Case Reports In Hematology[JOURNAL]
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200 papers
Extranodal Male Genital Involvement With Diffuse Large B-Cell Lymphoma.
Fradin JJ, Feustel K, Hamadani M … +1 more , Giever TA
Case Rep Hematol · 2026 · PMID 42170666 · Full text
Primary penile diffuse large B-cell lymphoma (DLBCL) is an exceptionally rare extranodal presentation that can be challenging to diagnose due to its nonspecific symptoms. We report the case of an 84-year-old male who ini...
Primary penile diffuse large B-cell lymphoma (DLBCL) is an exceptionally rare extranodal presentation that can be challenging to diagnose due to its nonspecific symptoms. We report the case of an 84-year-old male who initially presented with phimosis who subsequently developed a nonhealing surgical wound and B symptoms. Imaging and biopsy ultimately revealed Stage IVB activated B-cell type DLBCL. He was treated with dose-reduced rituximab, cyclophosphamide, doxorubicin, prednisone, and polatuzumab vedotin (modified R-mini-CHOP). Despite his advanced disease, he achieved a partial metabolic response with negative minimal residual disease. We also summarize prior reported cases of penile DLBCL, highlighting patterns in disease presentation and treatment approaches. This case emphasizes the importance of maintaining a broad differential for penile lesions to avoid delays in diagnosis and treatment, and it illustrates the integration of novel agents such as polatuzumab vedotin for frail or elderly patients.
Diffuse Large B-Cell Lymphoma Presenting in a Background of Rosai-Dorfman Disease.
Wu C, Meyer A, Tun AM
Case Rep Hematol · 2026 · PMID 42158929 · Full text
Rosai-Dorfman disease (RDD) can present with lymphadenopathy. However, it is important to note that RDD can also coexist with hematologic malignancies, including non-Hodgkin lymphomas. We present a case of an older male...
Rosai-Dorfman disease (RDD) can present with lymphadenopathy. However, it is important to note that RDD can also coexist with hematologic malignancies, including non-Hodgkin lymphomas. We present a case of an older male patient with generalized lymphadenopathy who was first diagnosed with RDD. High-dose steroid therapy was rendered without a satisfactory response. Thus, the tissue specimens were re-examined, and the patient was found to have diffuse large B-cell lymphoma (DLBCL) in the background of RDD. The laboratory tests are notable for a slightly elevated serum lactate dehydrogenase (LDH) level. A positron emission tomography-computed tomography scan revealed generalized hypermetabolic lymphadenopathy above and below the diaphragm. A bone marrow biopsy showed normocellular marrow without evidence of DLBCL. The international prognostic index score was 3 (age > 60 years, elevated serum LDH level, and Stage III disease), indicating a high-intermediate risk disease. The patient was treated with six cycles of golcadomide in combination with R-Pola-CHP (rituximab, polatuzumab vedotin, cyclophosphamide, doxorubicin, and prednisone) for the underlying DLBCL, with resolution of both DLBCL and RDD. The disease remained in remission at the follow-up visit 9 months after completing the therapy. This case highlights the importance of recognizing underlying DLBCL in patients with RDD for optimal patient outcomes. ClinicalTrials.gov identifier: NCT04884035.
The First Reported Case of VEXAS Syndrome in Lebanon: Efficacy of Azacitidine as a Therapeutic Option-Case Report.
Issa R, Akiki B, Georgin-Lavialle S … +5 more , Kosmider O, Hammond D, Massoud M, Najjar V, Dagher E
Case Rep Hematol · 2026 · PMID 42136818 · Full text
BACKGROUND: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare, adult-onset autoinflammatory disease that has only been described since late 2020. Given the rarity of the disease and the...
