Case Reports In Hematology[JOURNAL]
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200 papers
Extranodal Nasal Type NK/T-Cell Lymphoma of the Transverse Colon With Gastrointestinal Perforation in a 15-Year-Old: Durable Remission With Modified SMILE Chemotherapy and HSCT.
Christoffel DD, Tam IS, Milbrandt K … +4 more , Wu Y, Chawla R, Lewis VA, D'Alessandro PR
Case Rep Hematol · 2026 · PMID 42396568 · Full text
NK/T-cell lymphoma (NKTCL) is an aggressive lymphoma associated with Epstein-Barr virus (EBV), with higher incidence in Asian populations. Typically, patients present in their fifth decade with extranodal disease in the...
NK/T-cell lymphoma (NKTCL) is an aggressive lymphoma associated with Epstein-Barr virus (EBV), with higher incidence in Asian populations. Typically, patients present in their fifth decade with extranodal disease in the upper aerodigestive tract. Pediatric NKTCL is rare, with no established pediatric standard of care treatment. We describe the case of a healthy 15-year-old Filipino-Canadian male who presented with transverse colon perforation and was diagnosed with extranodal EBV + nasal type NKTCL of the gastrointestinal (GI) tract. After a complicated initial surgical course, we elected to treat him using six cycles of modified SMILE (dexamethasone, PEG-asparaginase, ifosfamide, and etoposide) chemotherapy and consolidative hematopoietic stem cell transplant (HSCT). The post-HSCT course involved cytomegalovirus reactivation (buccal lesions, viremia); adenovirus reactivation (positive nasal swab, viremia); zoster reactivation; acute and chronic oral/upper GI graft-versus-host disease (GVHD); chronic skin GVHD (vitiligo); and avascular necrosis. At the most recent follow-up, surveillance imaging and investigations at 2 years post-transplant showed durable CR1 and 100% donor chimerism. To our knowledge, this is the fourth reported case of primary GI NKTCL in a pediatric/adolescent patient; the only patient treated with an asparaginase-containing regimen; and the only patient to undergo consolidative HSCT. Our patient's outcome supports the utilization of an aggressive approach to treat GI NKTCL in young, fit patients similar to Stage III/VI nasal NKTCL. Our case also highlights unique treatment considerations for adolescent cancer patients, including delayed diagnoses and lack of standardized protocols.
Unmasking Evans Syndrome: A Case of New Onset Anemia and Thrombocytopenia in a Pregnant Patient With Systemic Lupus Erythematosus.
Bittner C, Ryden NA, Jacocks C … +1 more , Kou CJ
Case Rep Hematol · 2026 · PMID 42396567 · Full text
Evans Syndrome (ES) is an immune-mediated disorder defined by the presence of two or more autoimmune cytopenias, typically autoimmune hemolytic anemia (AIHA) and immune thrombocytopenic purpura (ITP), with or without ass...
Evans Syndrome (ES) is an immune-mediated disorder defined by the presence of two or more autoimmune cytopenias, typically autoimmune hemolytic anemia (AIHA) and immune thrombocytopenic purpura (ITP), with or without associated neutropenia. The disease can be classified as primary (i.e., idiopathic) or secondary to other underlying conditions, such as systemic lupus erythematosus (SLE), lymphoproliferative disorders, infections, and immunodeficiency states. We present a case of ES in a 21-year-old pregnant woman (G1P0, 19 weeks and 2 days gestation) secondary to SLE. The patient was treated with high-dose steroids and intravenous immunoglobulin therapy (IVIG), resulting in marked improvement in her cell counts. Following delivery, she was diagnosed with SLE and began treatment with rituximab and hydroxychloroquine, leading to remission of her symptoms and normalization of her anemia and thrombocytopenia. The varied presentations and associated conditions make ES a challenging diagnostic conundrum. Differentiating between primary and secondary ES is crucial for prognosis and management.
Molecular Relapse After a Second Treatment-Free Remission Attempt Following Asciminib in Chronic Myeloid Leukemia: A Case Report.
Sato N, Yoshimaru R, Guo YM … +4 more , Nakamura H, Matsuda K, Minami Y, Yuda J
Case Rep Hematol · 2026 · PMID 42369861 · Full text
Treatment-free remission (TFR) has become an important therapeutic goal in chronic myeloid leukemia (CML). Although the outcomes of TFR following adenosine triphosphate (ATP)-competitive tyrosine kinase inhibitors (TKIs)...
