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

Leila Cardoso; Víctor Galán-Gómez; María Dolores Corral-Sánchez; Antonio Pérez-Martínez; Susana Riesco; María Isidoro-García; Adela Escudero

doi:10.1002/ccr3.4260

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

Clin Case Rep. 2021 May 15;9(5):e04260. doi: 10.1002/ccr3.4260. eCollection 2021 May.

Authors

Leila Cardoso¹, Víctor Galán-Gómez², María Dolores Corral-Sánchez², Antonio Pérez-Martínez^{1

2}, Susana Riesco³, María Isidoro-García⁴, Adela Escudero^{1

5}

Affiliations

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.

Abstract

The clinical and laboratory criteria for hemophagocytic lymphohistiocytosis should be taken into account during the juvenile myelomonocytic leukemia diagnosis, specifically in CBL syndrome, to reveal the presence of primary rather than secondary associated hemophagocytosis.

Keywords: CBL syndrome; hemophagocytic lymphohistiocytosis; juvenile myelomonocytic leukemia; splicing mutations.

Publication types

Case Reports