BACKGROUND: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare, adult-onset autoinflammatory disease that has only been described since late 2020. Given the rarity of the disease and the absence of established treatment guidelines, management remains challenging and largely based on clinical experience and case reports. CASE PRESENTATION: This paper reports the first documented case of VEXAS syndrome in Lebanon. A 73-year-old man presented with fever, severe asthenia, erythematous skin lesions, and anemia, initially diagnosed as giant cell arteritis. Following a diagnosis of VEXAS syndrome, he was treated with corticosteroids and methotrexate but developed refractory anemia and required erythropoietin therapy. Tocilizumab was introduced to manage inflammation, but the patient's condition remained challenging due to corticosteroid dependence and myelodysplastic syndrome (MDS). Given the patient's comorbidities and intermediate-risk MDS, azacitidine was initiated as a therapeutic option. Despite initial neutropenia and infections, adjustments to the azacitidine regimen led to significant clinical and hematologic improvements. The patient achieved complete remission, became transfusion-independent, and maintained stable hemoglobin levels. CONCLUSION: This case highlights the efficacy of azacitidine in managing VEXAS syndrome with MDS, particularly among patients ineligible for hematopoietic stem cell transplantation, offering a potential pathway to sustained remission and reduced corticosteroid dependence.
A Case of Acute Myelogenous Leukemia in Long-Term Remission After Severe Infection Following Only One Course of Chemotherapy.
Shibusawa M
Case Rep Hematol · 2026 · PMID 42131783 · Full text
Acute myelogenous leukemia (AML) is characterized by the uncontrolled growth of tumor cells in the bone marrow. Standard treatment includes induction remission therapy followed by several courses of consolidation chemoth...
Acute myelogenous leukemia (AML) is characterized by the uncontrolled growth of tumor cells in the bone marrow. Standard treatment includes induction remission therapy followed by several courses of consolidation chemotherapy. The 5-year disease-free survival rate is only 39%. A 61-year-old man with AML achieved remission after standard induction therapy but experienced severe myelosuppression and a serious infection, leaving him too exhausted for further chemotherapy. Remarkably, he remained in remission for over 5 years. This case suggests that both the initial chemotherapy and the immune response triggered by severe infection may have contributed to long-term remission.
A Rare Presentation of Mixed Warm and Cold Autoimmune Hemolytic Anemia.
Anya O, Idenyi O, Chikere O … +1 more , Shatzel JJ
Case Rep Hematol · 2026 · PMID 42131782 · Full text
Mixed autoimmune hemolytic anemia (mAIHA) is a rare clinical condition where both warm and cold antibodies lead to autoimmune red cell destruction and progressive anemia. Herein, we report a rare case of combined warm an...
Mixed autoimmune hemolytic anemia (mAIHA) is a rare clinical condition where both warm and cold antibodies lead to autoimmune red cell destruction and progressive anemia. Herein, we report a rare case of combined warm and cold agglutinin-mediated autoimmune hemolytic anemia in a 61-year-old male who initially presented with incidental macrocytic anemia during a preoperative evaluation for pterygium surgery. Investigations showed the presence of both warm (IgG) and cold (IgM) autoantibodies, evidenced by a positive direct Coombs test (both anti-IgG and anti-C3), and elevated serum IgM levels. Type and cross-isolate revealed two distinct autoantibodies with different thermal amplitudes. Further workup did not reveal a definitive underlying etiology for the hemolysis. Mycoplasma pneumoniae and Epstein-Barr virus antibody panels were not suggestive of active infection. He was treated with corticosteroids and rituximab, resulting in an improvement in his hemoglobin levels, a reduction in splenomegaly, and ultimately remission of his autoimmune hemolytic anemia. This case emphasizes the need for a thorough workup to identify the cause of anemia, even in the context of seemingly unrelated surgical procedures.
Patient With MGRS/PGNMID Without Detection of a Peripheral Clone: Case Report and Literature Review.
Larrazábal A, Ávila-Rodriguez A, Sánchez M
Case Rep Hematol · 2026 · PMID 42125421 · Full text
Monoclonal gammopathy of renal significance (MGRS) is a clonal cell proliferative disorder, characterized by the production of monoclonal immunoglobulins in patients that do not meet hematological criteria for a specific...
Monoclonal gammopathy of renal significance (MGRS) is a clonal cell proliferative disorder, characterized by the production of monoclonal immunoglobulins in patients that do not meet hematological criteria for a specific malignancy. It can be present in B cell and plasma cell clonal proliferative diseases and accounts for 10% of monoclonal gammopathy of undetermined significance (MGUS) cases. We present a case of a patient presenting with acute kidney injury, hematuria, and nephrotic syndrome, who after renal biopsy was diagnosed with a proliferative glomerulonephritis with monoclonal immunoglobulin deposits (PGNMIDs), a subtype of MGRS, and treated with chemoimmunotherapy (daratumumab, cyclophosphamide, bortezomib, and dexamethasone), with complete renal function recovery.