Treatment-free remission (TFR) has become an important therapeutic goal in chronic myeloid leukemia (CML). Although the outcomes of TFR following adenosine triphosphate (ATP)-competitive tyrosine kinase inhibitors (TKIs) have been established, data on TFR after asciminib discontinuation remain limited. In this study, we report the case of a man in his 60s with chronic-phase CML who experienced molecular relapse 8 months after a second TFR attempt following asciminib treatment. The patient was diagnosed with CML approximately 15 years earlier and achieved deep molecular response 4.5 (MR4.5), representing a 4.5-log reduction in transcripts, with first-line imatinib. After the first TFR attempt, major molecular response (MMR) was lost, and ponatinib was initiated but discontinued because of cerebral infarction. Asciminib was subsequently introduced as third-line therapy at a dose of 40 mg twice daily, and transcripts remained undetectable for more than 3 years. Based on the sustained deep molecular response and patient preference, asciminib was discontinued. Eight months after discontinuation, however, loss of MR4.0 (BCR::ABL1 > 0.01% IS) was detected. This threshold was used to guide treatment reinitiation, rather than waiting for loss of MMR as recommended by the ELN guidelines, in the view of the clinical context of a second TFR attempt following prior failure. Imatinib was reintroduced, leading to the reachievement of a deep molecular response. This case underscores the importance of careful patient selection and long-term molecular monitoring following TFR attempts, including those involving novel TKIs such as asciminib.
Common Clonal Origin of Core-Binding-Factor AML in Both Donor and Recipient Following Kidney Transplantation.
Hout FEMI', Roerink M, Maas RJ … +4 more , Hebeda KM, van der Reijden BA, van der Velden WJFM, Langemeijer SMC
Case Rep Hematol · 2026 · PMID 42369860 · Full text
Kidney transplant recipients are at higher risk of developing malignancies compared with the general population, which are mostly recipient in origin. We describe a patient who developed a donor-derived acute myeloid leu...
Kidney transplant recipients are at higher risk of developing malignancies compared with the general population, which are mostly recipient in origin. We describe a patient who developed a donor-derived acute myeloid leukemia (AML) five years after kidney transplantation. His donor developed AML four years earlier, providing proof of transmission of leukemia-initiating cells in solid organ transplant (SOT).
T-Cell Lymphoma With Sarcoid-Like Reaction and Secondary Myelofibrosis: A Unique Case Report and Literature Review.
Morecroft R, Lateef A, Parker JB … +9 more , Sauls R, Phillipps J, Chipi P, Wolf E, Rivera C, Bourgeois K, Wang B, Majithia V, Mumtaz S
Case Rep Hematol · 2026 · PMID 42358495 · Full text
INTRODUCTION: T-cell lymphomas are rare, comprising 10%-15% of non-Hodgkin lymphomas (NHLs). Their etiology remains unclear, and pathophysiology varies widely among subtypes. Sarcoid-like reactions (SLRs) have been repor...
INTRODUCTION: T-cell lymphomas are rare, comprising 10%-15% of non-Hodgkin lymphomas (NHLs). Their etiology remains unclear, and pathophysiology varies widely among subtypes. Sarcoid-like reactions (SLRs) have been reported in approximately 7.3% of NHLs, including T-cell lymphomas, and can closely resemble sarcoidosis clinically/histologically. This overlap complicates diagnosis, particularly when secondary myelofibrosis-a rare and poorly understood complication-arises. Myelofibrosis has also been observed in sarcoidosis, further blurring the distinction between these entities. Treatment for T-cell lymphoma-associated secondary myelofibrosis is not standardized, with predominantly CHOP-based regimens showing variable efficacy. This warrants further research to guide diagnostic and management frameworks. CASE DESCRIPTION: We report the case of a 57-year-old male with known systemic sarcoidosis who developed recurrent symptomatic hypercalcemia and new-onset transfusion-dependent pancytopenia. Initial evaluation revealed bone marrow fibrosis with noncaseating granulomas, raising concern for sarcoidosis-driven secondary myelofibrosis. However, repeat bone marrow biopsy demonstrated T-cell lymphoma with a SLR. Primary myelofibrosis was excluded, supporting a secondary lymphoma-driven process. The patient is currently undergoing treatment with BV-CHP with close hematologic monitoring. CONCLUSION: T-cell lymphoma-associated SLR can closely mimic sarcoidosis and should be considered in the differential, particularly in patients with atypical presentations or cytopenias. Despite similar clinical and histological features, the underlying pathophysiology differs, necessitating thorough molecular and immunophenotypic evaluation. Though rare, this entity can lead to secondary myelofibrosis, underscoring the importance of excluding a primary myeloproliferative process. Further research is needed to define optimal therapy, with BV-CHP representing a promising option in the evolving landscape of T-cell lymphoma management.
