Case Reports In Hematology[JOURNAL]
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200 papers
Treatment of Relapsed/Refractory t(11;14) Multiple Myeloma and High-Risk Myelodysplastic Syndrome With Venetoclax.
Taylor AO, Clune S, Liu J … +2 more , Gasparetto C, LeBlanc TW
Case Rep Hematol · 2025 · PMID 41439211 · Full text
Patients with multiple myeloma (MM) have an inherent risk for secondary myeloid malignancies. Innovative approaches to treatment are needed when these hematologic malignancies co-occur. Venetoclax (VEN), a BCL2 inhibitor...
Patients with multiple myeloma (MM) have an inherent risk for secondary myeloid malignancies. Innovative approaches to treatment are needed when these hematologic malignancies co-occur. Venetoclax (VEN), a BCL2 inhibitor, has been used in combination with Azacitidine in acute myeloid leukemia, in the trial setting in high-risk myelodysplastic syndrome (MDS), and in t(11; 14) MM in the salvage setting. Here, we present a case report of concurrent treatment of high-risk MDS and t(11; 14) MM in a patient, using VEN-based therapy. Following diagnosis with IgG t(11; 14) MM, the patient received treatment with Lenalidomide, Bortezomib, and Dexamethasone and achieved a very good partial response. She subsequently proceeded to autologous stem cell transplant and thereafter continued on Lenalidomide maintenance. Relapsed disease was noted 3 years following transplant, with a concurrent diagnosis of a high-risk MDS (mutations in NRAS and DNMT3A). Given the known efficacy of VEN in her concomitant malignancies, we elected to use a VEN-based regimen, at a lower dose of VEN than has been shown to be efficacious in t(11; 14) MM. Bone marrow biopsy demonstrated response from the perspective of both malignancies, until she had relapsed disease with a mixed phenotype acute leukemia ∼ 19 months after relapsed MM/diagnosis of high-risk MDS. Overall, this case demonstrates successful treatment of both hematologic malignancies at a lower dose of VEN than previously shown to be efficacious in t(11; 14) MM.
Chronic Recurrent Multifocal Osteomyelitis-Like Paraneoplastic Syndrome as Initial Presentation of Nodular Sclerosis Classical Hodgkin Lymphoma.
Attieh M, Taha SR, Nasser S … +1 more , Boulos F
Case Rep Hematol · 2025 · PMID 41439210 · Full text
Hodgkin lymphoma (HL) presenting with initial skeletal symptoms as a paraneoplastic phenomenon is extremely rare. Herein, we report the case of a 26-year-old man with nodular sclerosis classical HL (NSCHL) who presented...
Hodgkin lymphoma (HL) presenting with initial skeletal symptoms as a paraneoplastic phenomenon is extremely rare. Herein, we report the case of a 26-year-old man with nodular sclerosis classical HL (NSCHL) who presented with low back pain as the initial symptom. Imaging studies were unremarkable except for right S1-S2 sacral marrow edema on MRI, and multiple biopsies showed only inflammatory changes, resulting in a tentative diagnosis of chronic recurrent multifocal osteomyelitis. Later in the course of the disease, after performing routine series of MRIs, lymphadenopathy was finally detected. Core biopsies of the axillary and pelvic lymph nodes subsequently confirmed the diagnosis of HL. Complete resolution of bone lesions was observed following lymphoma treatment. This case highlights the diagnostic challenges of HL, particularly when it presents with rare skeletal paraneoplastic manifestations.
Targeting GPRC5D With CAR-T Cells in Relapse/Refractory Multiple Myeloma: Case Report and Literature Review.
Yan S, Ming X, Wu J … +3 more , Peng D, Zhou M, Xiao Y
Case Rep Hematol · 2025 · PMID 41439209 · Full text
Multiple myeloma (MM) is the second most common hematologic malignancy, and patients with relapsed/refractory MM (RRMM) face limited treatment options and a poor prognosis. Recently, CAR-T cell therapy targeting G-protei...
