t(2;3)(q13;p25) PAX8/PPARG

0000-00-00   Jean-Loup Huret , Philippe Dessen 

(Note: the fusion was discovered by NGS. Many chromosome rearrangement mechanisms such as translocation, inversion,deletion or complex rearrangement may lead to the same fusion)

Note

Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation,go to u00a0How to contribute

Summary

Note

Non-annotated chromosomal abnormality. Preliminary data :
if you are an author who wish to write a full paper/card on this translocation,go to  How to contribute

Genes Involved and Proteins

Gene name

PAX8

Location

2q14.1

Gene name

PPARG

Location

3p25.2

Highly cited references

Pubmed IDYearTitleCitations
274946112016Comprehensive Analysis of the Transcriptional and Mutational Landscape of Follicular and Papillary Thyroid Cancers.100
166090072006Delineation, functional validation, and bioinformatic evaluation of gene expression in thyroid follicular carcinomas with the PAX8-PPARG translocation.64
250694642014Pax-8-PPAR-γ fusion protein in thyroid carcinoma.44
248114812014Centralized molecular testing for oncogenic gene mutations complements the local cytopathologic diagnosis of thyroid nodules.37
287855382017European Thyroid Association Guidelines regarding Thyroid Nodule Molecular Fine-Needle Aspiration Cytology Diagnostics.36
262583212015Tumor genotype determines phenotype and disease-related outcomes in thyroid cancer: a study of 1510 patients.30
198094272009Gene expression profiling associated with the progression to poorly differentiated thyroid carcinomas.29
238374872014Impact of molecular screening for point mutations and rearrangements in routine air-dried fine-needle aspiration samples of thyroid nodules.27
282315762016Molecular Markers Involved in Tumorigenesis of Thyroid Carcinoma: Focus on Aggressive Histotypes.26
263674512016Molecular Characterization of Sporadic Pediatric Thyroid Carcinoma with the DNA/RNA ThyroSeq v2 Next-Generation Sequencing Assay.19
239331542014Genetics and epigenetics of sporadic thyroid cancer.18
291084742018Molecular Testing for Oncogenic Gene Alterations in Pediatric Thyroid Lesions.17
256297692015Molecular testing of thyroid fine-needle aspirations improves presurgical diagnosis and supports the histologic identification of minimally invasive follicular thyroid carcinomas.17
272835002016Somatic mutation profiling of follicular thyroid cancer by next generation sequencing.16
248306192014Molecular testing for oncogenic gene mutations in thyroid lesions: a case-control validation study in 413 postsurgical specimens.14
291658882017Molecular pathology and thyroid FNA.13
294390592018Non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP): impact on the reclassification of thyroid nodules.12
229619092012Survey of 548 oncogenic fusion transcripts in thyroid tumors supports the importance of the already established thyroid fusions genes.12
300527232018Does Noninvasive Follicular Thyroid Neoplasm With Papillary-Like Nuclear Features (NIFTP) Have a Unique Molecular Profile?11
249151442014Somatic mutations in 33 benign and malignant hot thyroid nodules in children and adolescents.11
174255052006Recurrent fusion oncogenes in carcinomas.11
294699402018Different qualifiers of AUS/FLUS thyroid FNA have distinct BRAF, RAS, RET/PTC, and PAX8/PPARg alterations.10
286597202017The Genetics of Papillary Microcarcinomas of the Thyroid: Diagnostic and Prognostic Implications.10
274731012016Two-miRNA classifiers differentiate mutation-negative follicular thyroid carcinomas and follicular thyroid adenomas in fine needle aspirations with high specificity.10
228038382012RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas.10
316714092019Revised criteria for diagnosis of NIFTP reveals a better correlation with tumor biological behavior.9
314690532019Molecular Variants and Their Risks for Malignancy in Cytologically Indeterminate Thyroid Nodules.9
318217462020Evaluation of BRAF, RAS, RET/PTC, and PAX8/PPARg alterations in different Bethesda diagnostic categories: A multicentric prospective study on the validity of the 7-gene panel test in 1172 thyroid FNAs deriving from different hospitals in South Italy.9
230255422012Detection of PAX8/PPARG and RET/PTC rearrangements is feasible in routine air-dried fine needle aspiration smears.9
