Einarsdottir S, Orrsjö G, von Bahr L
… +2 more, Staffas A, Fogelstrand L
Case Rep Hematol
· 2025 · PMID 40567444
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Hypereosinophilia presents a significant clinical challenge. We describe a case of severe, rapidly progressing hypereosinophilia, with the white blood cell count increasing from 40,000/μL to over 130,000/μL within days,...Hypereosinophilia presents a significant clinical challenge. We describe a case of severe, rapidly progressing hypereosinophilia, with the white blood cell count increasing from 40,000/μL to over 130,000/μL within days, and 70% eosinophils on differential count. The patient initially presented with diffuse symptoms but developed eosinophilic myocarditis during hospitalization. Targeted next-generation sequencing identified a mutation in and according to the WHO 5 edition criteria, the patient was diagnosed with acute myeloid leukemia (AML) with mutation. Whole genome and transcriptome sequencing revealed a concurrent fusion ::. This fusion has been previously described in myeloid diseases with eosinophilia. Despite initial deep response to AML treatment, reaching MRD-negativity for , the patient relapsed shortly after stem cell transplantation and died.
Arabi S, Vardell V, Hanley T
… +3 more, Florell S, Halwani A, Lim M
Case Rep Hematol
· 2025 · PMID 40452922
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Primary cutaneous gamma-delta T-cell lymphoma (PCGD-TCL) is a very rare subtype of cutaneous T-cell lymphoma. We report the case of a young Polynesian male who presented with fever and an abdominal wall rash and highligh...Primary cutaneous gamma-delta T-cell lymphoma (PCGD-TCL) is a very rare subtype of cutaneous T-cell lymphoma. We report the case of a young Polynesian male who presented with fever and an abdominal wall rash and highlight the workup leading to the diagnosis of PCGD-TCL. As PCGD-TCL is rare and mimics other medical conditions, its diagnosis requires a high index of suspicion and can be challenging. Hemophagocytic lymphohistiocytosis (HLH) occurs with PCGD-TCL and can be a marker of more invasive disease. There are no well-defined treatment guidelines, but the most common treatment approach is anthracycline-based multiagent chemotherapy followed by allogeneic stem cell transplant. Targeted therapies are being increasingly used as well. Prognosis remains poor and 5-year survival is < 20%, particularly in more invasive disease. We highlight how this patient's demographic varies from the published literature and discuss some unique particulars of the diagnostic evaluation and treatment, especially in the presence of concurrent HLH.
Case Rep Hematol
· 2025 · PMID 40433229
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This case report describes a 17-year-old female patient who initially presented with vaginal bleeding, weight loss, and nonspecific symptoms, which led to the diagnosis of B-cell acute lymphoblastic leukemia (B-ALL). Thi...This case report describes a 17-year-old female patient who initially presented with vaginal bleeding, weight loss, and nonspecific symptoms, which led to the diagnosis of B-cell acute lymphoblastic leukemia (B-ALL). This unusual presentation highlights the importance of considering hematological malignancies in patients with atypical symptoms. The patient, married for 2 weeks, experienced vaginal bleeding following her first sexual intercourse, which did not resolve spontaneously. She also reported a 6 kg weight loss over the past 3-4 months, hair loss, and a history of dysmenorrhea and an ovarian cyst detected 2 years prior. Laboratory investigations revealed leukocytosis (WBC: 16,500/μL), anemia (Hb: 11.4 g/dL), and thrombocytopenia (Plt: 44,000/μL). Bone marrow aspiration (BMA) and flow cytometry confirmed the diagnosis of B-ALL, revealing a high percentage of atypical lymphoid cells. This case underscores the rarity of diagnosing hematological malignancies in patients with vaginal bleeding. The patient's symptoms, including weight loss and thrombocytopenia, should have prompted a more comprehensive evaluation. Early recognition of B-ALL is crucial as prompt treatment significantly improves outcomes. The patient was started on prednisolone and alkalinized fluids, and her condition was closely monitored. Vaginal bleeding in young patients should not be dismissed as a minor issue, especially when accompanied by other systemic symptoms like weight loss and thrombocytopenia. Early diagnosis of B-ALL in such cases can lead to better management and prognosis.
