Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities
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....
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Yoshida, Misa [verfasserIn] |
|---|
| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2017transfer abstract |
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| Umfang: |
5 |
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| Übergeordnetes Werk: |
Enthalten in: Chronic Total Occlusion – Percutaneous Coronary Intervention (CTO-PCI) Experience in a Single, Multi-operator Australian Centre: Need for dedicated CTO-PCI programs - BoganaShanmugam, Vimalraj ELSEVIER, 2016, New York, NY [u.a.] |
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| Übergeordnetes Werk: |
volume:61 ; year:2017 ; pages:205-209 ; extent:5 |
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| DOI / URN: |
10.1016/j.humpath.2016.06.024 |
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| 520 | |a 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. | ||
| 520 | |a 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. | ||
| 700 | 1 | |a Hamanoue, Satoshi |4 oth | |
| 700 | 1 | |a Seki, Masafumi |4 oth | |
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| 700 | 1 | |a Yoshida, Kenichi |4 oth | |
| 700 | 1 | |a Goto, Hiroaki |4 oth | |
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| 700 | 1 | |a Takita, Junko |4 oth | |
| 700 | 1 | |a Tanaka, Yukichi |4 oth | |
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10.1016/j.humpath.2016.06.024 doi GBVA2017001000028.pica (DE-627)ELV030210348 (ELSEVIER)S0046-8177(16)30231-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 550 VZ 38.48 bkl 38.90 bkl 42.94 bkl Yoshida, Misa verfasserin aut Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities 2017transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 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. 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. Hamanoue, Satoshi oth Seki, Masafumi oth Tanaka, Mio oth Yoshida, Kenichi oth Goto, Hiroaki oth Ogawa, Seishi oth Takita, Junko oth Tanaka, Yukichi oth Enthalten in Elsevier BoganaShanmugam, Vimalraj ELSEVIER Chronic Total Occlusion – Percutaneous Coronary Intervention (CTO-PCI) Experience in a Single, Multi-operator Australian Centre: Need for dedicated CTO-PCI programs 2016 New York, NY [u.a.] (DE-627)ELV019059760 volume:61 year:2017 pages:205-209 extent:5 https://doi.org/10.1016/j.humpath.2016.06.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO GBV_ILN_60 38.48 Marine Geologie VZ 38.90 Ozeanologie Ozeanographie VZ 42.94 Meeresbiologie VZ AR 61 2017 205-209 5 045F 610 |
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10.1016/j.humpath.2016.06.024 doi GBVA2017001000028.pica (DE-627)ELV030210348 (ELSEVIER)S0046-8177(16)30231-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 550 VZ 38.48 bkl 38.90 bkl 42.94 bkl Yoshida, Misa verfasserin aut Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities 2017transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 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. 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. Hamanoue, Satoshi oth Seki, Masafumi oth Tanaka, Mio oth Yoshida, Kenichi oth Goto, Hiroaki oth Ogawa, Seishi oth Takita, Junko oth Tanaka, Yukichi oth Enthalten in Elsevier BoganaShanmugam, Vimalraj ELSEVIER Chronic Total Occlusion – Percutaneous Coronary Intervention (CTO-PCI) Experience in a Single, Multi-operator Australian Centre: Need for dedicated CTO-PCI programs 2016 New York, NY [u.a.] (DE-627)ELV019059760 volume:61 year:2017 pages:205-209 extent:5 https://doi.org/10.1016/j.humpath.2016.06.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO GBV_ILN_60 38.48 Marine Geologie VZ 38.90 Ozeanologie Ozeanographie VZ 42.94 Meeresbiologie VZ AR 61 2017 205-209 5 045F 610 |
