Pub Date : 2023-01-01DOI: 10.1016/j.lrr.2023.100370
Dong Chen , Guang Liu , Michael R. Lewis , Xia Li , Matthew Ulrickson , Rajneesh Nath , Weina Chen
We report a case of myeloid/lymphoid neoplasm with ZMYM2::FGFR1 rearrangement (MLNZMYM2::FGFR1) exhibiting a complex disease evolution. This neoplasm initially presented as T-lymphoblastic lymphoma (T-LBL) in lymph node and myeloproliferative neoplasm (MPN) with eosinophilia in bone marrow, then transitioned to systemic mastocytosis (SM) likely accompanied by additional JAK3 and other mutations and finally transformed to acute myeloid leukemia (AML) accompanied by additional/secondary genetic abnormality (gain of chromosome 21, der(13)t(8;13), and RUNX1 mutation). To our knowledge, this is the first case of MLNZMYM2::FGFR1 with a complex trilineage/phenotypic [T-cell (T-LBL), mast cell (SM), and myeloid (MPN and AML)] lineage evolution.
{"title":"Myeloid/lymphoid neoplasm with ZMYM2::FGFR1 rearrangement: A complex trilineage phenotypic and clonal evolution with associated genomic alterations","authors":"Dong Chen , Guang Liu , Michael R. Lewis , Xia Li , Matthew Ulrickson , Rajneesh Nath , Weina Chen","doi":"10.1016/j.lrr.2023.100370","DOIUrl":"https://doi.org/10.1016/j.lrr.2023.100370","url":null,"abstract":"<div><p>We report a case of myeloid/lymphoid neoplasm with <em>ZMYM2::FGFR1</em> rearrangement (MLN<em><sup>ZMYM2::FGFR1</sup></em>) exhibiting a complex disease evolution. This neoplasm initially presented as T-lymphoblastic lymphoma (T-LBL) in lymph node and myeloproliferative neoplasm (MPN) with eosinophilia in bone marrow, then transitioned to systemic mastocytosis (SM) likely accompanied by additional <em>JAK3</em> and other mutations and finally transformed to acute myeloid leukemia (AML) accompanied by additional/secondary genetic abnormality (gain of chromosome 21, der(13)t(8;13), and <em>RUNX1</em> mutation). To our knowledge, this is the first case of MLN<em><sup>ZMYM2::FGFR1</sup></em> with a complex trilineage/phenotypic [T-cell (T-LBL), mast cell (SM), and myeloid (MPN and AML)] lineage evolution.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49856568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.1016/j.lrr.2023.100386
Muhammad Salman Faisal , Pamela J. Sung
CEBPA variants are frequently recurring in acute myeloid leukemia (AML). The prognostic significance of CEBPA mutations has recently undergone a major shift in the 5th edition of WHO classification of hematological neoplasms and ELN 2022 classification. Whereas prior iterations did not specify the type of CEBPA mutation, the updated schema specify that only mutations localized to the C-terminal basic zipper (bZIP) domain are considered prognostically favorable. This change is based primarily on three recently published large datasets evaluating the prognostic significance of mutation location in CEBPA mutant AML. Here, we review the evolution of the prognostic classification of CEBPA variants.
{"title":"Location, location, location: A mini-review of CEBPA variants in patients with acute myeloid leukemia","authors":"Muhammad Salman Faisal , Pamela J. Sung","doi":"10.1016/j.lrr.2023.100386","DOIUrl":"https://doi.org/10.1016/j.lrr.2023.100386","url":null,"abstract":"<div><p><em>CEBPA</em> variants are frequently recurring in acute myeloid leukemia (AML). The prognostic significance of <em>CEBPA</em> mutations has recently undergone a major shift in the 5th edition of WHO classification of hematological neoplasms and ELN 2022 classification. Whereas prior iterations did not specify the type of <em>CEBPA</em> mutation, the updated schema specify that only mutations localized to the C-terminal basic zipper (bZIP) domain are considered prognostically favorable. This change is based primarily on three recently published large datasets evaluating the prognostic significance of mutation location in <em>CEBPA</em> mutant AML. Here, we review the evolution of the prognostic classification of <em>CEBPA</em> variants.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49857255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.1016/j.lrr.2023.100369
Süreyya Yiğit Kaya , Abdullah Emre Askin , Sebnem Bektas , Aslı Çakır , Ömür Gökmen Sevindik
Allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains an effective option for the treatment of intermediate and high-risk Acute myeloid leukemia (AML). Post-transplant lymphoproliferative disorder (PTLD) is related to the intensity of post-transplant immunosuppression. Although Epstein-Barr virus (EBV) seropositivity and reactivation can be a major risk factor for PTLD. A few PTLDs could be EBV negative. There are a very limited number of PTLD cases following HSCT in patients with AML. We present a differential diagnosis of cytopenias after allo-HSCT. This is the first report of an AML patient developing bone marrow EBV-negative PTLD relatively late in their post-transplant course.
