Janine Glanzmann, Christian Kalberer, Nicolas Bonadies, Giuseppe Colucci
{"title":"一名患有 MGUS 和急性髓性白血病并伴有 NPM1 基因突变的患者体内带有 Auer-rod 样包涵体的浆细胞。","authors":"Janine Glanzmann, Christian Kalberer, Nicolas Bonadies, Giuseppe Colucci","doi":"10.1111/bjh.19560","DOIUrl":null,"url":null,"abstract":"<p>A 76-year-old man with asymptomatic monoclonal gammopathy of undetermined significance (MGUS) type IgM kappa, presented with fever, joint pain, leucocytosis and monocytosis. On admission to hospital the blood count showed anaemia (haemoglobin concentration 102 g/L), leucocytosis with monoblasts (leucocytes 86.5 × 10<sup>9</sup> /L; monoblasts 48.5 × 10<sup>9</sup> /L) and thrombocytopenia (platelets 111 × 10<sup>9</sup> /L). A non-progressive paraprotein level of 3.5 g/L (IgM kappa) was confirmed.</p><p>Bone marrow aspirate showed hypercellularity with 85% blasts, and acute monocytic leukaemia was diagnosed. The other diagnostic procedures, including trephine biopsy, immunophenotyping, genetic studies and next-generation sequencing, allowed classification according to the WHO criteria as acute myeloid leukaemia (AML) with <i>NPM1</i>-Type A mutation, <i>FLT3</i>-ITD negative, with additional <i>DNMT3A</i> and <i>PTPN11</i> mutations, but no chromosomal anomalies. The patient was treated with azacitidine 75 mg/m<sup>2</sup> on days 1–5 and days 8–9, and with venetoclax 400 mg on days 1–14, achieving a complete remission after one cycle of chemotherapy. Bone marrow examination after two cycles of therapy showed a significant reduction of blasts (<2%).</p><p>Interestingly, plasma cells containing numerous intracellular Auer-rod-like, needle-shaped cytoplasmatic inclusions were observed (upper, plasma cells with and without intracytoplasmic inclusions, May–Grünwald–Giemsa stain, ×100 objective, total magnification ×1000). Retrospectively, the presence of rare plasma cells with the same cytoplasmatic inclusions were detected in the first bone marrow slide prepared at diagnosis of AML before chemotherapy (bottom, hypercellular bone marrow showing blasts and a single plasma cell with cytoplasmatic inclusions, May–Grünwald–Giemsa stain, ×60 objective, total magnification ×600). No Auer rods were detected in the myeloid blasts in either bone marrow smears.</p><p>Cytoplasmatic inclusions that are sometimes indistinguishable from Auer rods have been described in B-cell, myeloid or plasma cell malignancies. This case of MGUS and AML with <i>NPM1</i> mutation where ‘bundled’ Auer-rod-like structures were present in abnormal plasma cells of MGUS but not in blast cells emphasises the surprises that morphology can sometimes present.</p><p>No funding has been required for this morphological case.</p><p>No ethical approval was necessary for this case.</p><p>Written informed consent was obtained from the patient.</p><p>The written informed consent is enclosed separately.</p><p>No material is reproduced from other sources.</p><p>Not necessary.</p>","PeriodicalId":135,"journal":{"name":"British Journal of Haematology","volume":null,"pages":null},"PeriodicalIF":5.1000,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bjh.19560","citationCount":"0","resultStr":"{\"title\":\"Plasma cells with Auer-rod-like inclusions in a patient with MGUS and acute myeloid leukaemia with NPM1 mutation\",\"authors\":\"Janine Glanzmann, Christian Kalberer, Nicolas Bonadies, Giuseppe Colucci\",\"doi\":\"10.1111/bjh.19560\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>A 76-year-old man with asymptomatic monoclonal gammopathy of undetermined significance (MGUS) type IgM kappa, presented with fever, joint pain, leucocytosis and monocytosis. On admission to hospital the blood count showed anaemia (haemoglobin concentration 102 g/L), leucocytosis with monoblasts (leucocytes 86.5 × 10<sup>9</sup> /L; monoblasts 48.5 × 10<sup>9</sup> /L) and thrombocytopenia (platelets 111 × 10<sup>9</sup> /L). A non-progressive paraprotein level of 3.5 g/L (IgM kappa) was confirmed.</p><p>Bone marrow aspirate showed hypercellularity with 85% blasts, and acute monocytic leukaemia was diagnosed. The other diagnostic procedures, including trephine biopsy, immunophenotyping, genetic studies and next-generation sequencing, allowed classification according to the WHO criteria as acute myeloid leukaemia (AML) with <i>NPM1</i>-Type A mutation, <i>FLT3</i>-ITD negative, with additional <i>DNMT3A</i> and <i>PTPN11</i> mutations, but no chromosomal anomalies. The patient was treated with azacitidine 75 mg/m<sup>2</sup> on days 1–5 and days 8–9, and with venetoclax 400 mg on days 1–14, achieving a complete remission after one cycle of chemotherapy. Bone marrow examination after two cycles of therapy showed a significant reduction of blasts (<2%).