The authors have no conflicts of interest to disclose.
Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association†
Article first published online: 16 SEP 2009
Copyright © 2009 Wiley-Liss, Inc.
Pediatric Blood & Cancer
Volume 54, Issue 1, pages 154–157, January 2010
How to Cite
McDonald, S., Wilson, D. B., Pumbo, E., Kulkarni, S., Mason, P. J., Else, T., Bessler, M., Ferkol, T. and Shenoy, S. (2010), Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features suggestive of dyskeratosis congenita and IMAGe association. Pediatr. Blood Cancer, 54: 154–157. doi: 10.1002/pbc.22283
- Issue published online: 9 NOV 2009
- Article first published online: 16 SEP 2009
- Manuscript Accepted: 12 AUG 2009
- Manuscript Received: 23 JUN 2009
- NIH. Grant Number: CA105312
- St. Baldrick's Foundation
- Hereditary Cancer Core of the Siteman Cancer Center
- Tissue Procurement Core Siteman Cancer Center
- Genome Sequencing Center Washington University St. Louis
- adrenal cortex;
- dyskeratosis congenita;
We describe a case of acquired monosomy 7 myelodysplastic syndrome (MDS) in a boy with congenital adrenocortical insufficiency, genital anomalies, growth delay, skin hyperpigmentation, and chronic lung disease. Some of his clinical manifestations were suggestive of dyskeratosis congenita (DC), while other features resembled IMAGe association. DC has been linked to mutations in telomere maintenance genes. The genetic basis of IMAGe association is unknown, although mice harboring a mutation in a telomere maintenance gene, Tpp1, have adrenal hypoplasia congenita. We considered the possibility that this patient has a defect in telomere function resulting in features of both DC and IMAGe association. Pediatr Blood Cancer 2010; 54:154–157. © 2009 Wiley-Liss, Inc.