How to cite this article: Basel-Vanagaite L. 2010. Acute lymphoblastic leukemia in Weaver syndrome. Am J Med Genet Part A 152A:383–386.
Acute lymphoblastic leukemia in Weaver syndrome†
Article first published online: 25 JAN 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 2, pages 383–386, February 2010
How to Cite
Basel-Vanagaite, L. (2010), Acute lymphoblastic leukemia in Weaver syndrome. Am. J. Med. Genet., 152A: 383–386. doi: 10.1002/ajmg.a.33244
- Issue published online: 25 JAN 2010
- Article first published online: 25 JAN 2010
- Manuscript Accepted: 2 NOV 2009
- Manuscript Received: 1 AUG 2009
- Weaver syndrome;
- acute lymphoblastic leukemia
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 -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. © 2010 Wiley-Liss, Inc.