Svenja F B J Mennens, Ellen Van der Spek, Janneke Ruinemans-Koerts, Marcel M G J Van Borren
{"title":"Hematologists/Physicians Need to Be Aware of Pseudohypercalcemia in Monoclonal Gammopathy: Lessons from a Case Report.","authors":"Svenja F B J Mennens, Ellen Van der Spek, Janneke Ruinemans-Koerts, Marcel M G J Van Borren","doi":"10.1155/2024/8844335","DOIUrl":"10.1155/2024/8844335","url":null,"abstract":"<p><p>We present a patient at risk of misdiagnosis with multiple myeloma due to pseudohypercalcemia. Examinations showed monoclonal protein, 50% monoclonal plasma cells in bone marrow, and hypercalcemia but no osteolytic bone lesions. Follow-up tests revealed pseudohypercalcemia, with elevated total calcium, but normal ionized calcium: a discrepancy due to calcium binding to monoclonal paraprotein (confirmed by laboratory experiments). Accordingly, the patient was diagnosed with smouldering myeloma. After 900 days, the presence of bone lesions prompted the start of treatment for myeloma. Consequently, monoclonal paraprotein levels declined and pseudohypercalcemia dissolved. Hence, ionized calcium should be measured in monoclonal gammopathies to avoid misdiagnosis.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"8844335"},"PeriodicalIF":0.7,"publicationDate":"2024-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11347025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074192","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}
J Jean, M Sukhanova, D Dittmann, J Gao, L J Jennings
{"title":"A Novel <i>BCR::ABL1</i> Variant Detected with Multiple Testing Modalities.","authors":"J Jean, M Sukhanova, D Dittmann, J Gao, L J Jennings","doi":"10.1155/2024/8486267","DOIUrl":"10.1155/2024/8486267","url":null,"abstract":"<p><p>Chronic myeloid leukemia (CML) is associated with several breakpoint regions that result in different <i>BCR::ABL1</i> fusion transcripts. These include the major breakpoint region (M-BCR), minor breakpoint region (m-BCR), and mu breakpoint region (u-BCR) corresponding to p210, p190, and p230 fusion transcripts, respectively. This patient is a 38-year-old female with a new diagnosis of CML in chronic phase. A novel p210 fusion transcript splice variant was detected with qualitative reverse transcription PCR and capillary electrophoresis. Subsequent FISH study was performed, which revealed 86.5% positive for the <i>BCR::ABL1</i> fusion. Quantitative real-time polymerase chain reaction (PCR) showed a negative result for the p210 fusion transcript. The variant was further characterized by Sanger sequencing. This variant is in-frame and predicted to be functional. This case illustrates the need for a combination of different testing techniques to fully characterize the rare <i>BCR::ABL1</i> fusion transcripts.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"8486267"},"PeriodicalIF":0.7,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11343632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142056881","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":"Acute Leukaemia following Dengue Infection in Nepalese Patients: A Report of Two Cases.","authors":"Anushka Agrawal, Pratik Lamichhane, Rituraj Baral, Sabin Thapaliya","doi":"10.1155/2024/8747138","DOIUrl":"10.1155/2024/8747138","url":null,"abstract":"<p><p>Dengue is a mosquito-borne, acute febrile illness caused by dengue viruses. The association between hematological malignancies and dengue infection is obscure, and the literature on this occurrence is also limited. We report two cases of acute leukaemia following dengue infection in a recent outbreak in Nepal. Our case reports suggest a possible association of acute leukaemia with dengue infection. The relationship should be explored further with observational studies.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"8747138"},"PeriodicalIF":0.7,"publicationDate":"2024-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11298969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894582","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":"Complex Presentation of Multicentric Castleman Disease with Coexisting HIV, HHV-8, and Other Opportunistic Infections.","authors":"Yehya Tlaiss, Hadi Farhat, Firas Hasan, Rami Yazbek, Noura Shakaroun, Nizar Bitar","doi":"10.1155/2024/8817064","DOIUrl":"10.1155/2024/8817064","url":null,"abstract":"<p><p>Castleman disease (CD) is a rare lymphoproliferative disorder characterized by benign lymph node enlargement. We present the case of a 43-year-old male with a complex medical history, including Crohn's disease treated with