Leukemia Cutis at Initial Diagnosis of Acute Myeloid Leukemia Consistent With Therapy-Related Disease After Lung Cancer Chemotherapy: A Case Report.
Bowen A, DiLoreto N, Bayya M … +2 more , McDonald R, Isaac D
Case Rep Hematol · 2026 · PMID 42112411 · Full text
INTRODUCTION: Leukemia cutis (LC) is characterized by dermal infiltration of leukemic blasts and typically occurs in patients with known leukemia. Rarely, LC is identified at the time of initial diagnosis of systemic dis...
INTRODUCTION: Leukemia cutis (LC) is characterized by dermal infiltration of leukemic blasts and typically occurs in patients with known leukemia. Rarely, LC is identified at the time of initial diagnosis of systemic disease, especially acute myeloid leukemia (AML). We describe a case of LC identified at the initial diagnosis of AML consistent with therapy-related disease in a patient with metastatic non-small-cell lung cancer (NSCLC) previously treated with cytotoxic chemotherapy and immunotherapy. CASE PRESENTATION: A 78-year-old woman with Stage IV NSCLC (adenocarcinoma, no actionable mutations, PD-L1 negative) initially received carboplatin, pemetrexed, and pembrolizumab, complicated by neutropenic fever. She later enrolled in the SHERLOC trial (MM-121 + docetaxel), discontinued due to colitis and neutropenia. Maintenance therapy with pembrolizumab was continued intermittently alongside stereotactic body radiation and cryoablation. After several years of disease control, follow-up PET/CT demonstrated new adrenal and iliac bone lesions concerning for progression. Shortly thereafter, she developed multiple pruritic, erythematous plaques on her extremities, accompanied by fatigue, weight loss, and cytopenias. Laboratory evaluation showed leukocytosis, macrocytic anemia, and severe thrombocytopenia, with peripheral smear revealing 72% circulating blasts. Punch biopsy confirmed LC, demonstrating dermal infiltration by myeloid blasts (CD4, CD43, CD68, and MPO positive). Flow cytometry and bone marrow biopsy established AML with > 75% myeloblasts. Next-generation sequencing identified DNMT3A, U2AF1, and PPM1D mutations. Conventional cytogenetic analysis was noninformative because no metaphase cells were obtained, AML FISH was normal, and PML-RARA FISH was negative, findings consistent with therapy-related AML. INTERVENTIONS AND OUTCOMES: The patient received hydroxyurea, transfusion support, and tumor lysis prophylaxis. Given her age, ECOG 1, adverse-risk mutations, and personal preference, she declined further chemotherapy and transitioned to hospice. CONCLUSION: LC at the time of initial AML diagnosis is uncommon and portends poor prognosis. Clinicians should remain vigilant for new skin lesions and cytopenias in cancer survivors previously exposed to chemotherapy, as early recognition of extramedullary AML may expedite timely diagnosis and care planning.
Paraneoplastic Motor Neuropathy in Nodular Sclerosis Hodgkin's Lymphoma: Case Report.
Menon J, Rehbein T, Reagan P … +1 more , Casulo C
Case Rep Hematol · 2026 · PMID 42079708 · Full text
Paraneoplastic neurological syndromes (PNS) are an uncommon complication of malignancy, characterized by autoantibody generation against neuronal structures, causing a spectrum of neurological syndromes affecting the cen...
