EJHaem最新文献

{"title":"Multiple myeloma: A closer look at one of its faces","authors":"Radu Chiriac, Zofia Gross","doi":"10.1002/jha2.1098","DOIUrl":"10.1002/jha2.1098","url":null,"abstract":"<p>A 60-year-old man presented with worsening right-sided facial paresthesia and persistent chin numbness, along with general deterioration and confusion for 3 weeks.</p><p>Laboratory investigations revealed hypercalcemia (3.5 mmol/L; normal: 2.2‒2.7 mmol/L) and elevated creatinine (330 µmol/L; normal: 65‒119 µmol/L). Serum protein electrophoresis showed no monoclonal band, while light chain analysis indicated free kappa light chains at 6.2 mg/L (normal: 3.3‒19.4 mg/L) and free lambda light chains at 8260 mg/L (normal: 5.7‒26 mg/L). Additionally, anemia (60 g/L) and thrombocytopenia (100 × 10⁹/L) were observed, with no abnormal circulating cells.</p><p>A whole-body computed tomography scan revealed a mass in the right infratemporal fossa (Figure 1A, upper panel, asterisk) extending into the right maxillary sinus, causing lysis of its lateral wall and continuing into the pterygopalatine fossa, with potential involvement of the maxillary (V2) and mandibular (V3) nerves. A mass in the left cheek caused minimal lysis of the left maxilla (Figure 1A, bottom panel, asterisk). No other lytic lesions were observed.</p><p>Involvement of cerebrospinal fluid was absent. Bone marrow aspirate exhibited large to giant atypical cells (averaging 60‒70 µm in diameter) with a polymorphic nuclear pattern (abnormally lobated or multinucleated), prominent nucleoli, and abundant deeply bluish, occasionally vacuolated cytoplasm (Figure 1B,C). Flow cytometry of the bone marrow aspirate showed no conclusive results; however, the morphological aspect suggested a rare variant of neoplastic plasma cells—megakaryocytoid—where the cells exhibited markedly increased size, similar to that of a megakaryocyte.</p><p>Furthermore, the bone marrow biopsy confirmed the diagnosis of multiple myeloma, with immunohistochemistry demonstrating the presence of lambda monoclonal plasma cells (CD38+, CD138+, CD56‒, and CD117+). The left cheek mass was also found to be infiltrated by plasma cells, which exhibited the same megakaryocytoid morphology. Epstein‒Barr encoding region in situ hybridization was negative. No expression of LMP1 EBNA1 or EBNA2 was detected. HHV8 staining was negative. No biopsy of the cranial mass was performed.</p><p>Fluorescence in situ hybridization on selected plasma cells detected a gain of the <i>IgH</i> (14q32) locus with variant rearrangement as the sole anomaly. Three years post-diagnosis, the patient shows myeloma progression and myeloma cast nephropathy despite partial response to multiple therapies, including ongoing treatment with carfilzomib, dexamethasone, and pomalidomide.</p><p>This case underscores the heterogeneous nature of neoplastic plasma cells, which can present with features resembling a wide range of hematologic and non-hematologic disorders, thus posing significant diagnostic challenges [<span>1</span>]. In this case, the cells exhibit large, atypical morphology with markedly pleomorphic nuclei, resembling dysplastic megakaryocytes.</p><p>Radu ","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048906","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":"Erythrocytapheresis as a strategy to manage anemia and iron overload in nondeletional hemoglobin H disease","authors":"Ke Zhang,&nbsp;John Bliamptis,&nbsp;Janice Park,&nbsp;Patricia Kopko,&nbsp;Amber P. Sanchez,&nbsp;Srila Gopal","doi":"10.1002/jha2.1089","DOIUrl":"10.1002/jha2.1089","url":null,"abstract":"<p>Hemoglobin H (HbH) disease is associated with anemia, ineffective erythropoiesis, and iron overload. We report a case of a patient with HbH/Hb Constant Spring disease, who was maintained on chronic transfusions as an adult due to symptomatic anemia. Over time, he developed iron overload and was started on chelation therapy but did not have an adequate response to chelation. We then added erythrocytapheresis to chelation therapy and were able to successfully decrease his iron burden while managing his anemia. Therapeutic erythrocytapheresis may be an effective treatment strategy for iron overload in HbH disease that is refractory to chelation.