Multiple myeloma (MM) is the second most common hematologic malignancy, and patients with relapsed/refractory MM (RRMM) face limited treatment options and a poor prognosis. Recently, CAR-T cell therapy targeting G-protein-coupled receptor, class C group 5 member D (GPRC5D) has shown promising efficacy and safety in preclinical studies, offering new hope for patients with RRMM. We report the successful treatment of a 48-year-old female patient with relapsed/refractory nonsecretory MM. The patient had high-risk factors, including 1q21 amplification and TP53 deletion, and had relapsed after seven lines of therapy, including autologous hematopoietic stem cell transplantation, proteasome inhibitors, immunomodulatory agents, PD-1 inhibitors, and CD38 monoclonal antibodies. She also developed extramedullary disease. Eventually, she received CAR-T cell therapy targeting GPRC5D, which led to the complete disappearance of extramedullary lesions and a sustained complete remission lasting up to 17 months. In conclusion, CAR-T cell therapy targeting GPRC5D is highly effective and well-tolerated in patients with RRMM, especially those with high-risk factors. Further studies with larger cohorts and longer follow-up periods are needed to validate the clinical application of GPRC5D-targeted CAR-T cell therapy in RRMM, particularly for patients who have failed BCMA-targeted therapies.
Central Nervous System Progression in Folliculotropic Mycosis Fungoides.
Foo CY, Sanjeevi A, Singh H
Case Rep Hematol · 2025 · PMID 41439208 · Full text
BACKGROUND: Central nervous system (CNS) involvement by cutaneous T-cell lymphomas (CTCL) is exceptionally rare and is associated with a poor prognosis. Folliculotropic mycosis fungoides (FMF) is a rare subtype of CTCL a...
BACKGROUND: Central nervous system (CNS) involvement by cutaneous T-cell lymphomas (CTCL) is exceptionally rare and is associated with a poor prognosis. Folliculotropic mycosis fungoides (FMF) is a rare subtype of CTCL and often has more aggressive clinical behavior compared to classic MF. The risk factors for CNS progression in patients with primary CTCL are not well understood. CASE SUMMARY: We present the case of a 75-year-old male with a history of Stage IA FMF, who developed progressive neurologic and functional decline over six months. Workup revealed marked eosinophilia, and CSF analysis showed monoclonal T-cell population with positive T-cell receptor (TCR) gene rearrangement. Flow cytometry further showed an atypical CD4+ T-cell population with loss of CD7, consistent with the immunophenotype of patient's cutaneous MF, supporting secondary CNS involvement. An MRI of the brain showed T2 hyperintensity in the pons and right middle cerebellar peduncle, with low signal intensity throughout the bone marrow of the skull, concerning for CNS progression of FMF. The patient was started on high-dose steroids, which led to improvement in eosinophilia. Due to transaminitis, high-dose methotrexate therapy was deferred, and the patient was initiated on intrathecal (IT) chemotherapy with methotrexate and cytarabine. Following five cycles of IT chemotherapy, the patient's neurologic status significantly improved, and CSF analysis showed resolution of the atypical T-cell population. CONCLUSION: This case highlights the rare occurrence of CNS progression of FMF, even in the absence of lymphatic involvement and with well-controlled skin manifestations, and underscores the role of IT chemotherapy in managing this complication.
Idiopathic Multicentric Castleman Disease With Severe Eosinophilia and Diffuse Centrilobular Nodule-A Rare Case Report.
Li X, Li S, Zhao T … +4 more , Xu B, Du X, Song X, Wang Y
Case Rep Hematol · 2025 · PMID 41439207 · Full text
RATIONALE: Idiopathic multicentric Castleman disease (iMCD), also known as angiofollicular lymph node hyperplasia, is a rare inflammatory lymphoproliferative disease with diverse clinical presentations. We report a rare...