The Challenge of Differentiating Mixed Histiocytosis: A Case Report.
Harris L, Arnolda R, Ogburn D … +1 more , Mallidi P
Case Rep Hematol · 2026 · PMID 42326968 · Full text
Langerhans cell histiocytosis (LCH) and Erdheim-Chester Disease (ECD) are two forms of histiocytic disease with some overlapping features. They can have multisystem involvement, which makes it a diagnostic challenge. In...
Langerhans cell histiocytosis (LCH) and Erdheim-Chester Disease (ECD) are two forms of histiocytic disease with some overlapping features. They can have multisystem involvement, which makes it a diagnostic challenge. In this report, we present a patient who was diagnosed with both LCH and ECD over the span of 7 years. A 69-year-old female with a past medical history of hypertension, hyperlipidemia, and diabetes mellitus presented with right ear pressure and was subsequently diagnosed with LCH after a mastoid bone biopsy in 2017. She then underwent mass resection. Two years later, during an abdominal MRI for evaluation of cholestatic disease, a large pericardial effusion with pericardial thinning was discovered. Cardiac MRI was concerning for a soft tissue mass anterior and superior to the right atrium, suggestive of infiltrative processes such as histiocytosis. Seven years after the initial presentation, she underwent a pericardial biopsy that diagnosed ECD. It is important to recognize that even though mixed disease is rare, clinical suspicion needs to be high. This is particularly true for patients with cardiac features that would be atypical in LCH to ensure prompt treatment.
Ivermectin Treatment for Associated Recurrence of Nongastric MALT Lymphoma.
Misirian A, Quon CM, Maranzano M … +1 more , Tam E
Case Rep Hematol · 2026 · PMID 42326967 · Full text
A healthy 64-year-old male originally from Peru presented with fever and abdominal pain and was successfully treated for colitis. An interval colonoscopy revealed mucosa-associated lymphoid tissue (MALT) lymphoma initia...
A healthy 64-year-old male originally from Peru presented with fever and abdominal pain and was successfully treated for colitis. An interval colonoscopy revealed mucosa-associated lymphoid tissue (MALT) lymphoma initially in remission after four doses of rituximab and radiation with 24 Gy in 12 fractions. Two years after treatment, his symptoms returned, with a workup revealing recurrence of his MALT lymphoma. Biopsies revealed an underlying duodenal infection. In lieu of systemic chemotherapy, the patient was treated with oral ivermectin, which resulted in a complete response. MALT lymphoma is an indolent malignancy that can respond to treatment of an underlying infectious cause, and clinicians should be mindful of broad infectious etiologies, especially in immigrant populations.
Allogeneic Stem Cell Transplantation in Patients With Mixed Chimerism Following Double Cord Blood Transplantation: A Case Report.
Park Y, Lee S, Kim J … +1 more , Kim JA
Case Rep Hematol · 2026 · PMID 42290882 · Full text
INTRODUCTION: Double-unit cord blood transplantation (dCBT) is an established strategy to enhance progenitor cell dose and accelerate hematopoietic recovery when a matched sibling or unrelated donor is unavailable. While...
INTRODUCTION: Double-unit cord blood transplantation (dCBT) is an established strategy to enhance progenitor cell dose and accelerate hematopoietic recovery when a matched sibling or unrelated donor is unavailable. While dCBT typically results in the dominance of a single unit, the persistence of donor-donor mixed chimerism is an exceptionally rare clinical phenomenon. This case report describes a unique therapeutic strategy where persistent donor-donor chimerism following dCBT was utilized to redefine the recipient's HLA profile for a subsequent successful allogeneic transplantation. CASE PRESENTATION: A 38-year-old patient with diffuse large B-cell lymphoma experienced disease relapse following autologous peripheral blood stem cell transplantation. After achieving a second remission through salvage chemotherapy, the patient underwent dCBT due to the absence of a compatible HLA-matched donor. Fifteen months posttransplantation, the disease relapsed again; however, further salvage therapy successfully induced a third remission. Notably, HLA analysis revealed persistent donor-donor mixed chimerism with one unit maintaining clear dominance. Because no suitable matches existed for the patient's native HLA type, the dominant donor's HLA genotype was utilized as the new target for donor selection. This shift facilitated the identification of a matched allogeneic peripheral blood stem cell transplantation (allo-PBSCT) donor. CONCLUSION: The patient subsequently underwent a second allo-PBSCT based on the dominant donor's HLA profile. The procedure resulted in robust engraftment and complete donor chimerism without the occurrence of graft-versus-host disease. The patient has remained in relapse-free survival for over 4 years. This case demonstrates that in the rare event of persistent donor-donor chimerism post-dCBT, the emergent dominant HLA genotype can serve as a viable and effective target for donor selection, providing a life-saving alternative for patients who lack native HLA-matched donors.