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756960/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048811","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":"HLA-matched related peripheral blood stem cell and bone marrow transplantation with RIC regimens yield comparable outcomes for adult AML","authors":"Takaya Mitsuyoshi,&nbsp;Yasuyuki Arai,&nbsp;Tadakazu Kondo,&nbsp;Takahito Kawata,&nbsp;Shigeki Hirabayashi,&nbsp;Masatsugu Tanaka,&nbsp;Yasuo Mori,&nbsp;Noriko Doki,&nbsp;Tetsuya Nishida,&nbsp;Takeharu Kotani,&nbsp;Masao Ogata,&nbsp;Takayuki Tabayashi,&nbsp;Tetsuya Eto,&nbsp;Masashi Sawa,&nbsp;Kazunori Imada,&nbsp;Junya Kanda,&nbsp;Tatsuo Ichinohe,&nbsp;Yoshiko Atsuta,&nbsp;Masamitsu Yanada","doi":"10.1002/jha2.1088","DOIUrl":"10.1002/jha2.1088","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Understanding differences in clinical outcomes between PBSCT and BMT is important, and this study compared outcomes of HLA-matched related PBSCT and BMT using reduced-intensity conditioning (RIC) in adult acute myeloid leukemia (AML) patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 402 patients who underwent either PBSCT (<i>n</i> = 294) or BMT (<i>n</i> = 108) between 2000 and 2022 were analyzed using the Japanese nationwide registry database. The primary endpoint was overall survival (OS), and secondary endpoints included disease-free survival (DFS), non-relapse mortality (NRM), and GVHD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Results indicated no significant difference in 3-year OS (44.6% for PBSCT vs. 46.9% for BMT, HR 1.173, P = 0.299) and DFS (42.1% vs. 41.8%, HR 1.073, P = 0.639). PBSCT was more beneficial for avoiding relapse (20.3% vs. 12.4%, HR, 0.715, P = 0.059). However, PBSCT was associated with higher NRM (20.3% vs. 12.4%, HR 1.801, P = 0.025) due to more frequent, chronic GVHD (HR 1.889, P = 0.035). Subgroup analysis did not reveal specific patient groups that benefited more from PBSCT or BMT. Incidence of extensive chronic GVHD and NRM has improved in PBSCT recipients in recent years (2014–2022).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We conclude that related PBSCT with RIC regimens offers comparable prognosis to BMT for adult AML patients. Further optimization of prophylactic strategies for chronic GVHD is required to improve outcomes after PBSCT.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756973/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048869","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":"Myeloma with BRAF p.V600E mutation and atypical plasma cells","authors":"Huan Mo,&nbsp;Raul C. Braylan","doi":"10.1002/jha2.1079","DOIUrl":"10.1002/jha2.1079","url":null,"abstract":"<p>About 5% of myelomas have mutations in the <i>BRAF</i> gene [<span>1</span>], only 14% of which have the p.V600E variant [<span>2</span>]. The detection of <i>BRAF</i> p.V600E mutations in the marrow may raise concerns for metastatic malignancy (such as melanoma) or hairy cell leukemia. Morphological features of myeloma with <i>BRAF</i> p.V600E have not yet been described in the literature.</p><p>This was a 55-year-old male with IgA Lambda M protein (1.3 g/dL) and multiple bone lesions. His blood count was unremarkable other than mild anemia (hemoglobin 11.1 g/dL). The bone marrow showed diffuse infiltration of neoplastic plasma cells (60%–70%) with eccentrically located large round nuclei, vesicular chromatin, centrally located single prominent nucleolus, abundant basophilic cytoplasm, and a frequent perinuclear hof (Figure 1 A, Wright Giemsa, 1000x; B, hematoxylin and eosin [H&amp;E], 1000x). The abnormal cells had a typical myeloma immunophenotype, expressing CD38, CD138 (Figure 1 C, red, 600x), MUM-1/IRF4 (Figure 1 D, 600x), normal/dim CD45, aberrant bright CD56, partial CD20 and no CD19, CD81, CD27, Cyclin D1, and S100. By in-situ hybridization stains, they were positive for Lambda (Figure 1 E, 600x) but negative for Kappa (Figure 1 F, 600x) expression. Although these plasma cells showed marked atypical features, the proliferation index based on simultaneous labeling of CD138 and Ki-67 (Figure 1 C, brown, 600x) was very low (&lt; 5%). <i>BRAF</i> p.V600E mutation was demonstrated by next-generation sequencing and immunohistochemical staining (Figure 1 G, 600x). A fluorescence in situ hybridization panel showed a hyperdiploid karyotype without high-risk abnormalities.