A novel mutation of <i>LYST</i> and haemophagocytic lymphohistiocytosis as the first symptom in children with ph+ALL: A case report and literature review.

ABSTRACT: Haemophagocytic lymphohistiocytosis (HLH) is a rare disorder. This study sheds light on a rare and intriguing case of HLH as the initial symptom in a child with Philadelphia chromosome-positive acute lymphoblastic leukaemia (ph+ALL). This case report, accompanied by a comprehensive literature review, highlights the diagnostic challenges and treatment complexities encountered in the management of such rare manifestations. Moreover, the identification of a novel mutation in the LYST gene adds a unique genetic perspective to the understanding of HLH pathogenesis, potentially opening avenues for further research in this area.

SUBMITTER: Wang T 

PROVIDER: S-EPMC11474221 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature