کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4132938 1271399 2015 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی آسیب‌شناسی و فناوری پزشکی
پیش نمایش صفحه اول مقاله
Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome
چکیده انگلیسی

SummaryEmbryonal rhabdomyosarcoma (ERMS), a soft tissue sarcoma, is one of the most common pediatric cancers. Certain ERMSs are associated with the DICER1 syndrome, a tumor predisposition syndrome caused by germ-line DICER1 mutations. Characteristic somatic mutations have also been identified in DICER1-associated tumor types. These “hotspot” mutations affect the catalytic activity of the DICER1 ribonuclease IIIb domain. Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS harboring 2 DICER1 mutations. The girl also exhibited other DICER1 phenotypes: cystic nephroma (CN) and multinodular goiter. Somatic investigations of the CN identified a hotspot DICER1 mutation different from that in the oERMS. Significantly, the CN presented at 12 years of age, which is much older than the previously reported age range of susceptibility. This report documents the occurrence of DICER1 mutations in a case of oERMS, expanding the spectrum of DICER1-associated tumors.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Human Pathology - Volume 46, Issue 6, June 2015, Pages 917–922
نویسندگان
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