Academic Journal
Simultaneous occurrence of PAX8-PPARg and RET-PTC3 rearrangements in a follicular variant of papillary thyroid carcinoma.
| العنوان: | Simultaneous occurrence of PAX8-PPARg and RET-PTC3 rearrangements in a follicular variant of papillary thyroid carcinoma. |
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| المؤلفون: | CARIA, PAOLA, DETTORI, TINUCCIA, FRAU, DANIELA VIRGINIA, VANNI, ROBERTA, Di Oto E, Morandi L, Parmeggiani A, Tallini G |
| المساهمون: | Caria, Paola, Dettori, Tinuccia, Frau, DANIELA VIRGINIA, Di Oto, E, Morandi, L, Parmeggiani, A, Tallini, G, Vanni, Roberta |
| سنة النشر: | 2012 |
| المجموعة: | Università degli Studi di Cagliari: UNICA IRIS |
| مصطلحات موضوعية: | papillary thyroid carcinoma, RET pax8/pparg |
| الوصف: | Specific genotype-phenotype correlations have been identified in conventional-type papillary thyroid carcinoma (PTC) and follicular thyroid carcinoma (FTC). In contrast, the genetic alterations underlying the pathogenesis of the follicular variant of PTC (FV-PTC), which shares some clinicopathologic and molecular features with both PTC and FTC, remain to be clarified. This entity shows a PAX8-PPARg fusion gene (associated with FTC), more frequently than BRAF or RET-PTC alterations (associated with PTC). Herein, we report, for the first time, an FV-PTC with the simultaneous occurrence of both RET-PTC and PAX8-PPARg alterations. Neoplastic cells were of the wild type for BRAF and H,K,N-RAS, had an apparently normal karyotype by conventional cytogenetics, and had a balanced genome by array comparative genomic hybridization analysis. In fact, submicroscopic chromosome rearrangements producing RET-PTC3 and PAX8-PPARg chimeric genes were found by interphase fluorescence in situ hybridization. We demonstrated that these 2 genetic alterations coexisted in the same tumor and were confined to 2 different clones. Our findings indicate that molecular heterogeneity, although an uncommon phenomenon, may occur in thyroid carcinoma and demonstrate the coexistence in a case of FV-PTC not only of the histologic but also of the molecular features of both PTC (RET-PTC) and FTC (PAX8-PPARg). |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| Relation: | info:eu-repo/semantics/altIdentifier/pmid/22895275; info:eu-repo/semantics/altIdentifier/wos/WOS:000308214100017; volume:36; issue:9; firstpage:1415; lastpage:1420; numberofpages:6; journal:THE AMERICAN JOURNAL OF SURGICAL PATHOLOGY; http://hdl.handle.net/11584/35939; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84865467518 |
| DOI: | 10.1097/PAS.0b013e318264bdd6 |
| الاتاحة: | http://hdl.handle.net/11584/35939 https://doi.org/10.1097/PAS.0b013e318264bdd6 |
| Rights: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.E5BC19A8 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1097/PAS.0b013e318264bdd6 |
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