{"title":"成人HNRNPH1::ERG阳性急性髓性白血病明显缓解率低、预后差1例报告及文献复习","authors":"Yanyan Lu, Rui Wei, Jianlan Li, Lianrong Xu","doi":"10.1097/MD.0000000000041809","DOIUrl":null,"url":null,"abstract":"<p><strong>Rationale: </strong>Acute myeloid leukemia (AML) derived from t(5;21)(q35;q22) translocation, post-transcriptional translation, forming the HNRNPH1::ERG fusion gene is a rare group of recurrent chromosomal abnormality myeloid malignancies. Only 1 adult case of AML has been reported so far. Here we identified a disparate adult case of HNRNPH1::ERG positive AML with clear breakpoint locations by utilizing The RNA sequencing(RNA-seq) and we addressed the clinical, treatment, pathological and molecular mechanism, along with a review of the literature.</p><p><strong>Patients concerns: </strong>A 54-year-old man visited our department with fever and fatigue for 10 days.</p><p><strong>Diagnoses: </strong>Diagnosed with acute myeloid leukemia (AML) through morphology, immunology, Cytogenetics, and Molecular biology (MICM) typing, with a confirmed HNRNPH1-ERG fusion gene.</p><p><strong>Interventions: </strong>Multiple induction chemotherapy combined with targeted therapy was performed.</p><p><strong>Outcomes: </strong>He died in February 2024.</p><p><strong>Lessons: </strong>In our review, Only 1 adult case of AML has been reported so far. To summarize the 5 cases in the studies, the HNRNPH1::ERG positive AML cases had a significantly higher blast cell counts and more frequently companied with rare gene mutations, which characterized poorer prognosis and lower remission in adult HNRNPH1::ERG positive AML.</p>","PeriodicalId":18549,"journal":{"name":"Medicine","volume":"104 14","pages":"e41809"},"PeriodicalIF":1.4000,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11977748/pdf/","citationCount":"0","resultStr":"{\"title\":\"The adult HNRNPH1::ERG positive acute myeloid leukemia with clear lower remission and worse prognosis: A case report and review of the literature.\",\"authors\":\"Yanyan Lu, Rui Wei, Jianlan Li, Lianrong Xu\",\"doi\":\"10.1097/MD.0000000000041809\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Rationale: </strong>Acute myeloid leukemia (AML) derived from t(5;21)(q35;q22) translocation, post-transcriptional translation, forming the HNRNPH1::ERG fusion gene is a rare group of recurrent chromosomal abnormality myeloid malignancies. Only 1 adult case of AML has been reported so far. Here we identified a disparate adult case of HNRNPH1::ERG positive AML with clear breakpoint locations by utilizing The RNA sequencing(RNA-seq) and we addressed the clinical, treatment, pathological and molecular mechanism, along with a review of the literature.</p><p><strong>Patients concerns: </strong>A 54-year-old man visited our department with fever and fatigue for 10 days.</p><p><strong>Diagnoses: </strong>Diagnosed with acute myeloid leukemia (AML) through morphology, immunology, Cytogenetics, and Molecular biology (MICM) typing, with a confirmed HNRNPH1-ERG fusion gene.</p><p><strong>Interventions: </strong>Multiple induction chemotherapy combined with targeted therapy was performed.</p><p><strong>Outcomes: </strong>He died in February 2024.</p><p><strong>Lessons: </strong>In our review, Only 1 adult case of AML has been reported so far. To summarize the 5 cases in the studies, the HNRNPH1::ERG positive AML cases had a significantly higher blast cell counts and more frequently companied with rare gene mutations, which characterized poorer prognosis and lower remission in adult HNRNPH1::ERG positive AML.</p>\",\"PeriodicalId\":18549,\"journal\":{\"name\":\"Medicine\",\"volume\":\"104 14\",\"pages\":\"e41809\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2025-04-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11977748/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/MD.0000000000041809\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/MD.0000000000041809","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
The adult HNRNPH1::ERG positive acute myeloid leukemia with clear lower remission and worse prognosis: A case report and review of the literature.
Rationale: Acute myeloid leukemia (AML) derived from t(5;21)(q35;q22) translocation, post-transcriptional translation, forming the HNRNPH1::ERG fusion gene is a rare group of recurrent chromosomal abnormality myeloid malignancies. Only 1 adult case of AML has been reported so far. Here we identified a disparate adult case of HNRNPH1::ERG positive AML with clear breakpoint locations by utilizing The RNA sequencing(RNA-seq) and we addressed the clinical, treatment, pathological and molecular mechanism, along with a review of the literature.
Patients concerns: A 54-year-old man visited our department with fever and fatigue for 10 days.
Diagnoses: Diagnosed with acute myeloid leukemia (AML) through morphology, immunology, Cytogenetics, and Molecular biology (MICM) typing, with a confirmed HNRNPH1-ERG fusion gene.
Interventions: Multiple induction chemotherapy combined with targeted therapy was performed.
Outcomes: He died in February 2024.
Lessons: In our review, Only 1 adult case of AML has been reported so far. To summarize the 5 cases in the studies, the HNRNPH1::ERG positive AML cases had a significantly higher blast cell counts and more frequently companied with rare gene mutations, which characterized poorer prognosis and lower remission in adult HNRNPH1::ERG positive AML.
期刊介绍:
Medicine is now a fully open access journal, providing authors with a distinctive new service offering continuous publication of original research across a broad spectrum of medical scientific disciplines and sub-specialties.
As an open access title, Medicine will continue to provide authors with an established, trusted platform for the publication of their work. To ensure the ongoing quality of Medicine’s content, the peer-review process will only accept content that is scientifically, technically and ethically sound, and in compliance with standard reporting guidelines.