Klein CR, Jansen F, Brossart P
… +2 more, Herling M, Feldmann G
Case Rep Hematol
· 2024 · PMID 39228413
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T-prolymphocytic leukaemia (T-PLL) is the most common mature T-cell leukaemia in Central Europe and is often manifested by rapidly increasing lymphocytosis, marked bone marrow infiltration and splenomegaly. In 10-15% of...T-prolymphocytic leukaemia (T-PLL) is the most common mature T-cell leukaemia in Central Europe and is often manifested by rapidly increasing lymphocytosis, marked bone marrow infiltration and splenomegaly. In 10-15% of cases, the diagnosis is made by incidental findings in otherwise asymptomatic patients. Here we report a case of T-PLL that initially became symptomatic due to the presence of acute coronary syndrome (ACS). Initially, emergency coronary angiography with consecutive emergency 5-coronary artery bypass grafting (CABG) was performed. Leukocytosis was found perioperatively and T-PLL (with TCL1 rearrangement) was subsequently diagnosed. Despite known potential cardiotoxicity, the patient was treated with the anti-CD52 antibody alemtuzumab with a gradual dose increase from 3 mg to 30 mg per day. Systemic alemtuzumab therapy resulted in the complete remission of T-PLL in the bone marrow without any impairment to cardiac function. The patient was then eligible to undergo a consolidating allogeneic stem cell transplant (alloSCT). The reported case shows that T-PLL can also become initially symptomatic through an acute coronary syndrome on the basis of complex coronary heart disease. Targeted antileukaemic therapy with the monoclonal antibody alemzutumab can lead to effective systemic cytoreduction without cardiac dysfunction even in patients with severe cardiac disease, although cases of cardiotoxicity have been reported.
Mennens SFBJ, Van der Spek E, Ruinemans-Koerts J
… +1 more, Van Borren MMGJ
Case Rep Hematol
· 2024 · PMID 39189035
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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...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.
Jean J, Sukhanova M, Dittmann D
… +2 more, Gao J, Jennings LJ
Case Rep Hematol
· 2024 · PMID 39183762
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Chronic myeloid leukemia (CML) is associated with several breakpoint regions that result in different fusion transcripts. These include the major breakpoint region (M-BCR), minor breakpoint region (m-BCR), and mu breakp...Chronic myeloid leukemia (CML) is associated with several breakpoint regions that result in different 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 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 fusion transcripts.
Case Rep Hematol
· 2024 · PMID 39104431
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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...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.
Agrawal A, Lamichhane P, Baral R
… +1 more, Thapaliya S
Case Rep Hematol
· 2024 · PMID 39104430
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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 re...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.
Tlaiss Y, Farhat H, Hasan F
… +3 more, Yazbek R, Shakaroun N, Bitar N
Case Rep Hematol
· 2024 · PMID 39104429
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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 wi...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.
Aykut S, Demir SC, Evruke IC
… +5 more, Sucu M, Uzay FI, Avan M, Bayer OK, Yalcin E
Case Rep Hematol
· 2024 · PMID 39081540
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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...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.
Shold J, Jukic L, Farrell D
… +2 more, Cui W, Zhang D
Case Rep Hematol
· 2024 · PMID 39055348
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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 recogniz...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 and 5 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.
Kaiafa G, Daios S, Bountola S
… +7 more, Koletsa T, Makris M, Chatzikosma C, Loukousia A, Perifanis V, Ziakas A, Savopoulos C
Case Rep Hematol
· 2024 · PMID 39015771
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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 litera...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.
Case Rep Hematol
· 2024 · PMID 39015770
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INTRODUCTION: 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 li...INTRODUCTION: 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. . 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. CONCLUSIONS: 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.
Glass J, Weston J, Lewanda AF
… +1 more, Majumdar S
Case Rep Hematol
· 2024 · PMID 38988374
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We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a intronic variant in (NM_000988.3:c.-2-1G > A p.?) previ...We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a intronic variant in (NM_000988.3:c.-2-1G > A p.?) previously reported in one individual with DBA. The existing literature suggests the 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 -associated DBA and highlights the importance of reclassifying this gene to likely pathogenic.
Stabel C, Woei-A-Jin FJSH, Tousseyn T
… +1 more, Garmyn M
Case Rep Hematol
· 2024 · PMID 38983901
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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 disorder...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.
Case Rep Hematol
· 2024 · PMID 38938450
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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 chy...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.
Song A, Li JY, Cockey SG
… +2 more, Shao R, Zhang H
Case Rep Hematol
· 2024 · PMID 38938449
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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 infect...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.