RATIONALE: Idiopathic multicentric Castleman disease (iMCD), also known as angiofollicular lymph node hyperplasia, is a rare inflammatory lymphoproliferative disease with diverse clinical presentations. We report a rare case of iMCD accompanied by severe eosinophilia and diffuse centrilobular pulmonary nodules, which have rarely been previously documented in the literature. PATIENTS’ CONCERNS: A 69-year-old man presented with intermittent fever, dry cough, and shortness of breath. Laboratory examination revealed severe eosinophilia. Chest computed tomography (CT) revealed bilateral pulmonary interstitial nodules and enlarged lymph nodes in the right axilla and mediastinum. DIAGNOSIS: Axillary lymph node biopsy revealed partial atrophy of lymphoid follicles with hyaline vessel insertion and partial hyperplasia. The hyperplastic mantle zones were composed of concentric rings of small lymphoid cells. Additionally, numerous plasma cells and eosinophils were observed infiltrating between the follicles. The patient was ultimately diagnosed with iMCD with eosinophilia. Other potential causes of eosinophilia, including infections, malignancies, and other inflammatory conditions, were excluded. INTERVENTION: The patient declined cytotoxic chemotherapy and was treated with oral methylprednisolone (40 mg/day), which was gradually tapered to 10 mg/day. OUTCOMES: The patient's symptoms, including fever, cough, and dyspnea, improved markedly. The eosinophil count returned to normal, and inflammatory cytokine levels (IL-1β, IL-8, IL-6, and TNF-α) decreased significantly. LESSONS: This case highlights a rare presentation of iMCD with eosinophilia and pulmonary involvement, emphasizing the importance of early recognition and timely corticosteroid therapy. Our report adds to the limited data on iMCD with eosinophilia and may help inform future clinical management.
Recurrent Intracerebral Hemorrhage in a 30-Year-Old Male With Factor XIII Deficiency: A Case Report.
Sadiq F, Nawaz S, Gohar A … +6 more , Saleemi F, Khan ARS, Ali M, Ahmad MH, Zahid H, Nasir I
Case Rep Hematol · 2025 · PMID 41439206 · Full text
Spontaneous, nontraumatic intracerebral hemorrhage (ICH) in young adults with bleeding diathesis, particularly Factor XIII (FXIII) deficiency, is a rare yet life-threatening condition that affects approximately one-third...
Spontaneous, nontraumatic intracerebral hemorrhage (ICH) in young adults with bleeding diathesis, particularly Factor XIII (FXIII) deficiency, is a rare yet life-threatening condition that affects approximately one-third of patients. FXIII deficiency typically presents at birth with prolonged umbilical bleeding and can manifest later with recurrent episodes of prolonged bleeding, epistaxis, and bleeding from minor injuries. Diagnosing FXIII deficiency is challenging due to a normal coagulation profile, requiring a detailed clinical history and specialized diagnostic tests for FXIII levels. We report a case of a young male with recurrent spontaneous ICH, frequent epistaxis, and prolonged bleeding from minor trauma. The patient was managed conservatively with fresh frozen plasma (FFP) transfusions and supportive care. Prophylactic FFP infusions were initiated every 2 months to prevent further bleeding episodes, accompanied by regular follow-up. The patient made a full recovery and is now leading a healthy life without excessive bleeding, demonstrating the importance of early diagnosis and ongoing treatment. This case highlights the need for clinicians to consider FXIII deficiency in patients with unexplained bleeding, particularly when routine coagulation tests are normal, and underscores the value of timely intervention to prevent severe complications like ICH.
Aggressive Sternum Extension in Diffuse Large B-Cell Lymphoma: Barriers to Timely Care in a Resource-Limited Setting.
Morales-Pedraza A, Guzmán-Martínez Z, Tejada-Vásquez AC … +4 more , Vaquera-Alfaro HA, Haces-Rodríguez SE, Ordoñez-Ayala AG, Colunga-Pedraza PR
Case Rep Hematol · 2025 · PMID 41394789 · Full text
Non-Hodgkin lymphoma englobes a diverse group of malignant disorders. Although most commonly manifested as lymphadenopathies or solid tumors, some lymphomas can exhibit highly aggressive behavior, such as diffuse large B...
Non-Hodgkin lymphoma englobes a diverse group of malignant disorders. Although most commonly manifested as lymphadenopathies or solid tumors, some lymphomas can exhibit highly aggressive behavior, such as diffuse large B-cell lymphoma (DLBCL). This report highlights the case of a 72-year-old male from a resource-limited setting who delayed seeking medical care for two years, relying on alternative medicine for a destructive sternal mass. In low- and middle-income countries (LMICs), healthcare-seeking decisions are influenced by factors such as poor dimension of symptoms, cultural beliefs, limited access to health care, and reliance on traditional, conventional, and alternative treatment. This case highlights challenges in LMICs in cancer care and the urgent need to address these barriers. This case proposes that efforts should focus on reducing patient intervals and improving cancer outcomes in LMICs.