Paraneoplastic neurological syndromes (PNS) are an uncommon complication of malignancy, characterized by autoantibody generation against neuronal structures, causing a spectrum of neurological syndromes affecting the central, peripheral, and/or autonomic nervous systems. PNS in lymphoma is exceedingly rare and there is limited evidence on the features, incidence, and severity of these neurological sequelae secondary to malignancy. Here, we report on a case of isolated diffuse motor neuropathy secondary to underlying nodular-sclerosis classical Hodgkin's lymphoma (cHL) in a 71-year-old male. This patient initially presented to the hospital with 3 months of progressive generalized weakness, weight loss, gait instability, and a rash. A broad workup revealed evidence of diffuse lymphadenopathy, which was characterized as nodular-sclerosis cHL on biopsy. Concurrent neurological workup demonstrated generalized axonal motor neuropathy on nerve conduction studies with negative serologies for a panel of paraneoplastic autoantibodies, but positive Asialo-GM1 titers, a marker of autoimmune myopathy. The patient was initiated on doxorubicin, vinblastine, and dacarbazine (AVD) for their lymphoma and received two doses of IVIg for their motor neuropathy, which did not reoccur. The patient was transitioned to brentuximab + nivolumab for 4 cycles, followed by nivolumab + AVD for 6 cycles with a complete response and no evidence of disease. Asialo-GM1-associated isolated diffuse motor neuropathy in Hodgkin's lymphoma has not been previously reported in the literature. In this case report, we review the 2021 updated diagnostic criteria for the diagnosis of paraneoplastic neurological syndromes in the context of this patient presentation to highlight an instance where these guidelines do not fully capture the wide spectrum of PNS.
Development of Colonic Polyposis in a Woman With Chronic Myeloid Leukemia Treated With Dasatinib.
Pelaez G, Yildiz BS, Candan M … +6 more , Ismail M, Vacca F, Ruzinova MB, Ballentine S, Byrnes K, Ghobadi A
Case Rep Hematol · 2026 · PMID 42028177 · Full text
INTRODUCTION: Chronic myeloid leukemia (CML) is a hematopoietic malignancy driven by constitutive tyrosine kinase activity. Dasatinib, a second-generation (2G) tyrosine kinase inhibitor (TKI), is a preferred treatment du...
INTRODUCTION: Chronic myeloid leukemia (CML) is a hematopoietic malignancy driven by constitutive tyrosine kinase activity. Dasatinib, a second-generation (2G) tyrosine kinase inhibitor (TKI), is a preferred treatment due to its superior, durable, and rapid response rates. While dasatinib has known gastrointestinal (GI) side effects, colonic polyposis is a rare complication, not well described in the literature. CASE PRESENTATION: Upon routine colonoscopy, a 66-year-old woman with chronic-phase CML was incidentally discovered to have asymptomatic colonic polyposis after 11 months of dasatinib therapy. Histopathology revealed reactive inflammatory changes without evidence of dysplasia or neoplasia. The polyposis resolved completely after cessation of dasatinib. CONCLUSION: The mechanism behind dasatinib-induced polyposis is unclear. We hypothesize a role of dasatinib's differential inhibition of multiple kinase pathways, regulatory T cells, and STAT5 signaling in the intestinal epithelium, causing an unregulated inflammatory state. This case underscores the need for awareness of this rare adverse effect and further research into its pathogenesis.
Diffuse Alveolar Hemorrhage as the Initial Manifestation of Acute Myelomonocytic Leukemia.
Varma S, Al Twal A
Case Rep Hematol · 2026 · PMID 42028176 · Full text
Diffuse alveolar hemorrhage (DAH) is a rare but life-threatening condition caused by the accumulation of red blood cells in the alveolar spaces, leading to respiratory failure. While DAH has been reported in patients wit...
Diffuse alveolar hemorrhage (DAH) is a rare but life-threatening condition caused by the accumulation of red blood cells in the alveolar spaces, leading to respiratory failure. While DAH has been reported in patients with acute myeloid leukemia (AML) following chemotherapy, its occurrence as an initial manifestation of AML is uncommon. We present the case of a 31-year-old female with no known hematologic history who presented with hemoptysis and dyspnea. Her leukocyte count was 28.2 × 10/L with 83% monocytic predominance. The patient underwent diagnostic bronchoscopy, which confirmed DAH. Bone marrow biopsy revealed AML with monocytic differentiation. Flow cytometry showed a positive inversion 16, and FLT3 mutation was negative. The patient was treated with induction chemotherapy (7 + 3 regimen: daunorubicin and cytarabine), but her condition deteriorated, and she eventually succumbed to respiratory failure. This case highlights the importance of considering hematologic malignancy in the differential diagnosis of DAH, particularly in the absence of other identifiable causes.
A Rare Case Report of Immunoglobulin D Subtype Multiple Myeloma Complicated With Hyperlipidemia.
