Phu Chi Dung , Huynh Duc Vinh Phu , Cao Van Dong , Chau Thuy Ha , Nguyen Thi Thanh Ha , Tran Ngoc Xuan Thy , Le Vu Ha Thanh , Huynh Nghia , Nguyen Tan Binh , Hoang Anh Vu , Phan Thi Xinh , Cao Sy Luan
{"title":"Characteristics of BCR::ABL1 kinase domain mutations in Vietnamese chronic myeloid leukemia patients","authors":"Phu Chi Dung , Huynh Duc Vinh Phu , Cao Van Dong , Chau Thuy Ha , Nguyen Thi Thanh Ha , Tran Ngoc Xuan Thy , Le Vu Ha Thanh , Huynh Nghia , Nguyen Tan Binh , Hoang Anh Vu , Phan Thi Xinh , Cao Sy Luan","doi":"10.1016/j.lrr.2025.100512","DOIUrl":"10.1016/j.lrr.2025.100512","url":null,"abstract":"<div><h3>Background</h3><div><em>BCR::ABL1</em> kinase domain (KD) mutations represent a common cause of resistance to tyrosine kinase inhibitors in chronic myeloid leukemia (CML) patients. The frequency and pattern of KD mutations differ among populations worldwide. However, the characteristics of KD mutations in Vietnamese patients remain unclear.</div></div><div><h3>Methods</h3><div>A retrospective cohort study of CML patients at Blood Transfusion Hematology Hospital who were resistant to frontline imatinib between Oct 2010 and Oct 2018. Direct sequencing technique was performed to detect KD mutations.</div></div><div><h3>Results</h3><div>488 imatinib-resistant CML patients were included in our study. The median age of the patients was 39, with the majority (82.1 %) diagnosed with chronic phase at the time of resistance. KD mutations were identified in 173 (35.5 %) patients, with 8 cases involving novel variants. The KD mutations predominantly localized within the P-loop of BCR::ABL1 (36.7 %). G250E was the most common mutation, followed by Y253H, M351T, and M244V. In particular, Y253H, T315I, F359V, F317L, E355G, and Q252H were frequently observed in accelerated phase and blast crisis patients. In addition, M244V, T315I, E459K, E255K, F317L, Q252H and E355G were all observed in primary resistant patients.</div></div><div><h3>Conclusion</h3><div>The emergence of certain specific mutations may serve as the early indicators of leukemic progression, necessitating prompt intervention for better disease control.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"23 ","pages":"Article 100512"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143887379","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}
Cecilia Anna Fidanza , Ramona Cassin , Francesca Cavallaro , Giorgio Alberto Croci , Francesca Gaia Rossi Dardanoni , Wilma Barcellini , Francesco Passamonti
{"title":"A case report of vanishing bile duct syndrome and diffuse large b cell lymphoma: An uncommon association","authors":"Cecilia Anna Fidanza , Ramona Cassin , Francesca Cavallaro , Giorgio Alberto Croci , Francesca Gaia Rossi Dardanoni , Wilma Barcellini , Francesco Passamonti","doi":"10.1016/j.lrr.2025.100511","DOIUrl":"10.1016/j.lrr.2025.100511","url":null,"abstract":"<div><div>We report a rare case of vanishing bile duct syndrome (VBDS) associated with diffuse large B cell lymphoma (DLBCL). VBDS is an uncommon ductopenic disorder associated with various underlying conditions, for which timely treatment is crucial to prevent poor outcomes. Our patient received six cycles of R-CHOP chemotherapy every 21 days with halved doxorubicin and vincristine doses, and prophylactic intrathecal chemotherapy. A complete response of DLBCL and normalization of liver parameters were achieved upon completion of treatment. We conclude that, when VBDS is diagnosed, one can consider to urgently reach lymphoma remission even balancing the dose reduction of hepatotoxic drugs.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"23 ","pages":"Article 100511"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143878653","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}
Saja I. AbuGhannam , Celina R. Andonie , Yousef Abu Asbeh , Aliaa’ Khalili
