Clin Oncol | Volume 7, Issue 1 | Case Report | Open Access

Familial Hemophagocytic Lymphohistiocytosis Type-2 Prior to Onset of Childhood Acute Lymphoblastic Leukemia in a Chinese Child with a Novel Compound Heterozygous Mutation in PRF1

Hua Pan, Yong-an Ni, Ke-Lei, Gaoyan-Wang, Enben-Guan, Yi Zhi, Huijuan-Xu and Aiqin-Song*

Department of Pediatric Therapy Center, Affiliated Hospital of Qingdao University, China

*Correspondance to: Aiqin-Song 

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Abstract

Mutations of the PRF1 gene have been identified in Familial Hemophagocytic Lymphohistiocytosis type-2 (FHL-2), and may play a role in susceptibility to Acute Lymphoblastic Leukemia (ALL). Here, we present the case of a 9-year-old Chinese female with FHL-2 who developed ALL. The patient was compound heterozygous in PRF1 gene: c.394G>A (p.G132R) and c.1349C>T (p.T450M). This mutation resulted in deletion of almost the entire C2 domain and carboxyl terminal of perforin, which seriously affected protein function. Our findings should raise awareness among physicians that patients with FHL who present with abnormalities in natural killer cell function may be predisposed to malignancies.

Keywords:

Familial hemophagocytic lymphohistiocytosis type-2; Childhood acute lymphoblastic leukemia; PRF1

Citation:

Pan H, Ni Y-A, Ke-Lei, Gaoyan-Wang, Enben-Guan, Zhi Y, et al. Familial Hemophagocytic Lymphohistiocytosis Type-2 Prior to Onset of Childhood Acute Lymphoblastic Leukemia in a Chinese Child with a Novel Compound Heterozygous Mutation in PRF1. Clin Oncol. 2022;7:1948..

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