Adalimumab and later complicated with tuberculosis (TB) infection. Subsequently, in May 2021, he was diagnosed with human immunodeficiency virus (HIV) and started on antiretroviral therapy (efavirez, emricitabine, and tenofovir). Despite stropping adalimumab, anti-Tb, and antiviral therapy, he experienced persistent fever, neurological symptoms, and lymphadenopathy. Toxoplasmosis, Cytomegalovirus (CMV), and Human Herpesvirus-8 (HHV-8) were diagnosed and then treated. Furthermore, the patient displayed intermittent febrile episodes, pancytopenia, altered coagulation parameters, hypoalbuminemia, edema, and generalized abdominal pain, as well as radiological evidence of hepatosplenomegaly and pulmonary infiltrates. Left axillary lymph node biopsy (ALNB) was done and confirmed multicentric castleman disease (MCD). Moreover, the bone marrow aspirate showed plasmocytes. His treatment included chemotherapy with doxorubicin and rituximab while continuing his anti-Tb and antiretroviral therapy. This complex case highlights the diagnostic challenges of managing CD in the presence of multiple coexisting conditions, emphasizing the need for comprehensive evaluation in complex clinical presentations.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"8817064"},"PeriodicalIF":0.7,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11300082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141895185","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":"T-PLL Presenting with an Indolent Course.","authors":"Arsa Thammahong, Narittee Sukswai, Chantana Polprasert","doi":"10.1155/2024/7310135","DOIUrl":"10.1155/2024/7310135","url":null,"abstract":"<p><p>T-cell prolymphocytic leukemia (T-PLL) is a rare, mature T-cell leukemia which usually presents with aggressive behavior. We report an asymptomatic T-PLL patient diagnosed by clinical features, lymphocyte morphology, and flow cytometry. Incidentally, she was found to have lymphocytosis and lymphadenopathy. Flow cytometry from blood revealed an abnormally increased CD4+ T-cell population. T-cell receptor clonality assessment by next-generation sequencing revealed a dominant clone in the ß-chain constant region. No pathogenic mutations in 25 lymphoma-related genes were found. Due to her asymptomatic T-PLL disease, we observed her clinical situation and blood count every three months for at least one year.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"7310135"},"PeriodicalIF":0.7,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11300063/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141895186","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}
Serdar Aykut, Suleyman Cansun Demir, Ismaıl Cuneyt Evruke, Mete Sucu, Fatma Islek Uzay, Mesut Avan, Ozge Keles Bayer, Emre Yalcin
{"title":"Approach to Pregnancy Affected by Kell Alloimmunization.","authors":"Serdar Aykut, Suleyman Cansun Demir, Ismaıl Cuneyt Evruke, Mete Sucu, Fatma Islek Uzay, Mesut Avan, Ozge Keles Bayer, Emre Yalcin","doi":"10.1155/2024/1929147","DOIUrl":"10.1155/2024/1929147","url":null,"abstract":"<p><p>Hemolytic disease of the fetus and newborn (HDFN) is the development of anemia, hyperbilirubinemia, and finally hydrops fetalis in the fetus when antibodies to antigens on the surface of erythrocytes are transferred from the placenta to the fetus. The most common cause is D-HDFN. K (KEL1) from the Kell blood group system is the most potent immunogenic antigen after D among all blood group antigens. K-HDFN occurs in 0.1-0.3% of pregnant women. It accounts for 10% of cases of antibody-mediated severe fetal anemia. We present a successful management of Kell alloimmunization in a pregnant woman who had 3 times pregnancy loss with hydrops fetalis due to K-HDFN and who was proven to have K-HDFN in the postnatal period in her last pregnancy.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"1929147"},"PeriodicalIF":0.7,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11288690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141856813","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}
Janna Shold, Lea Jukic, Daniel Farrell, Wei Cui, Da Zhang