</p><p>The <i>BRAF</i> p.V600E mutation is uncommon in myeloma. It is unknown if plasma cells in these cases exhibit atypical morphologic features like those in our case. The <i>BRAF</i> p.V600E mutation may raise potential alternative diagnoses such as metastatic melanoma, which may sometimes demonstrate cells mimicking atypical plasma cells.</p><p>The authors declare no conflict of interest.</p><p>The study samples were from a protocol approved by the Institutional Review Board.</p><p>A written informed consent was obtained from the participant.</p>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756980/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048911","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":"Intracytoplasmic inclusions in chronic lymphocytic leukemia cells of an elderly person living with human immunodeficiency virus and presenting with Richter transformation to Hodgkin lymphoma","authors":"Evashin Pillay,&nbsp;Ayanda Gugulethu Precious Jali,&nbsp;Nadine Rapiti","doi":"10.1002/jha2.1087","DOIUrl":"10.1002/jha2.1087","url":null,"abstract":"&lt;p&gt;A 65-year-old South African man living with HIV (human immunodeficiency virus; CD4 count: 557 cells/µL; HIV viral load: undetectable) since 2008 (medication: fixed-dose combination antiretroviral therapy—tenofovir, lamivudine, dolutegravir) presented with a progressively enlarging left-sided neck mass of 9 months’ duration. His associated symptoms included dysphagia and significant weight loss (&gt; 10% body weight during the previous 6 months).&lt;/p&gt;&lt;p&gt;At the initial consultation, his general examination was remarkable for muscle wasting, pallor, and generalized significant lymphadenopathy (LAD), most notably as a bulky left-sided neck mass (&gt; 10 cm). Systemic examination revealed tracheal deviation to the right, reduced breath sounds in the upper zone of the left lung, and epigastric fullness; no hepatosplenomegaly, ascites, or other pertinent signs. The overall clinical impression was that of an elderly, HIV-positive man presenting with features of bulky lymphomatous disease complicated by esophageal and tracheal obstruction.&lt;/p&gt;&lt;p&gt;A full blood count revealed a marked leukocytosis (white blood cells 73.85 × 10&lt;sup&gt;9&lt;/sup&gt;/L; lymphocytes 92% − 67.94 × 10&lt;sup&gt;9&lt;/sup&gt;/L; neutrophils 6% − 4.43 × 10&lt;sup&gt;9&lt;/sup&gt;/L), mild anemia (hemoglobin 11.9 g/dL, range 13.0−17.0; hematocrit 0.383 L/L), and mild thrombocytopenia (platelets 159 × 10&lt;sup&gt;9&lt;/sup&gt;/L, range 171−388); corrected reticulocyte count 0.92%.&lt;/p&gt;&lt;p&gt;Examination of the peripheral blood smear confirmed the lymphocytosis and revealed mainly small mature lymphocytes, in addition to a subpopulation (8%) of medium-sized, plasmacytoid counterparts (Figure 1A−I). The small tumor cells (Figure 1A,B; green arrows) and smudge cells (Figure 1H; top left corner) were morphologically characteristic of a mature lymphoid neoplasm. Nonetheless, a striking morphological feature was that of circumscribed, opaque, globular intracytoplasmic inclusions of variable size and number within the uniformly small lymphocytes (Figure 1A,B; black arrows) and the pleiomorphic medium-sized lymphocytes (Figure 1C−I; red arrows).&lt;/p&gt;&lt;p&gt;Peripheral blood immunophenotyping identified a weakly lambda-restricted B-cell population, positive for CD5, CD19, CD20 (weak), CD22 (weak), CD23, and CD200, without expression of FMC7 or CD10, diagnostic of chronic lymphocytic leukemia (CLL) (Matutes score 5) [&lt;span&gt;1&lt;/span&gt;]—Rai stage 1 (modified risk status: intermediate) and Binet stage B [&lt;span&gt;2&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;Other relevant results: beta 2-microglobulin (2.1 mg/L, range 0.6−2.4), protein electrophoresis (no paraprotein detected), serum free light chains (decreased Kappa:Lambda ratio of 0.25, range 0.26−1.65), and immunoglobulins (Ig) (normal IgG and IgA; reduced IgM).