Solitary Hepatic Plasmacytoma With IgM Monoclonal Gammopathy: A Case Report.
Poppe B, Farooqui A, Lin Y
Case Rep Hematol · 2025 · PMID 41346800 · Full text
Solitary extramedullary plasmacytoma (SEP) is a rare plasma cell neoplasm that typically arises in the upper aerodigestive tract but may occur in other organs, including the liver. IgM-secreting SEPs are exceedingly rare...
Solitary extramedullary plasmacytoma (SEP) is a rare plasma cell neoplasm that typically arises in the upper aerodigestive tract but may occur in other organs, including the liver. IgM-secreting SEPs are exceedingly rare and can be challenging to differentiate from other lymphomas with similar presentations. We report a case of a 73-year-old female who presented with fatigue and cytopenias, later found to have a large hepatic mass. Biopsy revealed a kappa-restricted plasma cell neoplasm with strong CD138, BCL2, CD20, and PAX5 expression and absence of MYD88 L265P mutation via immunohistochemistry. No bone marrow involvement or lymphadenopathy was detected. Although MYD88 was negative, the working diagnosis was initially made as isolated Waldenstrom macroglobulinemia (WM), and the patient was treated as such. Local radiotherapy was contraindicated due to elevated risk with a history of cirrhosis. The patient demonstrated excellent clinical and radiographic response to zanubrutinib therapy by way of improvement in IgM and the size of the liver mass. After reconsideration of the diagnosis, especially in the setting of MYD88 negativity and CD138 positivity, the case seemed to represent an IgM-secreting solitary hepatic plasmacytoma rather than WM. Management did not change when the diagnosis of plasmacytoma was more highly represented due to the radiotherapeutic contraindication and excellent improvement with zanubrutinib. To our knowledge, this represents one of the few documented cases of IgM-secreting solitary hepatic plasmacytoma. This case highlights diagnostic challenges, the importance of immunophenotypic profiling, and the need for individualized management strategies in this rare entity.
Blinatumomab-Related Lineage Switch of KMT2A/AFF1-Rearranged B-Lymphoblastic Leukemia to B/Myeloid Mixed-Phenotype Acute Leukemia and Myeloid Sarcoma Causing Spinal Cord Compression.
Fan X, Gupta A, Dabrowski D … +3 more , Rusella M, Zhai QJ, Wei EX
Case Rep Hematol · 2025 · PMID 41333696 · Full text
Blinatumomab is a promising monoclonal antibody therapeutic for the treatment of relapsed or refractory B-cell precursor acute lymphoblastic leukemia (B-ALL). However, it has been associated with lineage switch in acute...
Blinatumomab is a promising monoclonal antibody therapeutic for the treatment of relapsed or refractory B-cell precursor acute lymphoblastic leukemia (B-ALL). However, it has been associated with lineage switch in acute leukemia, particularly in cases of KMT2A-rearranged B-ALL, which carries a poor prognosis. While most lineage switch events present as acute myeloid leukemia (AML), rare cases may manifest as myeloid sarcoma. In the current report, we describe the development of myeloid sarcoma following blinatumomab treatment in a patient with refractory KMT2A-rearranged B-ALL. The patient, a 19-year-old African American male with primary Philadelphia chromosome-negative B-ALL, was initially treated with a pediatric-inspired chemotherapy regimen. He achieved pathologically morphologic remission after induction, but his minimal residual disease (MRD) testing remained persistently positive, eventually progressing to bone marrow relapse. The patient was then started on blinatumomab therapy, achieving a second morphological remission; however, his MRD remained detectable. During the fourth cycle of blinatumomab, the patient developed back pain and lower extremity weakness. Imaging revealed an extradural mass in the thoracic spine, resulting in spinal cord compression. Histopathologic evaluation of the mass confirmed a diagnosis of mixed-phenotype myeloid sarcoma harboring the same KMT2A rearrangement. Concurrent bone marrow biopsy revealed mixed-phenotype acute leukemia. The patient was subsequently lost to follow-up. This is the fourth reported case of myeloid sarcoma following blinatumomab therapy of persistent B-ALL. It highlights an unusual and serious pattern of relapse in an extramedullary site following blinatumomab therapy. Clinicians should remain vigilant for signs of lineage switch and extramedullary disease during treatment, particularly in patients with KMT2A-rearranged B-ALL, and consider imaging or biopsy when new neurologic or systemic symptoms arise.
