Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice‐site mutations: Two case reports and a literature review-Reference-Cited by-同舟云学术

Juvenile myelomonocytic leukemia in CBL syndrome associated with germline splice‐site mutations: Two case reports and a literature review

Published:2021-05 Issue:5 Volume:9 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Cardoso Leila¹^ORCID,Galán‐Gómez Víctor²,Corral‐Sánchez María Dolores²,Pérez‐Martínez Antonio¹²^ORCID,Riesco Susana³,Isidoro‐García María⁴^ORCID,Escudero Adela¹⁵^ORCID

Affiliation:

1. Translational Research in Pediatric Oncology, Hematopoietic Transplantation & Cell Therapy Hospital La Paz Institute for Health Research (INGEMM‐IdiPAZ) Madrid Spain

2. Paediatric Haematology and Oncology Service La Paz University Hospital Madrid Spain

3. Department of Paediatric Oncohaematology University Hospital of Salamanca Salamanca Spain

4. Clinical Biochemistry Department University Hospital of Salamanca Salamanca Spain

5. Institute of Medical and Molecular Genetics (INGEMM) La Paz University Hospital Madrid Spain

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.4260

Reference26 articles.

1. Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia

2. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia

3. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia

4. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia

5. Juvenile Myelomonocytic Leukemia: Molecular Pathogenesis Informs Current Approaches to Therapy and Hematopoietic Cell Transplantation

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1. Chronic myeloproliferative neoplasm in adulthood in CBL syndrome harboring a splice‐site CBL variant alongside a novel constitutional CSF3R variant;eJHaem;2024-02-18

2. Cutaneous Vasculitis as the Initial Presentation of Juvenile Myelomonocytic Leukemia;Clinical Pediatrics;2023-09-30

3. Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome;Frontiers in Pediatrics;2022-07-28

4. Genetic Disorders with Predisposition to Paediatric Haematopoietic Malignancies—A Review;Cancers;2022-07-22

5. EAHP 2020 workshop proceedings, pediatric myeloid neoplasms;Virchows Archiv;2022-07-11