Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome

• Type: Article in International Scientific Journal
• Date: 2018

Authors

Gullo, I (Author) FMUP; Batista, R (Author) Other; Rodrigues Pereira, P (Author) Other; Soares, P (Author) FMUP; Barroca, H (Author) Other; do Bom Sucesso, M (Author) Other; Sobrinho Simoes, M (Author) Other

Journal

Title: American Journal of Clinical Pathology

Vol. 149

Pages: 379-386

ISSN: 0002-9173

Publisher: Oxford University Press

Indexing

ISI Web of Knowledge - 20 Citations

Scopus - 22 Citations

Other information

Authenticus ID: P-00N-V7E

DOI: 10.1093/ajcp/aqy004

Abstract (EN): Multinodular goiter (MNG) and well-differentiated thyroid carcinoma (WDTC) are emerging phenotypes of DICER1 syndrome. Histologic and molecular findings of botryoid-type embryonal rhabdomyosarcoma (bERMS) and thyroid nodules from a 12-year-old DICER1 mutation carrier (p.Arg1060Ilefs*7) were investigated, providing interesting clues for understanding thyroid carcinogenesis. The patient had bERMS at age 7 years. The thyroid was enlarged and multinodular (61 g). Histologically, some nodules were classified as adenomatous and others as tumors with "intermediate" nuclei. One displayed vascular invasion and was classified as WDTC not otherwise specified (NOS). Somatic DICER1 mutations were identified in bERMS, two tumors with "intermediate" nuclei and WDTC. No somatic DICER1 mutations were found in adenomatous nodules. No molecular alterations were detected in BRAF600, NRAS61, HRAS12/61, KRAS12/61, TERT promoter, RET/PTC1, RET/PTC3, and PAX8/PPAR gamma. The findings obtained from this single case support the assumption that DICER1 syndrome-related WDTC NOS may develop on a background of MNG, via a stepwise process, involving DICER1 somatic mutations and additional molecular events, distinct from the classic pathways of papillary/follicular carcinoma.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 8