Acute lymphoblastic leukemia in Weaver syndrome

American Journal of Medical Genetics. Part a
Lina Basel-Vanagaite

Abstract

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 t...Continue Reading

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Citations

Feb 2, 2013·Human Genetics·María Berdasco, Manel Esteller
Jan 31, 2016·European Journal of Medical Genetics·Marjolijn C J JongmansNicoline Hoogerbrugge
Dec 25, 2015·European Journal of Medical Genetics·Christian Peter KratzHélène Cavé
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Jul 28, 2016·Trends in Pharmacological Sciences·Zhichao LiuWeida Tong
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Dec 16, 2017·The Journal of Clinical Endocrinology and Metabolism·Julian C LuiJeffrey Baron
May 8, 2018·American Journal of Medical Genetics. Part a·Mari MinatogawaKenji Kurosawa
Feb 12, 2019·Pediatric Blood & Cancer·Esmee C M Kooijmans, Martine F Raphael
Jun 18, 2017·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Anita VillaniChristian P Kratz

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