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Frequently Delayed Diagnosis and Misdiagnosis in MYH9-related Disorders: Data from Genetically Confirmed Cases of Korean Patients

Laboratory Medicine Online 2019년 9권 4호 p.224 ~ 231
 ( Park Chang-Hun ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics

 ( Kim Young-Eun ) - Hanyang University College of Medicine Department of Laboratory Medicine
 ( Lee Ki-O ) - Samsung Medical Center Samsung Biomedical Research Institute
김선희 ( Kim Sun-Hee ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics
 ( Oh Kook-Hwan ) - Seoul National University College of Medicine Seoul National University Hospital Department of Internal Medicine
 ( Kim In-Ho ) - Seoul National University College of Medicine Seoul National University Hospital Department of Internal Medicine
 ( Oh Do-Yeun ) - CHA University School of Medicine Department of Internal Medicine
 ( Kim Hee-Jin ) - Sungkyunkwan University School of Medicine Samsung Medical Center Department of Laboratory Medicine and Genetics

Abstract


MYH9-related disorders (MYH9RD) are autosomal-dominant disorders characterized by macrothrombocytopenia with or without leukocyte inclusion bodies or extra-hematological features, such as sensorineural deafness and renal impairment. MYH9RD can be misdiagnosed as an acquired form of thrombocytopenia including immune thrombocytopenic purpura (ITP). This leads to delayed diagnosis or administration of ineffective treatment. In the present study, we investigated the clinical and molecular characteristics of five unrelated Korean patients with MYH9RD and their family members, from four institutions. We reviewed clinical and laboratory data including extra-hematological manifestations. MYH9 pathogenic variants were detected by direct sequencing in all probands and the affected family members (N=10): two probands with c.5521G>A (p.Glu1841Lys) and one proband each with c.99G>T (p.Trp33Cys), c.287C>T (p.Ser96Leu), and c.3493C>T (p.Arg1165Cys). All patients had macrothrombocytopenia. Only the proband with Ser96Leu had extra-hematological manifestations. Past history revealed that two patients had been misdiagnosed with ITP and one of them had received a splenectomy. We validated the frequency of misdiagnosis (~20%) and genotype-phenotype correlations through a comprehensive review of previously reported cases of MYH9RD in Korea. It is important to suspect MYH9RD in patients with thrombocytopenia, and timely identification of macrothrombocytopenia and MYH9 pathogenic variants is required for early and accurate diagnosis of MYH9RD.

키워드

MYH9; Pathogenic variant; Macrothrombocytopenia; Korean
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