RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas

• Published in: Histopathology Vol. 61; no. 5; pp. 833 - 843
• Main Authors: de Vries, Margriet M, Celestino, Ricardo, Castro, Patricia, Eloy, Catarina, Máximo, Valdemar, van der Wal, Jacqueline E, Plukker, John T M, Links, Thera P, Hofstra, Robert M W, Sobrinho-Simões, Manuel, Soares, Paula
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.11.2012; Blackwell; Wiley Subscription Services, Inc
• Subjects: Adenoma, Oxyphilic - genetics; Adenoma, Oxyphilic - pathology; Adult; Aged; Aged, 80 and over; Biological and medical sciences; Female; follicular carcinoma; Gene Rearrangement; Genes, ras; genetics; Humans; Hürthle; In Situ Hybridization, Fluorescence; Investigative techniques, diagnostic techniques (general aspects); Male; Medical sciences; Middle Aged; Mutation; Oncogene Proteins, Fusion - genetics; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Protein-Tyrosine Kinases - genetics; Proto-Oncogene Proteins B-raf - genetics; Proto-Oncogene Proteins c-ret - genetics; Proto-Oncogene Proteins p21(ras) - genetics; RET/PTC; thyroid; Thyroid Neoplasms - genetics; Thyroid Neoplasms - pathology; Anatomic pathology; RET/PTC; Endocrine gland; Prevalence; thyroid; Follicular cell; Gene rearrangement; Genetics; Hürthle; Thyroid gland; Follicular carcinoma
• ISSN: 0309-0167; 1365-2559
• DOI: 10.1111/j.1365-2559.2012.04276.x

de Vries M M, Celestino R, Castro P, Eloy C, Máximo V, van der Wal J E, Plukker J T M, Links T P, Hofstra R M W, Sobrinho‐Simões M & Soares P 
(2012) Histopathology 61, 833–843 RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas Aims:  The molecular alterations underlying follicular Hürthle cell carcinomas (FHCCs) are largely unknown. In an attempt to clarify this issue, we analysed a series of Hürthle cell tumours for the presence of RET/PTC and PAX8/PPARG rearrangements and BRAF, HRAS and NRAS mutations. Methods and results:  We investigated a series of 20 follicular Hürthle cell tumours [17 FHCCs and three follicular Hürthle cell adenomas (FHCAs)]. RET/PTC rearrangements were found in 33% of FHCAs and in 38% of FHCCs. All RET/PTC‐positive FHCCs had a solid pattern of growth. PAX8/PPARG rearrangement was present in 27% of the FHCCs which displayed, in most cases, a follicular architecture. NRAS mutation was detected in one FHCC. An FHCC with a solid/microfollicular growth pattern scored positive for both RET/PTC and PAX8/PPARG rearrangement. Conclusions:  Our study has shown a significant association between RET/PTC rearrangements and FHCCs with a solid growth pattern, thus raising the possibility of using tyrosine kinase inhibitors for the treatment of patients with FHCCs, which are often refractory to radioiodine treatment.