Case Reports in Hematology最新文献

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.

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.

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.

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^th and 5^th 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.

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. Case Reports. 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.

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.

We describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a de novo intronic variant in RPL27 (NM_000988.3:c.-2-1G > A p.?) previously reported in one individual with DBA. The existing literature suggests the RPL27 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 RPL27-associated DBA and highlights the importance of reclassifying this gene to likely pathogenic.

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.

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.

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.