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De Novo Variant in the RPL27 Gene in a Second Infant with Diamond-Blackfan Anemia. 第二例菱形黑方贫血症婴儿的 RPL27 基因新变异。
IF 0.7
Case Reports in Hematology Pub Date : 2024-07-03 eCollection Date: 2024-01-01 DOI: 10.1155/2024/6626388
Joshua Glass, Julia Weston, Amy Feldman Lewanda, Suvankar Majumdar
{"title":"<i>De Novo</i> Variant in the <i>RPL27</i> Gene in a Second Infant with Diamond-Blackfan Anemia.","authors":"Joshua Glass, Julia Weston, Amy Feldman Lewanda, Suvankar Majumdar","doi":"10.1155/2024/6626388","DOIUrl":"10.1155/2024/6626388","url":null,"abstract":"<p><p>We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a <i>de novo</i> intronic variant in <i>RPL27</i> (NM_000988.3:c.-2-1G > A p.?) previously reported in one individual with DBA. The existing literature suggests the <i>RPL27</i> gene encodes for a ribosomal protein involved in pre-rRNA processing and erythropoiesis. Further research is needed to assess the functional significance of this variant and its implications for genetic testing and therapeutic strategies. This case expands the clinical spectrum of <i>RPL27</i>-associated DBA and highlights the importance of reclassifying this gene to likely pathogenic.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"6626388"},"PeriodicalIF":0.7,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11236463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141581210","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}
引用次数: 0
Sulfasalazine-Induced Epstein-Barr Virus-Positive Mucocutaneous Ulcer. 磺胺氯吡嗪诱发 Epstein-Barr 病毒阳性皮肤黏膜溃疡
IF 0.7
Case Reports in Hematology Pub Date : 2024-07-02 eCollection Date: 2024-01-01 DOI: 10.1155/2024/6883657
Cedric Stabel, F J Sherida H Woei-A-Jin, Thomas Tousseyn, Maria Garmyn
{"title":"Sulfasalazine-Induced Epstein-Barr Virus-Positive Mucocutaneous Ulcer.","authors":"Cedric Stabel, F J Sherida H Woei-A-Jin, Thomas Tousseyn, Maria Garmyn","doi":"10.1155/2024/6883657","DOIUrl":"10.1155/2024/6883657","url":null,"abstract":"<p><p>Epstein-Barr virus (EBV) may cause a wide spectrum of symptomatology in humans ranging from asymptomatic upper respiratory tract infection to infectious mononucleosis and in more severe cases lymphoproliferative disorders or hemophagocytic lymphohistiocytosis. Its neoplastic potential is higher in immunocompromised individuals. We describe a case of EBV-positive mucocutaneous ulcer, a more indolent clinical entity on the spectrum of EBV-driven lymphoproliferative disorders, and are one of the first to put sulfasalazine, an immunomodulatory agent, forward as the possible culprit.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"6883657"},"PeriodicalIF":0.7,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11233183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141564806","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}
引用次数: 0
Chylothorax as Initial Presentation of Follicular Lymphoma: A Case Report and Literature Search. 乳糜胸是滤泡性淋巴瘤的最初表现：病例报告与文献检索
IF 0.7
Case Reports in Hematology Pub Date : 2024-06-06 eCollection Date: 2024-01-01 DOI: 10.1155/2024/7985228
Gi Eun Kim, Yousif Khaled, Saleh Mahmoud, Amin Ur Rehman
{"title":"Chylothorax as Initial Presentation of Follicular Lymphoma: A Case Report and Literature Search.","authors":"Gi Eun Kim, Yousif Khaled, Saleh Mahmoud, Amin Ur Rehman","doi":"10.1155/2024/7985228","DOIUrl":"10.1155/2024/7985228","url":null,"abstract":"<p><p>Chylothorax is accumulation of chyle in pleural space. Causes include traumatic, such as after esophagectomy, and nontraumatic, most commonly malignancy. Lymphoma usually presents as asymptomatic lymphadenopathy, and chylothorax tends to occur late in disease course. Chylothorax as initial presentation of lymphoma is rare with only case reports. We present a case of 43-year-old female who presented with dyspnea only with no B symptoms and found to have left-sided chylothorax, and was later diagnosed to have stage IV follicular lymphoma. This case highlights an atypical presentation of follicular lymphoma, to help physicians to reach diagnosis earlier in similar cases.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"7985228"},"PeriodicalIF":0.7,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11208796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471499","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}