{"title":"A rare presentation of multiple myeloma with concurrent paraskeletal extramedullary thoracic plasmacytoma: A case report","authors":"Saja I. AbuGhannam , Celina R. Andonie , Yousef Abu Asbeh , Aliaa’ Khalili","doi":"10.1016/j.lrr.2025.100501","DOIUrl":"10.1016/j.lrr.2025.100501","url":null,"abstract":"<div><div>Multiple myeloma is a hematological malignancy that results from the proliferation of abnormal plasma cells, typically invading the bone marrow but occasionally involving other areas of the body. We present a rare case of a 58-year-old male patient who presented with right-sided thoracic wall mass, which was eventually diagnosed through imaging and biopsy as paraskeletal extramedullary plasmacytoma with concurrent multiple myeloma. The patient exhibited symptoms of chest pain and swelling, with radiological features of a large right-sided chest wall mass. The diagnosis shows the fact that radiological presentations are quite nonspecific, often mimicking other malignancies. Such cases, therefore, require further assistance from thoracic surgery and interventional radiology in addition to advanced imaging techniques such as FDG- PET. He was subsequently treated with a three-drug regimen (VTD-Zometa protocol) including velcade, thalidomide, and dexamethasone, considering radiation versus complete surgical exicion due to the size of the mass. This case also supports the idea that clinical diversity exists among multiple myeloma and that considering paraskeletal extramedullary plasmacytoma must be given due importance when dealing with differential diagnosis of chest wall tumors in old age, although extremely rare. Early diagnosis and exclusion of all other possible diagnoses are also critical for the best possible treatment planning and outcome.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"23 ","pages":"Article 100501"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143453726","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}
{"title":"Clonal eosinophilia with exclusive pulmonary involvement driven by PDGFRA rearrangement treated with imatinib: A case report","authors":"Zaineb Mlayah, Inés Ben-Rekaya, Inaam Bizid, Nader Slama, Sara Boukhris, Mohamed-Adnene Laatiri","doi":"10.1016/j.lrr.2025.100502","DOIUrl":"10.1016/j.lrr.2025.100502","url":null,"abstract":"<div><div>Hypereosinophilic syndrome (HES) was first described in 1968 by Hardy and Anderson. It is a group of rare, multisystemic and heterogeneous pathologies, characterized by significant morbidity and mortality. The occurrence of clonal hypereosinophilic syndrome associated with FIP 1L1-PDGFRA+ is estimated to range between 0.31 and 6.3 cases per million individuals. The organs most commonly impacted are the heart and spleen, with the lungs being the next most affected. Clonal hypereosinophilic syndromes with exclusive pulmonary involvement are exceptional. Due to the rarity of clonal HES, this report aims to not only describe the patient's clinical, biological, and radiological manifestations of clonal HES but also enrich the literature to ameliorate the management of this uncommon syndrome.</div><div>we report the case of a patient with past medical history of obstructive bronchopneumopathy who was presented with cough and dyspnea. Investigations revealed peripheral blood hypereosinophilia (between 4000 and 9000/mm3) which lead us to suspect clonal hypereosinophilic syndrome (HES). This diagnosis was confirmed by cytogenetics/fluorescence in situ hybridization (FISH) which demonstrated a positive FIP 1L1-PDGFRA rearrangement. The CTAP confirmed isolated lung involvement with interstitial infiltrate of the subpleural territories of both lung bases and the bronchoalveolar lavage showed eosinophil count elevated at 15%. The patient was treated by imatinib at a dose of 100 mg/day was initiated. The patient follow-up showed a reduction in eosinophils count to 7500/mm3 at two months of treatment. A molecular evaluation is scheduled in 3 months to assess the response to imatinib.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"23 ","pages":"Article 100502"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143550306","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}
{"title":"FLT3 and NPM1 mRNA expression-based risk stratification of de novo acute Myeloid Leukemia","authors":"Donghyun Kim , Grerk Sutamtewagul , Yeonhwa Yu","doi":"10.1016/j.lrr.2024.100494","DOIUrl":"10.1016/j.lrr.2024.100494","url":null,"abstract":"<div><div>Prognostication of acute myeloid leukemia (AML) at initial diagnosis relies on identification of pre-determined underlying genetic abnormalities. Nevertheless, the disease course of AML remains highly unpredictable and robust reliable prognostic biomarkers for newly diagnosed AML are lacking. We retrospectively explored two publicly available AML RNA-Seq datasets and found that inferior overall survival was associated with high-<em>FLT3</em> and low-<em>NPM1</em> transcript levels (“<em>FLT3</em><sup>high</sup>/<em>NPM1</em><sup>low</sup>”) compared to low-<em>FLT3</em> and high-<em>NPM1</em> transcript levels (“<em>FLT3</em><sup>low</sup>/<em>NPM1</em><sup>high</sup>”) in adult <em>de novo</em> AML patients, with a hazard ratio for death of at least 2. Transcript level-dependent differential overall survival was independent from the underlying <em>FLT3</em> or <em>NPM1</em> genotypes. Our two-gene RNA expression-based <em>de novo</em> AML risk stratification may supplement and fine-tune traditional genetic aberration-based prognostication methods.