Yang L, Zhou Z, Qu X … +4 more , Jing L, Liu J, Chen L, Ma L
Case Rep Hematol · 2026 · PMID 42004813 · Full text
Multiple myeloma is a plasma cell malignancy characterized by complex heterogeneous cytogenetic abnormalities. In most cases, patients suffering from multiple myeloma typically display normal or decreased blood lipid con...
Multiple myeloma is a plasma cell malignancy characterized by complex heterogeneous cytogenetic abnormalities. In most cases, patients suffering from multiple myeloma typically display normal or decreased blood lipid concentrations. We herein present a case of immunoglobulin (Ig) D-λ subtype multiple myeloma with concurrent hyperlipidemia. This patient presented with elevated lipid levels upon lenalidomide, bortezomib, and dexamethasone (RVD) chemotherapy with triglycerides of 4.12 mmol/L (reference range: 0.4-1.7 mmol/L), total cholesterol of 6.71 mmol/L (reference range: 3.12-5.72 mmol/L), low-density lipoprotein cholesterol of 4.29 mmol/L (reference range: 1.04-1.96 mmol/L), and lipoprotein(a) of 582 mg/L (reference range: 0-300 mg/L), which showed typical symptoms of hyperlipidemia. After chemotherapy cycles, the elevated lipid indicators were gradually decreased (or close) to normal levels without any antihyperlipidemia drug or therapy. This report analyzed a rare hyperlipidemic multiple myeloma case and may provide insights into the safety and guidance of the procedure for clinical diagnosis and treatment.
A Curious Case of HLH: A Case Report of Hemophagocytic Lymphohistiocytosis Secondary to Atezolizumab.
Sawyer M, Neela N, Pennywell A … +2 more , Kuppuswamy V, Okorodudu D
Case Rep Hematol · 2026 · PMID 41993100 · Full text
A 65-year-old man presented to the hospital with multiorgan failure in the setting of recently being started on atezolizumab for his small cell lung cancer. His main clinical findings were white blood cell count of 18.9 ...
A 65-year-old man presented to the hospital with multiorgan failure in the setting of recently being started on atezolizumab for his small cell lung cancer. His main clinical findings were white blood cell count of 18.9 K/μL (48% neutrophils, 32% lymphocytes, 15% monocytes, and 0% eosinophils), creatinine of 10.3 mg/dL (increased from a baseline of 1.5), transaminitis with AST of 1365 and ALT of 388, total bilirubin of 2.3, a lactic acid above 11 (the upper detectable limit of our analyzer), and a serum bicarbonate of 2.8. Imaging was only notable for splenomegaly. Upon presentation, he was intubated for airway protection and admitted to the intensive care unit. Over 3 days, he was treated for severe septic shock with multiple blood pressure medications, antibiotics, continuous renal replacement therapy (CRRT), and stress dose steroids. On Day 4, his CRRT machine began clotting with a yellow, lipidic film, leading us to consider HLH. His ferritin and triglycerides were largely elevated, and hemolysis labs showed destruction of cells, making HLH the leading diagnosis. He was started on high-dose steroids while the full interleukin panel was pending. The IL-2 soluble receptor came back elevated, confirming the diagnosis of HLH. Before this panel returned, he received one dose of tocilizumab with high-dose steroids before dying. This case is unique as it is the fourth documented case of secondary HLH due to the immune checkpoint inhibitor, atezolizumab. This presentation of HLH was also difficult due to the lack of fever, hepatomegaly, and cytopenias commonly seen as the presenting symptoms in HLH. Prompt initiation of treatment for HLH is critical, and due to this challenging presentation, this patient did not receive steroids and tocilizumab until Days 4 and 5, respectively.
Pernicious Anemia Resulting in Intramedullary Hemolysis, Masking Underlying Polycythemia Vera and Mild Alpha-Thalassemia-A Case Report.
Rohner A, Schnegg-Kaufmann AS, Banz Y … +1 more , Rosenstock P
Case Rep Hematol · 2026 · PMID 41993099 · Full text
BACKGROUND: Vitamin B12 deficiency can cause severe intramedullary hemolysis and cytopenias. Myeloproliferative neoplasms (MPNs), particularly polycythemia vera (PV), are typically characterized by hyperproliferation but...