A Rare Case of Neonatal Kaposiform Hemangioendothelioma With Kasabach-Merritt Phenomenon Presenting as an Abdominal Mass Without Cutaneous Manifestations.
Park SY, Halari A, Palacio-Meadows J … +3 more , Parikh NS, Bentsen D, Puvabanditsin S
Case Rep Hematol · 2026 · PMID 42290881 · Full text
Kaposiform hemangioendothelioma (KHE) is a rare vascular neoplasm that typically presents in infancy or early childhood, classified as a locally aggressive/borderline vascular tumor. It most commonly involves superficial...
Kaposiform hemangioendothelioma (KHE) is a rare vascular neoplasm that typically presents in infancy or early childhood, classified as a locally aggressive/borderline vascular tumor. It most commonly involves superficial and deep soft tissues, often demonstrating infiltrative growth into adjacent muscle and bone, whereas retroperitoneal or intraabdominal presentations are less frequent. KHE is frequently complicated by Kasabach-Merritt phenomenon (KMP), a severe consumptive coagulopathy characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and hypofibrinogenemia with life-threatening sequelae. We report a case of a male neonate who developed KMP secondary to an abdominal KHE without overlying cutaneous involvement. Diagnosis was established through integration of clinical features, imaging findings, hematological evaluation, and confirmatory biopsy. This patient was managed with a multimodal regimen of sirolimus, corticosteroids, and vincristine, resulting in significant clinical improvement. This case underscores both the diagnostic complexity and therapeutic challenges of KHE complicated by KMP, particularly when lesions occur in deep anatomical sites. Given the rarity of this condition, current management strategies rely largely on expert consensus and case-based experience, though recent randomized trial and consensus have established sirolimus-based regimens as highly effective first-line therapy.
Synchronous Presentation of Chronic Myelomonocytic Leukemia and Multiple Myeloma in a Treatment-Naïve Patient.
Sweileh MW, Qamhia N, Batta A … +3 more , Asaad H, Odeh RY, Swaileh M
Case Rep Hematol · 2026 · PMID 42290880 · Full text
BACKGROUND: Chronic myelomonocytic leukemia (CMML) is a clonal myelodysplastic/myeloproliferative neoplasm characterized by persistent peripheral blood monocytosis and dysplastic bone marrow morphology. Multiple myeloma...
BACKGROUND: Chronic myelomonocytic leukemia (CMML) is a clonal myelodysplastic/myeloproliferative neoplasm characterized by persistent peripheral blood monocytosis and dysplastic bone marrow morphology. Multiple myeloma (MM) is a plasma cell malignancy defined by clonal plasma cell proliferation and myeloma-defining events. The synchronous occurrence of CMML and MM is exceptionally rare, particularly in treatment-naïve and relatively young patients. CASE PRESENTATION: We present a 42-year-old-male presenting with progressive fatigue and leukocytosis. Laboratory evaluation revealed marked absolute monocytosis (16.4 × 10/L), anemia, and neutropenia. Bone marrow examination demonstrated an expanded abnormal monocytic population, further confirmed by multiparametric flow cytometry. Conventional cytogenetic analysis revealed monosomy 7, supporting the presence of a clonal myeloid neoplasm consistent with CMML. Concurrently, bone marrow biopsy showed 10%-15% plasma cells. Serum protein electrophoresis identified an IgG kappa monoclonal paraprotein (3.5 g/dL), and imaging showed a lytic bone lesion and biopsy-provided extramedullary plasmacytoma, meeting the diagnostic criteria of symptomatic MM. The patient has no prior exposure to cytotoxic therapy. He received one cycle of azacitidine with subsequent worsening cytopenias, underscoring therapeutic complexity. CONCLUSIONS: This case describes a rare concurrent presentation of CMML and MM in a young, treatment-naïve patient. The combination of persistent monocytosis, dysplastic marrow findings, and monosomy 7 supported the presence of clonal myeloid process coexisting with plasma cell myeloma. Recognizing concurrent hematologic malignancies is essential, as diagnostic overlap and treatment interactions present substantial management challenges. Additional molecular characterization of similar cases may elucidate potential pathogenetic connections and guide tailored therapeutic approaches.