&lt;/p&gt;&lt;p&gt;A staging computed tomography scan demonstrated bulky LAD in the left cervical area extending from the submandibular to the supraclavicular region (9.5 × 11.2 × 13 cm—high tumor burden) [&lt;span&gt;2&lt;/span&gt;], causing deviation of the oropharynx, larynx, and superior tr","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756983/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048887","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":"Noninvasive prenatal testing in CLL during pregnancy: A cautionary tale","authors":"Jorn L. J. C. Assmann,&nbsp;Diane Van Opstal,&nbsp;Karin E. M. Diderich,&nbsp;Nicole Larmonie,&nbsp;Yorick Sandberg","doi":"10.1002/jha2.1067","DOIUrl":"10.1002/jha2.1067","url":null,"abstract":"&lt;p&gt;To the Editor:&lt;/p&gt;&lt;p&gt;Chronic lymphocytic leukemia (CLL) is the most common leukemia in the Western world, with a median age at diagnosis of 72 years. An estimated 2% of the patients are females of childbearing age. CLL cases during pregnancy are rare and are associated with many complications. Although the implications and management of CLL in pregnancy have been discussed previously, issues related to noninvasive prenatal testing (NIPT) are often overlooked [&lt;span&gt;1&lt;/span&gt;]. Various chromosomal changes are associated with CLL, with the deletion in the long arm of chromosome 13 at position q14 (deletion 13q14) being the most common alteration [&lt;span&gt;2&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;Since its implementation in clinical practice in 2011, NIPT was available to all pregnant women in the Netherlands in 2017. It has become a reliable and sensitive method of prenatal screening to evaluate the risk of fetal chromosomal imbalances. NIPT testing is primarily used to screen for Down (trisomy 21), Edwards (trisomy 18), or Patau (trisomy 13) syndromes. However, other deletions, such as del13q, can also be detected. NIPT can be performed as early as 10 weeks of gestations, and NIPT is based on the analysis of cell-free DNA (cfDNA) of which a small part is derived from the placenta, and the main part has a maternal origin [&lt;span&gt;3&lt;/span&gt;]. However, with the NIPT test that is used in the Netherlands [&lt;span&gt;4, 5&lt;/span&gt;], it is impossible to discriminate between fetal cfDNA and tumor-derived cfDNA, including CLL [&lt;span&gt;6&lt;/span&gt;]. The finding of a chromosome aberration warrants further investigation using invasive prenatal procedures, such as chorionic villus sampling or amniocentesis. Maternal neoplasms causing aberrant NIPT results are a complex matter in prenatal diagnosis [&lt;span&gt;7&lt;/span&gt;]. Cases describing discordant NIPT testing caused by a hematological malignancy remain very scarce [&lt;span&gt;8&lt;/span&gt;], and this is the first report of a patient with diagnosed CLL having a discordant NIPT result post CLL diagnosis due to a molecular aberration of CLL cells.&lt;/p&gt;&lt;p&gt;A 33-year-old woman with a 1-year history of untreated CLL, had NIPT performed at 13 1/7 gestational weeks as a first-tier screening test for fetal aneuploidies. Ultrasound examinations at 6 and 12 gestational weeks showed a single viable intrauterine pregnancy, biometry appropriate for gestational age, and absence of gross fetal anomalies. The NIPT results indicated a high risk for chromosome 13q14 deletion (Figure 1). Genetic counseling of the woman and her partner was done. Our primary goal was to rule out the fetal origin of the abnormal result. Therefore, single nucleotide polymorphism array (SNP-array) on amniotic fluid cells and peripheral blood of the mother was performed to verify the abnormal NIPT result. While a mosaic loss of 10 Mb was identified in the maternal blood within the 13q14.11q14.3 region (arr[hg19] 13q14.11q14.3(40,484,657-50,909,942)x1∼2), the amniotic fluid was normal. Fluorescent in situ hy","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756964/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048947","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":"Diagnosis and treatment of T/myeloid mixed phenotype acute leukaemia (T/M-MPAL)","authors":"Ke Xu,&nbsp;Enas Abusalim,&nbsp;Evan Vitsaras,&nbsp;Karen Orfinada,&nbsp;Robert Baker,&nbsp;Elisabeth Nacheva,&nbsp;Andrew Wilson,&nbsp;Jenny O'Nions,&nbsp;Rajeev Gupta","doi":"10.1002/jha2.1075","DOIUrl":"10.1002/jha2.1075","url":null,"abstract":"&lt;p&gt;Dear Editor,&lt;/p&gt;&lt;p&gt;T/myeloid mixed phenotype acute leukaemia (T/M-MPAL) is a rare leukaemia subtype, probably accounting for &lt;1% of all leukaemia cases [&lt;span&gt;1&lt;/span&gt;]. It is characterised by immunophenotypic features of both myeloid and T-lymphoid lineages. T/myeloid MPAL is distinct from T-cell acute lymphocytic leukaemia (T-ALL) and acute myeloid leukaemia (AML) but shares significant molecular and genomic similarity to early T-cell precursor-like ALL (ETP-ALL). T/myeloid MPAL has a poorer prognosis than AML, T-ALL and ETP-ALL. Therefore, it is essential to make the correct classification. The study aimed to evaluate the T/myeloid MPAL diagnosis and review patients' treatment regimens and outcomes.&lt;/p&gt;&lt;p&gt;A retrospective analysis was performed of all T/M-MPAL patients treated at University College London Hospital between February/2015 and April/2022 [&lt;span&gt;2&lt;/span&gt;]. The data cutoff date was 29/September/2024. The diagnosis of T/M-MPAL was made in accordance with the WHO diagnostic criteria [&lt;span&gt;1&lt;/span&gt;]. Response assessments were made per European LeukemiaNet (ELN) criteria [&lt;span&gt;3&lt;/span&gt;]. We reviewed bone marrow immunophenotyping (Beckman Coulter Duraclone), myeloid next-generation sequencing (NGS) (Archer VariantPlex, and TruSight Illumina) (Tables S1 and S2), fluorescence in situ hybridization (FISH) analysis, and molecular karyotyping (8 × 60K oligonucleotide arrays, Agilent) results.  For flow cytometry, bone marrow samples were prepared using T-Q Prep (Beckman Coulter), stained with a Duraclone kit (Beckman Coulter) (Table S3), and analysed on Navios flow cytometer (Beckman Coulter). Results were analysed using Kaluzo software (Beckman Coulter). Our standard diagnostic T/myeloid MPAL FISH panel consists of break apart or fusion probes targeting &lt;i&gt;KMT2A, CBFB::MYH11&lt;/i&gt;, &lt;i&gt;RUNX1T1::RUNX1&lt;/i&gt;, &lt;i&gt;PML::RARA&lt;/i&gt;, &lt;i&gt;MECOM, TCRA/D&lt;/i&gt; and probes targeting 5q, 7q, 20q and 17p (Cytocell).&lt;/p&gt;&lt;p&gt;Nine T/M-MPAL cases were identified among the cases of leukaemia with a median follow-up of 25 months [range 1–79 months] (Table 1). Of the nine patients, seven (78%) were male and two (22%) were female. The median age at diagnosis was 23 years old [range 13–73 years]. All patients' blast populations were positive for cCD3 (or CD3), MPO, CD34 and cCD34 and were negative for CD19 by flow cytometry. Myeloid markers CD117, CD13, and CD33 were positive at 66%, 88%, and 88%, respectively. T lymphoid markers CD2, CD5, and CD7 were positive at 55%, 44% and 100%, respectively (Table 1). Eight patients had NGS. The most common molecular abnormalities detected were &lt;i&gt;WT1&lt;/i&gt; (62%), &lt;i&gt;NRAS/KRAS&lt;/i&gt; (37%), and &lt;i&gt;BCOR&lt;/i&gt; (25%). Additional mutations detected were &lt;i&gt;NOTCH&lt;/i&gt; (12%), &lt;i&gt;RUNX1&lt;/i&gt; (12%), &lt;i&gt;TP53&lt;/i&gt; (12%), &lt;i&gt;IKZF1&lt;/i&gt; (12%), &lt;i&gt;IDH2&lt;/i&gt; (12%), and &lt;i&gt;U2AF1&lt;/i&gt; (12%). Polymerase chain reaction (PCR) for &lt;i&gt;FLT3&lt;/i&gt; ITD, &lt;i&gt;FLT3&lt;/i&gt; TKD and &lt;i&gt;NPM1&lt;/i&gt; was performed on all nine patients' samples. &lt;i&gt;FLT3&lt;/i&gt; TKD was expressed at 11%, an","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048758","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":"The association of donor and recipient sex on sepsis rates and hemoglobin increment among critically ill patients receiving red cell transfusions in a retrospective study","authors":"Wenhui Li,&nbsp;Yang