</p><p>Interestingly, plasma cells containing numerous intracellular Auer-rod-like, needle-shaped cytoplasmatic inclusions were observed (upper, plasma cells with and without intracytoplasmic inclusions, May–Grünwald–Giemsa stain, ×100 objective, total magnification ×1000). Retrospectively, the presence of rare plasma cells with the same cytoplasmatic inclusions were detected in the first bone marrow slide prepared at diagnosis of AML before chemotherapy (bottom, hypercellular bone marrow showing blasts and a single plasma cell with cytoplasmatic inclusions, May–Grünwald–Giemsa stain, ×60 objective, total magnification ×600). No Auer rods were detected in the myeloid blasts in either bone marrow smears.</p><p>Cytoplasmatic inclusions that are sometimes indistinguishable from Auer rods have been described in B-cell, myeloid or plasma cell malignancies. This case of MGUS and AML with <i>NPM1</i> mutation where ‘bundled’ Auer-rod-like structures were present in abnormal plasma cells of MGUS but not in blast cells emphasises the surprises that morphology can sometimes present.</p><p>No funding has been required for this morphological case.</p><p>No ethical approval was necessary for this case.</p><p>Written informed consent was obtained from the patient.</p><p>The written informed consent is enclosed separately.</p><p>No material is reproduced from other sources.</p><p>Not necessary.</p>\",\"PeriodicalId\":135,\"journal\":{\"name\":\"British Journal of Haematology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":5.1000,\"publicationDate\":\"2024-07-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://onlinelibrary.wiley.com/doi/epdf/10.1111/bjh.19560\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"British Journal of Haematology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/bjh.19560\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"British Journal of Haematology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/bjh.19560","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"HEMATOLOGY","Score":null,"Total":0}
Plasma cells with Auer-rod-like inclusions in a patient with MGUS and acute myeloid leukaemia with NPM1 mutation
A 76-year-old man with asymptomatic monoclonal gammopathy of undetermined significance (MGUS) type IgM kappa, presented with fever, joint pain, leucocytosis and monocytosis. On admission to hospital the blood count showed anaemia (haemoglobin concentration 102 g/L), leucocytosis with monoblasts (leucocytes 86.5 × 109 /L; monoblasts 48.5 × 109 /L) and thrombocytopenia (platelets 111 × 109 /L). A non-progressive paraprotein level of 3.5 g/L (IgM kappa) was confirmed.
Bone marrow aspirate showed hypercellularity with 85% blasts, and acute monocytic leukaemia was diagnosed. The other diagnostic procedures, including trephine biopsy, immunophenotyping, genetic studies and next-generation sequencing, allowed classification according to the WHO criteria as acute myeloid leukaemia (AML) with NPM1-Type A mutation, FLT3-ITD negative, with additional DNMT3A and PTPN11 mutations, but no chromosomal anomalies. The patient was treated with azacitidine 75 mg/m2 on days 1–5 and days 8–9, and with venetoclax 400 mg on days 1–14, achieving a complete remission after one cycle of chemotherapy. Bone marrow examination after two cycles of therapy showed a significant reduction of blasts (<2%).
Interestingly, plasma cells containing numerous intracellular Auer-rod-like, needle-shaped cytoplasmatic inclusions were observed (upper, plasma cells with and without intracytoplasmic inclusions, May–Grünwald–Giemsa stain, ×100 objective, total magnification ×1000). Retrospectively, the presence of rare plasma cells with the same cytoplasmatic inclusions were detected in the first bone marrow slide prepared at diagnosis of AML before chemotherapy (bottom, hypercellular bone marrow showing blasts and a single plasma cell with cytoplasmatic inclusions, May–Grünwald–Giemsa stain, ×60 objective, total magnification ×600). No Auer rods were detected in the myeloid blasts in either bone marrow smears.
Cytoplasmatic inclusions that are sometimes indistinguishable from Auer rods have been described in B-cell, myeloid or plasma cell malignancies. This case of MGUS and AML with NPM1 mutation where ‘bundled’ Auer-rod-like structures were present in abnormal plasma cells of MGUS but not in blast cells emphasises the surprises that morphology can sometimes present.
No funding has been required for this morphological case.
No ethical approval was necessary for this case.
Written informed consent was obtained from the patient.
The written informed consent is enclosed separately.
期刊介绍:
The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.