title: Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities.
abstract: 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 IIIb. 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.
authors.affiliation: Department of Pathology, Kanagawa Children's Medical Center, Kanagawa 232-8555, Japan; Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.
authors.forename: Misa
authors.initials: M
authors.lastname: Yoshida
authors.affiliation: Department of Hematology/Oncology and Regenerative Medicine, Kanagawa Children's Medical Center, Kanagawa 232-8555, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Hamanoue
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.
authors.forename: Masafumi
authors.initials: M
authors.lastname: Seki
authors.affiliation: Department of Pathology, Kanagawa Children's Medical Center, Kanagawa 232-8555, Japan.
authors.forename: Mio
authors.initials: M
authors.lastname: Tanaka
authors.affiliation: Department of Pathology and Tumor Biology, Kyoto University, Kyoto 606-8501, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Yoshida
authors.affiliation: Department of Hematology/Oncology and Regenerative Medicine, Kanagawa Children's Medical Center, Kanagawa 232-8555, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Goto
authors.affiliation: Department of Pathology and Tumor Biology, Kyoto University, Kyoto 606-8501, Japan.
authors.forename: Seishi
authors.initials: S
authors.lastname: Ogawa
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Takita
authors.affiliation: Department of Pathology, Kanagawa Children's Medical Center, Kanagawa 232-8555, Japan. Electronic address: ytanaka@kcmc.jp.
authors.forename: Yukichi
authors.initials: Y
authors.lastname: Tanaka
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D014408:Biomarkers, Tumor / Q000235:genetics*; D001706:Biopsy; D002648:Child; D055028:Comparative Genomic Hybridization; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D006801:Humans; D054643:INDEL Mutation; D007680:Kidney Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D020125:Mutation, Missense; D016609:Neoplasms, Second Primary / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D043244:Ribonuclease III / Q000235:genetics*; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: D014408:Biomarkers, Tumor; C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases
keywords: Anaplastic sarcoma of the kidney; DICER1; Pleuropulmonary blastoma; RNase III; Thyroid carcinoma