Department of Medicine III, University Hospital Munich, Ludwig-Maximilians-University Munich-Campus Großhadern, Munich, Germany.
Institute of Human Genetics, University Hospital Munich, Ludwig-Maximilians-University Munich, Munich, Germany.
PLoS One. 2019 Apr 18;14(4):e0215453. doi: 10.1371/journal.pone.0215453. eCollection 2019.
The revised World Health Organization classification of 2016 for myeloid neoplasms and acute leukemia added a section of myeloid neoplasms with germline predisposition. The main objective of our study was to evaluate the frequency of hematologic and solid malignancies in the family history of patients with acute myeloid leukemia (AML) by using a systemic pedigree interview. The family history was taken of 50 patients between 24 and 80 years.
8/50 (16%) patients with AML had family members with hematologic malignancies. 2/50 (4%) patients had family members of first degree with hematologic malignancies. Furthermore in 42/50 (84%) of AML patients solid malignancies were documented in family members of any degree and in 31/50 (62%) in family members of first degree. The most commonly occurring malignancies in our cohort were breast and colorectal cancer. We analyzed the pedigrees for cancer syndromes that can be associated with acute leukemia like Li-Fraumeni syndrome, Lynch syndrome and hereditary breast cancer. 2/50 (4%) patients fulfilled the criteria for familial breast and ovarian cancer from the German consortium and 1/50 (2%) patients fulfilled the Bethesda Guidelines criteria for hereditary nonpolyposis colorectal cancer. No pedigree met the criteria for Li-Fraumeni syndrome. In 29 cases we compared the patient history obtained in the routine work-up with our data. The accuracy of the obtained family history was 23%, outlining that in the clinical routine information about family histories often escapes notice.
Our study shows that though generally considered a sporadic disease, the presence of hematologic and solid malignancies in the family history of AML patients is relatively high. One should keep in mind that cancer syndromes like hereditary breast cancer are associated with a higher incidence of leukemia. These data are relevant in the context of family donor search for allogeneic stem cell transplantation, genetic counseling and testing as well as cancer prevention.
2016 年修订的世界卫生组织（WHO）髓系肿瘤和急性白血病分类增加了一个具有种系易感性的髓系肿瘤章节。我们研究的主要目的是通过系统的家系访谈评估急性髓系白血病（AML）患者家族史中血液系统和实体恶性肿瘤的频率。我们对 50 名年龄在 24 至 80 岁之间的患者进行了家族史调查。
50 例 AML 患者中，8/50（16%）有血液系统恶性肿瘤家族史。2/50（4%）有一级亲属血液系统恶性肿瘤家族史。此外，在 42/50（84%）AML 患者的任何程度的一级亲属中均有实体恶性肿瘤，在 31/50（62%）的一级亲属中也有实体恶性肿瘤。我们队列中最常见的恶性肿瘤是乳腺癌和结直肠癌。我们分析了可能与急性白血病相关的癌症综合征（如 Li-Fraumeni 综合征、Lynch 综合征和遗传性乳腺癌）的家系。2/50（4%）例患者符合德国联合研究的家族性乳腺癌和卵巢癌标准，1/50（2%）例患者符合遗传性非息肉病性结直肠癌的 Bethesda 指南标准。没有家系符合 Li-Fraumeni 综合征标准。在 29 例中，我们将在常规工作中获得的患者病史与我们的数据进行了比较。获得的家族史的准确性为 23%，这表明在临床常规中，有关家族史的信息经常被忽视。
我们的研究表明，尽管 AML 通常被认为是一种散发性疾病，但 AML 患者家族史中血液系统和实体恶性肿瘤的存在相对较高。人们应该记住，遗传性乳腺癌等癌症综合征与白血病的发病率较高相关。这些数据与异基因造血干细胞移植、遗传咨询和检测以及癌症预防相关的家族供者搜索有关。
