Turkish Journal of Hematology最新文献

{"title":"Aleukemic Variant of Mast Cell Leukemia with del (7)(q31): Rare Case Report of an Elderly Chinese Man","authors":"Xiaoying Song, Yiping Yang, Zhanlong Wang, Jihong Hao","doi":"10.4274/tjh.galenos.2023.2022-0456","DOIUrl":"https://doi.org/10.4274/tjh.galenos.2023.2022-0456","url":null,"abstract":"","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"81 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136081134","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hb Andrew-Minneapolis Variant in a Turkish Family","authors":"Hamza Sümter, Soycan Mızrak, Serdar Ceylaner, Duran Canatan","doi":"10.4274/tjh.galenos.2023.2023-0239","DOIUrl":"10.4274/tjh.galenos.2023.2023-0239","url":null,"abstract":"There are a total of 1864 known structural hemoglobin (Hb) variants [1] and Hb Andrew-Minneapolis is a rare variant. Hb Andrew-Minneapolis is a beta-chain variant of hemoglobin, which is formed with the replacement of lysine at position 144 with asparagine (HGVS name: HBB:c.435G>C, beta 144(HC1) Lys>Asn), and it was first identified in 1973 by Zak et al. [2]. This variant is inherited in an autosomal dominant manner [2,3]. The first case in Türkiye was published by Aykut et al. [4]. Here we present the Hb Andrew-Minneapolis variant in two siblings whose parents were not alive.","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"234-235"},"PeriodicalIF":2.6,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e5/c2/TJH-40-234.PMC10476262.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10531292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Value of GCET1, HGAL (GCET2), and LMO2 in the Determination of Germinal Center Phenotype in Diffuse Large B-cell Lymphoma","authors":"Neslihan Berker,&nbsp;Gülçin Yegen,&nbsp;Yasemin Özlük,&nbsp;Öner Doğan","doi":"10.4274/tjh.galenos.2023.2023.0110","DOIUrl":"https://doi.org/10.4274/tjh.galenos.2023.2023.0110","url":null,"abstract":"<p><strong>Objective: </strong>Diffuse large B-cell lymphoma (DLBCL) is a biologically heterogeneous disease that is classified into germinal center B-cell (GCB) and non-GCB subtypes, which are prognostically different. The Hans algorithm is the most widely used tool based on CD10, BCL6, and MUM1 expression, but some cases with the non-GCB phenotype are still known to be misclassified. In this study, we investigate the extent to which GCET1, HGAL, and LMO2 protein expressions reflect GCB phenotype together with their roles in determining the GCB phenotype of DLBCL and their contributions to the performance of the Hans algorithm.</p><p><strong>Materials and methods: </strong>Sixty-five cases of DLBCL-not otherwise specified, 40 cases of follicular lymphoma (FL), and 19 non-GC-derived lymphoma cases were included in this study. The DLBCL cases were grouped as CD10⁺ (Group A) or only MUM1⁺ (Group B), and the remaining cases constituted the intermediate group (Group C). GCET1, HGAL, and LMO2 expressions were evaluated.</p><p><strong>Results: </strong>In the FL group, GCET1, HGAL, and LMO2 were positive in 85%, 77.5%, and 100% of the cases, respectively. Among the non-GC-derived lymphoma cases, all three markers were negative in cases of small lymphocytic lymphoma, plasmablastic lymphoma, peripheral T-cell lymphoma, and anaplastic large cell lymphoma. GCET1 and HGAL were negative in cases of marginal zone lymphoma (MZL) and mantle cell lymphoma (MCL). Two of the 3 MZL and 2 of the 4 MCL cases were positive for LMO2. In the DLBCL group, the number of cases with GCET1, HGAL, and LMO2 positivity was 18 (90%), 17 (85%), and 20 (100%), respectively, in Group A and 0 (0%), 2 (13.3%), and 2 (13.3%), respectively, in Group B. Considering these rates, when the cases in the intermediate group were evaluated, it was concluded that 13 cases typed as non-GCB according to the Hans algorithm may have the GCB phenotype.</p><p><strong>Conclusion: </strong>GCET1, HGAL, and LMO2 are highly sensitive markers for determining the germinal center cell phenotype and can increase the accuracy of the subclassification of DLBCL cases, especially for cases that are negative for CD10.</p>","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"162-173"},"PeriodicalIF":2.6,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/6a/38/TJH-40-162.PMC10476251.