Chronic myeloproliferative neoplasm in adulthood in CBL syndrome harboring a splice‐site <i>CBL</i> variant alongside a novel constitutional <i>CSF3R</i> variant-Reference-Cited by-同舟云学术

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

Published:2024-02-18 Issue:2 Volume:5 Page:397-402
ISSN:2688-6146
Container-title:eJHaem
language:en
Short-container-title:eJHaem

Author:

Mason George¹²^ORCID,Aghajani Rhian¹²,Dance Brieanna³,Othman Jad¹²^ORCID,Goodwin Linda⁴,Stevenson William¹²,Mackinlay Naomi¹

Affiliation:

1. Department of Transfusion and Haematology Royal North Shore Hospital Sydney New South Wales Australia

2. Northern Clinical School Faculty of Medicine and Health The University of Sydney Sydney New South Wales Australia

3. Department of Clinical Genetics Children's Hospital at Westmead Sydney New South Wales Australia

4. Department of Clinical Genetics Royal North Shore Hospital Sydney New South Wales Australia

Abstract

AbstractCasitas 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.

Funder

Faculty of Medicine and Health, University of Sydney

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jha2.864

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