Second Primary Malignancy in Ixazomib Maintenance Therapy for Multiple Myeloma: Case Report and Literature Review.
Wang Y, Xu CL, Huang DP … +1 more , Chen Y
Case Rep Hematol · 2025 · PMID 41306911 · Full text
OBJECTIVE: With the prolongation of life expectancy among multiple myeloma (MM) patients, the development of second primary malignancies (SPMs) has emerged as a serious issue, so it is worthwhile to explore the mechanism...
OBJECTIVE: With the prolongation of life expectancy among multiple myeloma (MM) patients, the development of second primary malignancies (SPMs) has emerged as a serious issue, so it is worthwhile to explore the mechanisms and therapeutic strategy regarding SPMs secondary to MM. CASE REPORT: We describe a patient with MM who developed secondary myelodysplastic syndrome (MDS) after 5 years of maintenance chemotherapy with ixazomib. DISCUSSION: In our case, the patient was young and did not have a cytogenetic examination; after a maintenance therapy with ixazomib for about 5 years, he developed the MDS. He was subsequently recommended for allogeneic hematopoietic stem cell transplantation (allo-HSCT) and remains alive. CONCLUSIONS: The possibility of an association between ixazomib maintenance treatment and increased SPMs cannot be excluded, requiring future studies with large samples.
Superwarfarin Rodenticide Poisoning due to Consumption of Exotic Animals: A Case Report.
Sadek B, Dasmarinas C, Patel I … +4 more , Bowman L, Xie P, Irons E, Jang A
Case Rep Hematol · 2025 · PMID 41293559 · Full text
Poisoning from superwarfarin rodenticides should be considered in patients with unexplained bleeding due to vitamin K deficiency, with no other history of coagulopathy or anticoagulant use. A 37-year-old man originally p...
Poisoning from superwarfarin rodenticides should be considered in patients with unexplained bleeding due to vitamin K deficiency, with no other history of coagulopathy or anticoagulant use. A 37-year-old man originally presented to our hospital with two weeks of oral bleeding and two days of hematuria of unknown etiology. Workup showed severely prolonged prothrombin time and extremely low activity of coagulation factors II, VII, IX, and X, raising suspicion for vitamin K deficiency. His coagulation studies gradually corrected after daily administration of high-dose intravenous vitamin K. An anticoagulant poisoning panel ultimately revealed high levels of brodifacoum rodenticide-likely from rodent meat ingestion during his vacation to China 2 months before. Our case highlights the importance of a thorough social and toxicologic investigation in patients with unexplained coagulopathy consistent with significant vitamin K deficiency.
How Early Is Too Early? Use of Lineage-Specific Chimerism in Early Detection of Donor-Derived Malignancy After Allogeneic Stem Cell Transplant: A Case Report.
Zaman-Pope V, Fulford A, Deotare U … +5 more , Philip S, Burnie C, Hardeman A, Xenocostas A, Meybodi AM
Case Rep Hematol · 2025 · PMID 41262169 · Full text
Allogeneic stem cell transplant is critical for treatment of certain hematologic malignancies. However, it has significant risks including relapsed malignancy, infection, and graft versus host disease. Rarely, de novo ma...
Allogeneic stem cell transplant is critical for treatment of certain hematologic malignancies. However, it has significant risks including relapsed malignancy, infection, and graft versus host disease. Rarely, de novo malignancy can arise from donor cells. Chimerism analysis is used to monitor engraftment and predict rejection or disease relapse. Our patient underwent an allogeneic transplant for myelodysplastic syndrome but had persistent pancytopenia despite donor lymphocyte infusion. This was due to donor-derived malignancy, which was predicted by loss of a satellite marker on chimerism analysis 6 months prior. This could have allowed earlier intervention and underscores the importance of detailed chimerism monitoring.
Simultaneous Involvement of Lung and Bone Tissues in Pediatric Anaplastic Large Cell Lymphoma ALK+: A Case Report.