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"23 ","pages":"Article 100494"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11743808/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013510","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}
{"title":"Retreatment with brentuximab vedotin for discordant peripheral T-cell lymphomas","authors":"Gen Hasegawa , Noriharu Nakagawa , Yoshimichi Ueda , Masahide Yamazaki","doi":"10.1016/j.lrr.2025.100500","DOIUrl":"10.1016/j.lrr.2025.100500","url":null,"abstract":"<div><div>Brentuximab vedotin (BV) has demonstrated efficacy against CD30<sup>+</sup> peripheral T-cell lymphoma (PTCL). We herein report a case of CD30<sup>+</sup> peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) that emerged one month after completing BV, cyclophosphamide, doxorubicin, and prednisone (BV-CHP) therapy for anaplastic large cell lymphoma (ALCL) and responded to retreatment with BV monotherapy. This case suggests that CD30<sup>+</sup> PTCL emerging shortly after BV-CHP therapy may respond to retreatment with BV monotherapy, even if the phenotype differs from the initial diagnosis.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"23 ","pages":"Article 100500"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11786849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081026","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}
Magdalena Witkowska , Mikołaj Malicki , Weronika Marcinkowska , Kacper Kościelny , Adrianna Kowalik , Damian Mikulski , Grzegorz Mirocha
{"title":"Nivolumab for relapsed and refractory classical Hodgkin lymphoma: retrospective single center analysis","authors":"Magdalena Witkowska , Mikołaj Malicki , Weronika Marcinkowska , Kacper Kościelny , Adrianna Kowalik , Damian Mikulski , Grzegorz Mirocha","doi":"10.1016/j.lrr.2025.100519","DOIUrl":"10.1016/j.lrr.2025.100519","url":null,"abstract":"<div><div>With the introduction of doxorubicin, bleomycin, vinblastine, and dacarbazine (ABVD) and radiation combined, the prognosis of Hodgkin lymphoma (HL) has significantly improved, with 5-year overall survival of around 90 %. While the lymphoma has become highly curable, the side effects of ABVD treatment are dire and warrant continuous review. Immune checkpoint inhibitors, including nivolumab, have demonstrated high therapeutic efficacy in relapsed and refractory HL patients. Nevertheless, despite much data, the therapy duration and long-term efficacy question remains unresolved. In this retrospective study, in a cohort of 10 patients, we observed a high complete response (CR) rate, while during long-term observation, 5 patients relapsed, and 3 had autoimmune treatment-related complications.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"24 ","pages":"Article 100519"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144481226","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}
Rabea Mecklenbrauck , Bernhard M.W. Schmidt , Heike Bähre , Annamaria Brioli , Arnold Ganser , Florian H. Heidel , Felicitas Thol
{"title":"Pharmacokinetics and outcome of high-dose melphalan followed by autologous stem cell transplantation in dialysis-dependent patients with multiple myeloma","authors":"Rabea Mecklenbrauck , Bernhard M.W. Schmidt , Heike Bähre , Annamaria Brioli , Arnold Ganser , Florian H. Heidel , Felicitas Thol","doi":"10.1016/j.lrr.2025.100522","DOIUrl":"10.1016/j.lrr.2025.100522","url":null,"abstract":"<div><div>High-dose melphalan followed by autologous stem cell transplantation (ASCT) remains the standard of care for fit patients with multiple myeloma (MM). However, individuals who are dependent on hemodialysis are frequently excluded from ASCT. Recommendations on chemotherapy dosing and hemodialysis scheduling vary in literature and definite conclusions are impeded by the heterogeneity of cohorts.