title: Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients.
abstract: 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.
authors.affiliation: Department of Pediatrics, Divisions of Hematology-Oncology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.
authors.forename: Viviana A
authors.initials: VA
authors.lastname: Lavin
authors.forename: Rizwan
authors.initials: R
authors.lastname: Hamid
authors.forename: Johnequia
authors.initials: J
authors.lastname: Patterson
authors.forename: Catherine
authors.initials: C
authors.lastname: Alford
authors.forename: Richard
authors.initials: R
authors.lastname: Ho
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Yang
mesh_terms: D005260:Female; D016178:Granulocyte-Macrophage Colony-Stimulating Factor / Q000494:pharmacology; D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000175:diagnosis*; D009154:Mutation; D009634:Noonan Syndrome / Q000150:complications*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D011944:Receptors, Androgen / Q000235:genetics*
chemical_list: C410798:AR protein, human; D011944:Receptors, Androgen; D016178:Granulocyte-Macrophage Colony-Stimulating Factor; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11