BACKGROUND: Vitamin B12 deficiency can cause severe intramedullary hemolysis and cytopenias. Myeloproliferative neoplasms (MPNs), particularly polycythemia vera (PV), are typically characterized by hyperproliferation but may remain undetected when masked by concomitant deficiencies. CASE PRESENTATION: A 48-year-old woman presented with fatigue, weight loss, and pancytopenia. Laboratory tests showed severe macrocytic anemia, hemolysis, and markedly reduced vitamin B12 levels. Gastroscopy and antibody testing confirmed autoimmune atrophic gastritis with pernicious anemia. Bone marrow biopsy revealed hypercellularity, panmyelosis, and myelofibrosis (MF-2), initially interpreted as reactive. After vitamin B12 supplementation, cytopenias resolved; however, follow-up demonstrated polycythemia, leukocytosis, and thrombocytosis. Molecular analysis identified a JAK2 V617F mutation (variant allele fraction 40%), confirming PV with progression toward myelofibrosis. The patient was treated with phlebotomy, low-dose aspirin, and hydroxyurea, alongside continued vitamin B12 replacement. In addition, mild alpha-thalassemia was diagnosed in the course of an increasingly microcytic hypochromic blood count. CONCLUSION: Severe vitamin B12 deficiency may mask an underlying MPN, as well as other hematologic disorders like alpha-thalassemia. Close follow-up after hematologic recovery is essential to avoid delayed diagnosis of coexisting hematologic malignancies and disorders. This case presents a combination of complex and extremely rare hematological scenarios, where various hematological disorders exert conflicting influences on red blood cell indices, making diagnosis challenging.
Acute Myeloid Leukemia, Myelodysplasia-Related (AML-MR), With del(5q) and Double Minutes Containing Chromosomal Segment 11q24 Leading to Amplification and Expression of FLI1.
Hiya S, Tripodi J, Mascarenhas J … +2 more , Florea AD, Najfeld V
Case Rep Hematol · 2026 · PMID 41982344 · Full text
Double minutes (dmins), a form of extrachromosomal DNA (ecDNA), represent a rare cytogenomic event in myeloid neoplasms and are most commonly associated with amplification of oncogenes such as or . Dmins derived from th...
Double minutes (dmins), a form of extrachromosomal DNA (ecDNA), represent a rare cytogenomic event in myeloid neoplasms and are most commonly associated with amplification of oncogenes such as or . Dmins derived from the 11q24 region that exclude are exceedingly uncommon, and their pathogenic significance remains poorly understood. We report a 74-year-old female initially diagnosed with myelodysplastic syndrome (MDS) with isolated del(5) (q13q33) and mutations in and . After eight years and treatment with lenalidomide with excellent clinical response, she developed progressive cytopenias and transformation to acute myeloid leukemia, myelodysplasia-related (AML-MR). Cytogenomic analysis at the time of leukemic transformation revealed del(5) (q13q33) in all 20 metaphase cells analyzed and loss of the (5q31.2) gene in 94% of interphase nuclei by fluorescence in situ hybridization (FISH). Notably, 18 of 20 metaphase cells also harbored dmins, ranging from 2 to 22 copies per cell. Array-based comparative genomic hybridization and single nucleotide polymorphism array (array-CGH + SNP) identified a 5.57 Mb amplification of chromosome 11q24.2-q25 encompassing at least 40 genes, including and but excluding . Metaphase FISH confirmed localization of the amplified 11q24 segment within the dmins, and immunohistochemistry demonstrated nuclear FLI1 expression in myeloblasts. The patient was treated with combination azacitidine and venetoclax and an investigational immunotherapy within a clinical trial. This case represents the third reported instance of dmins derived from the 11q24 region involving and and the first identified in the context of AML evolved from del(5q) MDS. Dmins in myeloid neoplasms have been linked to genomic instability, clonal evolution, and therapeutic resistance. Amplification and expression of in blasts, a hematopoietic transcription factor implicated in leukemogenesis and poor prognosis in AML, suggest a potential pathogenic role for 11q24-derived dmins in disease progression. Our findings expand the spectrum of dmin-associated oncogenic amplifications in myeloid neoplasms and highlight and as recurrent targets of 11q24-derived ecDNA amplification. Recognition of such rare events underscores the importance of integrative cytogenomic profiling for uncovering novel mechanisms of leukemic transformation and potential therapeutic targets.
