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Published on: August 23, 2024
PML mutation and familial pediatric acute lymphoblastic leukemia: A case report
JinFang Zhang1, MingYan Zhong1
1Department of Paediatric Hematology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Southern Medical University, Guangzhou City, Guangdong Province, China.
Insights
Genetic mutations in the PML gene are linked to hereditary acute lymphoblastic leukemia in siblings. This study identified specific diheterozygous mutations in the PML gene, suggesting a potential cause for the disease in this family.
Area of Science:
- Genetics
- Pediatric Oncology
- Molecular Biology
Background:
- Hereditary factors play a role in pediatric leukemia pathogenesis.
- Limited research exists on gene mutation pathways in hereditary leukemia.
Abstract:
Hereditary factors contribute to the pathogenesis of pediatric leukemia. However, few studies have reported gene mutation pathopoeias. This paper reports genetic mutations associated with hereditary acute lymphoblastic leukemia. We reported a case of siblings diagnosed with acute lymphoblastic leukemia when aged 3 and 7 years, both siblings are alive after chemotherapy, and whole exome sequencing analysis was performed on the siblings and their parents. It was observed that both siblings had diheterozygous mutations in PML gene (PML, NM_033250, exon7, c.2170A>G, p.S724G; PML, NM_033250, exon7, c.2195G>T, p.G732V), and their parents had heterozygous mutations in one mutation site of PML gene, respectively, suggesting that the diheterozygous mutations of PML gene might be causal genetic genes for the occurrence of acute lymphoblastic leukemia.
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