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Ann Oncol. 2016 May;27(5):887-95. doi: 10.1093/annonc/mdw066. Epub 2016 Feb 15.

Spectrum of clinical and genetic features of patients with inherited platelet disorder with suspected predisposition to hematological malignancies: a nationwide survey in Japan.

Author information

1
Department of Hematology and Oncology, Graduate School of Medicine, The University of Tokyo, Tokyo.
2
Department of Hematology and Oncology, University of Yamanashi, Yamanashi.
3
Department of Pediatrics, Graduate School of Medicine, Hirosaki University, Aomori.
4
Division of Hematology, Department of Internal Medicine, Keio University School of Medicine, Tokyo.
5
Department of Hematology/Oncology, Gunma Children's Medical Center, Gunma.
6
The Department of Hematology, Mitsui Memorial Hospital, Tokyo.
7
Clinical Research Center, National Hospital Organization Nagoya Medical Center, Aichi.
8
Department of Hematology, Japanese Red Cross Medical Center, Tokyo.
9
Department of Hematology, Graduate School of Medicine, Juntendo University, Tokyo Department of Hematology and Oncology, Hiroshima University, Hiroshima.
10
Department of Hematology, Graduate School of Medicine, Juntendo University, Tokyo.
11
Department of Hematology, NTT Medical Center Tokyo, Tokyo, Japan.
12
Department of Hematology and Oncology, Graduate School of Medicine, The University of Tokyo, Tokyo kurokawa-tky@umin.ac.jp.

Abstract

BACKGROUND:

Inherited thrombocytopenia (IT) contains several forms of familial thrombocytopenia and some of them have propensity to hematological malignancies. The etiological and genetic features of this heterogeneous syndrome have not yet been elucidated.

PATIENTS AND METHODS:

We conducted a nationwide survey to collect clinical information and samples from patients with familial thrombocytopenia and/or hematological malignancies in order to obtain a comprehensive understanding of IT.

RESULTS:

Among the 43 pedigrees with clinical samples, RUNX1 mutations were identified in 8 pedigrees (18.6%). While MYH9 and ANKRD26 mutations were identified in 2 and 1 pedigrees, respectively, no gene mutations were detected in the remaining 32 pedigrees from a panel of previously reported pathogenetic mutations. Clinical data were comparable between FPD/AML and non-FPD/AML probands.

CONCLUSIONS:

Our study clarified that it is unexpectedly difficult to diagnose FPD/AML based on clinical information alone, and thus, genetic testing is strongly recommended. Our survey also identified some pedigrees with a strong family history of myelodysplastic syndromes of unknown origin. Additionally, there were 14 pedigrees in which three or more members were affected by immune thrombocytopenia (ITP), and a computer-aided simulation suggested that such a distribution almost never happens by coincidence, which implicates a genetic predisposition to ITP.

KEYWORDS:

FPD/AML; RUNX1; familial myelodysplastic syndrome; immune thrombocytopenia; inherited thrombocytopenia

PMID:
26884589
DOI:
10.1093/annonc/mdw066
[Indexed for MEDLINE]

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