引用次数: 0
EBV-Positive Pleomorphic Variant Transformation of CD5-Negative Mantle Cell Lymphoma: A Rare Case Report and Literature Review. CD5 阴性套细胞淋巴瘤的 EBV 阳性多形变异转化：罕见病例报告和文献综述。
IF 0.7
Case Reports in Hematology Pub Date : 2024-06-05 eCollection Date: 2024-01-01 DOI: 10.1155/2024/3267739
Amy Song, Julie Y Li, Samuel G Cockey, Richard Shao, Hailing Zhang
{"title":"EBV-Positive Pleomorphic Variant Transformation of CD5-Negative Mantle Cell Lymphoma: A Rare Case Report and Literature Review.","authors":"Amy Song, Julie Y Li, Samuel G Cockey, Richard Shao, Hailing Zhang","doi":"10.1155/2024/3267739","DOIUrl":"10.1155/2024/3267739","url":null,"abstract":"<p><p>Mantle cell lymphoma (MCL) is a mature B-cell lymphoma associated with cyclin D family rearrangements and typically expresses CD5 and cyclin D1. Epstein-Barr virus- (EBV-) positive MCL is rare, and the role of EBV infection and its transformation in MCL remains unclear. We present a case of CD5-negative classic MCL that progressed to an EBV + pleomorphic MCL six years after the initial diagnosis. Molecular studies confirmed the same clonal origin. To the best of our knowledge, the EBV-positive transformation of CD5-negative MCL into a pleomorphic variant has rarely been reported, and its recognition is important for the diagnosis and the management of patients with MCL.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"3267739"},"PeriodicalIF":0.7,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11208810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141471500","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}
引用次数: 0
Treatment of a Patient with Acute Promyelocytic Leukemia with Multiple Isolated Relapses in the Central Nervous System: A Case Report and Mini-Review of the Literature. 治疗中枢神经系统多次孤立复发的急性早幼粒细胞白血病患者：病例报告和文献综述。
IF 0.7
Case Reports in Hematology Pub Date : 2024-05-03 eCollection Date: 2024-01-01 DOI: 10.1155/2024/5593775
Qixin Sun, Wenyi Chen, Ahui Wang, Zili Yang, Guiping Chen, Zhigang Zhu
{"title":"Treatment of a Patient with Acute Promyelocytic Leukemia with Multiple Isolated Relapses in the Central Nervous System: A Case Report and Mini-Review of the Literature.","authors":"Qixin Sun, Wenyi Chen, Ahui Wang, Zili Yang, Guiping Chen, Zhigang Zhu","doi":"10.1155/2024/5593775","DOIUrl":"10.1155/2024/5593775","url":null,"abstract":"<p><p>The efficacy of therapeutics for acute promyelocytic leukemia (APL) has exhibited an increase in recent years. Only a few patients experience relapse, including extramedullary relapse, and in patients with extramedullary relapse, the central nervous system (CNS) is the most common site. To date, there is no expert consensus or clinical guidelines available for CNS relapse, at least to the best of our knowledge. The optimal therapeutic strategy and management options for these patients remain unclear. The present study reports the treatment of a patient with APL with multiple isolated relapses in the CNS. In addition, through a mini-review of the literature, the present study provides a summary of various reports of this disease and discusses possible treatment options for these patients.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"5593775"},"PeriodicalIF":0.7,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11087148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140912956","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}
引用次数: 0
Case of Circulating Tumor Cells Discovered in Extensive Deep Venous Thrombosis in a Patient with Known Urothelial Carcinoma. 已知患有尿路上皮癌的患者在广泛性深静脉血栓中发现循环肿瘤细胞的病例。
IF 0.7
Case Reports in Hematology Pub Date : 2024-03-09 eCollection Date: 2024-01-01 DOI: 10.1155/2024/6144020
Ekrem Yetiskul, Ali Kimyaghalam, Shahkar Khan, Yisroel Grabie, Taqi A Rizvi, Salman Khan
