{"title":"PML 基因突变与家族性小儿急性淋巴细胞白血病：病例报告。","authors":"JinFang Zhang, MingYan Zhong","doi":"10.1177/2050313X241272534","DOIUrl":null,"url":null,"abstract":"<p><p>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 <i>PML</i> gene (<i>PML</i>, NM_033250, exon7, c.2170A<b>></b>G, p.S724G; <i>PML</i>, NM_033250, exon7, c.2195G<b>></b>T, p.G732V), and their parents had heterozygous mutations in one mutation site of <i>PML</i> gene, respectively, suggesting that the diheterozygous mutations of <i>PML</i> gene might be causal genetic genes for the occurrence of acute lymphoblastic leukemia.</p>","PeriodicalId":21418,"journal":{"name":"SAGE Open Medical Case Reports","volume":"12 ","pages":"2050313X241272534"},"PeriodicalIF":0.6000,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418311/pdf/","citationCount":"0","resultStr":"{\"title\":\"<i>PML</i> mutation and familial pediatric acute lymphoblastic leukemia: A case report.\",\"authors\":\"JinFang Zhang, MingYan Zhong\",\"doi\":\"10.1177/2050313X241272534\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>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 <i>PML</i> gene (<i>PML</i>, NM_033250, exon7, c.2170A<b>></b>G, p.S724G; <i>PML</i>, NM_033250, exon7, c.2195G<b>></b>T, p.G732V), and their parents had heterozygous mutations in one mutation site of <i>PML</i> gene, respectively, suggesting that the diheterozygous mutations of <i>PML</i> gene might be causal genetic genes for the occurrence of acute lymphoblastic leukemia.</p>\",\"PeriodicalId\":21418,\"journal\":{\"name\":\"SAGE Open Medical Case Reports\",\"volume\":\"12 \",\"pages\":\"2050313X241272534\"},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-09-19\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11418311/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"SAGE Open Medical Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/2050313X241272534\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"SAGE Open Medical Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/2050313X241272534","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
PML mutation and familial pediatric acute lymphoblastic leukemia: A case report.
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.
期刊介绍：
SAGE Open Medical Case Reports (indexed in PubMed Central) is a peer reviewed, open access journal. It aims to provide a publication home for short case reports and case series, which often do not find a place in traditional primary research journals, but provide key insights into real medical cases that are essential for physicians, and may ultimately help to improve patient outcomes. SAGE Open Medical Case Reports does not limit content due to page budgets or thematic significance. Papers are subject to rigorous peer review and are selected on the basis of whether the research is sound and deserves publication. By virtue of not restricting papers to a narrow discipline, SAGE Open Medical Case Reports facilitates the discovery of the connections between papers, whether within or between disciplines. Case reports can span the full spectrum of medicine across the health sciences in the broadest sense, including: Allergy/Immunology Anaesthesia/Pain Cardiovascular Critical Care/ Emergency Medicine Dentistry Dermatology Diabetes/Endocrinology Epidemiology/Public Health Gastroenterology/Hepatology Geriatrics/Gerontology Haematology Infectious Diseases Mental Health/Psychiatry Nephrology Neurology Nursing Obstetrics/Gynaecology Oncology Ophthalmology Orthopaedics/Rehabilitation/Occupational Therapy Otolaryngology Palliative Medicine Pathology Pharmacoeconomics/health economics Pharmacoepidemiology/Drug safety Psychopharmacology Radiology Respiratory Medicine Rheumatology/ Clinical Immunology Sports Medicine Surgery Toxicology Urology Women''s Health.
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