Work

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

Year: 2024

Type: article

Abstract: • HLH is the initial symptom in a child with Philadelphia chromosome-positive acute lymphoblastic leukaemia (ph+ALL). • The patient had LYST gene mutation, and ph+ gene was the trigger gene. • The mutated gene has not been identified in the literature, and whether it will lead to hemophagocytic syndrome is unknown. • HLH treatment alone cannot solve this fundamental problem. • In clinical practice, establishing the correct diagnosis is the most effective treatment in such patient. 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.

Source: Leukemia Research Reports

DOI: 10.1016/j.lrr.2024.100481

Authors: Tiantian Wang, Xuhui liu, Li Lin, Renzhi Pei, Ying Lu

Institution: Ningbo University

Language: English

Topic: Autoimmune and Inflammatory Disorders Research

Subfield: Hematology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,110