Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities

We present a 12-year-old girl diagnosed with ASK and, three years later, with thyroid follicular carcinoma (TFC) with DICER1 abnormalities. Germline insertion/deletion (p.G1809_S1814delinsA) and independent somatic mutations (p.E1705K in ASK, p.E1813D in TFC) were identified. All of these abnormalities are in the catalytic domain of RNase IIIb.

Source: Human Pathology - September 29, 2016 Category: Pathology Authors: Misa Yoshida, Satoshi Hamanoue, Masafumi Seki, Mio Tanaka, Kenichi Yoshida, Hiroaki Goto, Seishi Ogawa, Junko Takita, Yukichi Tanaka Source Type: research