Julie Messiaen, Anne Uyttebroeck, Lucienne Michaux, Peter Vandenberghe, Nancy Boeckx, Sandra A Jacobs
{"title":"t(1;7;22)(p13;q21;q13)是t(1;22)(p13;q13)新生儿急性巨核细胞白血病的一种新的3向变异。","authors":"Julie Messiaen, Anne Uyttebroeck, Lucienne Michaux, Peter Vandenberghe, Nancy Boeckx, Sandra A Jacobs","doi":"10.3892/mco.2023.2614","DOIUrl":null,"url":null,"abstract":"<p><p>Acute megakaryoblastic leukemia (AMKL) is a rare disease, occurring mostly in infants and young children. The chromosomal translocation t(1;22)(p13;q13), resulting in the RBM15-MKL1 fusion gene, is a recurrent and diagnostic translocation in infants with AMKL. The present case report describes a case of a newborn girl, without Down's syndrome, with congenital AMKL. At birth, the infant had hepatosplenomegaly and the peripheral blood count revealed anemia, thrombopenia and leukocytosis, with 28% blasts. Immunophenotyping demonstrated blasts positive for CD34, CD61 and CD42b. Karyotyping of these blasts (R-banding) showed a hitherto unreported chromosomal translocation, t(1;7;22)(p13;q21;q13), a 3-way variant of the t(1;22)(p13;q13) variant. Fluorescent <i>in situ</i> hybridization analysis confirmed the presence of the RBM15-MKL1 fusion gene.</p>","PeriodicalId":18737,"journal":{"name":"Molecular and clinical oncology","volume":"18 3","pages":"18"},"PeriodicalIF":1.4000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b2/fe/mco-18-03-02614.PMC9926329.pdf","citationCount":"0","resultStr":"{\"title\":\"t(1;7;22)(p13;q21;q13) is a novel 3-way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report.\",\"authors\":\"Julie Messiaen, Anne Uyttebroeck, Lucienne Michaux, Peter Vandenberghe, Nancy Boeckx, Sandra A Jacobs\",\"doi\":\"10.3892/mco.2023.2614\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Acute megakaryoblastic leukemia (AMKL) is a rare disease, occurring mostly in infants and young children. The chromosomal translocation t(1;22)(p13;q13), resulting in the RBM15-MKL1 fusion gene, is a recurrent and diagnostic translocation in infants with AMKL. The present case report describes a case of a newborn girl, without Down's syndrome, with congenital AMKL. At birth, the infant had hepatosplenomegaly and the peripheral blood count revealed anemia, thrombopenia and leukocytosis, with 28% blasts. Immunophenotyping demonstrated blasts positive for CD34, CD61 and CD42b. Karyotyping of these blasts (R-banding) showed a hitherto unreported chromosomal translocation, t(1;7;22)(p13;q21;q13), a 3-way variant of the t(1;22)(p13;q13) variant. Fluorescent <i>in situ</i> hybridization analysis confirmed the presence of the RBM15-MKL1 fusion gene.</p>\",\"PeriodicalId\":18737,\"journal\":{\"name\":\"Molecular and clinical oncology\",\"volume\":\"18 3\",\"pages\":\"18\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2023-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b2/fe/mco-18-03-02614.PMC9926329.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Molecular and clinical oncology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3892/mco.2023.2614\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular and clinical oncology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3892/mco.2023.2614","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ONCOLOGY","Score":null,"Total":0}
t(1;7;22)(p13;q21;q13) is a novel 3-way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report.
Acute megakaryoblastic leukemia (AMKL) is a rare disease, occurring mostly in infants and young children. The chromosomal translocation t(1;22)(p13;q13), resulting in the RBM15-MKL1 fusion gene, is a recurrent and diagnostic translocation in infants with AMKL. The present case report describes a case of a newborn girl, without Down's syndrome, with congenital AMKL. At birth, the infant had hepatosplenomegaly and the peripheral blood count revealed anemia, thrombopenia and leukocytosis, with 28% blasts. Immunophenotyping demonstrated blasts positive for CD34, CD61 and CD42b. Karyotyping of these blasts (R-banding) showed a hitherto unreported chromosomal translocation, t(1;7;22)(p13;q21;q13), a 3-way variant of the t(1;22)(p13;q13) variant. Fluorescent in situ hybridization analysis confirmed the presence of the RBM15-MKL1 fusion gene.
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