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首页> 外文期刊>American journal of medical genetics, Part A >Acute lymphoblastic leukemia in Weaver syndrome.
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Acute lymphoblastic leukemia in Weaver syndrome.

机译：韦弗综合症的急性淋巴细胞白血病。

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Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance and developmental delay; it is a generally sporadic disorder, although autosomal dominant inheritance has been reported. Some of the manifestations characterize both the Weaver and Sotos syndrome, and distinction between the two is mainly by clinical examination and molecular testing. Most of the patients with Sotos syndrome have NSD1 gene deletions or mutations; however, the molecular basis of most of the Weaver syndrome patients is unknown. Patients with overgrowth syndromes have an increased frequency of tumors; the risk in Sotos syndrome patients has been estimated to be about 2-3%, with leukemia and lymphoma accounting for 44% of the malignancies. We report on a 4(1/2)-year-old girl with typical Weaver syndrome who developed acute lymphoblastic leukemia, an association not previously reported, and review the reported cases of Weaver syndrome patients who developed malignancies. Malignancy in Weaver syndrome has been reported previously in six patients. While searching the literature for all reported cases with Weaver syndrome and counting the cases with malignancy, we found that the frequency of tumors or hematologic malignancy was 10.9%. This is likely to be an overestimate, biased by failure to report cases without tumors and by over-reporting cases with this rare association. While the presence of acute lymphoblastic leukemia in our patient might be incidental, we cannot exclude a possible causative association between Weaver syndrome and hematologic malignancy.
机译：韦弗综合症包括产前和产后过度生长，骨成熟加速，颅面特征性发育和发育延迟。尽管已经报道了常染色体显性遗传，但它是一种普遍的散发性疾病。 Weaver和Sotos综合征同时具有某些特征，两者之间的区别主要在于临床检查和分子检测。大多数Sotos综合征患者都有NSD1基因缺失或突变。然而，大多数韦弗氏综合症患者的分子基础尚不清楚。过度生长综合征患者的肿瘤发生率增加;据估计，Sotos综合征患者的风险约为2-3％，白血病和淋巴瘤占恶性肿瘤的44％。我们报告了一名4（1/2）岁患有典型的Weaver综合征的女孩，该女孩发生了急性淋巴细胞白血病，这是以前未曾报道过的关联，并回顾了已报告的发生恶性肿瘤的Weaver综合征患者的病例。以前有6位患者报道了Weaver综合征的恶性肿瘤。在搜索所有报道的Weaver综合征病例并计数恶性肿瘤的文献时，我们发现肿瘤或血液系统恶性肿瘤的发生率为10.9％。这很可能被高估了，因为没有报告没有肿瘤的病例和与这种罕见关联的过度报告病例有偏差。尽管我们患者中可能存在急性淋巴细胞白血病，但我们不能排除Weaver综合征与血液系统恶性肿瘤之间可能的因果关系。

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