{"title":"EBV Positive Diffuse Large B Cell Lymphoma with Negative Pan-B Cell Markers, Case Report, and Literature Review.","authors":"Janna Shold, Lea Jukic, Daniel Farrell, Wei Cui, Da Zhang","doi":"10.1155/2024/4803071","DOIUrl":"10.1155/2024/4803071","url":null,"abstract":"<p><p>Most B cell lymphomas are positive for one or more B cell markers including CD19, CD20, CD79a, or PAX5. However, rare cases of mature B cell lymphoma not expressing any B cell markers have been characterized and recognized as distinct diagnostic entities by current classification guidelines, including plasmablastic lymphoma, primary effusion lymphoma, and ALK-positive large B cell lymphoma. We present a case of pan-B cell marker negative, EBV positive diffuse large B cell lymphoma that is positive for OCT2, BOB1, and clonal immunoglobulin gene rearrangement that does not meet diagnostic criteria for any B cell lymphoma by current 4<sup>th</sup> and 5<sup>th</sup> Ed beta version WHO Hematolymphoid Tumors classification. In challenging cases like the one presented, utilizing OCT2 and BOB1 immunohistochemical stains can assist in determining B cell lineage. The WHO tumor classification system should consider adding OCT2 and BOB1 as alternative B cell lineage markers into their corresponding categories.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"4803071"},"PeriodicalIF":0.7,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11272396/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141761610","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":"Pericarditis and Cardiac Tamponade in Patients Treated with First and Second Generation Bruton Tyrosine Kinase Inhibitors: An Underappreciated Risk.","authors":"Thomas Erblich, Charlotte Manisty, John Gribben","doi":"10.1155/2024/2312182","DOIUrl":"10.1155/2024/2312182","url":null,"abstract":"<p><strong>Introduction: </strong>The introduction of Bruton's tyrosine kinase (BTK) inhibitors significantly improved the management of chronic lymphocytic leukemia (CLL). However, BTK carry the risk of cardiotoxicity, which is not only limited to atrial fibrillation. <i>Case Reports</i>. We report three cases of patients on BTK inhibitors who developed acute pericarditis and cardiac tamponade. We report the first patient who developed this complication on treatment with zanubrutinib. This patient's treatment was changed to zanubrutinib due to atrial fibrillation. Shortly after cardioversion, he developed cardiac tamponade and shock. He underwent pericardiocentesis, received treatment for acute pericarditis with steroids and colchicine, and made a full recovery. We also report two further cases, both involving patients treated with ibrutinib. These patients also developed acute pericarditis and cardiac tamponade and required pericardiocentesis. All three patients discontinued BTK therapy following the events.</p><p><strong>Conclusions: </strong>These three cases highlight the rare but potentially life-threatening risk of cardiac tamponade which can occur even with newer generations of BTK inhibitors. Haemato-oncologists should remain vigilant in patients who report dyspnea or who show sinus tachycardia on routine electrocardiography. Even in the absence of classical clinical signs of tamponade, patients require urgent evaluation with echocardiography and potentially emergency pericardiocentesis.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"2312182"},"PeriodicalIF":0.7,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11251797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141628066","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":"Hodgkin Lymphoma Presenting as Cardiac Tamponade in a Young Female.","authors":"Georgia Kaiafa, Stylianos Daios, Stavroula Bountola, Triantafyllia Koletsa, Michail Makris, Charikleia Chatzikosma, Antonia Loukousia, Vasileios Perifanis, Antonios Ziakas, Christos Savopoulos","doi":"10.1155/2024/5597263","DOIUrl":"10.1155/2024/5597263","url":null,"abstract":"<p><p>Hodgkin lymphoma (HL) is an uncommon malignancy that is characterized by Hodgkin or Reed-Sternberg cells. Cardiac implications of HL remain one of the least investigated subjects. There are few case reports in the literature of cardiac tamponade in HL patients. We describe a case of a 21-year-old female patient who presented with cardiac tamponade as an initial presentation of HL. Any pericardial effusion significant for tamponade requires immediate drainage and fluid analysis for thorough investigation. Prompt identification and timely intervention are crucial in effectively addressing these complex situations. Therefore, clinicians should maintain heightened awareness in such cases.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":"2024 ","pages":"5597263"},"PeriodicalIF":0.7,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11250532/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141628065","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}
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}