快讯血统中有多人患急性白血病的家族。

IF 2.5 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL
Journal of Investigative Medicine Pub Date : 2024-12-01 Epub Date: 2024-08-19 DOI:10.1177/10815589241262735
Peter H Wiernik, Matthew P Blakley, Janice P Dutcher
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引用次数: 0

摘要

本文介绍了 41 个家族的多例新发急性髓细胞白血病(AML)、B 细胞急性淋巴细胞白血病(B-ALL)或同时患有这两种疾病。这些家庭是从医生、遗传咨询师和其他来源随机收集的。收集并审查了所有家庭的医疗记录。在 17 个家庭中,父母和子女均患有急性白血病,其中 15 对父母和子女的性别相同。在 6 个家庭中发现了 9 对祖孙患有急性髓细胞性白血病,其中 6 对也是同性。预知是这些多代组合的共同特征。有 20 个家庭的多个兄弟姐妹(无双胞胎)患有急性白血病。其中包括 16 对兄弟姐妹和 4 对三代兄弟姐妹。AML-AML组和B-ALL-B-ALL组中每对兄弟姐妹的年龄一般大致相同。奇怪的是,AML-B-ALL 组的情况并非如此。在 41 个家族中,有 4 个家族有一个以上的家族关系类别。尽管家族性急性白血病的遗传通常与常染色体显性遗传模式一致,但这些数据表明,在某些病例中可能涉及一个 X 染色体基因,也许就像我们在家族性霍奇金淋巴瘤中报道的那样,该基因位于 X 染色体的假常染色体区。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Families with multiple individuals with acute leukemia in their pedigrees.

Forty-one families with multiple cases of de novo acute myeloid leukemia (AML), B-cell acute lymphocytic leukemia (B-ALL), or both are presented. The families were randomly collected from physicians, genetic counselors, and other sources. Medical records were collected and reviewed for all families. In 17 of the families, a parent and child with acute leukemia were identified; and in 15 of the pairs, the parent and child were of the same sex. Nine grandparent-grandchild affected pairs with AML-AML were identified, occurring in six families, and six of those pairs were also of the same sex. Anticipation was a common feature of these multigenerational pairs. Twenty families were identified with multiple siblings (none twins) with acute leukemia. This includes 16 sibling pairs and 4 sibling triples. The members of each sibling pair in the AML-AML group and in the B-ALL-B-ALL group were generally of roughly the same age. Curiously, this is not true of those in the AML-B-ALL group. Four of the 41 families had contributions to more than 1 family relationship category. Although inheritance in familial acute leukemia has usually been consistent with an autosomal dominant pattern, these data suggest that an X chromosome gene may be involved in some cases, perhaps in the pseudoautosomal region of the X chromosome as we have reported in familial Hodgkin lymphoma.

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来源期刊
Journal of Investigative Medicine
Journal of Investigative Medicine 医学-医学:内科
CiteScore
4.90
自引率
0.00%
发文量
111
审稿时长
24 months
期刊介绍: Journal of Investigative Medicine (JIM) is the official publication of the American Federation for Medical Research. The journal is peer-reviewed and publishes high-quality original articles and reviews in the areas of basic, clinical, and translational medical research. JIM publishes on all topics and specialty areas that are critical to the conduct of the entire spectrum of biomedical research: from the translation of clinical observations at the bedside, to basic and animal research to clinical research and the implementation of innovative medical care.
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