{"title":"Newly onset cytopenias not always indicate a relapsing AML after allogeneic HSCT, a case of non-destructive post transplant lymphoproliferative disorder","authors":"Süreyya Yiğit Kaya , Abdullah Emre Askin , Sebnem Bektas , Aslı Çakır , Ömür Gökmen Sevindik","doi":"10.1016/j.lrr.2023.100369","DOIUrl":"10.1016/j.lrr.2023.100369","url":null,"abstract":"<div><p>Allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains an effective option for the treatment of intermediate and high-risk Acute myeloid leukemia (AML). Post-transplant lymphoproliferative disorder (PTLD) is related to the intensity of post-transplant immunosuppression. Although Epstein-Barr virus (EBV) seropositivity and reactivation can be a major risk factor for PTLD. A few PTLDs could be EBV negative. There are a very limited number of PTLD cases following HSCT in patients with AML. We present a differential diagnosis of cytopenias after allo-HSCT. This is the first report of an AML patient developing bone marrow EBV-negative PTLD relatively late in their post-transplant course.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6f/b3/main.PMC10195982.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9503223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.1016/j.lrr.2023.100390
Hareem Farooq , Ke Li , Talha Badar
Chronic lymphocytic leukemia (CLL) is one of the most common B-cell leukemias, occurring because of abnormal proliferation of non-functional B-lymphocytes. Progressive disease is commonly complicated by anemia, thrombocytopenia, infections as well as secondary malignancies. Bone marrow fibrosis is infrequently co-occurred along with CLL. Although multiple explanations have been proposed for this association, the etiology remains unclear in most cases. Bone marrow fibrosis occurring as a complication of CLL itself, however, is a rare entity. We present an uncommon case of a patient initially diagnosed with primary myelofibrosis but later revealed to have aggressive CLL leading to bone marrow fibrosis upon re-evaluation. Treatment for CLL resolved the bone marrow fibrosis completely, confirming our suspicion of fibrosis being secondary to CLL. This sheds light on the importance of understanding the etiology of bone marrow fibrosis in patients with CLL owing to its therapeutic implications. The utility of bone marrow biopsy in not only helping understand the etiology of the fibrosis but also providing prognostic information merits reconsideration of performing it in all cases of CLL.
{"title":"Aggressive chronic lymphocytic leukemia masked by extensive marrow fibrosis","authors":"Hareem Farooq , Ke Li , Talha Badar","doi":"10.1016/j.lrr.2023.100390","DOIUrl":"10.1016/j.lrr.2023.100390","url":null,"abstract":"<div><p>Chronic lymphocytic leukemia (CLL) is one of the most common B-cell leukemias, occurring because of abnormal proliferation of non-functional B-lymphocytes. Progressive disease is commonly complicated by anemia, thrombocytopenia, infections as well as secondary malignancies. Bone marrow fibrosis is infrequently co-occurred along with CLL. Although multiple explanations have been proposed for this association, the etiology remains unclear in most cases. Bone marrow fibrosis occurring as a complication of CLL itself, however, is a rare entity. We present an uncommon case of a patient initially diagnosed with primary myelofibrosis but later revealed to have aggressive CLL leading to bone marrow fibrosis upon re-evaluation. Treatment for CLL resolved the bone marrow fibrosis completely, confirming our suspicion of fibrosis being secondary to CLL. This sheds light on the importance of understanding the etiology of bone marrow fibrosis in patients with CLL owing to its therapeutic implications. The utility of bone marrow biopsy in not only helping understand the etiology of the fibrosis but also providing prognostic information merits reconsideration of performing it in all cases of CLL.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b2/56/main.PMC10480308.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10559774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.1016/j.lrr.2023.100377
Anna-Eve Turcotte , William F. Glass , Jamie S. Lin , Jan A. Burger
Membranous nephropathy (MN) is an uncommon renal presentation in patients with chronic lymphocytic leukemia (CLL), and as such, there is no standard therapy for these patients. A few cases of MN in CLL have been described with varying success in MN treatment involving alkylating agents and fludarabine. Here we report the first case of MN in a patient with CLL treated with ibrutinib with complete renal response. This presentation underlines the importance of recognizing rare glomerular diseases that may occur with CLL and offers a new therapeutic avenue to the treatment of CLL-associated MN.
