Egzona Qipa, Muradiye Acar, Sureyya Bozkurt, Murat Buyukdogan, Hazal B Sonmez, Muge Sayitoglu, Yucel Erbilgin, Zeynep Karakaş, Veysel S Hançer
{"title":"b细胞急性淋巴母细胞白血病中新的RUNX1变异。","authors":"Egzona Qipa, Muradiye Acar, Sureyya Bozkurt, Murat Buyukdogan, Hazal B Sonmez, Muge Sayitoglu, Yucel Erbilgin, Zeynep Karakaş, Veysel S Hançer","doi":"10.4084/MJHID.2023.036","DOIUrl":null,"url":null,"abstract":"<p><p>Acute lymphoblastic leukemia (ALL) is a malignant disease of hematopoietic stem cells. B cell ALL (B-ALL) is characterized by highly proliferative and poorly differentiated progenitor B cells in the bone marrow. Chromosomal rearrangements, aberrant cell signaling, and mutations lead to dysregulated cell cycle and clonal proliferation of abnormal B cell progenitors. In this study, we aimed to examine hot spot genetic variations in the <i>RUNX1</i>, <i>IDH2</i>, and <i>IL2RA</i> genes in a group of (n=52) pediatric B-ALL. Sanger sequencing results revealed a rare <i>RUNX1</i> variant p.Leu148Gln in one B-ALL patient with disease recurrence. Additionally, common intronic variations rs12358961 and rs11256369 of IL2RA were determined in two patients. None of the patients had the IDH2 variant. <i>RUNX1, IDH2</i>, and <i>IL2RA</i> variations were rare events in ALL. This study detected a novel pathogenic RUNX1 variation in a patient with a poor prognosis. Examining prognostically important genetic anomalies of childhood lymphoblastic leukemia patients and the signaling pathway components will pilot more accurate prognosis estimations.</p>","PeriodicalId":18498,"journal":{"name":"Mediterranean Journal of Hematology and Infectious Diseases","volume":"15 1","pages":"e2023036"},"PeriodicalIF":2.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/06/9f/mjhid-15-1-e2023036.PMC10332349.pdf","citationCount":"0","resultStr":"{\"title\":\"Novel <i>RUNX1</i> Variation in B-cell Acute Lymphoblastic Leukemia.\",\"authors\":\"Egzona Qipa, Muradiye Acar, Sureyya Bozkurt, Murat Buyukdogan, Hazal B Sonmez, Muge Sayitoglu, Yucel Erbilgin, Zeynep Karakaş, Veysel S Hançer\",\"doi\":\"10.4084/MJHID.2023.036\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Acute lymphoblastic leukemia (ALL) is a malignant disease of hematopoietic stem cells. B cell ALL (B-ALL) is characterized by highly proliferative and poorly differentiated progenitor B cells in the bone marrow. Chromosomal rearrangements, aberrant cell signaling, and mutations lead to dysregulated cell cycle and clonal proliferation of abnormal B cell progenitors. In this study, we aimed to examine hot spot genetic variations in the <i>RUNX1</i>, <i>IDH2</i>, and <i>IL2RA</i> genes in a group of (n=52) pediatric B-ALL. Sanger sequencing results revealed a rare <i>RUNX1</i> variant p.Leu148Gln in one B-ALL patient with disease recurrence. Additionally, common intronic variations rs12358961 and rs11256369 of IL2RA were determined in two patients. None of the patients had the IDH2 variant. <i>RUNX1, IDH2</i>, and <i>IL2RA</i> variations were rare events in ALL. This study detected a novel pathogenic RUNX1 variation in a patient with a poor prognosis. Examining prognostically important genetic anomalies of childhood lymphoblastic leukemia patients and the signaling pathway components will pilot more accurate prognosis estimations.</p>\",\"PeriodicalId\":18498,\"journal\":{\"name\":\"Mediterranean Journal of Hematology and Infectious Diseases\",\"volume\":\"15 1\",\"pages\":\"e2023036\"},\"PeriodicalIF\":2.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/06/9f/mjhid-15-1-e2023036.PMC10332349.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Mediterranean Journal of Hematology and Infectious Diseases\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4084/MJHID.2023.036\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Mediterranean Journal of Hematology and Infectious Diseases","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4084/MJHID.2023.036","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Novel RUNX1 Variation in B-cell Acute Lymphoblastic Leukemia.
Acute lymphoblastic leukemia (ALL) is a malignant disease of hematopoietic stem cells. B cell ALL (B-ALL) is characterized by highly proliferative and poorly differentiated progenitor B cells in the bone marrow. Chromosomal rearrangements, aberrant cell signaling, and mutations lead to dysregulated cell cycle and clonal proliferation of abnormal B cell progenitors. In this study, we aimed to examine hot spot genetic variations in the RUNX1, IDH2, and IL2RA genes in a group of (n=52) pediatric B-ALL. Sanger sequencing results revealed a rare RUNX1 variant p.Leu148Gln in one B-ALL patient with disease recurrence. Additionally, common intronic variations rs12358961 and rs11256369 of IL2RA were determined in two patients. None of the patients had the IDH2 variant. RUNX1, IDH2, and IL2RA variations were rare events in ALL. This study detected a novel pathogenic RUNX1 variation in a patient with a poor prognosis. Examining prognostically important genetic anomalies of childhood lymphoblastic leukemia patients and the signaling pathway components will pilot more accurate prognosis estimations.
期刊介绍：
Reciprocal interdependence between infectious and hematologic diseases (malignant and non-malignant) is well known. This relationship is particularly evident in Mediterranean countries. Parasitosis as Malaria, Leishmaniosis, B Hookworms, Teniasis, very common in the southeast Mediterranean area, infect about a billion people and manifest prevalently with anemia so that they are usually diagnosed mostly by experienced hematologist on blood or bone marrow smear. On the other hand, infections are also a significant problem in patients affected by hematological malignancies. The blood is the primary vector of HIV infection, which otherwise manifest with symptoms related to a reduction in T lymphocytes. In turn, infections can favor the insurgency of hematological malignancies. The causative relationship between Epstein-Barr virus infection, Helicobacter pylori, hepatitis C virus, HIV and lymphoproliferative diseases is well known.
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