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10.1016/j.humpath.2016.06.024 doi GBVA2017001000028.pica (DE-627)ELV030210348 (ELSEVIER)S0046-8177(16)30231-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 550 VZ 38.48 bkl 38.90 bkl 42.94 bkl Yoshida, Misa verfasserin aut Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities 2017transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 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. 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. Hamanoue, Satoshi oth Seki, Masafumi oth Tanaka, Mio oth Yoshida, Kenichi oth Goto, Hiroaki oth Ogawa, Seishi oth Takita, Junko oth Tanaka, Yukichi oth Enthalten in Elsevier BoganaShanmugam, Vimalraj ELSEVIER Chronic Total Occlusion – Percutaneous Coronary Intervention (CTO-PCI) Experience in a Single, Multi-operator Australian Centre: Need for dedicated CTO-PCI programs 2016 New York, NY [u.a.] (DE-627)ELV019059760 volume:61 year:2017 pages:205-209 extent:5 https://doi.org/10.1016/j.humpath.2016.06.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO GBV_ILN_60 38.48 Marine Geologie VZ 38.90 Ozeanologie Ozeanographie VZ 42.94 Meeresbiologie VZ AR 61 2017 205-209 5 045F 610 |
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10.1016/j.humpath.2016.06.024 doi GBVA2017001000028.pica (DE-627)ELV030210348 (ELSEVIER)S0046-8177(16)30231-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 550 VZ 38.48 bkl 38.90 bkl 42.94 bkl Yoshida, Misa verfasserin aut Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities 2017transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 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. 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. Hamanoue, Satoshi oth Seki, Masafumi oth Tanaka, Mio oth Yoshida, Kenichi oth Goto, Hiroaki oth Ogawa, Seishi oth Takita, Junko oth Tanaka, Yukichi oth Enthalten in Elsevier BoganaShanmugam, Vimalraj ELSEVIER Chronic Total Occlusion – Percutaneous Coronary Intervention (CTO-PCI) Experience in a Single, Multi-operator Australian Centre: Need for dedicated CTO-PCI programs 2016 New York, NY [u.a.] (DE-627)ELV019059760 volume:61 year:2017 pages:205-209 extent:5 https://doi.org/10.1016/j.humpath.2016.06.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO GBV_ILN_60 38.48 Marine Geologie VZ 38.90 Ozeanologie Ozeanographie VZ 42.94 Meeresbiologie VZ AR 61 2017 205-209 5 045F 610 |
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10.1016/j.humpath.2016.06.024 doi GBVA2017001000028.pica (DE-627)ELV030210348 (ELSEVIER)S0046-8177(16)30231-3 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 550 VZ 38.48 bkl 38.90 bkl 42.94 bkl Yoshida, Misa verfasserin aut Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities 2017transfer abstract 5 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier 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. 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. Hamanoue, Satoshi oth Seki, Masafumi oth Tanaka, Mio oth Yoshida, Kenichi oth Goto, Hiroaki oth Ogawa, Seishi oth Takita, Junko oth Tanaka, Yukichi oth Enthalten in Elsevier BoganaShanmugam, Vimalraj ELSEVIER Chronic Total Occlusion – Percutaneous Coronary Intervention (CTO-PCI) Experience in a Single, Multi-operator Australian Centre: Need for dedicated CTO-PCI programs 2016 New York, NY [u.a.] (DE-627)ELV019059760 volume:61 year:2017 pages:205-209 extent:5 https://doi.org/10.1016/j.humpath.2016.06.024 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GGO GBV_ILN_60 38.48 Marine Geologie VZ 38.90 Ozeanologie Ozeanographie VZ 42.94 Meeresbiologie VZ AR 61 2017 205-209 5 045F 610 |
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Enthalten in Chronic Total Occlusion – Percutaneous Coronary Intervention (CTO-PCI) Experience in a Single, Multi-operator Australian Centre: Need for dedicated CTO-PCI programs New York, NY [u.a.] volume:61 year:2017 pages:205-209 extent:5 |
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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. |
| abstractGer |
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. |
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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. |
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Metachronous anaplastic sarcoma of the kidney and thyroid follicular carcinoma as manifestations of DICER1 abnormalities |
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