Karki Nabin, Savage Natasha, Kutlar Abdullah
Division of Hematology/Oncology, Augusta University, Augusta, Georgia, USA.
Department of Pathology, Augusta University, Augusta, Georgia, USA.
Case Rep Oncol. 2021 Mar 12;14(1):439-445. doi: 10.1159/000512016. eCollection 2021 Jan-Apr.
Germline mutations lead to a rare form of autosomal-dominant familial thrombocytopenia with a predisposition for myeloid malignancies and are classified as distinct entities by the WHO. We report a case of B lymphoblastic leukemia developing in a patient with a familial mutation, which is a first in the literature. An -ITD mutation as well as a balanced chromosomal translocation t(1;7) was present at the time of diagnosis of leukemia, favoring the theory that additional hits or mutations are necessary for malignant transformation in patients with a germline mutation. The transformed disease runs an aggressive course compared to the same malignancy associated with a somatic mutation. Additionally, family members should be screened for the mutation, followed up clinically if they carry the mutation, and should not be used as stem cell donors to treat the affected relatives.
胚系突变导致一种罕见的常染色体显性遗传性家族性血小板减少症，易患髓系恶性肿瘤，世界卫生组织将其归类为不同的实体。我们报告了一例在患有家族性突变的患者中发生B淋巴细胞白血病的病例，这在文献中尚属首次。白血病诊断时存在-ITD突变以及平衡染色体易位t(1;7)，这支持了这样一种理论，即对于患有胚系突变的患者，恶性转化还需要额外的打击或突变。与伴有体细胞突变的相同恶性肿瘤相比，转化后的疾病病程进展迅速。此外，应对家庭成员进行该突变筛查，如果他们携带该突变则进行临床随访，并且不应将其用作干细胞供体来治疗受影响的亲属。