Liu,&nbsp;Kayla J. Lucier,&nbsp;Nancy M. Heddle,&nbsp;Jason P. Acker","doi":"10.1002/jha2.1005","DOIUrl":"10.1002/jha2.1005","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Existing research presents conflicting results on the influence of blood donor sex on hemoglobin (Hb) change and transfusion-associated infection and mortality in transfusion recipients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>This retrospective study explored the association between donor and recipient sex on hospital-onset sepsis (HO-sepsis) and Hb changes in critically ill patients receiving red blood cell (RBC) transfusions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 2010–2020 were extracted from an academic hospital's clinical database and a blood supplier's donor database. HO-sepsis was determined based on the International Classification of Diseases and Related Health Problems 10th Revision (ICD-10) diagnostic codes without requiring a microbiology test within the first 48 h of admission. Hb increments were determined by comparing the last Hb result in the 24-h period prior to RBC unit issue and the first Hb result within 4–24 h after RBC unit issued for transfusion.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>25,585 critically ill patients received one or more RBC transfusions; 3,410 were included in the HO-sepsis and 3,487 in the Hb increment analysis. There was no significant differences in the HO-sepsis rate among the four groups, but female recipients were more prone to HO-sepsis than males (OR 1.48, <i>p</i> = 0.04). Multivariate analysis found that the number of RBC unit transfused (<i>p</i> = 0.001) and recipient age (<i>p</i> = 0.03), but not recipient sex (<i>p</i> = 0.63), were significant contributors to HO-sepsis. Male blood was associated with higher Hb than female blood in female recipients (<i>p</i> = 0.007), but not in male recipients (<i>p</i> = 0.75). Variables such as donor Hb levels and recipient Hb level influenced Hb increments.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Blood donor sex was not associated with HO-sepsis in critically ill patients receiving RBC transfusion. Male to female transfusions were associated with a higher Hb increment in recipients. Further exploration of the impact of sex mis-matched transfusion on recipient outcomes is warranted.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756991/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049029","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":"Uptake of the first to fifth doses of coronavirus disease 2019 vaccine in individuals with chronic lymphocytic leukaemia: A nationwide cohort study in Sweden","authors":"Pontus Hedberg,&nbsp;Lisa Blixt,&nbsp;Fredrik Granath,&nbsp;Peter Bergman,&nbsp;Christina Carlander,&nbsp;Soo Aleman,&nbsp;Lotta Hansson,&nbsp;the CLHIP study group","doi":"10.1002/jha2.1077","DOIUrl":"10.1002/jha2.1077","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>Patients with chronic lymphocytic leukaemia (CLL) have an increased risk of severe coronavirus disease 2019 (COVID-19) as well as impaired responses to COVID-19 vaccination, which may be overcome by repeated booster vaccinations. Our objective was to explore the uptake of the COVID-19 vaccine in this population since records of this are scarce.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In this nationwide cohort study, we used multiple population-based health and sociodemographic registries to study COVID-19 vaccine uptake in individuals with CLL in Sweden, from 27 December 2020 to 28 February 2023.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 6304 individuals were included. The cumulative incidence (95% confidence interval) at the end of the study period was 95%, 94%, 88%, 78% and 56% for the first, second, third, fourth and fifth doses, respectively. The uptake was significantly higher compared with the age-standardized nationwide uptake. However, there were large disparities, especially for the fourth and fifth doses, across different age groups, birth regions, and income quartiles. These differences were especially pronounced in intersectional analyses, where individuals born abroad in the lowest income quartile had a vaccine uptake of only 49% and 24% for the fourth and fifth doses, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Even though uptake was generally high in individuals with CLL, it seems to be declining from dose three and onwards, and there are significant sociodemographic disparities in vaccine uptake.