Skip Navigation LinksHome > October 2012 - Volume 34 - Issue 7 > Juvenile Myelomonocytic Leukemia in a 16-Year-Old With Noona...
Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0b013e31824e192a
Clinical and Laboratory Observations

Juvenile Myelomonocytic Leukemia in a 16-Year-Old With Noonan Syndrome: Case Report

Ortiz, Michael Vincent MD*; Skoda-Smith, Suzanne MD; Rauen, Katherine A. MD, PhD; Allan, Robert W. MD§; Slayton, William Birdsall MD§

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Abstract

A 16-year-old man with splenomegaly presented with ascites and bilateral leg eschars. Although he had intermittently elevated absolute monocyte counts, a diagnosis of juvenile myelomonocytic leukemia (JMML) was discounted because of his age and lack of persistent leukocytosis. Detailed examination demonstrated features consistent with Noonan syndrome (NS), including typical facies, growth retardation, a cardiac defect, and a history of a coagulopathy. He underwent a splenectomy where the surgeons encountered a rind of tissue composed of monocytes encasing the abdominal organs. After splenectomy, his leukocytes rose to over 100×109/L with a monocytosis, suggesting JMML. On the basis of the clinical suspicion of NS, mutation analysis revealed a KRAS mutation, which is known to be common to both NS and JMML. Clinicians should have high index of suspicion for JMML in patients with Noonan features, regardless of a patient’s age.

© 2012 Lippincott Williams & Wilkins, Inc.

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