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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
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
{"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}
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
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
{"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}
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
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
{"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}
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
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
{"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}
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
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
{"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}
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
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
{"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}
引用次数: 1
Fungal Infections and Myeloma: Supports 真菌感染和骨髓瘤：支持
IF 2.6 4区 医学
Turkish Journal of Hematology Pub Date : 2023-08-31 Epub Date: 2023-07-12 DOI: 10.4274/tjh.galenos.2023.2023-0255
İrfan Yavaşoğlu
{"title":"Fungal Infections and Myeloma: Supports","authors":"İrfan Yavaşoğlu","doi":"10.4274/tjh.galenos.2023.2023-0255","DOIUrl":"10.4274/tjh.galenos.2023.2023-0255","url":null,"abstract":"a","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"206-207"},"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/a2/18/TJH-40-206.PMC10476259.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10159322","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
Level of Awareness of Acquired Hemophilia A Among Physicians in Türkiye: A Survey Study 日本医生对获得性血友病A的认知水平调查研究
IF 2.6 4区 医学
Turkish Journal of Hematology Pub Date : 2023-08-31 DOI: 10.4274/tjh.galenos.2023.2023.0236
Ahmet Muzaffer Demir, Muhlis Cem Ar, Fahri Şahin, Merve Altunbaş
{"title":"Level of Awareness of Acquired Hemophilia A Among Physicians in Türkiye: A Survey Study","authors":"Ahmet Muzaffer Demir,&nbsp;Muhlis Cem Ar,&nbsp;Fahri Şahin,&nbsp;Merve Altunbaş","doi":"10.4274/tjh.galenos.2023.2023.0236","DOIUrl":"https://doi.org/10.4274/tjh.galenos.2023.2023.0236","url":null,"abstract":"<p><p>This survey study aimed to evaluate the level of awareness and knowledge of acquired hemophilia A (AHA) among physicians from various specialties. Data were collected by administering a questionnaire containing questions about two patient profiles to evaluate the approaches of physicians from different specialties. The study included a total of 945 physicians. The most common suspected diagnosis for the clinical patient profile was immune thrombocytopenia, followed by hemophilia. For the laboratory patient profile, the most common suspected diagnosis was hemophilia. While only 9.4% of the physicians stated that they had good knowledge of this disease, only 21.6% wanted to learn more about AHA. Most of the participating physicians do not rank AHA first in the differential diagnosis of a patient with clinical and laboratory findings of AHA. Appropriate educational activities to raise awareness of AHA will help reduce disease-related morbidity and mortality.</p>","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"197-201"},"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/1d/e1/TJH-40-197.PMC10476256.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10157691","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
Hemophagocytic Lymphohistiocytosis in RUNX1::RUNX1T1 Positive AML with Blast Count Below 20% RUNX1:：RUNX1T1阳性AML的吞噬血淋巴组织细胞增多症，冲击波计数低于20%
IF 2.6 4区 医学
Turkish Journal of Hematology Pub Date : 2023-08-31 Epub Date: 2023-07-31 DOI: 10.4274/tjh.galenos.2023.2023.0155
Xingqin Huang, Fang Long, Yun Zhang, Xiaopeng Gao, Ting Li
{"title":"Hemophagocytic Lymphohistiocytosis in <i>RUNX1::RUNX1T1</i> Positive AML with Blast Count Below 20%","authors":"Xingqin Huang,&nbsp;Fang Long,&nbsp;Yun Zhang,&nbsp;Xiaopeng Gao,&nbsp;Ting Li","doi":"10.4274/tjh.galenos.2023.2023.0155","DOIUrl":"10.4274/tjh.galenos.2023.2023.0155","url":null,"abstract":"","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"210-212"},"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/27/34/TJH-40-210.PMC10476245.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10513011","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
Autoinflammation and Myelofibrosis: Report of a Case 自身炎症与骨髓纤维化1例报告
IF 2.6 4区 医学
Turkish Journal of Hematology Pub Date : 2023-08-31 Epub Date: 2023-07-31 DOI: 10.4274/tjh.galenos.2023.2023.0064
Prasad R. Koduri, Amina Shaik, Durga Rao Vegulada
{"title":"Autoinflammation and Myelofibrosis: Report of a Case","authors":"Prasad R. Koduri,&nbsp;Amina Shaik,&nbsp;Durga Rao Vegulada","doi":"10.4274/tjh.galenos.2023.2023.0064","DOIUrl":"10.4274/tjh.galenos.2023.2023.0064","url":null,"abstract":"Adult-onset Still’s disease (AOSD) is a rare systemic autoinflammatory disease of unknown etiology [1,2]. We describe the case of a young woman with AOSD who presented with extreme anemia and was diagnosed with secondary myelofibrosis. Treatment with prednisolone resulted in durable complete clinical and hematological response. She remains in excellent health, with normal blood counts over the course of 4 years of follow-up.","PeriodicalId":23362,"journal":{"name":"Turkish Journal of Hematology","volume":"40 3","pages":"223-224"},"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/9d/d8/TJH-40-223.PMC10476249.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10513009","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
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