Wiernik Peter H, Dutcher Janice P
Cancer Research Foundation of New York, Chappaqua, NY, USA.
J Investig Med. 2024 Jan;72(1):26-31. doi: 10.1177/10815589231210516. Epub 2023 Nov 28.
Although reports of familial clustering of hematologic malignancies have appeared for decades, the cause(s) of this uncommon occurrence is still not completely understood. Most modern investigations, however, support a genetic rather than an environmental exposure as a cause of this observation. Most pedigrees of families with familial hematologic malignancies demonstrate age of onset anticipation, with the disease diagnosed at an earlier age in successive generations. The cause of this phenomenon is clear in some familial neurologic disorders (trinucleotide repeat expansion) but not at all clear in familial hematologic malignancies. In preparation for molecular studies of familial clustering of hematologic malignancies, we have collected pedigrees on 738 families and have previously demonstrated anticipation in those with familial plasma cell myeloma, chronic lymphocytic leukemia, Hodgkin lymphoma or non-Hodgkin lymphoma (NHL). Here we present data on 36 families with both plasma cell myeloma and NHL in their pedigrees and demonstrate strong evidence for anticipation in these families. We encourage all health care personnel to ask patients multiple times about family medical history and carefully take note of family histories from individuals with uncommon illnesses and to refer families with clustering of such illnesses for further investigation.
尽管血液系统恶性肿瘤家族聚集性的报道已出现数十年，但这种不常见现象的原因仍未完全明了。然而，大多数现代研究支持遗传因素而非环境暴露是导致这一现象的原因。大多数患有家族性血液系统恶性肿瘤的家族谱系显示发病年龄提前，即后代被诊断出该病的年龄越来越早。这种现象在一些家族性神经系统疾病（三核苷酸重复序列扩增）中的原因很明确，但在家族性血液系统恶性肿瘤中则完全不清楚。为了准备对血液系统恶性肿瘤家族聚集性进行分子研究，我们收集了738个家族的谱系，并且之前已证明患有家族性浆细胞骨髓瘤、慢性淋巴细胞白血病、霍奇金淋巴瘤或非霍奇金淋巴瘤（NHL）的家族存在发病年龄提前现象。在此，我们展示了36个家族谱系中同时患有浆细胞骨髓瘤和NHL的家族的数据，并证明这些家族中存在发病年龄提前的有力证据。我们鼓励所有医护人员多次询问患者的家族病史，仔细记录患有罕见疾病个体的家族病史，并将此类疾病聚集的家族转介进行进一步调查。
