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Chronic myeloproliferative neoplasm in adulthood in CBL syndrome harboring a splice-site CBL variant alongside a novel constitutional CSF3R variant.

George MasonRhian AghajaniBrieanna DanceJad OthmanLinda GoodwinWilliam StevensonNaomi Mackinlay
Published in: EJHaem (2024)
Casitas B-cell lineage (CBL) syndrome is a rare RASopathy known to predispose to CBL-mutated juvenile myelomonocytic leukemia (JMML) in childhood. Adulthood acute myeloid leukemia arising out of a genetic aberrancies consistent with prior CBL-mutated JMML has been twice previously described, but chronic myeloproliferative neoplasia has not. We present a case of progressive myeloproliferative neoplasm in adulthood in the context of CBL syndrome alongside a novel CSF3R variant. We also review pathogenic splice-site mutations in CBL-mutated JMML.
Keyphrases
  • acute myeloid leukemia
  • depressive symptoms
  • early life
  • case report
  • multiple sclerosis
  • low grade
  • bone marrow
  • high grade
  • dna methylation
  • acute lymphoblastic leukemia
  • young adults