Király Péter Attila, Kállay Krisztián, Marosvári Dóra, Benyó Gábor, Szőke Anita, Csomor Judit, Bödör Csaba
MTA-SE Lendület Molekuláris Onkohematológia Munkacsoport, Semmelweis Egyetem, I. Patológiai és Kísérleti Rákkutató Intézet Budapest, Üllői út 26., 1085.
Gyermekhematológiai és Őssejttranszplantációs Osztály, Egyesített Szent István és Szent László Kórház Budapest.
Orv Hetil. 2016 Feb 21;157(8):283-9. doi: 10.1556/650.2016.30375.
Myelodysplastic syndrome and acute myeloid leukaemia are mainly sporadic diseases, however, rare familial cases exist. These disorders are considered rare, but are likely to be more common than currently appreciated, and are characterized by the autosomal dominant mutations of hematopoietic transcription factors. These syndromes have typical phenotypic features and are associated with an increased risk for developing overt malignancy. Currently, four recognized syndromes could be separated: familial acute myeloid leukemia with mutated CEBPA, familial myelodysplastic syndrome/acute myeloid leukemia with mutated GATA2, familial platelet disorder with propensity to myeloid malignancy with RUNX1 mutations, and telomere biology disorders due to mutations of TERC or TERT. Furthermore, there are new, emerging syndromes associated with germline mutations in novel genes including ANKRD26, ETV6, SRP72 or DDX41. This review will discuss the current understanding of the genetic basis and clinical presentation of familial leukemia and myelodysplasia.
骨髓增生异常综合征和急性髓系白血病主要为散发性疾病，但也存在罕见的家族性病例。这些疾病虽被认为罕见，但可能比目前所认识的更为常见，其特征为造血转录因子的常染色体显性突变。这些综合征具有典型的表型特征，并与发生明显恶性肿瘤的风险增加相关。目前，可区分出四种已被认可的综合征：伴有CEBPA突变的家族性急性髓系白血病、伴有GATA2突变的家族性骨髓增生异常综合征/急性髓系白血病、伴有RUNX1突变的易患髓系恶性肿瘤的家族性血小板疾病，以及由于TERC或TERT突变导致的端粒生物学障碍。此外，还有与包括ANKRD26、ETV6、SRP72或DDX41等新基因种系突变相关的新型综合征。本综述将讨论目前对家族性白血病和骨髓发育异常的遗传基础及临床表现的认识。