{"title":"Case of Circulating Tumor Cells Discovered in Extensive Deep Venous Thrombosis in a Patient with Known Urothelial Carcinoma.","authors":"Ekrem Yetiskul, Ali Kimyaghalam, Shahkar Khan, Yisroel Grabie, Taqi A Rizvi, Salman Khan","doi":"10.1155/2024/6144020","DOIUrl":"10.1155/2024/6144020","url":null,"abstract":"<p><strong>Background: </strong>Currently, minimal data are available to explore the composition of venous thromboembolism in patients with cancer. This case report discusses a presentation of venous thromboembolism in a patient with high-grade urothelial carcinoma and highlights the pathology findings in thrombi. <i>Case Presentation</i>. A 55-year-old female who was diagnosed with high-grade urothelial carcinoma with multiple metastases developed an extensive deep vein thrombosis in her left lower extremity. Endovascular revascularization was indicated due to left lower extremity pain and swelling not responsive to anticoagulation. A mechanical thrombectomy was performed, and samples were sent for pathology. Pathologic examination discovered minute fragments of metastatic carcinoma, admixed with laminated blood clots (thrombus). The morphology of metastatic carcinoma and the immunostain profile were compatible with metastatic carcinoma of bladder origin.</p><p><strong>Conclusion: </strong>Cancer is a well-known risk factor for developing VTEs, and it is estimated that approximately 4-20% of cancer patients will experience VTE at some stage, the rate being the highest in the initial period following diagnosis. Annually, 0.5% of cancer patients will experience thrombosis compared with a 0.1% incidence rate in the general population (Elyamany et al., 2014). Despite knowing the increased incidence of VTEs in cancer patients, there are few studies to date that analyze the composition of thrombi in patients with cancer.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"6144020"},"PeriodicalIF":0.7,"publicationDate":"2024-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10944343/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144279","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}
引用次数: 0
A Case of Successful Allogeneic Hematopoietic Stem Cell Transplantation in a Severely Underweight Patient with Aplastic Anemia. 一例体重严重过轻的再生障碍性贫血患者成功接受异基因造血干细胞移植的病例。
IF 0.7
Case Reports in Hematology Pub Date : 2024-03-04 eCollection Date: 2024-01-01 DOI: 10.1155/2024/2044820
Lilija Banceviča, Andrius Žučenka
{"title":"A Case of Successful Allogeneic Hematopoietic Stem Cell Transplantation in a Severely Underweight Patient with Aplastic Anemia.","authors":"Lilija Banceviča, Andrius Žučenka","doi":"10.1155/2024/2044820","DOIUrl":"10.1155/2024/2044820","url":null,"abstract":"<p><p>Allogeneic hematopoietic stem cell transplantation (alloHSTC) is considered definitive and the most effective treatment for young patients diagnosed with severe aplastic anemia. Low body mass index (BMI) is known to be associated with poorer outcomes in stem cell transplantation and higher mortality risks. Malnutrition negatively affects the patient's ability to mobilize stem cells, therefore reducing patients' stem cell production, although the patient's nutritional status improvement with enteral and parenteral nutrition may reduce the risks of stem cell graft failure and graft-vs-host disease (GVHD) occurrence. The present report demonstrates a severely underweight patient with aplastic anemia and a BMI of 11 kg/m<sup>2</sup> who was unsuccessfully treated with immunosuppressive therapy followed by alloHSTC.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"2044820"},"PeriodicalIF":0.7,"publicationDate":"2024-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10927337/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140102612","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}
引用次数: 0
Enhancing Efficacy and Quality of Life in Patients with Herpes Zoster Infection in Hairy Cell Leukemia. 提高毛细胞白血病带状疱疹感染患者的疗效和生活质量
IF 0.7
Case Reports in Hematology Pub Date : 2024-02-26 eCollection Date: 2024-01-01 DOI: 10.1155/2024/1575161
Xiaowei Feng, Yuchen Tao, Qi Hu, Yuanxia Liu, Jizhang Bao, Wenwen Jiang
{"title":"Enhancing Efficacy and Quality of Life in Patients with Herpes Zoster Infection in Hairy Cell Leukemia.","authors":"Xiaowei Feng, Yuchen Tao, Qi Hu, Yuanxia Liu, Jizhang Bao, Wenwen Jiang","doi":"10.1155/2024/1575161","DOIUrl":"10.1155/2024/1575161","url":null,"abstract":"<p><p>Hairy cell leukemia (HCL) is an infrequent and persistent B-cell inert lymphoid leukemia. In this study, we present the case of a 71-year-old female patient with a previous diagnosis of variant HCL who experienced a severe herpes zoster infection leading to an extensive skin eruption. The patient's initial diagnosis of HCL occurred 7 years ago, and she underwent treatment with cladribine, interferon, COP (cyclophosphamide, vincristine, and