An Uncommon Presentation of Sweet's Syndrome in Primary Myelofibrosis.
Rago V, Brogna V, Cavalca F … +4 more , Faltoni M, Alviano AM, Gambacorti-Passerini C, Elli EM
Case Rep Hematol · 2026 · PMID 41948669 · Full text
Sweet's syndrome (SS) is a rare neutrophilic dermatosis often associated with hematologic malignancies. Due to its infectious mimicry, diagnosis is frequently delayed. We report a case of primary myelofibrosis initially...
Sweet's syndrome (SS) is a rare neutrophilic dermatosis often associated with hematologic malignancies. Due to its infectious mimicry, diagnosis is frequently delayed. We report a case of primary myelofibrosis initially treated for suspected cellulitis, which progressed to necrotic lesions and refractory fever despite broad-spectrum antibiotics. A skin biopsy confirmed neutrophilic vasculitis consistent with SS. Prompt treatment with corticosteroids followed by ruxolitinib achieved rapid resolution by suppressing the underlying cytokine storm.
Aggressive Natural Killer Cell Leukemia: A Rare and Rapidly Progressive Hematologic Malignancy-Case Report and Literature Review.
Priessnitz J, Hariri A, Levkiavska Y … +3 more , Bonner KE, Fisher SI, Sill JM
Case Rep Hematol · 2026 · PMID 41948668 · Full text
Aggressive natural killer cell leukemia (ANKL) is a rare, fulminant hematologic malignancy characterized by neoplastic proliferation of mature NK cells. It is frequently associated with Epstein-Barr virus (EBV) infection...
Aggressive natural killer cell leukemia (ANKL) is a rare, fulminant hematologic malignancy characterized by neoplastic proliferation of mature NK cells. It is frequently associated with Epstein-Barr virus (EBV) infection, although EBV-negative cases have also been reported. While typically observed in young to middle-aged adults of East Asian descent, increasing recognition has led to identification of ANKL across diverse age groups and ethnicities. The disease is defined by a rapid clinical course and poor prognosis, underscoring the importance of early diagnosis and effective treatment. We present a case of a 71-year-old Caucasian male who developed fever, altered mental status, hepatosplenomegaly, pancytopenia, and hemophagocytic lymphohistiocytosis (HLH) and who was ultimately diagnosed with ANKL. Although he demonstrated initial clinical improvement with chemotherapy, relapse of the ANKL ensued a few months later, and he ultimately succumbed to progressive disease. A review of current literature is provided, focusing on molecular pathogenesis and emerging therapeutic strategies.
Aplastic Anemia Proceeding to Thymoma: A Rare Co-Occurrence-A Case Report and Review Article.
Ghazizadeh M, Ghazizadeh M, Moini M
Case Rep Hematol · 2026 · PMID 41938022 · Full text
BACKGROUND: Malignant thymoma is a rare tumor associated with various paraneoplastic syndromes, such as myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. Aplastic anemia (AA) is an uncommon complicatio...
BACKGROUND: Malignant thymoma is a rare tumor associated with various paraneoplastic syndromes, such as myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. Aplastic anemia (AA) is an uncommon complication of thymoma that may occur during the disease or after thymoma resection. We report a case presented with AA before the thymoma. CASE: We report the case of a 34-year-old man with thymoma who developed AA before the detection of the tumor. Although pancytopenia did not improve after thymectomy, prolonged immunosuppressive therapy led to complete resolution of AA. The patient has no recurrence during a 42-month follow-up period. CONCLUSION: AA may precede the detection of thymoma and represent its initial clinical manifestation. So, thymoma should be considered a rare cause, along with other more common etiologies of AA. Patients with AA and thymoma require prolonged immunosuppressive therapy after surgery.
A Case of a Novel Perforin Gene Variant in Severe Familial Hemophagocytic Lymphohistiocytosis Type 2 (FHL2).
Yamauchi H, Hino M, Meguro K … +11 more , Nakano T, Aoki T, Yamashita Y, Okunushi T, Yamamoto T, Sato H, Yasumi T, Hirata Y, Shibata H, Nakajima H, Hamada H
Case Rep Hematol · 2026 · PMID 41809412 · Full text
INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by excessive cytokine release from activated T cells and macrophages. Primary HLH, or familial HLH (FHL), res...