Sun Q, Chen W, Wang A
… +3 more, Yang Z, Chen G, Zhu Z
Case Rep Hematol
· 2024 · PMID 38737168
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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...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.
Diallo AB, Ndiaye M, Seck M
… +5 more, Keita M, Bousso ES, Touré SA, Faye BF, Diop S
Case Rep Hematol
· 2024 · PMID 38689712
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Rosai-Dorfman disease (RDD) is a benign histiocytic proliferation that results in nodal and extranodal involvements. It is a rare disease, with fewer than 1,000 cases reported in the literature, which explains its lack o...Rosai-Dorfman disease (RDD) is a benign histiocytic proliferation that results in nodal and extranodal involvements. It is a rare disease, with fewer than 1,000 cases reported in the literature, which explains its lack of knowledge by physicians and the lack of codified therapeutic strategies. We report the case of an 8-year-old girl who presented a rapidly progressive cervical lymph node mass; the diagnosis of RDD was made based on histology and immunohistochemistry. The patient was treated with oral corticosteroids at a dose of 1 mg/kg/d with a favorable outcome and no recurrence after one year of follow-up. This observation illustrates the clinical presentation and diagnosis of this rare clinicopathological entity. The prognosis and treatment options are also discussed.
Case Rep Hematol
· 2024 · PMID 38596354
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Hemophagocytic lymphohistiocytosis (HLH) is a rare and often fatal syndrome of immune hyperactivation, cytokine dysregulation, and severe inflammation. This severe syndrome is commonly triggered by infection, malignancy,...Hemophagocytic lymphohistiocytosis (HLH) is a rare and often fatal syndrome of immune hyperactivation, cytokine dysregulation, and severe inflammation. This severe syndrome is commonly triggered by infection, malignancy, autoimmunity, or immunosuppression. We present herein the case of a 56-year-old-female diagnosed with HLH triggered by an acute cytomegalovirus (CMV) infection with viremia in the context of immunosuppression for inflammatory bowel disease. This case highlights the importance of utilizing multiple diagnostic tools, prompt initiation of anti-hemophagocytic treatment, and management of the underlying etiology, to prevent significant morbidity and mortality.
Case Rep Hematol
· 2024 · PMID 38550770
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Evidence suggests that the earliest genetic events in the evolution of a cancer can predate diagnosis by several years or decades. In chronic myeloid leukemia (CML), the BCR::ABL1 fusion driver mutation can be present fo...Evidence suggests that the earliest genetic events in the evolution of a cancer can predate diagnosis by several years or decades. In chronic myeloid leukemia (CML), the BCR::ABL1 fusion driver mutation can be present for an extended period before clinical disease manifests. The time between the BCR::ABL1 occurrence and symptom onset is referred to as the latency period. Though modeling studies predict this latency period is no more than ten years, it is still unclear how long it can be. We present a case of a patient referred for suspected CML. Both karyotype and FISH analysis identified the (9;22)(34;11.2) translocation resulting in the Philadelphia chromosome formation in 98.5% of cells analyzed. The patient responded to imatinib and achieved a sustained complete hematologic and cytogenetic remission. Clinical history revealed that the same patient presented eight years previously with anemia. Various non-neoplastic conditions were excluded, and a bone marrow biopsy was performed to rule out MDS. Cytogenetic analysis at that time revealed del(20) as the sole abnormality in all 20 cells analyzed. No treatment was given since the presence of isolated del(20) is not considered evidence of MDS in the absence of diagnostic morphologic criteria. Retrospective FISH analysis of archived bone marrow pellets from this previous specimen revealed the presence of BCR::ABL1 in 1.8% of cells. A clonal population of cells harboring the BCR::ABL1 fusion was unambiguously detected in this patient's archived bone marrow pellet obtained eight years before the current CML diagnosis. This case demonstrates that Carnoy's fixed nuclear pellets stored in cytogenetic laboratories are suitable for detecting driver mutations years before disease presentation. Such archived material may be useful for the retrospective studies needed to better understand the initiation and subsequent development of hematological malignancies. By identifying individuals who are at increased risk, it may be possible to initiate preventive measures or begin treatment at an earlier stage before disease progression.
Yetiskul E, Kimyaghalam A, Khan S
… +3 more, Grabie Y, Rizvi TA, Khan S
Case Rep Hematol
· 2024 · PMID 38496264
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BACKGROUND: 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-g...BACKGROUND: 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. . 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. CONCLUSION: 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.
Case Rep Hematol
· 2024 · PMID 38469371
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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 a...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 who was unsuccessfully treated with immunosuppressive therapy followed by alloHSTC.