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Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases.

先天性血小板减少症的骨髓形态学和疾病进展:8例临床病理与遗传学检查详述

Tsang HC,Bussel JB,Mathew S,Liu YC,Imahiyerobo AA,Orazi A,Geyer JT
阅读:1301 Modern PathologyApr 2017; 30 (4): 472 - 629:486-498 

Abstract

Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed. Six adult and two pediatric patients were identified (six male, two female). Age range at first biopsy was 1-47 (median, 31) years. Underlying diseases included thrombocytopenia-absent radius syndrome, congenital thrombocytopenia with radial-ulnar synostosis, MYH9-related disorder, shortened telomere syndrome, congenital thrombocytopenia with ANKRD26 mutation, and familial platelet disorder with predisposition to acute myeloid leukemia. Four patients had myelodysplastic/myeloproliferative neoplasm-like marrow changes such as hypercellularity, increased myeloid to erythroid ratio, numerous micromegakaryocytes (highlighted by CD42b), and marrow fibrosis. Two patients had marrow hypoplasia and two had unremarkable marrow morphology. Three patients-all in the myelodysplastic/myeloproliferative neoplasm-like group-developed disease progression characterized by erythroid and myeloid dysplasia, elevated bone marrow blasts, and new cytogenetic abnormalities. Unlike non-familial myeloid neoplasms, congenital thrombocytopenia patients in the myelodysplastic/myeloproliferative neoplasm-like group had a long and indolent clinical course (average age at disease progression, 47 years). In summary, three distinct morphologic types of congenital thrombocytopenia were identified: a hyperplastic myelodysplastic/myeloproliferative neoplasm-like group, a hypoplastic bone marrow failure-like group, and a group with relatively normal marrow morphology. Emergence of cytogenetic abnormalities and dysplasia in non-megakaryocyte lineages correlated with disease progression.

摘要

患有先天性血小板减少症的患者骨髓肿瘤的患病率明显升高。这样的病例中,通过形态学区分疾病初期和进展期极具挑战性。本研究通过长期随访一个转诊中心的患者资料来分析先天性血小板减少症的临床病理特征。我们对过去20年的先天性血小板减少症(包括骨髓活检和外周血涂片诊断)病例的临床特征、形态学、免疫表型、分子特征进行分析。其中包括6名成人和2名儿童患者(6名男性,2名女性)。这些患者第一次活检年龄1-47岁(中位数31岁)。基础疾病包括:血小板减少伴桡骨缺失综合征、血小板减少伴桡-尺骨联合、MYH9相关性血小板减少、端粒缩短综合症、ANKRD26突变相关先天性血小板减少症以及患有急性髓性白血病的家族性血小板障碍。这些患者中四例患有骨髓增生异常/骨髓增殖性肿瘤,包括细胞数目增多如髓系、红系比例增加,巨核细胞(高表达CD42b)数目增多以及骨髓纤维化。两例患者骨髓发育不全,另外2例患有骨髓形态异常。患有骨髓增生异常/骨髓增殖性肿瘤的三例患者都表现出红细胞和骨髓发育不良、骨髓原始细胞增多以及新的细胞遗传学异常。与非家族性髓系肿瘤相比,先天性血小板减少症患者骨髓增生异常/骨髓增殖性肿瘤具有一个相对长期和缓慢的临床过程(疾病出现进展的平均年龄为47岁)。综上所述,先天性血小板减少症按照形态类型可分为三组:骨髓增生异常/骨髓增殖性肿瘤组、骨髓衰竭组及骨髓细胞相对正常组。非巨核细胞谱系中细胞遗传异常和发育不良与疾病进展有关。

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