Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion: A Case Report

Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
Jana VolejnikovaVladimir Mihal

Abstract

Leri-Weill syndrome (LWS) ranks among conditions with short stature homeobox gene (SHOX) haploinsufficiency. Data on possible association of SHOX aberrations with malignant diseases are scarce. We report a unique case of an 8-year-old girl who was successfully treated for acute lymphoblastic leukemia (pre-B ALL, intermediate risk) and was subsequently diagnosed with LWS due to characteristic clinical appearance (short disproportionate stature, Madelung deformity of the wrist) and molecular genetic examination (complete deletion of SHOX). An identical SHOX deletion was identified also in the patient's mother. Leukemic cells of the patient were retrospectively examined by array comparative genomic hybridization (aCGH), which revealed five regions of deletions at chromosome X, including the SHOX gene locus. Growth retardation in children with hemato-oncologic malignancies cannot always be attributed to cytotoxic treatment and should be carefully evaluated, especially with regards to growth hormone therapy.

References

May 20, 1998·Nature Genetics·V BelinV Cormier-Daire
Oct 16, 1999·American Journal of Human Genetics·M Horwitz, P H Wiernik
Mar 13, 2002·The Journal of Clinical Endocrinology and Metabolism·Gudrun A RappoldTsutomu Ogata
Apr 7, 2006·Journal of Medical Genetics·C HuberUNKNOWN French SHOX GeNeSIS Module
Dec 22, 2006·Journal of Medical Genetics·Gudrun RappoldBeate Niesler
Apr 23, 2011·Trends in Endocrinology and Metabolism : TEM·Anna L MitchellRichard Quinton
Jun 23, 2011·Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer·Christoph KneipDimo Dietrich
Feb 22, 2012·Proceedings of the National Academy of Sciences of the United States of America·Jens G LohrTodd R Golub
Aug 12, 2014·Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology·Atsuhito SekiMaki Fukami
Mar 18, 2016·British Journal of Cancer·Javaid IqbalUNKNOWN Hereditary Breast Cancer Research Group

❮ Previous
Next ❯

Citations

Aug 24, 2019·Current Osteoporosis Reports·Pushpanathan Muthuirulan, Terence D Capellini

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.