Exploring the Origin of Cells in the Progression of Primary Myelofibrosis to Acute Myeloid Leukemia Case Report.
Papayanis P, Conroy K, Larson M … +2 more , Nathan S, Ustun C
Case Rep Hematol · 2026 · PMID 42282258 · Full text
Primary myelofibrosis (PMF) is the clonal proliferation of common myeloid progenitor (CMP) cells and can transform into acute myeloid leukemia (AML). The exact transformation process and cell lines involved are not well-...
Primary myelofibrosis (PMF) is the clonal proliferation of common myeloid progenitor (CMP) cells and can transform into acute myeloid leukemia (AML). The exact transformation process and cell lines involved are not well-understood. A patient with PMF received an allogenic hematopoietic stem cell transplant (alloHCT) from his major ABO incompatible sibling and developed pure red cell aplasia that resolved when his blood type switched to that of his donor's. He relapsed with AML 10 months after alloHCT; interestingly, his blood type remained his donor's type. This supports that AML in this patient with PMF stemmed from more committed progenitors (myeloblasts) than CMP.
Waldenström Macroglobulinemia Presenting With Hepatic Lesions: Case Report and Literature Review.
Sternbach N, Bishara S, Gertz MA … +1 more , Vaxman I
Case Rep Hematol · 2026 · PMID 42282257 · Full text
Waldenström macroglobulinemia (WM) is a rare lymphoplasmacytic lymphoma characterized by bone marrow (BM) infiltration and monoclonal IgM secretion. Clinical manifestations most often reflect BM involvement, lymphadenopa...
Waldenström macroglobulinemia (WM) is a rare lymphoplasmacytic lymphoma characterized by bone marrow (BM) infiltration and monoclonal IgM secretion. Clinical manifestations most often reflect BM involvement, lymphadenopathy, or splenomegaly, while extramedullary disease is uncommon. Hepatic infiltration usually presents as diffuse hepatomegaly; focal hepatic lesions are exceedingly rare, with only two cases previously reported. We describe a 63-year-old woman with a history of celiac disease who presented with fatigue and pancytopenia. Laboratory testing showed elevated IgM with an IgM-λ monoclonal protein. Imaging revealed multiple hypodense hepatic lesions, splenomegaly, and small-volume lymphadenopathy. BM biopsy demonstrated lymphoplasmacytic lymphoma with -restricted plasma cells, and molecular studies were negative for MYD88 L265P and CXCR4 mutations. Liver biopsy showed granulomatous inflammation with necrosis, accompanied by IgM-positive, -restricted B cells clonally related to the BM infiltrate, consistent with WM involvement. Sarcoidosis and infectious causes were excluded. The patient received six cycles of bendamustine and rituximab (BR), leading to a reduction in hepatic lesions and IgM levels, though treatment was complicated by persistent cytopenias. This case represents the first reported instance of WM presenting with focal hepatic lesions associated with IgM paraproteinemia and a sarcoid-like granulomatous reaction. Recognition of such atypical presentations is essential, as they may mimic primary hepatic lymphoma, sarcoidosis, or infectious granulomatous disease. Comprehensive histopathological and molecular evaluation is critical for accurate diagnosis and appropriate therapy. Our report expands the spectrum of extramedullary WM and highlights the potential for favorable response to BR despite unusual presentation.
Outpatient Rescue With Stem Cells Boost for Refractory Hematotoxicity Following anti-BCMA CAR T-Cell Therapy: A Case Report.
Loukhnati M, Hebraud B, Cazaux M … +10 more , Borel C, Bories P, Martignoles JA, Granell M, Cougoul P, Dion J, Oberic L, Huynh A, Tazi I, Perrot A
Case Rep Hematol · 2026 · PMID 42257064 · Full text
Prolonged and refractory hematotoxicity is a severe complication of anti-BCMA CAR-T cell therapy, associated with substantial morbidity. When conventional supportive measures (transfusions and hematopoietic growth factor...
