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

Abstract

Abstract 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.

Keywords

• cancer genetics
• chromosome 11q
• infant leukemia
• molecular pathogenesis
• myeloproliferative disorder