Rizwan Hamid
Faculty Member
Last active: 5/30/2014

Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients.

Lavin VA, Hamid R, Patterson J, Alford C, Ho R, Yang E
Pediatr Blood Cancer. 2008 51 (2): 298-302

PMID: 18454468 · DOI:10.1002/pbc.21591

Noonan syndrome (NS) patients are at increased risk for developing juvenile myelomonocytic leukemia (JMML), an aggressive clonal disorder of aberrant cell proliferation. Many NS patients exhibit spontaneously remitting monocytosis and transient myeloproliferation. The distinction between bone marrow hyperproliferation due to germline mutation and leukemia resulting from clonal transformation can be difficult in NS patients. The GM-CSF hypersensitivity assay, diagnostic of sporadic JMML, can be positive in NS patients at baseline. In this report, we demonstrate the utility of determining the clonal status of the monocyte population by the HUMARA assay in distinguishing JMML and benign myeloproliferation in female NS patients.

MeSH Terms (9)

Female Granulocyte-Macrophage Colony-Stimulating Factor Humans Infant Leukemia, Myelomonocytic, Juvenile Mutation Noonan Syndrome Protein Tyrosine Phosphatase, Non-Receptor Type 11 Receptors, Androgen

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