Prolonged and refractory hematotoxicity is a severe complication of anti-BCMA CAR-T cell therapy, associated with substantial morbidity. When conventional supportive measures (transfusions and hematopoietic growth factors) fail, alternative strategies are urgently needed. We report the case of a 55-year-old man who developed persistent cytopenias after idecabtagene vicleucel. Reinfusion of cryopreserved autologous stem cells (stem cell boost), administered without conditioning chemotherapy, resulted in rapid and complete hematopoietic recovery after 14 days. This case highlights the potential of stem cell boost as a salvage approach for prolonged post-CAR-T hematotoxicity and underscores the need for prospective multicenter studies to standardize indications, timing, and procedures for this intervention.
Paroxysmal Nocturnal Hemoglobinuria Presenting With Progressive Biventricular Thrombi.
Nunnelee JS, Weber GA, Bergeron NP … +4 more , Talbott KE, Layman AJ, Dingli D, Godby RC
Case Rep Hematol · 2026 · PMID 42257063 · Full text
A 34-year-old previously healthy woman presented with right-sided, pleuritic chest pain three weeks after a viral respiratory infection. Labs revealed hemoglobin of 10.2 g/dL (nadir 7.0), platelets of 109 × 10/L, LDH of...
A 34-year-old previously healthy woman presented with right-sided, pleuritic chest pain three weeks after a viral respiratory infection. Labs revealed hemoglobin of 10.2 g/dL (nadir 7.0), platelets of 109 × 10/L, LDH of 1129 U/L (Ref: 122-222 U/L), undetectable haptoglobin, indirect hyperbilirubinemia, and elevated reticulocytes. Troponins were elevated. CRP was 184 mg/L (Ref: ≤ 5 mg/L). Peripheral smear was without schistocytes. Direct antiglobulin testing was negative. Urinalysis showed microscopic hematuria and positive hemosiderin. Echocardiogram revealed normal left ventricular (LV) function with left lateral wall hypokinesis and a 2.5 × 3 cm LV thrombus. Cardiac MRI was concerning for myopericarditis and new right ventricular (RV) thrombus, later verified by biopsy. There was also an infarction of the RV endomyocardium. Anticoagulation was initiated. Bone marrow biopsy showed erythroid hyperplasia without clonal myeloid features. Flow cytometry showed 57% CD59 deficient red blood cells, 88% CD157 deficient monocytes, and 91% CD157 deficient neutrophils, consistent with a new diagnosis of paroxysmal nocturnal hemoglobinuria (PNH). She was urgently vaccinated against encapsulated organisms, treated with eculizumab, and given antibacterial prophylaxis. Follow-up imaging showed near resolution of thrombi; hemoglobin and hemolysis markers normalized. PNH is a clonal hematopoietic disorder causing complement-mediated hemolysis and thrombosis. While thrombosis typically affects atypical venous sites, intracardiac thrombi are rare. PNH was the patient's only identified prothrombotic factor. This is the first reported case of intracardiac thrombosis in a previously healthy patient with new-onset PNH. Early recognition and complement inhibition are critical to reduce hemolysis, thrombosis, and mortality in PNH.
Very Late Extramedullary Relapse of Acute Myeloid Leukemia 13 Years After Allogeneic Transplant: A Case Report.
von Aarburg Y, Beerlage A, Juskevicius D … +7 more , Rütsche C, Dirks J, Grobholz R, Hartmann B, Mathew R, Leonards K, Gerull S
Case Rep Hematol · 2026 · PMID 42257062 · Full text
Relapse of acute myeloid leukemia (AML) typically occurs within the first 3 years following treatment, with very late relapses being rare and often presenting extramedullary. We report a unique case of extramedullary AML...
Relapse of acute myeloid leukemia (AML) typically occurs within the first 3 years following treatment, with very late relapses being rare and often presenting extramedullary. We report a unique case of extramedullary AML relapse occurring 13 years after allogeneic hematopoietic stem cell transplantation. The patient developed a myelosarcoma, prompting molecular and histological investigation to determine the origin and mutational landscape of the disease. Next-generation sequencing (NGS) was performed on archived bone marrow samples from the initial AML diagnosis in 2007 and on the relapsed tumor tissue from 2021. The 2007 sample contained nine somatic variants, while the 2021 myelosarcoma harbored four variants. Only a single somatic mutation, a frameshift alteration in the gene, located on 9q21, was shared across both timepoints, suggesting a potential founder event and supporting the hypothesis of clonal evolution. Chimerism analysis and histopathological findings confirmed that the relapse originated from the patient rather than from donor-derived hematopoiesis. This case underscores the importance of long-term vigilance in AML survivors, especially in those receiving chronic immunosuppression, as impaired immune surveillance may allow for reemergence of malignant clones. The persistent mutation across both disease phases may point to a rare but critical driver of leukemogenesis and relapse. Our findings highlight the utility of comprehensive molecular profiling in elucidating disease dynamics and informing personalized monitoring strategies.