Díaz-Torres CJ, Pando-Caciano A
Case Rep Hematol · 2025 · PMID 41255846 · Full text
Anaplastic large cell lymphoma (ALCL) is a subtype of non-Hodgkin lymphoma characterized by the presence of CD30+ lymphocytes. While nodal involvement is common, extranodal manifestations are less frequent, with the skin...
Anaplastic large cell lymphoma (ALCL) is a subtype of non-Hodgkin lymphoma characterized by the presence of CD30+ lymphocytes. While nodal involvement is common, extranodal manifestations are less frequent, with the skin being the most commonly affected organ, followed by the lungs, bones, and liver. We present the case of a 10-year-old girl who experienced a 4-month history of intermittent fever, abdominal pain, significant weight loss, and debilitating lumbar pain that restricted her mobility. Computed tomography scans performed at a national pediatric reference center in Lima, Peru, revealed osteolytic lesions primarily affecting the D12 vertebra. During hospitalization, the patient developed dyspnea and chest pain due to bilateral pleural effusions. The suspected diagnosis of ALK + ALCL was confirmed through lymph node biopsy, alongside the identification of malignant CD30+ cells in pleural fluid via flow cytometry. Following the initiation of chemotherapy, the patient experienced a complete resolution of symptoms. This case highlights the atypical simultaneous extranodal involvement of both bone and lung in pediatric ALK + ALCL, a manifestation rarely documented in the existing literature. Furthermore, it demonstrates the potential value of pleural fluid flow cytometry as a complementary diagnostic approach in ALCL, particularly when tissue biopsy is limited or not feasible. The insights provided in this report aim to assist healthcare professionals in diagnosing and managing similar cases encountered in clinical practice.
Importance of Inhibitor Surveillance During Emicizumab Prophylaxis in Young Children With Hemophilia: An Illustrative Case Series.
Bush KA, Durocher M, Limjoco J … +1 more , Thornburg CD
Case Rep Hematol · 2025 · PMID 41255845 · Full text
Hemophilia is an X-linked inherited bleeding disorder associated with bleeding, which starts in infancy. The age of initiation of prophylaxis with clotting factor concentrate is limited by the intravenous mode of adminis...
Hemophilia is an X-linked inherited bleeding disorder associated with bleeding, which starts in infancy. The age of initiation of prophylaxis with clotting factor concentrate is limited by the intravenous mode of administration. Emicizumab, a Factor VIII (FVIII) mimetic, may be initiated for prophylaxis in persons with hemophilia A (HA) in infancy, given the subcutaneous route of administration. Bleeds that occur while on emicizumab prophylaxis are treated with clotting factor concentrate. The primary risk of clotting factor concentrate is inhibitor development, with the highest risk occurring within the first 10-20 exposure days. Individuals on emicizumab who develop inhibitors may still use emicizumab for prophylaxis but require a change in bleed management. We report bleeding and inhibitor outcomes in six infants with severe HA, who were effectively treated with emicizumab prophylaxis starting at a median age of 8 months old. Two cases were diagnosed with high-titer inhibitors during surveillance testing performed after initiation of emicizumab. They continued emicizumab for prophylaxis and changed bleed management to Recombinant factor VIIa (rFVIIa). This report highlights the importance of ongoing inhibitor surveillance during emicizumab prophylaxis to ensure inhibitor detection, which requires a change in bleed management.
Uncommon Bedfellows: Coexistent T-Cell Large Granular Lymphocytic Leukaemia and Hodgkin Lymphoma-A Case Report.
van Tonder D, Roets B, Holland N
Case Rep Hematol · 2025 · PMID 41255844 · Full text
This case describes an exceptionally rare co-occurrence of Hodgkin lymphoma (HL) and T-cell large granular lymphocytic leukaemia (T-LGLL), highlighting the diagnostic and therapeutic complexity of dual lymphoid neoplasms...