{"title":"Membranous nephropathy in chronic lymphocytic leukemia responsive to ibrutinib: A case report","authors":"Anna-Eve Turcotte , William F. Glass , Jamie S. Lin , Jan A. Burger","doi":"10.1016/j.lrr.2023.100377","DOIUrl":"10.1016/j.lrr.2023.100377","url":null,"abstract":"<div><p>Membranous nephropathy (MN) is an uncommon renal presentation in patients with chronic lymphocytic leukemia (CLL), and as such, there is no standard therapy for these patients. A few cases of MN in CLL have been described with varying success in MN treatment involving alkylating agents and fludarabine. Here we report the first case of MN in a patient with CLL treated with ibrutinib with complete renal response. This presentation underlines the importance of recognizing rare glomerular diseases that may occur with CLL and offers a new therapeutic avenue to the treatment of CLL-associated MN.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e9/df/main.PMC10338352.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9881479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The presence of neutrophilic leukocytosis may underlie a wide variety of diseases. Some rare causes of neutrophilia might be chronic neutrophilic leukemia (CNL) and myelodysplastic/myeloproliferative neoplasm with neutrophilia (MDS with neutrophilia). Here we report a case of a 78-year-old woman who came to our ER due to severe leukocytosis and anemia on a routine check-up. The patient was asymptomatic and the last exams available showed a mild leukopenia and thrombocytopenia. The abdominal echography showed mild splenomegaly The patient underwent bone marrow (BM) examinations. One week later, the patient presented mental deterioration. The patient underwent a cranial CT and RMN that showed multiple lesions of 11 mm in the brain parenchyma, cerebellum and encephalic trunk. Another week later, the clinical presentations worsened: she was in a comatous state and feverish 40 °C unresponsive to steroid therapy. Autopsy showed a leukemic and hemorrhage infiltration in multiple organs and in the BM a cellularity of 100% represented by myeloid elements with a slowdown maturation with blasts 5%. According to WHO 2016 this case can be reported as an aCML, an MDS/MPN overlap syndrome that is difficult to differentiate from a CNL.
{"title":"A rare case of aCML associated with CNS involvement and with aggressive clinical course","authors":"Dorela Lame, Michelangelo Pianelli, Erika Morsia, Alberto Carturan, Gaia Goteri, Stefania Mancini, Attilio Olivieri, Antonella Poloni","doi":"10.1016/j.lrr.2023.100361","DOIUrl":"10.1016/j.lrr.2023.100361","url":null,"abstract":"<div><p>The presence of neutrophilic leukocytosis may underlie a wide variety of diseases. Some rare causes of neutrophilia might be chronic neutrophilic leukemia (CNL) and myelodysplastic/myeloproliferative neoplasm with neutrophilia (MDS with neutrophilia). Here we report a case of a 78-year-old woman who came to our ER due to severe leukocytosis and anemia on a routine check-up. The patient was asymptomatic and the last exams available showed a mild leukopenia and thrombocytopenia. The abdominal echography showed mild splenomegaly The patient underwent bone marrow (BM) examinations. One week later, the patient presented mental deterioration. The patient underwent a cranial CT and RMN that showed multiple lesions of 11 mm in the brain parenchyma, cerebellum and encephalic trunk. Another week later, the clinical presentations worsened: she was in a comatous state and feverish 40 °C unresponsive to steroid therapy. Autopsy showed a leukemic and hemorrhage infiltration in multiple organs and in the BM a cellularity of 100% represented by myeloid elements with a slowdown maturation with blasts 5%. According to WHO 2016 this case can be reported as an aCML, an MDS/MPN overlap syndrome that is difficult to differentiate from a CNL.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c8/32/main.PMC9867965.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9190559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Therapy-related leukemias(t-leukemia) are late complications arising from chemotherapy and radiotherapy. t-leukemia have a poor prognosis and are more difficult to treat compared to de novo leukemias. The authors present three cases of t-leukemia seen in our hospital in a three year period and discuss new updates concerning the treatment of t-leukemia.
