Turkish Journal of Hematology最新文献

英文中文

Aleukemic Variant of Mast Cell Leukemia with del (7)(q31): Rare Case Report of an Elderly Chinese Man 肥大细胞白血病突变型伴del (7)(q31):一例中国老年男性罕见病例报告

4区医学 Q3 HEMATOLOGY

Turkish Journal of Hematology

Pub Date : 2023-09-01 DOI: 10.4274/tjh.galenos.2023.2022-0456

Xiaoying Song, Yiping Yang, Zhanlong Wang, Jihong Hao

引用次数: 0

Hb Andrew-Minneapolis Variant in a Turkish Family 土耳其家庭中的Hb Andrew Minneapolis变体

IF 2.6 4区医学 Q3 HEMATOLOGY

Turkish Journal of Hematology

Pub Date : 2023-08-31 Epub Date: 2023-07-31 DOI: 10.4274/tjh.galenos.2023.2023-0239

Hamza Sümter, Soycan Mızrak, Serdar Ceylaner, Duran Canatan

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.

引用次数: 0

Value of GCET1, HGAL (GCET2), and LMO2 in the Determination of Germinal Center Phenotype in Diffuse Large B-cell Lymphoma GCET1、HGAL (GCET2)和LMO2在弥漫性大b细胞淋巴瘤生发中心表型测定中的价值

IF 2.6 4区医学 Q3 HEMATOLOGY

Turkish Journal of Hematology

Pub Date : 2023-08-31 DOI: 10.4274/tjh.galenos.2023.2023.0110

Neslihan Berker, Gülçin Yegen, Yasemin Özlük, Öner Doğan

Objective: 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.

Materials and methods: 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.

Results: 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.

Conclusion: 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.

目的:弥漫性大b细胞淋巴瘤(DLBCL)是一种生物学异质性疾病，分为生发中心b细胞(GCB)亚型和非GCB亚型，预后不同。Hans算法是基于CD10、BCL6和MUM1表达的最广泛使用的工具，但一些非gcb表型的病例仍然被错误分类。在本研究中，我们研究了GCET1、HGAL和LMO2蛋白表达在多大程度上反映了GCB表型，以及它们在确定DLBCL的GCB表型中的作用，以及它们对Hans算法性能的贡献。材料与方法:本研究纳入65例dlbcl(未注明)、40例滤泡性淋巴瘤(FL)和19例非gc源性淋巴瘤。将DLBCL病例分为CD10+组(A组)或仅MUM1+组(B组)，其余病例为中间组(C组)。检测GCET1、HGAL、LMO2的表达。结果:FL组GCET1、HGAL、LMO2阳性率分别为85%、77.5%、100%。在非gc源性淋巴瘤病例中，在小淋巴细胞淋巴瘤、浆母细胞淋巴瘤、外周t细胞淋巴瘤和间变性大细胞淋巴瘤中，这三种标志物均为阴性。边缘带淋巴瘤(MZL)和套细胞淋巴瘤(MCL)患者GCET1和HGAL均为阴性。3例MZL中2例，4例MCL中2例LMO2阳性。在DLBCL组中，A组GCET1、HGAL和LMO2阳性例数分别为18例(90%)、17例(85%)和20例(100%)，b组分别为0例(0%)、2例(13.3%)和2例(13.3%)。考虑到这些比率，当对中间组的病例进行评估时，根据Hans算法分型为非GCB的13例患者可能具有GCB表型。结论:GCET1、HGAL和LMO2是判断生发中心细胞表型的高敏感性标志物，可提高DLBCL病例亚分类的准确性，特别是CD10阴性的病例。

{"title":"Value of GCET1, HGAL (GCET2), and LMO2 in the Determination of Germinal Center Phenotype in Diffuse Large B-cell Lymphoma","authors":"Neslihan Berker, Gülçin Yegen, Yasemin Özlük, Öner Doğan","doi":"10.4274/tjh.galenos.2023.2023.0110","DOIUrl":"https://doi.org/10.4274/tjh.galenos.2023.2023.0110","url":null,"abstract":"Objective: 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.Materials and methods: 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.Results: 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.Conclusion: 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.","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}

引用次数: 0

Emerging Necessity of Myeloid Mutational Analysis in Early T-cell Precursor Acute Lymphoblastic Leukemia/Lymphoma (ETP-ALL) 早期T细胞前体急性淋巴细胞白血病/淋巴瘤（ETP-ALL）骨髓突变分析的必要性

