Leukemia Research Reports最新文献_第10页

NEW SHOWINGS OF 5Q- SYNDROME BASED ON SERIAL MEASUREMENTS OF BAALC-EXPRESSING STEM CELLS BURDEN IN BONE MARROW. 根据对骨髓中表达 baalc 的干细胞负荷的连续测量，发现了 5q- 综合征的新迹象。

Leukemia Research Reports Pub Date : 2024-01-01 DOI: 10.1016/j.lrr.2024.100423

A. Shakirova, M. Latypova, T. Gindina, N. Mamaev

{"title":"NEW SHOWINGS OF 5Q- SYNDROME BASED ON SERIAL MEASUREMENTS OF BAALC-EXPRESSING STEM CELLS BURDEN IN BONE MARROW.","authors":"A. Shakirova, M. Latypova, T. Gindina, N. Mamaev","doi":"10.1016/j.lrr.2024.100423","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100423","url":null,"abstract":"<div><h3>Introduction</h3><p>The 5q- deletion is macrocytic anemia syndrome with special clinical characteristics and relatively longer median survival with low probability of AML progression. The classification of this disease as MDS is still under debates. Molecular studies, such as tracking the leukemia-associated marker <em>BAALC</em>, may clarify this issue. Here we evaluated <em>BAALC</em>-expressing stem cells (<em>BAALC</em>-e SCs) in patient's with isolated 5q- syndrome and with different chromosomal abnormalities.</p></div><div><h3>Methods</h3><p>The study includes analysis of bone marrow (BM) from 16 patients with isolated 5q deletion and 15 samples of 5q- combined with additional non-identical chromosomal abnormalities. BMs from 10 MDS patients without 5q- but carrying other cytogenetic aberrations were studied as control group. Serial measurements of <em>BAALC</em>-e SCs were performed by qPCR using BAALC RQ Kit (Inogene, Russia). Cytogenetic study included standard karyotyping and FISH.</p></div><div><h3>Results</h3><p>The data analysis revealed that only 10% (2/16) of patients with isolated 5q- had <em>BAALC</em> gene overexpression. Further on, low <em>BAALC</em>-expressing stem cells were characteristic also in the group of 5q- combined with additional non-identical chromosomal aberrations (56%). Meanwhile, in control group this rate was higher (100%).</p></div><div><h3>Conclusions</h3><p>The presented data of <em>BAALC</em>-e SCs burdens in patients with isolated 5q- syndrome indicate that this pathology differs from typical MDS and can be considered as ribosomopathy with low risk of transformation to MDS or AML. From this position, the biological advantages of 5q deletion syndrome are obvious as an optimal clinical model for further study of MDS and AML formation at the level of leukemia-initiating cells.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100423"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S221304892400013X/pdfft?md5=418d9db7b324d20272e66defd848c656&pid=1-s2.0-S221304892400013X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103267","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}

引用次数: 0

FAMILIAL SAMD9L MUTATION WWTH VARIABLE CLINICAL PHENOTYPE OF MDS/AML MONOSOMY 7 AND APLASTIC ANEMIA: A CASE OF TWO AFFECTED SIBLINGS.. 家族性SAMD9L突变与MDS/AML单体7型和再生障碍性贫血的可变临床表型：两个受影响兄弟姐妹的病例.

Leukemia Research Reports Pub Date : 2024-01-01 DOI: 10.1016/j.lrr.2024.100417

K. Albiroty, A. Al Mughairy

{"title":"FAMILIAL SAMD9L MUTATION WWTH VARIABLE CLINICAL PHENOTYPE OF MDS/AML MONOSOMY 7 AND APLASTIC ANEMIA: A CASE OF TWO AFFECTED SIBLINGS..","authors":"K. Albiroty, A. Al Mughairy","doi":"10.1016/j.lrr.2024.100417","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100417","url":null,"abstract":"<div><h3>Introduction</h3><p>SAMD9L mutation has been associated with hematological malignancies. The mutation has diverse hematological phenotypes ranging from Myelodysplastic syndrome (MDS) to Acute myeloid leukemia (AML)involving chromosome 7 aberration and recently described the emerging phenotype of aplastic anemia. We report two siblings with SAMD9L germline mutation born to asymptomatic consanguineous parents. each with different hematological phenotype.</p></div><div><h3>Methods</h3><p>Case #1: A 7- year old girl presented with thrombocytopenia & 4% peripheral blasts. She has no dysmorphic features . Family history is negative for hematological malignancies or BMF. She was diagnosed with MDS- Monomsomy7 . She transformed to AML over few weeks During this period her sibling presented with aplastic anemia, his (WES) revealed germline SAMD9L mutation which was detected in his sister . During chemotherapy of AED; there was interrupted due to septic shock so She was bridged with (Azacitadine + Venetoclax) prior to haploidentical BMT Case#2: A10- week old male presented with respiratory symptoms. He was diagnosed with Aplastic anemia and CMV pneumonitis .He was not dysmorphic WES revealed germline SAMD9L Mutation. although normal immunology workup, Natural Killer cell dysfunction was suspected based on SAMD9L mutation detection, early age of presentation, & resistant CMV-Viremia. He was treated for CMV infection and decided for haploidentical BMT</p></div><div><h3>Results</h3><p>We suggest to include SAMD9/SAMD9L in the standard AMLMDS genetic panel if additional system involved like immunodeficiency, neurological or genitourinary anomaly.</p></div><div><h3>Conclusions</h3><p>the heterogeneity of SAMD9L mutation even in family. High index of suspicious of this germline mutation is warranted in children with MDS.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100417"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000074/pdfft?md5=9fe5ef3a9e359bef1eab407e716570b4&pid=1-s2.0-S2213048924000074-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103418","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}