Russeth TE, Luong A, Liu M
… +2 more, Shah M, Desai N
Case Rep Hematol
· 2025 · PMID 40421437
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Thrombocytosis is commonly seen in patients with iron deficiency anemia and often normalizes following iron supplementation. Thrombocytopenia with iron deficiency anemia is a less common occurrence that can be seen in se...Thrombocytosis is commonly seen in patients with iron deficiency anemia and often normalizes following iron supplementation. Thrombocytopenia with iron deficiency anemia is a less common occurrence that can be seen in severe cases. This phenomenon is well documented in the pediatric population secondary to nutritional deficiency but is underreported in the adult population. Similarly, thrombocytopenia resolves following iron supplementation but the mechanism behind this and why select patients are affected is not well understood. This case report describes a young woman with menorrhagia who was found to have iron deficiency anemia and severe thrombocytopenia with resolution following intravenous iron.
Miranda Pallarés MJ, Álvaro Naranjo T, Vidal Rodriguez A
… +1 more, Martínez Madueño F
Case Rep Hematol
· 2025 · PMID 40416903
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Langerhans cell histiocytosis (LCH) in adults is a rare condition. The disease presents with focal or multifocal involvement of a single organ/system or focal or disseminated multisystem disease. Involvement of the centr...Langerhans cell histiocytosis (LCH) in adults is a rare condition. The disease presents with focal or multifocal involvement of a single organ/system or focal or disseminated multisystem disease. Involvement of the central nervous system (CNS) is also infrequent, with diabetes insipidus as a common manifestation of posterior pituitary lesions. Biopsy-proven diagnosis with the observation of characteristic Langerhans cells infiltrate with positive immunohistochemistry of S100 protein, CD1a, and CD68 cells. The patient presented generalized lymphadenopathy and was diagnosed with low-risk single-system LCH-based distinctive pathological findings in a lymph node biopsy. During the disease, CNS involvement was documented and the patient received different sequential therapeutic schemes, achieving complete remission that has been maintained for 8 years. The prolonged duration of remission with disappearance of lymphadenopathy and CNS lesions in an adult patient with LCH is an unusual clinical observation.
Case Rep Hematol
· 2024 · PMID 39758837
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We present a rare case of pseudohyponatremia in a 20-year-old male patient with adult T-cell acute lymphoblastic leukemia (ATLL). The patient was admitted for a mediastinal mass with superior vena cava syndrome and was r...We present a rare case of pseudohyponatremia in a 20-year-old male patient with adult T-cell acute lymphoblastic leukemia (ATLL). The patient was admitted for a mediastinal mass with superior vena cava syndrome and was receiving pegaspargase therapy. The pseudohyponatremia was found to be secondary to hypertriglyceridemia associated with the pegaspargase treatment. In this case report, we discuss the important considerations in the management of adult ATLL patients receiving pegaspargase therapy, and the specific approaches taken to care for the patient described in this case.
Crymes A, Evans MG, Jeyakumar D
… +3 more, Lou JJ, Zhao X, Rezk SA
Case Rep Hematol
· 2024 · PMID 39734743
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Chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood monocytosis and bone marrow dysplasia. In approximately one-fourth of cases, CMML can demonstrate...Chronic myelomonocytic leukemia (CMML) is a myelodysplastic/myeloproliferative neoplasm characterized by peripheral blood monocytosis and bone marrow dysplasia. In approximately one-fourth of cases, CMML can demonstrate progression to acute myeloid leukemia (AML), referred to as AML ex CMML. We present a 58-year-old woman with a past medical history of idiopathic thrombocytopenic purpura (ITP) who demonstrated 24% bone marrow blasts on a repeat biopsy obtained two years after being diagnosed with CMML. By the flow cytometric analysis, the blasts expressed partial CD34, CD13, CD117, partial MPO, and partial CD123 with coexpression of the T-lymphoid markers CD2, CD5, CD7, partial CD4, cytoplasmic CD3, partial cytoplasmic TDT, and CD38, suggestive of AML with rare mixed myeloid/T-cell phenotype. Treatment with various agents including decitabine, cytarabine, daunorubicin, etoposide, and venetoclax, and two experimental bromodomain and extraterminal (BET) inhibitors did not produce sustained remissions, and the patient eventually succumbed to her disease. T-cell phenotype is an exceedingly rare feature of AML ex CMML, and whether this unique differentiation pathway contributed to the aggressive disease course remains unclear. ClinicalTrials.gov identifier: NCT02543879, NCT03360006.
