot database.

Oesophagus_Dataset

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Fusion gene PPARG--PAX8 is not found in oesophageal tumors from TCGA samples, which are published here.

Gliomas_Dataset

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Fusion gene PPARG--PAX8 is not found in the RNA-seq dataset of 272 glioblastomas, published here.

Prostate_Dataset

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The fusion gene pair PPARG--PAX8 information is not available in Prostate Dataset (150 prostate tumor RNAs, Robison et al, Integrative Clinical Genomics of Advanced Prostate Cancer, Cell, Vol. 161, May 2015, http://dx.doi.org/10.1016/j.cell.2015.05.001).

Pancreases_Dataset

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Fusion gene PPARG--PAX8 is not found in pancreatic tumor dataset, published here.

GTEx

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Fusion gene PPARG--PAX8 has not been found in a healthy sample (GTEx database of healthy tissues (thru FusionAnnotator)). A candidate fusion gene found in this set has a very high probability of being a false positive. [Fusion gene List compiled from FusionCatcher]

Klijin_Dataset

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The fusion gene pair PPARG--PAX8 information is not available in Klijn Dataset.

Fimereli_Dataset

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The fusion gene pair PPARG--PAX8 information is not found in Fimereli_Dataset.

Literature

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The fusion gene pair PPARG--PAX8 information is not found in known fusion genelist compiled from literature.

Cortex_Dataset

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Fusion gene PPARG--PAX8 is not found in Cortex_Dataset (Fusion genes found in healthy human brains (BA9 prefrontal cortex)) . A candidate fusion gene found in this dataset has a very high probability of being a false positive.

ChromothripsisDB

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The fusion gene pair PPARG--PAX8 information is not available in ChromothripsisDB database.