Expression of PAX8-PPARγ1 Rearrangements in Both Follicular Thyroid Carcinomas and Adenomas

Marques, Ana Rita; Espadinha, Carla; Catarino, Ana; Moniz, Sónia; Pereira, Teresa; Sobrinho, L. G.; Leite, Valeriano

doi:10.1210/jcem.87.8.8756

Cited by 108 publications

(44 citation statements)

References 13 publications

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“…Chromosomal translocations involving PAX3, PAX5, PAX7 or PAX8 genes in alveolar rhabdomyosarcoma, B-lymphoid malignancies, or thyroid cancer, respectively, suggest that PAX genes have an oncogenic capacity when constitutively expressed, either as part of a fusion gene, or as a whole gene (Barr et al, 1993;Davis et al, 1994;Morrison et al, 1998a;Kroll et al, 2000;Cazzaniga et al, 2001;Marques et al, 2002). In addition, PAX genes are persistently expressed in several embryonal tumors (Dressler and Douglass, 1992;Eccles et al, 1992Eccles et al, , 1995Bernasconi et al, 1996) and adult tumors (Fabbro et al, 1994;Gnarra and Dressler, 1995;Stuart et al, 1995b;Scholl et al, 2001;Silberstein et al, 2002), and reduced survival has been observed in rhabdomyosarcoma or melanoma cell lines following treatment with PAX3 antisense oligonucleotides (Bernasconi et al, 1996;Scholl et al, 2001).…”

Section: Introductionmentioning

confidence: 99%

Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival

et al. 2003

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The paired-box (PAX) genes encode a family of nine wellcharacterized paired-box transcription factors, with important roles in development and disease. Although PAX genes are primarily expressed in the embryo, constitutive expression promotes tissue hyperplasia. Rare tumorspecific mutations of PAX genes implicate an oncogenic role, and persistent PAX expression characterizes several tumors. Yet, a cancer-wide analysis of PAX gene expression to investigate a general role for PAX genes has not been performed. We analysed the pattern and requirement for PAX gene expression in a panel of common cancer cell lines. Very frequent PAX gene expression was identified in tumor cell lines, including lymphoma, breast, ovarian, lung, and colon cancer. In addition, the PAX2 gene was frequently expressed in a panel of 406 common primary tumor tissues. Apoptosis was rapidly induced in ovarian and bladder cancer cell lines following RNA interference to silence PAX2 expression, despite concomitant TP53 and/or HRAS mutations. These data suggest that PAX genes are frequently expressed in cancer, and that endogenous PAX gene expression is required for the growth and survival of cancer cells.

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Section: Introductionmentioning

confidence: 99%

Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival

et al. 2003

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“…PAX8-PPARg rearrangements have been demonstrated in FTCs and follicular adenomas, but not in other types of thyroid tumors or hyperplastic nodules Marques et al, 2002;Nikiforova et al, 2002Nikiforova et al, , 2003Cheung et al, 2003;Dwight et al, 2003). Screening of large tumor series has identified PAX8-PPARg in 29-62% of FTCs and much less frequently in adenomas.…”

Section: Introductionmentioning

confidence: 99%

Expression profiling reveals a distinct transcription signature in follicular thyroid carcinomas with a PAX8-PPARγ fusion oncogene

et al. 2004

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“…Rearrangements involving PAX-8 and PPARg were reported by Kroll et al (2000) as specific for FTC (63% of the cases). More recently, PAX8/PPARg was detected by RT-PCR in 25-56% of FTC and in 0-13% of follicular adenomas (Marques et al, 2002;Nikiforova et al, 2002). Mutations of one of the three RAS genes have been reported in 18-52% of FTC and in 24-53% of follicular adenomas (Nikiforova et al, 2002).…”

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confidence: 99%

BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC

et al. 2003

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Rearrangement of RET proto-oncogene is the major event in the etiopathogenesis of papillary thyroid carcinoma (PTC). We report a high prevalence of BRAF V599E mutation in sporadic PTC and in PTC-derived cell lines. The BRAF V599E mutation was detected in 23 of 50 PTC (46%) and in three of four PTC-derived cell lines. The prevalence of the BRAF V599E mutation in PTC is the highest reported to date in human carcinomas, being only exceeded by melanoma. PTC with RET/PTC rearrangement as well as the TPC-1 cell line (the only one harboring RET/PTC rearrangement) did not show the BRAF V599E mutation. BRAF V599E mutation was not detected in any of 23 nodular goiters, 51 follicular adenomas and 18 follicular carcinomas. A distinct mutation in BRAF (codon K600E) was detected in a follicular adenoma. Activating mutations in RAS genes were detected in 15% of FA, 33% of FTC and 7% of PTC. BRAF V599E mutation did not coexist with alterations in any of the RAS genes in any of the tumors. These results suggest that BRAF V599E mutation is frequent in the etiopathogenesis of PTC. The BRAF V599E mutation appears to be an alternative event to RET/PTC rearrangement rather than to RAS mutations, which are rare in PTC. BRAF V599E may represent an alternative pathway to oncogenic MAPK activation in PTCs without RET/PTC activation.

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Expression of PAX8-PPARγ1 Rearrangements in Both Follicular Thyroid Carcinomas and Adenomas

Cited by 108 publications

References 13 publications

Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival

Paired-Box genes are frequently expressed in cancer and often required for cancer cell survival

Expression profiling reveals a distinct transcription signature in follicular thyroid carcinomas with a PAX8-PPARγ fusion oncogene

BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC

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