Wandering Lymphoma: A Case of Wandering Spleen Secondary to Splenic Marginal Zone Lymphoma.
Parker JB, Wilson C, Parrondo R … +1 more , Alhaj Moustafa M
Case Rep Hematol · 2026 · PMID 42220417 · Full text
BACKGROUND: Splenic marginal zone lymphoma (SMZL) is a rare subtype of non-Hodgkin lymphoma. It often follows an indolent course presenting with splenomegaly. Treatment varies from clinically monitoring to splenectomy, c...
BACKGROUND: Splenic marginal zone lymphoma (SMZL) is a rare subtype of non-Hodgkin lymphoma. It often follows an indolent course presenting with splenomegaly. Treatment varies from clinically monitoring to splenectomy, chemotherapy, and rituximab treatments. Wandering spleen is an even rarer condition with less than 500 cases reported in the literature, often resulting from laxity in the suspensory ligaments supporting the spleen. Wandering spleen most commonly affects women of childbearing age and children. Treatment for this can be either nonsurgical or surgical with splenopexy or splenectomy. CASE PRESENTATION: A 75-year-old female initially presented from Mexico for evaluation of splenomegaly and abdominal distension. Computer tomography (CT) scan of the abdomen and pelvis showed a pelvic mass, and labs showed leukocytosis with lymphocytic predominance. The pelvic mass was later confirmed as a wandering spleen. Flow cytometry on peripheral blood was diagnostic for SMZL. The patient was diagnosed with wandering spleen secondary to SMZL and treated with splenectomy. CONCLUSION: Wandering spleen is very rare and is typically associated with pregnancy, splenomegaly, or inborn errors of the ligaments supporting the spleen. This is only the fifth case reported in the literature of wandering spleen secondary to a lymphoma and the first reported with SMZL. This case offers a simultaneous presentation of two very rare conditions presenting in an atypical fashion. SMZL commonly presents in this age group; however, wandering spleen is rarely seen at this age. Additionally, this patient's first-line treatment for her SMZL was nontraditional with only a splenectomy with no rituximab administered due to the risk of torsion and infarction of the wandering spleen.
Metachronous B-Cell Acute Lymphoblastic Leukemia After Localized Neuroblastoma Treated Without Cytotoxic Therapy: A Case Report.
Sedghi R, Nazar Zadeh A, Bordbar M … +2 more , Zekavat OR, Parand S
Case Rep Hematol · 2026 · PMID 42206271 · Full text
A 7-month-old infant developed therapy-independent acute lymphoblastic leukemia (ALL) 8 months after complete resection of an International Neuroblastoma Risk Group (INRG) Stage L1 adrenal neuroblastoma (N-MYC nonamplifi...
A 7-month-old infant developed therapy-independent acute lymphoblastic leukemia (ALL) 8 months after complete resection of an International Neuroblastoma Risk Group (INRG) Stage L1 adrenal neuroblastoma (N-MYC nonamplified) treated with surgery alone. The patient presented with leukemia cutis and discordant bone marrow findings: the initial aspirate revealed > 90% lymphoblasts (CD45+/CD19+/CD10+/TdT+), whereas two subsequent marrow examinations showed normocellular hematopoiesis, suggesting spatially heterogeneous marrow involvement with predominant extramedullary disease. Skin biopsy confirmed leukemic infiltration (PAX5+/TdT+/CD34+/CD10-). Germline testing was not available. Standard-risk chemotherapy achieved complete remission, and the patient is currently receiving maintenance therapy. This case highlights that second primary ALL can occur in the absence of cytotoxic therapy after neuroblastoma and underscores the need for long-term surveillance and consideration of genetic evaluation in selected patients.
Sickle Cell Hepatic Vaso-Occlusive Crisis: A Case Report.
Rambaran B
Case Rep Hematol · 2026 · PMID 42206270 · Full text
Sickle cell disease (SCD) is an inherited hemoglobinopathy caused by a point mutation in the β-globin gene, resulting in hemoglobin S polymerization under hypoxic conditions. This process leads to erythrocyte dehydration...