Case Rep Hematol
· 2024 · PMID 39655186
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Pancytopenia is characterized by a decrease in all three types of blood cells. Instead of being a standalone disease, it acts as a common outcome resulting from various factors, including infections, autoimmune disorders...Pancytopenia is characterized by a decrease in all three types of blood cells. Instead of being a standalone disease, it acts as a common outcome resulting from various factors, including infections, autoimmune disorders, genetic issues, nutritional deficiencies, and malignancies. Pinpointing the root cause of pancytopenia poses a challenge but is essential for devising an effective treatment plan and predicting the likely prognosis. Vitamin B12 deficiency is a common cause of megaloblastic anemia, pancytopenia, and various neuropsychiatric symptoms. However, diagnosing vitamin B12 deficiency lacks a definitive gold standard. We present two cases where patients initially exhibited pancytopenia with seemingly normal vitamin B12 levels. Based on a bone marrow biopsy, they were initially diagnosed with myelodysplastic syndrome (MDS). Subsequent investigations revealed elevated serum methylmalonic acid (MMA) levels, leading to a revised diagnosis of vitamin B12 deficiency. Both patients showed positive responses to adequate vitamin B12 supplementation. Our case series highlights the importance of ruling out alternative causes of dysplasia in MDS when solely morphological abnormalities are observed on a bone marrow biopsy. It also underscores the crucial aspect of assessing MMA and homocysteine levels in individuals with normal vitamin B12 levels when there is a high clinical suspicion of B12 deficiency.
Deshpande A, Rudzki Z, Bhat J
… +3 more, Pugh M, Rose S, Paneesha S
Case Rep Hematol
· 2024 · PMID 39649725
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The unique histiocytic entity of indeterminate dendritic cell tumor (IDCT) is known to cause diagnostic conundrum and treatment dilemmas with no published consensus on either. We report a rare case of cutaneous IDCT with...The unique histiocytic entity of indeterminate dendritic cell tumor (IDCT) is known to cause diagnostic conundrum and treatment dilemmas with no published consensus on either. We report a rare case of cutaneous IDCT with ETV3::NOAC2 rearrangement providing further evidence to its association with this condition. With its ease of administration and minimal side effects, PUVA therapy can be successfully used to treat cutaneous forms of IDCT.
Medawar G, Sakalabaktula K, Magri J
… +2 more, Rinker E, Baratam P
Case Rep Hematol
· 2024 · PMID 39649724
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Systemic mastocytosis (SM) is a rare hematologic disorder characterized by clonal proliferation of mast cells in the bone marrow and/or other organs. SM-associated hematologic neoplasm (SM-AHN) is one of the advanced SM...Systemic mastocytosis (SM) is a rare hematologic disorder characterized by clonal proliferation of mast cells in the bone marrow and/or other organs. SM-associated hematologic neoplasm (SM-AHN) is one of the advanced SM variants that usually confer a poor prognosis. We present a case of a 75-year-old female patient with SM-AHN, specifically myelodysplastic syndrome (MDS), that harbored a unique KIT mutation KIT V560D, not previously described in the literature in this setting. We describe the clinical course and the outcome with the use of avapritinib, midostaurin, and decitabine-cedazuridine. ClinicalTrials.gov identifier: NCT00782067.