引用次数: 0

KRAS MOSAIC MUTATION AND ITS TISSUE SPECIFICITY IN JUVENILE MYELOMONOCYTIC LEUKEMIA 幼年骨髓单核细胞白血病中的 kras 马赛克突变及其组织特异性

Leukemia Research Reports Pub Date : 2024-01-01 DOI: 10.1016/j.lrr.2024.100436

N. Takasugi , A. Sato , K. Koh , A. Nakazawa , M. Kato

{"title":"KRAS MOSAIC MUTATION AND ITS TISSUE SPECIFICITY IN JUVENILE MYELOMONOCYTIC LEUKEMIA","authors":"N. Takasugi , A. Sato , K. Koh , A. Nakazawa , M. Kato","doi":"10.1016/j.lrr.2024.100436","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100436","url":null,"abstract":"<div><h3>Introduction</h3><p>Somatic or germline mutations in genes regulating Ras-MAPK pathway have been identified in majority of Juvenile myelomonocytic leukemia (JMML) cases. Mosaicism of <em>KRAS</em> and <em>NRAS</em> mutations in JMML were reported, with variation in the proportion of cells carrying these mutations across different organs. However, how this proportion is distributed across different organs had not been clarified whereas prevalence of somatic oncogenic <em>KRAS</em> mutations are known.</p></div><div><h3>Methods</h3><p>Our study focused on one JMML patient with mosaic <em>KRAS</em> G12D mutation and uniparental disomy at the 12p locus, who developed aggressive transformation, invasion into multiple organs and subsequently died. DNA from FFPE biopsy samples of eighteen organs were analyzed using mutation-specific digital PCR (dPCR). The variant allele frequency (VAF) of <em>KRAS</em> G12D and hetero SNP at the 12p locus were analyzed in each samples to remove the impact of mutation by infiltrating tumor cells and to estimate the percentage of <em>KRAS</em> mutant cells.</p></div><div><h3>Results</h3><p><em>KRAS</em> G12D mutations were identified in samples from sixteen of eighteen analyzed tissues. The frequency of <em>KRAS</em> G12D mutated alleles varied among different tissue type and the median VAF was 5.9% (2.0% -29.3%). The VAF were relatively high in gastrointestinal tract (stomach, colon, ileum), liver and spleen, whereas the VAF were low or undetected in testis, heart and spinal cord.</p></div><div><h3>Conclusions</h3><p>Our findings suggest that <em>KRAS</em> mosaic mutations can exhibit tissue specificity like somatic oncogenic mutations. These tissue distribution might be associated with pathogenesis of JMML and other types of cancer with mosaicism.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100436"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000268/pdfft?md5=75171d6574de57b01fac22c459f88044&pid=1-s2.0-S2213048924000268-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103878","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}

引用次数: 0

LUSPATERCEPT IN TRANSFUSION-DEPENDENT MYELODYSPLASTIC SYNDROMES: REAL WORLD DATA 输血依赖性骨髓增生异常综合征中的 luspatercept：真实世界的数据

