Ambreen Aman, Kavitha B Lingappa, Deepika G Sujatha, Subhan Ali Rajasab, Siddapa Shantala
{"title":"急性髓系白血病并发16型反转和9型三体1例报告。","authors":"Ambreen Aman, Kavitha B Lingappa, Deepika G Sujatha, Subhan Ali Rajasab, Siddapa Shantala","doi":"10.1055/s-0042-1750070","DOIUrl":null,"url":null,"abstract":"Abstract Acute myeloid leukemia (AML) are a diverse group of hematological malignancies, each with a distinct clinical, morphological, immunophenotypic, and molecular profile. The World Health Organization (WHO) classifies AML into various subtypes based on recurrent genetic abnormalities, each of which has clinico-pathological and prognostic significance. Inversion(16)(p13q22) or t(16;16)(p13q22) is a balanced structural chromosomal abnormality associated with complete remission and a favorable response to treatment. Trisomy 9 is a numerical chromosomal abnormality with an intermediate risk and is often seen in association with other cytogenetic abnormalities. We describe a case of a 36-year-old female patient who was diagnosed as AML-M4 on peripheral smear and bone marrow evaluation. Cytogenetic studies revealed concurrent presence of inv(16) and trisomy 9. To the best of our knowledge, this is the first case in published literature with simultaneous presence of inv(16)(p13q22) and trisomy 9 in de novo AML.","PeriodicalId":16149,"journal":{"name":"Journal of Laboratory Physicians","volume":"15 1","pages":"142-145"},"PeriodicalIF":0.9000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/74/9b/10-1055-s-0042-1750070.PMC10104711.pdf","citationCount":"0","resultStr":"{\"title\":\"Acute Myeloid Leukemia with Concurrent Inversion 16 and Trisomy 9: A Case Report.\",\"authors\":\"Ambreen Aman, Kavitha B Lingappa, Deepika G Sujatha, Subhan Ali Rajasab, Siddapa Shantala\",\"doi\":\"10.1055/s-0042-1750070\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract Acute myeloid leukemia (AML) are a diverse group of hematological malignancies, each with a distinct clinical, morphological, immunophenotypic, and molecular profile. The World Health Organization (WHO) classifies AML into various subtypes based on recurrent genetic abnormalities, each of which has clinico-pathological and prognostic significance. Inversion(16)(p13q22) or t(16;16)(p13q22) is a balanced structural chromosomal abnormality associated with complete remission and a favorable response to treatment. Trisomy 9 is a numerical chromosomal abnormality with an intermediate risk and is often seen in association with other cytogenetic abnormalities. We describe a case of a 36-year-old female patient who was diagnosed as AML-M4 on peripheral smear and bone marrow evaluation. Cytogenetic studies revealed concurrent presence of inv(16) and trisomy 9. To the best of our knowledge, this is the first case in published literature with simultaneous presence of inv(16)(p13q22) and trisomy 9 in de novo AML.\",\"PeriodicalId\":16149,\"journal\":{\"name\":\"Journal of Laboratory Physicians\",\"volume\":\"15 1\",\"pages\":\"142-145\"},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2023-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/74/9b/10-1055-s-0042-1750070.PMC10104711.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Laboratory Physicians\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0042-1750070\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Laboratory Physicians","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0042-1750070","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Acute Myeloid Leukemia with Concurrent Inversion 16 and Trisomy 9: A Case Report.
Abstract Acute myeloid leukemia (AML) are a diverse group of hematological malignancies, each with a distinct clinical, morphological, immunophenotypic, and molecular profile. The World Health Organization (WHO) classifies AML into various subtypes based on recurrent genetic abnormalities, each of which has clinico-pathological and prognostic significance. Inversion(16)(p13q22) or t(16;16)(p13q22) is a balanced structural chromosomal abnormality associated with complete remission and a favorable response to treatment. Trisomy 9 is a numerical chromosomal abnormality with an intermediate risk and is often seen in association with other cytogenetic abnormalities. We describe a case of a 36-year-old female patient who was diagnosed as AML-M4 on peripheral smear and bone marrow evaluation. Cytogenetic studies revealed concurrent presence of inv(16) and trisomy 9. To the best of our knowledge, this is the first case in published literature with simultaneous presence of inv(16)(p13q22) and trisomy 9 in de novo AML.