{"title":"A case series of therapy-related leukemias: A deadly ricochet","authors":"Ronit Juthani , Ashish Ranjan Singh , Debdatta Basu","doi":"10.1016/j.lrr.2023.100382","DOIUrl":"10.1016/j.lrr.2023.100382","url":null,"abstract":"<div><p>Therapy-related leukemias(t-leukemia) are late complications arising from chemotherapy and radiotherapy. t-leukemia have a poor prognosis and are more difficult to treat compared to de novo leukemias. The authors present three cases of t-leukemia seen in our hospital in a three year period and discuss new updates concerning the treatment of t-leukemia.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10430146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10403491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.1016/j.lrr.2023.100388
Andrew D. Trunk, Sagar S. Patel, Josef T. Prchal, Douglas W. Sborov, Axel R. Zander, Catherine J. Lee
Allogeneic stem cell transplant can have high morbidity and mortality in patients with myelofibrosis (MF) and multiple myeloma (MM). This phase 2 study used a novel myeloablative regimen of split-dose busulfan, fludarabine, and then post-transplant cyclophosphamide. Four patients with MF and 2 with MM were enrolled. At 1 year, non-relapse mortality was 33.3%, and overall survival was 50%. Incidence of acute and chronic GVHD was 33.3% and 16.7%, respectively. Those surviving beyond 1 year (MF = 1, MM = 2) had durable remissions with a median follow-up of 42 months. This small study demonstrates relative safety & favorable key outcomes using this novel approach.
同种异体干细胞移植在骨髓纤维化(MF)和多发性骨髓瘤(MM)患者中具有很高的发病率和死亡率。这项2期研究使用了一种新的骨髓清除方案,即分剂量的布硫凡、氟达拉滨和移植后的环磷酰胺。4名MF患者和2名MM患者入组。1年无复发死亡率为33.3%,总生存率为50%。急性和慢性GVHD的发生率分别为33.3%和16.7%。存活超过1年(MF = 1, MM = 2)的患者持续缓解,中位随访时间为42个月。这项小型研究证明了相对安全性。使用这种新方法的有利关键结果。
{"title":"Allogeneic stem cell transplant for multiple myeloma & myelofibrosis with split-dose busulfan, fludarabine & cyclophosphamide","authors":"Andrew D. Trunk, Sagar S. Patel, Josef T. Prchal, Douglas W. Sborov, Axel R. Zander, Catherine J. Lee","doi":"10.1016/j.lrr.2023.100388","DOIUrl":"10.1016/j.lrr.2023.100388","url":null,"abstract":"<div><p>Allogeneic stem cell transplant can have high morbidity and mortality in patients with myelofibrosis (MF) and multiple myeloma (MM). This phase 2 study used a novel myeloablative regimen of split-dose busulfan, fludarabine, and then post-transplant cyclophosphamide. Four patients with MF and 2 with MM were enrolled. At 1 year, non-relapse mortality was 33.3%, and overall survival was 50%. Incidence of acute and chronic GVHD was 33.3% and 16.7%, respectively. Those surviving beyond 1 year (MF = 1, MM = 2) had durable remissions with a median follow-up of 42 months. This small study demonstrates relative safety & favorable key outcomes using this novel approach.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/71/d5/main.PMC10493243.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10239728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-01-01DOI: 10.1016/j.lrr.2023.100362
Bengt Zöller , Eric Manderstedt , Christina Lind-Halldén , Christer Halldén
{"title":"Contribution of rare and common coding variants to haematological malignancies in the UK biobank","authors":"Bengt Zöller , Eric Manderstedt , Christina Lind-Halldén , Christer Halldén","doi":"10.1016/j.lrr.2023.100362","DOIUrl":"10.1016/j.lrr.2023.100362","url":null,"abstract":"","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8a/70/main.PMC9852684.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10577950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}