</div><div>We aimed to evaluate the safety and efficacy of ASCT in patients with MM and end-stage renal disease and to examine the pharmacokinetics of melphalan on a fixed schedule of melphalan infusion and hemodialysis.</div><div>The outcome of 13 patients undergoing ASCT while being on hemodialysis between 2000 and 2022 was retrospectively analysed and compared to matched hemodialysis-independent patients. Melphalan plasma concentrations were measured in 4 hemodialysis-dependent and 5 independent patients.</div><div>Plasma concentrations of hemodialysis-dependent patients were comparable to hemodialysis-independent patients with a 6-hour interval between melphalan infusion and hemodialysis (<em>p</em> = 0.9). The rate of immediate side effects of high-dose melphalan was significantly higher in 13 dialysis-dependent patients compared to 47 matched controls despite not having prolonged neutropenia (<em>p</em> = 0.9). Overall survival both from d<sub>0</sub> of ASCT and diagnosis was comparable (<em>p</em> = 0.33 and <em>p</em> = 0.17, respectively).</div><div>Thus, adopting the proposed schedule and management of immediate side effects make ASCT a safe option for myeloma patients with end-stage renal disease.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"24 ","pages":"Article 100522"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144470364","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}
Saja Asakrah , Kristin K. Deeb , Nikolaos Papadantonakis , George Deeb
{"title":"Trans-differentiation of plasma cell neoplasm to acute myeloid leukemia with monocytic features: Case report of divergent phenotype with identical genotype","authors":"Saja Asakrah , Kristin K. Deeb , Nikolaos Papadantonakis , George Deeb","doi":"10.1016/j.lrr.2025.100504","DOIUrl":"10.1016/j.lrr.2025.100504","url":null,"abstract":"<div><div>Myeloid malignancies following treatment for plasma cell neoplasms (PCN) are infrequent but is a serious complication, often exhibiting complex karyotype and <em>TP53</em> mutations. Plasma cell myeloma lineage switch to a myeloid malignancy with evident clonal relatedness is seldomly reported. Here, we report a unique case of acute myeloid leukemia with monocytic differentiation that shares clonal features with an antecedent plasma cell myeloma with t(4;14)(<em>FGFR3::IGH</em>). This phenomenon differs from therapy-related myeloid neoplasm arising from an unrelated clone and underscores the need to elucidate the role of mutations in pathways such as MAPK (e.g., <em>BRAF</em> and <em>KRAS</em>) into lineage plasticity.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"23 ","pages":"Article 100504"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143479979","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}
Mohamed I Sharif, Ahmad S. Alotaibi, Ruah Alyamany, Ali Alahmari, Hanan Alkhaldi, Ayman Saad, Mansour Alfayez
{"title":"The road not taken: Exploring non-transplant options in De Novo philadelphia positive acute myeloid leukemia","authors":"Mohamed I Sharif, Ahmad S. Alotaibi, Ruah Alyamany, Ali Alahmari, Hanan Alkhaldi, Ayman Saad, Mansour Alfayez","doi":"10.1016/j.lrr.2025.100507","DOIUrl":"10.1016/j.lrr.2025.100507","url":null,"abstract":"<div><div>Acute myeloid leukemia (AML) is a heterogeneous disease with diverse molecular cytogenetic characteristics. Philadelphia-positive acute myeloid leukemia, a rare subtype of AML, is traditionally considered a high-risk, with the standard recommendation being an allogeneic hematopoietic cell transplant (HCT) in first remission. More recently, with better characterization and understanding of AML biology, novel therapies have been introduced. Drawing parallels from the advances seen in Philadelphia-positive acute lymphoblastic leukemia (ALL), the question arises whether potent tyrosine kinase inhibitors (TKI), such as ponatinib, in combination with AML-directed therapies, could be used in Philadelphia-positive AML, potentially eliminating the need for HCT in the first remission.</div><div>In this report, we review the literature on Philadelphia-positive AML, study a case where HCT was omitted, and explore potential signals that could support successful HCT omission.</div></div>","PeriodicalId":38435,"journal":{"name":"Leukemia Research Reports","volume":"23 ","pages":"Article 100507"},"PeriodicalIF":0.7,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143685841","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}