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

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

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...

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Bibliographic Details
Main Authors: George Mason, Rhian Aghajani, Brieanna Dance, Jad Othman, Linda Goodwin, William Stevenson, Naomi Mackinlay
Format: Article
Language:English
Published: Wiley 2024-04-01
Series:eJHaem
Subjects:
cancer genetics
chromosome 11q
infant leukemia
molecular pathogenesis
myeloproliferative disorder
Online Access:https://doi.org/10.1002/jha2.864
Description
Summary: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.
ISSN:2688-6146

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