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10513005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emerging Necessity of Myeloid Mutational Analysis in Early T-cell Precursor Acute Lymphoblastic Leukemia/Lymphoma (ETP-ALL)","authors":"Hamza Tariq,&nbsp;Sindhu Shetty","doi":"10.4274/tjh.galenos.2023.2023.0139","DOIUrl":"10.4274/tjh.galenos.2023.2023.0139","url":null,"abstract":"Early T-cell precursor (ETP) acute lymphoblastic leukemia/ lymphoma (ETP-ALL) is a unique subtype of T-lymphoblastic leukemia (T-ALL) characterized by its distinct immunophenotypic profile and genetic signature. First described in 2009 as a type of T-ALL derived from thymic cells at the ETP differentiation stage [1], ETP-ALL was officially recognized as a distinct provisional entity by the 2017 World Health Organization classification [2]. The leukemic cells in ETP-ALL are committed to the T-cell lineage","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"227-229"},"PeriodicalIF":2.6,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e3/a2/TJH-40-227.PMC10476244.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10157596","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful Kidney Transplantation in <i>MYH-9</i>-Related Disease Presenting with Severe Macrothrombocytopenia","authors":"Mustafa Cem Bülbül,&nbsp;Şahin Avcı,&nbsp;Berna Yelken,&nbsp;Burak Koçak,&nbsp;Olga Meltem Akay","doi":"10.4274/tjh.galenos.2023.2023-0138","DOIUrl":"10.4274/tjh.galenos.2023.2023-0138","url":null,"abstract":"MYH-9-related diseases are a group of genetic diseases caused by mutations in the MYH-9 gene, which encodes for the non-muscle myosin heavy chain IIA (NMMHC-IIA), showing autosomal dominant inheritance. NMMHC-IIA protein is found in platelet, granulocyte, podocyte, mesangial, tubule epithelial, and cochlear cells and, when they are mutated, symptoms may occur due to loss of functions of these cells [1,2]. Although renal failure, hearing loss, and cataracts can be seen with some subtypes, macrothrombocytopenia is seen in almost all groups of MYH-9-related diseases [3]. Here, we present the case of a successful kidney transplantation for a patient who presented to our hospital with the diagnosis of immune thrombocytopenic purpura (ITP) and chronic kidney disease and was found to have MYH-9-related disease in examinations for macrothrombocytopenia.","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"232-233"},"PeriodicalIF":2.6,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/41/78/TJH-40-232.PMC10476248.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10160357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>HNRNPC-RARA</i> Fusion Gene in a Case with Acute Promyelocytic Leukemia Lacking <i>PML-RARA</i> Rearrangement Presenting with Abundant Hemophagocytosis","authors":"Jing Tan,&nbsp;Gang Zhang","doi":"10.4274/tjh.galenos.2023.2023.0207","DOIUrl":"10.4274/tjh.galenos.2023.2023.0207","url":null,"abstract":"A 41-year-old Chinese man was admitted to our hospital with pancytopenia in May 2020. A bone marrow (BM) smear showed hypercellularity with 83% hypergranular promyelocytes with azurophilic granules and Auer rods (Figure 1A). Furthermore, an increased number of macrophages with marked hemophagocytosis was seen (Figure 1B). Flow cytometry revealed blast cells positive for CD33, CD13, CD117, CD123, CD9, MPO, and weak CD56, but the results were negative for CD34, CD38, HLA-DR, and Tor B-cell markers. Coagulation screening showed low fibrinogen and elevated D-dimer. Screening results for the Epstein-Barr virus, cytomegalovirus, and Mycoplasma were negative. Although abundant hemophagocytosis was present, the levels of triglycerides, serum ferritin, NK cell activity, and soluble CD25 did not support the diagnosis of hemophagocytic syndrome. Reverse-transcription polymerase chain reaction analysis of the BM was negative for PML-RARA, NPM-RARA, NuMA-RARA, FIPIL-RARA, PLZF-RARA, PPK-RARA, and STAT5b-RARAWRE. The patient was resistant to all-trans retinoic acid and arsenic trioxide induction and he died of cerebral hemorrhage on day 79. Whole-transcriptome RNA sequencing analysis with an Illumina HiSeq X device (Kindstar Global, Chengdu, China) detected only two novel types of RARA-related fusion transcripts categorized as Homo sapiens heterogeneous nuclear ribonucleoprotein C (HNRNPC). Expected bands of approximately 300 bp (HNRNPC-RARA) and 270 bp (RARA-HNRNPC) were detected and the Sanger sequencing results also confirmed the existence of these two fusion transcriptions (Figure 2A).","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"208-209"},"PeriodicalIF":2.6,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c6/bd/TJH-40-208.PMC10476260.