2017年3月
Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities
HUMAN PATHOLOGY
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- 巻
- 61
- 号
- 開始ページ
- 205
- 終了ページ
- 209
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1016/j.humpath.2016.06.024
- 出版者・発行元
- W B SAUNDERS CO-ELSEVIER INC
Anaplastic sarcoma of the kidney (ASK) is a tumor found in the pediatric age group and shows many histopathological similarities to pleuropulmonary blastoma (PPB). We present a 12-year-old girl diagnosed with ASK and, 3 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 lIlb. Single -nucleotide polymorphism genotyping microarray revealed independent copy number alterations (trisomy 8, monosomy 10, loss of 17p, and partial gain of 17q in ASK; trisomy 5 and partial loss of Xq in TFC). The copy number alteration pattern of ASK was similar to the pattern previously reported in PPB. The present case implies that ASK is a renal counterpart of PPB and that ASK with DICER1 abnormalities should be suspected in a broader age group than PPB. (C) 2017 Elsevier Inc. All rights reserved.
- リンク情報
- ID情報
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- DOI : 10.1016/j.humpath.2016.06.024
- ISSN : 0046-8177
- eISSN : 1532-8392
- PubMed ID : 27697588
- Web of Science ID : WOS:000397171800025