{"title":"病例报告:以 5 三体综合征为唯一细胞遗传学异常的小儿急性淋巴细胞白血病","authors":"Nidhi R, Vinod G, Shrivalli Bs, Vishal Ashok","doi":"10.18231/j.jdpo.2023.055","DOIUrl":null,"url":null,"abstract":"Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood and represents about 75 -80% of ALL in pediatric age group. ALL is characterised by uncontrolled proliferation of abnormal, immature lymphocytes and their progenitors and replacing the bone marrow elements and other lymphoid organs by leukemic cells (ALL blasts). The 5 year survival rate for childhood ALL is about 90% overall, children in lower risk groups have a better prognosis than those in higher risk group. Risk assessment is mainly based on cytogenetic and molecular factors in addition, clinical symptoms and signs, White blood cell count at diagnosis are all recognized for stratification. In present case the cytogenetic analysis showed the presence of trisomy 5 as a sole numerical abnormality. Trisomy 5 accounts for aneuploidy change in the cytogenetic analysis. The gain or loss of whole chromosome, ie aneuploidy is a major genomic insult in human cancers. Aneuploidy is observed in ~90% of solid tumors and~60% of hematological maignancies. The increased gene expression in trisomy 5 causes chromosomal instability (CIN), microsatellite instability (MIN) and genomic instabilty which inturn causes the cancer genome to undergo evolution, adaptation and favors tumor progression in patients with B cell acute lymphoblastic leukemia.","PeriodicalId":364340,"journal":{"name":"IP Journal of Diagnostic Pathology and Oncology","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Case report: Pediatric acute lymphoblastic leukemia with trisomy 5 as sole cytogenetic abnormality\",\"authors\":\"Nidhi R, Vinod G, Shrivalli Bs, Vishal Ashok\",\"doi\":\"10.18231/j.jdpo.2023.055\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood and represents about 75 -80% of ALL in pediatric age group. ALL is characterised by uncontrolled proliferation of abnormal, immature lymphocytes and their progenitors and replacing the bone marrow elements and other lymphoid organs by leukemic cells (ALL blasts). The 5 year survival rate for childhood ALL is about 90% overall, children in lower risk groups have a better prognosis than those in higher risk group. Risk assessment is mainly based on cytogenetic and molecular factors in addition, clinical symptoms and signs, White blood cell count at diagnosis are all recognized for stratification. In present case the cytogenetic analysis showed the presence of trisomy 5 as a sole numerical abnormality. Trisomy 5 accounts for aneuploidy change in the cytogenetic analysis. The gain or loss of whole chromosome, ie aneuploidy is a major genomic insult in human cancers. Aneuploidy is observed in ~90% of solid tumors and~60% of hematological maignancies. The increased gene expression in trisomy 5 causes chromosomal instability (CIN), microsatellite instability (MIN) and genomic instabilty which inturn causes the cancer genome to undergo evolution, adaptation and favors tumor progression in patients with B cell acute lymphoblastic leukemia.\",\"PeriodicalId\":364340,\"journal\":{\"name\":\"IP Journal of Diagnostic Pathology and Oncology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-12-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"IP Journal of Diagnostic Pathology and Oncology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.18231/j.jdpo.2023.055\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"IP Journal of Diagnostic Pathology and Oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.18231/j.jdpo.2023.055","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
急性淋巴细胞白血病(ALL)是儿童期最常见的恶性肿瘤,约占儿童期ALL的75-80%。急性淋巴细胞白血病的特点是不正常、不成熟的淋巴细胞及其祖细胞不受控制地增殖,白血病细胞(ALL blasts)取代骨髓细胞和其他淋巴器官。儿童 ALL 的 5 年存活率约为 90%,风险较低的儿童比风险较高的儿童预后更好。风险评估主要基于细胞遗传学和分子因素,此外,临床症状和体征、确诊时的白细胞计数也是公认的分层依据。本病例的细胞遗传学分析显示,5 三体综合征是唯一的数字异常。在细胞遗传学分析中,5 三体综合征属于非整倍体变化。整条染色体的增益或缺失,即非整倍体,是人类癌症的主要基因组损伤。在约 90% 的实体瘤和约 60% 的血液肿瘤中可观察到非整倍体。在 B 细胞急性淋巴细胞白血病患者中,5 三体综合征基因表达的增加会导致染色体不稳定(CIN)、微卫星不稳定(MIN)和基因组不稳定,进而导致癌症基因组的进化、适应和肿瘤进展。
Case report: Pediatric acute lymphoblastic leukemia with trisomy 5 as sole cytogenetic abnormality
Acute lymphoblastic leukemia (ALL) is the most common malignancy in childhood and represents about 75 -80% of ALL in pediatric age group. ALL is characterised by uncontrolled proliferation of abnormal, immature lymphocytes and their progenitors and replacing the bone marrow elements and other lymphoid organs by leukemic cells (ALL blasts). The 5 year survival rate for childhood ALL is about 90% overall, children in lower risk groups have a better prognosis than those in higher risk group. Risk assessment is mainly based on cytogenetic and molecular factors in addition, clinical symptoms and signs, White blood cell count at diagnosis are all recognized for stratification. In present case the cytogenetic analysis showed the presence of trisomy 5 as a sole numerical abnormality. Trisomy 5 accounts for aneuploidy change in the cytogenetic analysis. The gain or loss of whole chromosome, ie aneuploidy is a major genomic insult in human cancers. Aneuploidy is observed in ~90% of solid tumors and~60% of hematological maignancies. The increased gene expression in trisomy 5 causes chromosomal instability (CIN), microsatellite instability (MIN) and genomic instabilty which inturn causes the cancer genome to undergo evolution, adaptation and favors tumor progression in patients with B cell acute lymphoblastic leukemia.