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10213987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Amplification of the <i>BCR::ABL1</i> Fusion Gene: A Rare Phenomenon in B-cell Acute Lymphoblastic Leukemia.","authors":"Debadrita Ray,&nbsp;Praveen Sharma,&nbsp;Arihant Jain,&nbsp;Sreejesh Sreedharanunni","doi":"10.4274/tjh.galenos.2023.2023.0212","DOIUrl":"10.4274/tjh.galenos.2023.2023.0212","url":null,"abstract":"clustered manner (Figure 1B) in 70% of the interphase nuclei, consistent with the amplification of the BCR::ABL1 fusion gene. The patient died within a month of the diagnosis. Additional Philadelphia (Ph) chromosomes are frequently seen in B-ALL and in cases of disease progression in chronic myeloid leukemia (CML). However, multiple extra copies of the BCR::ABL1 fusion gene are rare genetic occurrences in CML signifying disease progression and imatinib resistance. This results from a second Ph chromosome, double minutes, isoderivative chromosome 22, and isodicentric Ph chromosome [1,2]. Although extra copies of the BCR::ABL1 fusion gene were reported previously in T-ALL, they have never been documented in B-ALL [3]. This signal pattern highlights the need for FISH or other conventional cytogenetic approaches over reverse-transcriptase polymerase chain reaction studies to confirm disease progression.","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"204-205"},"PeriodicalIF":2.6,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/53/72/TJH-40-204.PMC10476253.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10157690","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"“Rod-Like” Cytoplasmic Crystals of Peripheral Lymphocytes in Chronic Lymphocytic Leukemia","authors":"Jihong Hao,&nbsp;Jie Gao,&nbsp;Yiping Yang,&nbsp;Ziyi An,&nbsp;Xiaoqiang Lian","doi":"10.4274/tjh.galenos.2023.2023.0051","DOIUrl":"10.4274/tjh.galenos.2023.2023.0051","url":null,"abstract":"","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"202-203"},"PeriodicalIF":2.6,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/73/fa/TJH-40-202.PMC10476252.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10160356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>JAK2</i> p.V617F Variants in Non-Blood DNA from Patients with Polycythemia Vera","authors":"Naoki Mori,&nbsp;Mari Ohwashi-Miyazaki,&nbsp;Kentaro Yoshinaga,&nbsp;Masayuki Shiseki,&nbsp;Junji Tanaka","doi":"10.4274/tjh.galenos.2023.2023-0159","DOIUrl":"10.4274/tjh.galenos.2023.2023-0159","url":null,"abstract":"The p.V617F mutation of the Janus kinase 2 ( JAK2 ) gene has been identified in 95% of patients with polycythemia vera (PV) and in half of patients with essential thrombocythemia (ET)","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"220-222"},"PeriodicalIF":2.6,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/66/56/TJH-40-220.PMC10476263.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10160358","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Acute and Persistent Remission of Aggressive Natural Killer Cell Leukemia in an Older Patient Induced by Chidamide Combined with Cyclophosphamide, Vindesine, Prednisone, and Etoposide Therapy","authors":"Qingqing Lin,&nbsp;Renzhi Pei,&nbsp;Ying Lu","doi":"10.4274/tjh.galenos.2023.2023.0227","DOIUrl":"10.4274/tjh.galenos.2023.2023.0227","url":null,"abstract":"Aggressive natural killer cell leukemia (ANKL) is a fulminant disease with a median overall survival of 2 months [1,2]. Although induction therapy with an L-asparaginase-based combined chemotherapy regimen followed by allogeneic hematologic stem cell transplantation improves clinical survival, the overall success of this approach appears rather limited [3,4]. This limitation is even more pronounced in older patients who are unable to tolerate intensive chemotherapy. Histone deacetylase inhibitors have been identified by Dufva et al. [5] as ideal drug candidates in the management of ANKL. Here we report a case of an older patient with ANKL who was treated successfully with chidamide combined with conventional chemotherapy with no significant toxicity arising.","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"225-226"},"PeriodicalIF":2.6,"publicationDate":"2023-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9f/f1/TJH-40-225.PMC10476257.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10214531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}