This case describes an exceptionally rare co-occurrence of Hodgkin lymphoma (HL) and T-cell large granular lymphocytic leukaemia (T-LGLL), highlighting the diagnostic and therapeutic complexity of dual lymphoid neoplasms. A 39-year-old African man presented with B symptoms and was diagnosed with stage IIIB HL and achieved remission following six cycles of doxorubicin (adriamycin), bleomycin, vinblastine and dacarbazine (ABVD) chemotherapy with external beam radiotherapy. At diagnosis, bone marrow evaluation revealed lymphocytosis with aberrant T-cell phenotypes and biclonality in the T-cell receptor rearrangements, suggestive of a coexistent clonal T-cell process. Following treatment, he developed persistent lymphocytosis with conversion to a monoclonal T-cell population, indicating clonal selection. Nearly 3 years later, the patient relapsed with HL, accompanied by bone marrow infiltration by large granular lymphocytes with a monoclonal, aberrant cytotoxic T-cell phenotype, consistent with T-LGLL. This case is notable for the evolution of T-LGLL in the context of relapsed HL, possibly due to therapy related selection of a pre-existing T-cell clone. Literature on the coexistence of HL and T-LGLL is sparse, underscoring the rarity of this presentation.
Chronic Anaphylaxis With Indolent Systemic Mastocytosis: A Case Report.
Worth S, George TI, Shaheen DJ … +2 more , Roche M, Vachhani P
Case Rep Hematol · 2025 · PMID 41244098 · Full text
UNLABELLED: Systemic mastocytosis is a rare, clonal mast cell disease neoplasm driven by the D816V mutation in greater than 95% of cases. The complex clinical presentation of systemic mastocytosis can make diagnosis cha...
UNLABELLED: Systemic mastocytosis is a rare, clonal mast cell disease neoplasm driven by the D816V mutation in greater than 95% of cases. The complex clinical presentation of systemic mastocytosis can make diagnosis challenging. Treatment strategies often focus on management of symptoms, but many patients' symptoms are not well controlled on these regimens and have poor quality of life. We report the case of a 35-year-old Caucasian female who suffered repeated life-threatening anaphylactic episodes that greatly decreased her quality of life and that the best supportive care measures failed to control. Following extensive diagnostic evaluations including physical examination, clinical labs, hematology, and next-generation genetic screening, indolent systemic mastocytosis was confirmed by bone marrow biopsy according to World Health Organization 2016 criteria. The patient was subsequently treated with avapritinib, a selective tyrosine kinase inhibitor, after which she reported improved quality of life and physical activity. The diagnosis and optimal management of this complex and rare disease require a multidisciplinary approach combined with effective personalized therapeutic strategies. A confirmed diagnosis of indolent systemic mastocytosis led to the patient receiving an approved targeted treatment, with a favorable outcome. Novel precision therapies and refined diagnostic guidelines are critical to meet the high unmet needs of patients with indolent systemic mastocytosis and improve their quality of life. TRIAL REGISTRATION: ClinicalTrials.gov identifier: NCT03731260.
A Rare Case of (1; 19) Translocation in Acute Myeloid Leukemia: Evaluation of a High-Risk Patients.
Beskisiz Dönen S, Karakuş A, Ayyıldız MO
Case Rep Hematol · 2025 · PMID 41244097 · Full text
Acute Myeloid Leukemia (AML) is a heterogeneous malignancy arising from the malignant transformation of hematopoietic stem cells, characterized by the accumulation of blasts in the myeloid lineage. While common cytogenet...
Acute Myeloid Leukemia (AML) is a heterogeneous malignancy arising from the malignant transformation of hematopoietic stem cells, characterized by the accumulation of blasts in the myeloid lineage. While common cytogenetic alterations in AML play a critical role in prognostic classification, rare chromosomal translocations may have distinct impacts on disease biology and treatment response. In this report, we present a high-risk AML case harboring the (1; 19) translocation. By highlighting the diagnostic and therapeutic challenges posed by this uncommon genetic aberration, this case aims to contribute to clinical practice in the field of hematology.
Effective Management of Refractory Paraneoplastic Vasculitis in Myelodysplastic Syndromes With Azacitidine, Prednisolone, and Azathioprine.
Takaba M, Nakano K, Yoda A … +2 more , Otsuki Y, Fujisawa S
Case Rep Hematol · 2025 · PMID 41244096 · Full text
A 62-year-old man presented with left ear pain, sensorineural hearing loss, and high-grade fever. Peripheral blood tests revealed abnormal blood cells, prompting further investigation that led to a diagnosis of myelodysp...