</p>\u0000 </section>\u0000 </div>","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756972/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143048977","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":"Primary plasmablastic plasma cell leukemia: A diagnostic conundrum","authors":"Radu Chiriac,&nbsp;Juliette Fontaine","doi":"10.1002/jha2.1085","DOIUrl":"10.1002/jha2.1085","url":null,"abstract":"&lt;p&gt;A man in his 60s presented with a fever (39.9°C), persistent fatigue, and abnormal weight loss. Laboratory investigations revealed hypercalcemia (3.7 mmol/L), elevated LDH (880 U/L), elevated serum creatinine (2.8 mg/dL), along with anemia (67 g/L), thrombocytopenia (50 × 10&lt;sup&gt;9&lt;/sup&gt;/L), and 38% of circulating atypical-appearing lymphoid cells, varying in size and morphology, with inconspicuous nucleoli, cytoplasmic projections, and basophilic cytoplasm (Figure 1A). The absence of microscopic features characteristic of mature plasma cells hindered precise identification.&lt;/p&gt;&lt;p&gt;Bone marrow core biopsy showed massive infiltration by monomorphic, medium-sized cells with large, irregular nuclei and scant basophilic cytoplasm. The sample also exhibited a characteristic “starry-sky” appearance. Immunohistochemical staining (Figure 1B) revealed that the neoplastic cells were positive for CD138, MUM1, CCND1, BCL2, c-MYC, and kappa light chain, but negative for CD19, CD20, CD38, CD56, BCL6, ALK, and Human Herpesvirus-8 (HHV-8). The Ki-67 proliferation index was nearly 100%, with overexpression of p53 and c-MYC, and a confirmed &lt;i&gt;MYC&lt;/i&gt; rearrangement (Figure 1B, inset). In situ hybridization for Epstein-Barr virus (EBV)-encoded RNA was negative. Additionally, fluorescence in situ hybridization analysis of enriched plasma cells demonstrated a del(17)(p13.1) involving &lt;i&gt;TP53&lt;/i&gt; in 95% of cells (Figure 1C). HIV serology was negative. Serum protein electrophoresis showed no M spike but indicated hypogammaglobulinemia. The serum kappa/lambda free light chain ratio was 33.3. magnetic resonance imaging findings showed diffuse degenerative changes in the lumbar spine without vertebral collapse.&lt;/p&gt;&lt;p&gt;Given the phenotype (loss of pan-B-cell markers and expression of plasmacytic differentiation markers), bone lesions, absence of EBV and HHV-8 involvement, and myeloma-related secondary cytogenetic abnormalities (17p deletion and &lt;i&gt;MYC&lt;/i&gt; translocation), the diagnosis was more consistent with plasmablastic myeloma (PBM).&lt;/p&gt;&lt;p&gt;An autologous stem cell transplant was planned, but after the third cycle of Dara-VRd induction, the patient tested positive for severe acute respiratory syndrome coronavirus 2. Two weeks later, he was transferred to the ICU for acute respiratory distress syndrome and, a month later, died from respiratory complications due to multidrug-resistant &lt;i&gt;Pseudomonas aeruginosa&lt;/i&gt; ventilator-associated pneumonia.&lt;/p&gt;&lt;p&gt;The case demonstrates primary plasma cell leukemia with an uncommon plasmablastic morphology. The clinical presentation resembles that of acute leukemia and contrasts with classic plasma cell myeloma. The diverse morphologies of plasma cell neoplasms often mimic other hematopoietic and non-hematopoietic tumors, leading to their characterization as the “great imitator” [&lt;span&gt;1&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;Differential diagnostic considerations for PBM include lymphoid neoplasms with plasmablastic, immunoblastic, or plasmacytoid features, ","PeriodicalId":72883,"journal":{"name":"EJHaem","volume":"6 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143049004","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}