Leukemia Research Reports Pub Date : 2024-01-01 DOI: 10.1016/j.lrr.2024.100443

Y. Gong , L. Zhou , T. Zhang , D. Xu , Y. Zhang , J. Shi , J. Li , G. He

{"title":"LUSPATERCEPT IN TRANSFUSION-DEPENDENT MYELODYSPLASTIC SYNDROMES: REAL WORLD DATA","authors":"Y. Gong , L. Zhou , T. Zhang , D. Xu , Y. Zhang , J. Shi , J. Li , G. He","doi":"10.1016/j.lrr.2024.100443","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100443","url":null,"abstract":"<div><h3>Introduction</h3><p>Luspatercept reduced the severity of anemia in transfusion-dependent lower risk MDS with ring sideroblasts (RS) in the MEDALIST trial. Here we present real-world data in a prospective multicenter registry study of MDS patients treated with luspatercept (ChiCTR2300071857). Patients who were not enrolled in the MEDALIST trial were also evaluated, including those of higher IPSS-R risk, without ring sideroblasts, or failed to prior hypomethylating agent (HMA) therapy.</p></div><div><h3>Methods</h3><p>Eligible patients were ≥ 18 years old and were RBC transfusion-dependent (defined as ≥2 units of RBC transfusion per 8 weeks). Primary endpoint was RBC transfusion independence (RBC-TI) for ≥8 weeks. Secondary endpoints are hematological improvement-erythroid (HI-E, defined as >50% reduction in RBC transfusion), neutrophil (HI-N) and platelet (HI-P) per the IWG 2006 criteria.</p></div><div><h3>Results</h3><p>From June 2022 to August 2023, 25 patients were treated with luspatercept for a median of 7 cycles <strong>(Table 1)</strong>. The median follow-up time was 19.4 weeks. The rate of RBC-TI was 36%. The median duration of RBC-TI was 227 [IQR: 129-324] days. The rates of HI-E, HI-N, HI-P were 52% (13/25), 21% (3/14) and 33% (5/15), respectively. Multi-variant analysis revealed that lower transfusion burden (<6 u/8w) favored higher RBC-TI rate (OR: 0.041, 95% CI: 0.003∼0.666, p=0.025), while other characteristics such as IPSS-R risk, presence of RS or <em>SF3B1</em> and prior therapy had no impact on the outcome <strong>(Table 1)</strong>.</p></div><div><h3>Conclusions</h3><p>Our real-world data confirms the clinical benefit of luspatercept observed in the MEDALIST trial. Luspatercept retains efficacy in patients without RS, or failed to prior HMA therapy.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100443"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000335/pdfft?md5=d52127e1c5b3f5d6660065b8b54c179f&pid=1-s2.0-S2213048924000335-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103892","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}

引用次数: 0

Myeloid neoplasms in inflammatory bowel disease: A case series and review of the literature 炎症性肠病中的髓样肿瘤：病例系列和文献综述

Leukemia Research Reports Pub Date : 2024-01-01 DOI: 10.1016/j.lrr.2024.100458

David M. Mueller , Daniel I. Nathan , Angela Liu , John Mascarenhas , Bridget K. Marcellino

引用次数: 0

A rare case of Blastic plasmacytoid dendritic cell neoplasm with gynecologic presentation 一例罕见的表现为妇科病的浆细胞性树突状细胞肿瘤

Leukemia Research Reports Pub Date : 2024-01-01 DOI: 10.1016/j.lrr.2024.100462

Marzouk Khouloud , Slama Nader , Bellalah Ahlem , Safra Ines , Hafsi Montacer , Chabbeh Rayhan

{"title":"A rare case of Blastic plasmacytoid dendritic cell neoplasm with gynecologic presentation","authors":"Marzouk Khouloud , Slama Nader , Bellalah Ahlem , Safra Ines , Hafsi Montacer , Chabbeh Rayhan","doi":"10.1016/j.lrr.2024.100462","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100462","url":null,"abstract":"<div><p>Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematological malignancy characterized by the proliferation of plasmacytoid dendritic cells with a blast-like appearance. It usually presents in elderly people, and clinical manifestations include nodular blue-violet skin lesions, bone marrow infiltration and, less frequently, extramedullary involvement. Gynecological manifestation (breast mass and exocervical lesion) is an unusual and rare presentation.</p><p>Herein, we report the case of a 51-year-old woman patient who presented with a history of a rapidly growing and bleeding breast mass, along with a decline in general health. Notably, the disease had multifocal involvement, affecting the breast, uterine cervix, and cervical lymphadenopathy.</p><p>Biopsies were performed on the breast mass and cervical lesion. Histopathological examination showed a diffuse lymphoid proliferation. The neoplastic cells show immunoreactivity for CD45 and CD56.</p><p>The myelogram showed a 50 % excess of blasts with a heterogeneous appearance with the presence of cells that could suggest dendritic plasmacytoid cells. Bone marrow immunophenotyping showed the presence of blast-like cells that were positive for CD4, CD56, CD123, which supported the diagnosis of BPDCN.</p><p>Despite initiating chemotherapy, the patient's condition rapidly deteriorated, highlighting the aggressive nature of BDCP. This case underscores the importance of early detection and the need for further research to improve outcomes for this rare condition.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100462"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000529/pdfft?md5=74f9636dea36ae93c2e73ad29a55bdc8&pid=1-s2.0-S2213048924000529-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141090650","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}

