Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis.

Autor:	Ahmari AA; Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Saudi Arabia.; College of Medicine, AlFaisal University, Riyadh, Saudi Arabia., Alsmadi O; Section of Immunogenetics, Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Saudi Arabia.; Cell Therapy, Applied Genomics, King Hussein Cancer Center, Amman, Jordan., Sheereen A; Section of Immunogenetics, Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Saudi Arabia., Elamin T; Section of Immunogenetics, Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Saudi Arabia., Jabr A; Section of Immunogenetics, Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Saudi Arabia., El-Baik L; Section of Immunogenetics, Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Saudi Arabia., Alhissi S; Section of Immunogenetics, Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Saudi Arabia., Saud BA; Department of Pediatric Allergy/Immunology, King Faisal Specialist Hospital and Research Center, Saudi Arabia., Al-Awwami M; Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Saudi Arabia., Fawaz IA; Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Saudi Arabia.; College of Medicine, AlFaisal University, Riyadh, Saudi Arabia., Ayas M; Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Saudi Arabia.; College of Medicine, AlFaisal University, Riyadh, Saudi Arabia., Siddiqui K; Department of Pediatric Hematology/Oncology, King Faisal Specialist Hospital and Research Center, Saudi Arabia., Hawwari A; Section of Immunogenetics, Department of Genetics, Research Center, King Faisal Specialist Hospital and Research Center, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City Hospital, Al-Ahsa, Saudi Arabia.
Jazyk:	angličtina
Zdroj:	Blood research [Blood Res] 2021 Jun 30; Vol. 56 (2), pp. 86-101.
DOI:	10.5045/br.2021.2020308
Abstrakt:	Background: Our study was designed to investigate the frequencies and distributions of familial hemophagocytic lymphohistiocytosis (FHL) associated genes in Saudi patients. Methods: FHL associated gene screening was performed on 87 Saudi patients who were diagnosed with hemophagocytic lymphohistiocytosis (HLH) between 1995 and 2014. The clinical and biochemical profiles were also retrospectively captured and analyzed. Results: Homozygous mutations and mono-allelic variants were identified in 66 (75.9%) and 3 (3.5%) of the study participants, respectively. STXBP2 was the most frequently mutated gene (36% of patients) and mutations in STXBP2 and STX11 accounted for 58% of all FHL cases and demonstrated a specific geographical pattern. Patients in the FHL group presented at a significantly younger age than those belonging to the unknown-genetics group (median, 3.9 vs. 9.4 mo; P =0.005). The presenting clinical features were similar among the various genetic groups and the 5-year overall survival (OS) was 55.4% with a 5.6 year median follow-up. Patients with PRF1 mutations had a significantly poorer 5-year OS (21.4%, P =0.008) and patients undergoing hematopoietic stem cell transplant (72.4%) had a significantly better 5-year OS (66.5% vs. 0%, P =0.001). Conclusion: Our study revealed the predominance of the STXBP2 mutations in Saudi patients with FHL. A genetic diagnosis was possible in 80% of the cohort and our data showed improved survival in FHL patients who underwent hematopoietic stem cell transplant.
Databáze:	MEDLINE
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