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Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients
Author(s) -
Lavin Viviana A.,
Hamid Rizwan,
Patterson Johnequia,
Alford Catherine,
Ho Richard,
Yang Elizabeth
Publication year - 2008
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.21591
Subject(s) - medicine , juvenile myelomonocytic leukemia , ptpn11 , monocytosis , noonan syndrome , cancer research , population , oncology , leukemia , bone marrow , immunophenotyping , immunology , cancer , kras , colorectal cancer , biology , genetics , haematopoiesis , stem cell , flow cytometry , environmental health
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. Pediatr Blood Cancer 2008;51:298–302. © 2008 Wiley‐Liss, Inc.