INTRODUCTION: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by excessive cytokine release from activated T cells and macrophages. Primary HLH, or familial HLH (FHL), results from genetic mutations affecting cytotoxic lymphocyte function. CASE REPORT: We present a case of FHL Type 2 (FHL2) caused by compound heterozygous variants in the PRF1 gene, including one novel missense variant of p.Ala21Val (A21V). A 5-month-old boy presented with persistent fever, pancytopenia, coagulopathy, hepatosplenomegaly, and elevated ferritin, meeting the HLH-2004 diagnostic criteria. Bone marrow revealed hemophagocytosis, and NK cell activity was markedly reduced. Genetic analysis identified compound heterozygous PRF1 variants: A21V and p.Pro16Ser (P16S). Flow cytometric analysis demonstrated markedly reduced PRF1 protein expression in the patient's NK cells. The patient was treated with etoposide, dexamethasone palmitate, and cyclosporine, followed by cord blood transplantation. The patient has been in remission for over a year. DISCUSSION: The PRF1 A21V variant has not been described in the public database or the literature and is therefore considered a novel pathogenic variant for FHL2 with functional validation. Although the PRF1 P16S variant has been previously reported in the heterozygous state in an adult patient with primary HLH, our findings provide functional and clinical evidence supporting a contributory role of the P16S variant in autosomal recessive early-onset FHL2 when present in trans with the novel A21V variant. CONCLUSION: We identified a previously unreported PRF1 variant, A21V, and provided the first functional evidence of impaired perforin expression associated with A21V/P16S, highlighting the importance of functional validation of rare PRF1 variants in FHL2.
Dysplastic Megakaryocytes in a Gallbladder Neck Lymph Node in a Patient With Essential Thrombocythemia: A Case Report.
Balcı M
Case Rep Hematol · 2026 · PMID 41799793 · Full text
A woman in her 60s with a known history of JAK2-positive essential thrombocythemia presented with a one-week history of jaundice. Laboratory testing revealed elevated bilirubin and alkaline phosphatase levels. Abdominal...
A woman in her 60s with a known history of JAK2-positive essential thrombocythemia presented with a one-week history of jaundice. Laboratory testing revealed elevated bilirubin and alkaline phosphatase levels. Abdominal ultrasonography identified a 1-cm gallstone, and laparoscopic cholecystectomy was performed. Histopathological evaluation revealed chronic cholecystitis along with a 5-mm lymph node in the gallbladder neck harboring atypical megakaryocytes with multinucleation and nuclear lobulation. Immunohistochemistry confirmed megakaryocytic origin with strong positivity for CD61 and supportive positivity for Factor VIII, while epithelial and lymphoid markers were negative, ruling out metastatic carcinoma or lymphoma. This case underscores the rare involvement of lymph nodes by dysplastic megakaryocytes in essential thrombocythemia and highlights the importance of considering hematologic malignancies in the differential diagnosis of lymphadenopathy.
Spontaneous Metabolic Regression in High-Burden Follicular Lymphoma: A Case Report.
Bronstein Y, Vitkon R, Hayman L … +1 more , Perry C
Case Rep Hematol · 2026 · PMID 41799792 · Full text
Follicular lymphoma (FL) is an indolent but incurable B-cell malignancy, typically requiring therapy in patients with high tumor burden. Although spontaneous regression has been described, its frequency and durability ar...
Follicular lymphoma (FL) is an indolent but incurable B-cell malignancy, typically requiring therapy in patients with high tumor burden. Although spontaneous regression has been described, its frequency and durability are uncertain and require longitudinal follow-up. We report a 64-year-old man with high-burden FL fulfilling GELF criteria who deferred treatment and subsequently demonstrated a marked spontaneous metabolic response on a follow-up [F]FDG PET/CT over a 6-month follow-up period. The metabolic response encompassed nodal, splenic, and serosal involvement, accompanied by resolution of symptoms and improvement in laboratory parameters. This case highlights the biological heterogeneity of FL and emphasizes the importance of individualized management and ongoing surveillance.
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