prednisone), benztropine tablets + clarithromycin dispersible, and ibrutinib. Immune disorders resulting from repeated prior chemotherapy and targeted therapy may potentially precipitate herpes zoster infection. Despite an initial two-week period of unresponsiveness to antivirals and nerve nutrition treatments, the introduction of topical Coptis liquid to the treatment regimen yielded significant efficacy. This case report underscores the potential of Chinese medicine as an adjunct to conventional antiviral therapy in the management of herpes zoster infection in immunocompromised patients. This treatment protocol has the potential to enhance efficacy, enhance quality of life, and serve as a more robust foundation for clinical diagnosis and improved treatments.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"1575161"},"PeriodicalIF":0.7,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10911873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140029262","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}
引用次数: 0
A + AVD for Treatment of Hodgkin Lymphoma Variant of Richter's Transformation. A + AVD 用于治疗里希特变异霍奇金淋巴瘤。
IF 0.7
Case Reports in Hematology Pub Date : 2024-02-24 eCollection Date: 2024-01-01 DOI: 10.1155/2024/7612622
Benjamin Heyman, Michael Choi, Thomas J Kipps
{"title":"A + AVD for Treatment of Hodgkin Lymphoma Variant of Richter's Transformation.","authors":"Benjamin Heyman, Michael Choi, Thomas J Kipps","doi":"10.1155/2024/7612622","DOIUrl":"10.1155/2024/7612622","url":null,"abstract":"<p><p>Hodgkin lymphoma variant of Richter's transformation (HvRT) is a rare complication for patients with chronic lymphocytic leukemia (CLL), with an overall poor prognosis. We present the first known case series of patients with HvRT treated with the combination of brentuximab vedotin, doxorubicin, vinblastine, and dacarbazine (A + AVD). In our series of 4 patients, two patients treated with A + AVD for HvRT had durable remissions of 40 and 42 months, while two patients had disease progression and ultimately died. Continued investigation into the optimal management for patients with HvRT is still needed.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"7612622"},"PeriodicalIF":0.7,"publicationDate":"2024-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10908572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140022945","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}
引用次数: 0
Isolated Central Nervous System Involvement after Brentuximab Vedotin Treatment for HIV-Positive ALK-Negative Anaplastic Large Cell Lymphoma. Brentuximab Vedotin治疗HIV阳性ALK阴性无细胞大细胞淋巴瘤后的孤立性中枢神经系统受累。
IF 0.7
Case Reports in Hematology Pub Date : 2024-02-22 eCollection Date: 2024-01-01 DOI: 10.1155/2024/5534556
Takuya Suyama, Kumiko Matsui, Kosuke Makihara, Masatoshi Tsuru
{"title":"Isolated Central Nervous System Involvement after Brentuximab Vedotin Treatment for HIV-Positive ALK-Negative Anaplastic Large Cell Lymphoma.","authors":"Takuya Suyama, Kumiko Matsui, Kosuke Makihara, Masatoshi Tsuru","doi":"10.1155/2024/5534556","DOIUrl":"10.1155/2024/5534556","url":null,"abstract":"<p><p>Human immunodeficiency virus (HIV)-associated lymphoma poses a high mortality risk despite antiretroviral therapy (ART). Although intermediate- or high-grade B-cell lymphomas are common, anaplastic large-cell lymphomas (ALCLs) are rare and seldom affect the central nervous system (CNS). Herein, we present a case of HIV-associated ALCL with isolated CNS involvement that occurred following the discontinuation of ART that was administered after treatment with brentuximab vedotin (BV)-which does not cross the blood-brain barrier. At the time of CNS recurrence, the patient's CD4 count was 9 cells/mm<sup>3</sup>. This is the first report of CNS recurrence in HIV-associated ALCL. Considering the high risk of CNS relapse, we suggest initiating CNS prophylaxis in cases of HIV-associated ALCL, particularly in patients receiving CNS-impermeable agents such as BV.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"5534556"},"PeriodicalIF":0.7,"publicationDate":"2024-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10904676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140022946","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}
引用次数: 0
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