| Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). | |
| | |
MedLine Citation:
|
PMID: 16679933 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
The LEOPARD syndrome is a complex of multisystemic congenital abnormalities characterized by lentiginosis, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). Mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located on chromosome 12q24.1, have been identified in 88% of patients with LEOPARD syndrome. A missense mutation (836-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in this patient and his mother with LEOPARD syndrome. This mutation is one of the two recurrent mutations most often associated with the syndrome. Leukemia has not previously been reported in patients with LEOPARD syndrome. The authors describe a 13-year-old boy diagnosed with both LEOPARD syndrome and acute myelomonocytic leukemia (AML-M4). |
| | |
Authors:
|
Canan Uçar; Umran Calýskan; Susanne Martini; Wolfram Heinritz |
Related Documents
:
|
17495353 - Mutation of the myh7 gene in a child with hypertrophic cardiomyopathy and wolff-parkins... 19261493 - A novel mutation in the g4.5 (taz) gene in a greek patient with barth syndrome. 18669973 - The myofascial compartments of the foot: a cadaver study. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Journal of pediatric hematology/oncology Volume: 28 ISSN: 1077-4114 ISO Abbreviation: J. Pediatr. Hematol. Oncol. Publication Date: 2006 Mar |
Date Detail:
|
Created Date: 2006-05-08 Completed Date: 2006-06-02 Revised Date: 2011-10-06 |
Medline Journal Info:
|
Nlm Unique ID: 9505928 Medline TA: J Pediatr Hematol Oncol Country: United States |
Other Details:
|
Languages: eng Pagination: 123-5 Citation Subset: IM |
Affiliation:
|
Pediatric Hematology Unit, Department of Pediatrics, Selçuk University, Meram Faculty of Medicine, Konya, Turkey. canan.ucar@deu.edu.tr |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adolescent Antineoplastic Combined Chemotherapy Protocols / therapeutic use Fatal Outcome Female Humans Intracellular Signaling Peptides and Proteins / genetics LEOPARD Syndrome / complications*, genetics*, physiopathology Leukemia, Myelomonocytic, Acute / complications*, genetics*, therapy Male Middle Aged Mutation, Missense Pedigree Protein Tyrosine Phosphatase, Non-Receptor Type 11 Protein Tyrosine Phosphatases / genetics |
| Chemical | |
Reg. No./Substance:
|
0/Intracellular Signaling Peptides and Proteins; EC 3.1.3.48/PTPN11 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 11; EC 3.1.3.48/Protein Tyrosine Phosphatases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A giant thrombus in the right ventricle of a newborn with Down syndrome: successful treatment with r...
Next Document: Feasibility and safety of a pilot randomized trial of infection rate: neutropenic diet versus standa...