Juvenile myelomonocytic leukemia in a 16-year-old with noonan syndrome: Case report

Michael Vincent Ortiz, Suzanne Skoda-Smith, Katherine A Rauen, Robert W. Allan, William Birdsall Slayton

Research output: Contribution to journalArticle

1 Scopus citations

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 100×10/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.

Original languageEnglish (US)
Pages (from-to)569-572
Number of pages4
JournalJournal of Pediatric Hematology/Oncology
Volume34
Issue number7
DOIs
StatePublished - Oct 2012
Externally publishedYes

Keywords

  • juvenile myelomonocytic leukemia
  • KRAS
  • Noonan syndrome
  • RASopathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology

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