引用次数: 0

Indolent infections in patients with hematologic malignancy: A single-center experience screening for tuberculosis and strongyloidiasis prior to cytotoxic therapy in Boston 血液恶性肿瘤患者的惰性感染：波士顿细胞毒性治疗前结核病和圆线虫病的单中心筛查

IF 0.7

Leukemia Research Reports Pub Date : 2024-01-01 DOI: 10.1016/j.lrr.2024.100489

K.A. Reifler , T. Francoeur Smith , G. Bodanapu , M. Fagan , D.L. Bourque , J.M. Sloan

引用次数: 0

Management of patients with concurrent clonal plasma cell and myeloid disorders: A single center descriptive case series 并发克隆性浆细胞和骨髓性疾病患者的管理：单中心描述性病例系列

IF 0.7

Leukemia Research Reports Pub Date : 2024-01-01 DOI: 10.1016/j.lrr.2024.100469

Michael J. Hochman , Gloria F. Gerber , Philip H. Imus , Syed Abbas Ali , Amy E. DeZern

引用次数: 0

A comprehensive case study on successful multimodal therapy in philadelphia chromosome-positive acute myeloid leukemia with NPM1 and IDH2 mutations 费城染色体阳性急性髓性白血病（NPM1和IDH2突变）多模式疗法成功案例综合研究

Leukemia Research Reports Pub Date : 2024-01-01 DOI: 10.1016/j.lrr.2024.100461

Syed Muhammad Waqar Haider , Mehwish Zehra , Nikesh N Shah , Eduardo M Sotomayor , David M Swoboda

引用次数: 0

CLINICAL IMPLICATIONS OF COPY NUMBER ALTERATION DETECTION USING PANEL-BASED NEXT-GENERATION SEQUENCING DATA IN MYELODYSPLASTIC SYNDROME 在骨髓增生异常综合征中使用基于面板的下一代测序数据检测拷贝数变异的临床意义

Leukemia Research Reports Pub Date : 2024-01-01 DOI: 10.1016/j.lrr.2024.100426

S.-H. Jung , Y.-J. Chung

{"title":"CLINICAL IMPLICATIONS OF COPY NUMBER ALTERATION DETECTION USING PANEL-BASED NEXT-GENERATION SEQUENCING DATA IN MYELODYSPLASTIC SYNDROME","authors":"S.-H. Jung , Y.-J. Chung","doi":"10.1016/j.lrr.2024.100426","DOIUrl":"https://doi.org/10.1016/j.lrr.2024.100426","url":null,"abstract":"<div><h3>Introduction</h3><p>Recurrent somatic mutations are found in about 90 % of the MDS patients, and some of the mutations are known to have a prognostic value at various clinical stages of myelodysplastic syndrome (MDS). However, there are no specific guidelines for the assessment of CNAs, and the CNA test is not included in standard practice in the diagnosis and prognostication of MDS. Thus, there is a need to evaluate whether the detection of CNAs, in addition to genetic mutations, has clinical significance. In this study.</p></div><div><h3>Methods</h3><p>Targeted deep sequencing of 28 well-known MDS-related genes was performed for 266 patients with MDS. DNA copy number was estimated using the targeted deep sequencing data.</p></div><div><h3>Results</h3><p>Overall, 215 (80.8 %) patients were found to have at least one somatic mutation; 67 (25.2 %) had at least one CNA; 227 (85.3 %) had either a somatic mutation or CNA; and 12 had CNA without somatic mutations. Considering the clinical variables and somatic mutations alone, multivariate analysis demonstrated that sex, revised International Prognostic Scoring System (IPSS-R), and NRAS and TP53 mutations were independent prognostic factors for overall survival. For AML-free survival, these factors were sex, IPSS-R, and mutations in NRAS, DNMT3A, and complex karyotype/TP53 mutations. When we consider clinical variables along with somatic mutations and CNAs, genetic alterations in TET2, LAMB4, U2AF1, and CBL showed additional significant impact on the survivals.</p></div><div><h3>Conclusions</h3><p>In conclusion, our study suggests that the concurrent detection of somatic mutations and targeted CNAs may provide clinically useful information for the prognosis of MDS patients.</p></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"21 ","pages":"Article 100426"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2213048924000165/pdfft?md5=bb9a6504f28f2c39a136326e47d16d30&pid=1-s2.0-S2213048924000165-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140103291","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}

引用次数: 0