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- Lymphoma
- Sarcomas
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- Ovarian Cancer
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Abstract
Citation: Clin Oncol. 2022;7(1):1948.DOI: 10.25107/2474-1663.1948
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
PDF Full Text Case Report | Open Access
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
Cite the Article:
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..