A 62-year-old man presented with left ear pain, sensorineural hearing loss, and high-grade fever. Peripheral blood tests revealed abnormal blood cells, prompting further investigation that led to a diagnosis of myelodysplastic syndromes (MDS) with paraneoplastic vasculitis. Since initial treatment with azacitidine (Aza) was insufficient, additional immunosuppressive therapy was required. The disease was effectively controlled with a combination of Aza, prednisolone, and azathioprine, with no relapse for 10 treatment courses. However, the disease later transformed into acute myeloid leukemia. This case highlights the efficacy and feasibility of additional treatment with steroids and azathioprine for refractory paraneoplastic vasculitis associated with MDS, while emphasizing the need for careful monitoring of leukemic progression under prolonged immunosuppression.
Masking as Myelofibrosis: A Case of Tp53 Mutated Acute Erythroid Leukemia Presenting With Pancytopenia and Bone Pain.
Parker K, Cutrer RC
Case Rep Hematol · 2025 · PMID 41235128 · Full text
Acute erythroid leukemia is a rare form of acute myeloid leukemia, comprising only 1% of myelogenous leukemia diagnoses. Presentations can vary and given its aggressive nature, prompt investigation and appropriate treatm...
Acute erythroid leukemia is a rare form of acute myeloid leukemia, comprising only 1% of myelogenous leukemia diagnoses. Presentations can vary and given its aggressive nature, prompt investigation and appropriate treatment are needed when suspicions arise. Here, we discuss a case of a 54-year-old male who initially presented with worsening fatigue and dyspnea on exertion and was found to have significant pancytopenia. Bone marrow biopsy initially demonstrated significant fibrosis concerning for primary myelofibrosis, though JAK2 testing was negative. He was started on JAK inhibitor therapy with pacritinib but clinically declined over the next several days with worsening diffuse pain and pancytopenia. A repeat bone marrow biopsy demonstrated acute erythroid leukemia with biallelic Tp53 mutations. He was subsequently started on FLAG-Ida-Ven induction, with complete remission obtained after induction. Transplant work-up was started, and he received a cycle of FLAG-Ida-Ven consolidation. Shortly after, the patient presented to an outside hospital with septic shock, at which point the patient expired. This case illustrates the aggressive nature of the disease, the need for confirmatory testing when diagnosis is suspected and the difficulty in management as the prognosis is poor and requires aggressive treatment that can lead to life-threatening sequelae.
Heterogeneous Presentations of iMCD: A Single-Institution Case Series.
Kaur J, Sisk A, Zuckerman JE … +1 more , Abdulhaq H
Case Rep Hematol · 2025 · PMID 41220922 · Full text
BACKGROUND: Idiopathic multicentric Castleman disease (iMCD) is a rare lymphadenopathic disorder characterized by hyperplasia of multiple lymph nodes and can be associated with a wide range of symptoms and presentations,...
BACKGROUND: Idiopathic multicentric Castleman disease (iMCD) is a rare lymphadenopathic disorder characterized by hyperplasia of multiple lymph nodes and can be associated with a wide range of symptoms and presentations, from mild disease to life-threatening organ failure. Varied histopathological features and heterogeneous presentation of this rare entity can make the diagnosis quite challenging for both hematologists and other specialists who may encounter patients at various stages of disease progression. METHOD: We analyze five different clinical presentations at our institution to demonstrate challenging routes of diagnosis and treatment complexities of iMCD. We aim to raise awareness to the importance of early diagnosis and appropriate management of this rare condition. RESULTS: All patients in this series presented with symptomatic lymphadenopathy. We highlight one rare instance of thrombocytopenia, anasarca/ascites, fever, reticulin fibrosis or renal dysfunction, and organomegaly (TAFRO) syndrome with elusive iMCD, which illustrates the challenges in the diagnosis of this rare condition and the importance of early recognition of its symptoms to avoid decompensation of patients. We also review established treatment guidelines and response criteria to siltuximab as outlined in the international consensus treatment guidelines. CONCLUSION: These cases highlight the heterogeneity and challenging diagnosis of this rare cytokine-driven hematological disorder and the role of siltuximab in the treatment of iMCD.
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