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

Abstract

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