IF 2.6 4区医学 Q3 HEMATOLOGY

Turkish Journal of Hematology

Pub Date : 2023-08-31 Epub Date: 2023-07-10 DOI: 10.4274/tjh.galenos.2023.2023.0139

Hamza Tariq, Sindhu Shetty

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

引用次数: 0

Successful Kidney Transplantation in MYH-9-Related Disease Presenting with Severe Macrothrombocytopenia MYH-9相关疾病并发严重大血小板减少症的肾移植成功

IF 2.6 4区医学 Q3 HEMATOLOGY

Turkish Journal of Hematology

Pub Date : 2023-08-31 Epub Date: 2023-06-06 DOI: 10.4274/tjh.galenos.2023.2023-0138

Mustafa Cem Bülbül, Şahin Avcı, Berna Yelken, Burak Koçak, Olga Meltem Akay

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.

引用次数: 0

HNRNPC-RARA Fusion Gene in a Case with Acute Promyelocytic Leukemia Lacking PML-RARA Rearrangement Presenting with Abundant Hemophagocytosis HNRNPC-RARA融合基因在缺乏PML-RARA重排的急性早幼粒细胞白血病中的表达

IF 2.6 4区医学 Q3 HEMATOLOGY

Turkish Journal of Hematology

Pub Date : 2023-08-31 Epub Date: 2023-06-14 DOI: 10.4274/tjh.galenos.2023.2023.0207

Jing Tan, Gang Zhang

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).

{"title":"HNRNPC-RARA Fusion Gene in a Case with Acute Promyelocytic Leukemia Lacking PML-RARA Rearrangement Presenting with Abundant Hemophagocytosis","authors":"Jing Tan, 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}

引用次数: 0

Amplification of the BCR::ABL1 Fusion Gene: A Rare Phenomenon in B-cell Acute Lymphoblastic Leukemia. BCR:ABL1融合基因扩增：B细胞急性淋巴细胞白血病中的罕见现象。

IF 2.6 4区医学 Q3 HEMATOLOGY

Turkish Journal of Hematology

Pub Date : 2023-08-31 DOI: 10.4274/tjh.galenos.2023.2023.0212

Debadrita Ray, Praveen Sharma, Arihant Jain, Sreejesh Sreedharanunni

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.

引用次数: 0

“Rod-Like” Cytoplasmic Crystals of Peripheral Lymphocytes in Chronic Lymphocytic Leukemia 慢性淋巴细胞白血病外周血淋巴细胞的“杆状”细胞质晶体

IF 2.6 4区医学 Q3 HEMATOLOGY

Turkish Journal of Hematology

Pub Date : 2023-08-31 Epub Date: 2023-06-06 DOI: 10.4274/tjh.galenos.2023.2023.0051

Jihong Hao, Jie Gao, Yiping Yang, Ziyi An, Xiaoqiang Lian

引用次数: 0

JAK2 p.V617F Variants in Non-Blood DNA from Patients with Polycythemia Vera 维拉红细胞增多症患者非血液DNA中的JAK2 p.V617F变体

IF 2.6 4区医学 Q3 HEMATOLOGY

Turkish Journal of Hematology

Pub Date : 2023-08-31 Epub Date: 2023-06-06 DOI: 10.4274/tjh.galenos.2023.2023-0159

Naoki Mori, Mari Ohwashi-Miyazaki, Kentaro Yoshinaga, Masayuki Shiseki, Junji Tanaka

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)

引用次数: 0

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 Chidamide联合环磷酰胺、Vindesine、泼尼松和依托泊苷治疗老年人侵袭性自然杀伤细胞白血病的急性和持续缓解

IF 2.6 4区医学 Q3 HEMATOLOGY

Turkish Journal of Hematology

Pub Date : 2023-08-31 Epub Date: 2023-07-19 DOI: 10.4274/tjh.galenos.2023.2023.0227

Qingqing Lin, Renzhi Pei, Ying Lu

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.

引用次数: 1

首页上一页

类型

全部化学•材料生命科学医学物理工程技术环境•农林材料科学地球科学法学管理学化学环境科学与生态学计算机科学教育学经济学农林科学人文科学生物学数学物理与天体物理心理学综合性期刊其他工业工程理学历史学农学文学信息工程

数据库

全部 ACS Publications Elsevier ieeexplore Springer The Royal Society of Chemistry Wiley

期刊

Turkish Journal of Hematology

全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.

﹀