Elkattawy Sherif, Ayad Sarah, El-Feki Iman, Guo Xutong, Appiah-Kubi Edmund, Talpur Afrah, Kessler William
Internal Medicine, Rutgers-New Jersey Medical School/Trinitas Regional Medical Center, Elizabeth, USA.
Internal Medicine, St. George's University, West Indies, GRD.
Cureus. 2021 Aug 26;13(8):e17466. doi: 10.7759/cureus.17466. eCollection 2021 Aug.
Myelodysplastic syndromes (MDS) are a diverse group of hematopoietic stem cell malignancies with various phenotypic variability that are categorized by abnormal differentiation of one or multiple cell lines of the bone marrow. A large part of the phenotypic heterogeneity is in part due to the wide set of genetic defects related to MDS. Though clinically, MDS is centered on diagnostic measures that do not incorporate molecular genetic data, an isolated deletion of the long arm of chromosome 5 (del(5q)) is the only subset of MDS to be identified by genetic defects. This distinctive phenotype is termed 5q-syndrome. We report a case of a 25-year-old with a past medical history of polydactyly, severe anemia, and thrombocytopenia who presented to the emergency department with a chief complaint of weakness and fatigue. Bone marrow biopsy showed myeloid neoplasm with complex genetic abnormalities, nearly 100% hyperplastic marrow with marked trilineage dysplasia, relative myeloid hyperplasia with increased abnormal eosinophilic precursors, erythroid left shift, and atypical megakaryocytes. Fluorescence in situ hybridization (FISH) panel showed deletion of 5q-. Herein, we address the clinical course and morphological characteristics as well as possible therapeutic options for 5q syndrome.
骨髓增生异常综合征（MDS）是一组异质性造血干细胞恶性肿瘤，具有多种表型变异，根据骨髓中一个或多个细胞系的异常分化进行分类。表型异质性的很大一部分部分归因于与MDS相关的广泛遗传缺陷。虽然临床上，MDS主要基于不纳入分子遗传学数据的诊断措施，但5号染色体长臂的孤立缺失（del(5q)）是唯一通过遗传缺陷鉴定的MDS亚组。这种独特的表型被称为5q综合征。我们报告一例25岁患者，既往有多指畸形、严重贫血和血小板减少病史，因乏力和疲劳为主诉就诊于急诊科。骨髓活检显示髓系肿瘤伴复杂基因异常，骨髓近100%增生，有明显的三系发育异常，相对髓系增生伴异常嗜酸性前体细胞增多、红系左移和非典型巨核细胞。荧光原位杂交（FISH）检测显示5q-缺失。在此，我们阐述5q综合征的临床病程、形态学特征以及可能的治疗选择。
