Send to

Choose Destination
Pediatr Blood Cancer. 2008 Aug;51(2):298-302. doi: 10.1002/pbc.21591.

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

Author information

Department of Pediatrics, Divisions of Hematology-Oncology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.


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.

[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center