200567392010Evaluation of the PAX8/PPARG translocation in follicular thyroid cancer with a 4-color reverse-transcription PCR assay and automated high-resolution fragment analysis.9
280719862017Evaluation of a Two-Year Routine Application of Molecular Testing of Thyroid Fine-Needle Aspirations Using a Seven-Gene Panel in a Primary Referral Setting in Germany.8
240255832013The thyroid cancer PAX8-PPARG fusion protein activates Wnt/TCF-responsive cells that have a transformed phenotype.8
286218372017Paediatric follicular thyroid carcinoma - indolent cancer with low prevalence of RAS mutations and absence of PAX8-PPARG fusion in a Japanese population.7
280081562017Genomic binding of PAX8-PPARG fusion protein regulates cancer-related pathways and alters the immune landscape of thyroid cancer.7
250472052014Ruling in or ruling out thyroid malignancy by molecular diagnostics of thyroid nodules.7
292988442018A six-gene panel to label follicular adenoma, low- and high-risk follicular thyroid carcinoma.6
257513242015Identification of Unique, Heterozygous Germline Mutation, STK11 (p.F354L), in a Child with an Encapsulated Follicular Variant of Papillary Thyroid Carcinoma within Six Months of Completing Treatment for Neuroblastoma.6
265955242015Genomic binding and regulation of gene expression by the thyroid carcinoma-associated PAX8-PPARG fusion protein.5
254877392015Laser capture microdissection is a valuable tool in the preoperative molecular screening of follicular lesions of the thyroid: an institutional experience.5
221799752012Detection of PAX8-PPARG fusion transcripts in archival thyroid carcinoma samples by conventional RT-PCR.5
217636312011On the prevalence of the PAX8-PPARG fusion resulting from the chromosomal translocation t(2;3)(q13;p25) in adenomas of the thyroid.5
199631302010Fluorescence in situ hybridization analysis using PAX8- and PPARG-specific probes reveals the presence of PAX8-PPARG translocation and 3p25 aneusomy in follicular thyroid neoplasms.4
312930912019Hürthle cell lesions on thyroid fine needle aspiration cytology: Molecular and histologic correlation.3
228952752012Simultaneous occurrence of PAX8-PPARg and RET-PTC3 rearrangements in a follicular variant of papillary thyroid carcinoma.3
343139652021High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid.2
286126120[Molecular Aspects of Thyroid Tumors with Emphasis on MicroRNA and Their Clinical Implications].2
245103802014Optimizing detection of RET and PPARg rearrangements in thyroid neoplastic cells using a home-brew tetracolor probe.2
352927862022Relationship of PPARG overexpression with prognostic parameters in papillary thyroid carcinoma.1
321329762020A Novel Risk Stratification System for Thyroid Nodules With Indeterminate Cytology-A Pilot Cohort Study.1
245701922014[Fine-needle aspiration cytology of thyroid nodules: molecular diagnostics in a routine diagnostic setting].1
239664192013Genetic alterations in thyroid tumors from patients irradiated in childhood for tinea capitis treatment.1
354667522022Spindle Cell/Sclerosing Rhabdomyosarcoma With PAX8::PPARG Fusion.0
352560552022Testing of mutations on thyroid nodules with indeterminate cytology: A prospective study of 112 patients in Argentina.0
346803322021Molecular Signature Expands the Landscape of Driver Negative Thyroid Cancers.0
341724332021Testing of mutations on thyroid nodules with indeterminate cytology: A prospective study of 112 patients in Argentina.0
341787132021Hyperfunctioning Papillary Thyroid Carcinoma with a BRAF Mutation: The First Case Report and a Literature Review.0

Bibliography

Pubmed IDLast YearTitleAuthors
109587842000PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma [corrected].Kroll TG et al
121615382002Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas.Marques AR et al
228952752012Simultaneous occurrence of PAX8-PPARg and RET-PTC3 rearrangements in a follicular variant of papillary thyroid carcinoma.Caria P et al
237386832013Diagnostic and prognostic implications of the PAX8-PPARγ translocation in thyroid carcinomas-a TMA-based study of 226 cases.Boos LA et al

Citation

Jean-Loup Huret ; Philippe Dessen

t(2;3)(q13;p25) PAX8/PPARG

Atlas Genet Cytogenet Oncol Haematol. 0000-00-00

Online version: http://atlasgeneticsoncology.org/solid-tumor/105435/t(2;3)(q13;p25)-pax8-pparg