Sickle cell disease (SCD) is an inherited hemoglobinopathy caused by a point mutation in the β-globin gene, resulting in hemoglobin S polymerization under hypoxic conditions. This process leads to erythrocyte dehydration, impaired deformability, hemolysis, and recurrent vaso-occlusion, which may culminate in acute painful crises and progressive organ damage. Hepatic involvement is a recognized but underreported complication of SCD and can range from mild biochemical abnormalities to life-threatening hepatic vaso-occlusive crisis (VOC). This case report presents a 25-year-old woman, with homozygous sickle cell anemia who developed a rapidly progressive hepatic VOC following a mild respiratory illness. Her clinical course was marked by acute abdominal pain, severe transaminitis, cholestasis, escalating transfusion requirements, and radiologic evidence of hepatomegaly. Clinical and biochemical improvement was observed following a multimodal management approach that included supportive care, corticosteroids, blood transfusion, and the addition of intravenous metronidazole. This case highlights hepatic VOC as a serious manifestation of SCD and explores the potential role of metronidazole as an adjunctive therapy, given its immunomodulatory and anti-inflammatory properties. Further investigation is warranted to clarify its therapeutic role in sickle cell-related vaso-occlusive complications.
Hydroxyurea-Associated Wunderlich Syndrome in Triple-Negative Myelofibrosis: A Case Report and Literature Review.
Erol V, Güzel Z, Akgün İE … +1 more , Ecer G
Case Rep Hematol · 2026 · PMID 42182820 · Full text
BACKGROUND: Wunderlich syndrome (WS) is a spontaneous, nontraumatic intrarenal or perirenal hemorrhage most commonly related to renal neoplasms, vascular disorders, infection, cyst rupture, or anticoagulation. Clinical s...
BACKGROUND: Wunderlich syndrome (WS) is a spontaneous, nontraumatic intrarenal or perirenal hemorrhage most commonly related to renal neoplasms, vascular disorders, infection, cyst rupture, or anticoagulation. Clinical severity ranges from self-limited bleeding to hemorrhagic shock. CASE: We report a 58-year-old woman with triple-negative myelofibrosis (MF) who was started on hydroxyurea (HU) 500 mg/day and low-dose acetylsalicylic acid (ASA). On Day 60, she presented with bilateral perirenal and intrarenal hemorrhage confirmed by contrast-enhanced abdominal computed tomography. ASA was discontinued and bleeding ceased spontaneously. One month later, she represented with recurrent bilateral hemorrhage without ASA exposure and marked neutrophilic leukocytosis. Concomitant purpuric skin lesions, positive antinuclear antibodies (ANA, 1:160), and low C3 levels raised suspicion for a HU-associated vasculitic process; HU was discontinued. Coagulation parameters at the time of bleeding (INR: 1.2, aPTT: 26.4 s, fibrinogen: 348 mg/dL, and D-dimer: 0.6 μg/mL) were not consistent with disseminated intravascular coagulation. Despite supportive management, the patient's condition deteriorated and she died shortly thereafter. The exact cause of death could not be definitively determined. CONCLUSION: To our knowledge, this is the first reported case of WS in a patient with MF receiving HU therapy. Clinicians should consider WS in HU-treated patients presenting with acute flank pain or hematuria and evaluate for potential vasculitic features.
Brain Abscess Following CPX-351 Treatment in a Patient With Acute Myeloid Leukemia.
Yamaga Y, Okazaki S, Sakuma Y … +2 more , Siraisi D, Nishiyama T
Case Rep Hematol · 2026 · PMID 42182819 · Full text
We describe a rare case of a brain abscess occurring during CPX-351 induction therapy for acute myeloid leukemia (AML). The patient experienced recurrent febrile neutropenia during the myelosuppression period and develop...
We describe a rare case of a brain abscess occurring during CPX-351 induction therapy for acute myeloid leukemia (AML). The patient experienced recurrent febrile neutropenia during the myelosuppression period and developed left-sided spatial neglect during hematologic recovery. Brain magnetic resonance imaging revealed a solitary abscess in the right parietal lobe. Burr hole drainage yielded species, and subsequent treatment with vancomycin and linezolid, followed by endoscopic abscess resection, led to gradual neurological recovery. Complete remission of AML was achieved, and consolidation therapy with venetoclax plus azacitidine was initiated. CPX-351 is associated with prolonged myelosuppression and relatively low gastrointestinal toxicity, which may reduce the risk of Gram-negative sepsis but increase susceptibility to Gram-positive infections, such as catheter-related bacteremia. Clinicians should consider the possibility of a brain abscess in patients presenting with neurological symptoms during AML treatment, as early diagnosis and prompt surgical and antimicrobial management are critical for favorable outcomes.
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