Case Rep Hematol
· 2024 · PMID 39624635
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We describe the case of a chronic myeloid leukemia (CML) patient with a rare atypical e18a2 :: transcript. The generation of this transcript was explained by a detailed molecular analysis, including the identification of...We describe the case of a chronic myeloid leukemia (CML) patient with a rare atypical e18a2 :: transcript. The generation of this transcript was explained by a detailed molecular analysis, including the identification of both chromosomal breakpoints (:: on der(22) and :: on der(9)) at the genomic level. The use of a cryptic splice site in intron 1 of led to the generation of an in-frame :: fusion transcript. The diagnostic difficulties caused by this atypical variant and its implications for diagnostic routine are discussed.
Pisarcik MJ, Oswalt CJ, Carlsen ED
… +1 more, Horwitz ME
Case Rep Hematol
· 2024 · PMID 39588525
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We describe the case of a 27-year-old male, previously healthy though with a social history notable for recreational cocaine use, who developed bone marrow failure due to aplastic anemia (AA) with associated serous fat a...We describe the case of a 27-year-old male, previously healthy though with a social history notable for recreational cocaine use, who developed bone marrow failure due to aplastic anemia (AA) with associated serous fat atrophy (SFA). After the SFA was corrected with nutritional supplementation, the patient underwent successful allogeneic, haploidentical stem cell transplantation with a regimen designed to treat AA. To our knowledge, this is the first case of hematopoietic stem cell transplantation (HSCT) performed following correction of SFA. Herein we propose our novel hypothesis that SFA, once resolved, is not a contraindication to stem cell transplantation, which we believe adds valuable insight toward an improved understanding of nutrition's role in HSCT. Additionally, the AA is thought to be toxin-induced and specifically levamisole-mediated after exposure to levamisole-adulterated cocaine. We highlight potential connections between levamisole, AA, and SFA and call for further efforts to understand these relationships-especially as the use of levamisole as a cocaine adulterant continues to rise across the globe.
Case Rep Hematol
· 2024 · PMID 39583986
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The coexistence of chronic myeloid leukemia (CML) and chronic lymphocytic leukemia (CLL) in the same patient is exceedingly rare, with only a few cases reported in the literature. Here, we report a patient with CML who,...The coexistence of chronic myeloid leukemia (CML) and chronic lymphocytic leukemia (CLL) in the same patient is exceedingly rare, with only a few cases reported in the literature. Here, we report a patient with CML who, having achieved a major molecular response with imatinib, subsequently developed CLL, which necessitated the concomitant administration of ibrutinib.
Yoshida S, Semba Y, Takashima S
… +5 more, Kadowaki M, Takase K, Maeda T, Akashi K, Iwasaki H
Case Rep Hematol
· 2024 · PMID 39526222
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According to the 2016 World Health Organization classification, a germline DEAD-box helicase 41 gene () mutation with myeloid neoplasms has been newly classified. The clinical course of acute myeloid leukemia (AML) with...According to the 2016 World Health Organization classification, a germline DEAD-box helicase 41 gene () mutation with myeloid neoplasms has been newly classified. The clinical course of acute myeloid leukemia (AML) with a germline mutation has not yet been clarified. In the early phase, this condition is slowly progressive, the rate of remission induction is high, and the prognosis is good. On the other hand, in the late phase, the gradual relapse rate increases and the ultimate prognosis can be poor. Currently, clear guidance on the indication for allogeneic hematopoietic stem cell transplantation (allogeneic HSCT) for AML with a germline mutation has not been yet provided. However, we consider that allogeneic HSCT should be performed in patients who are eligible for allogeneic HSCT for germline mutations in AML to overcome poor relapse-free survival, referring to previous relevant papers. We report a 49-year-old patient who had pancytopenia and was finally diagnosed with a germline mutation and AML. We decided to perform allogeneic HSCT. On day 68, he was complicated by acute graft versus host disease, gut stage 1, grade II, and was started on prednisolone 0.2 mg/kg. He recovered quickly and has been currently alive without symptoms of graft versus host disease for almost 2 years. Regarding donor search for allogeneic HSCT for AML with a germline mutation, it is essential to ensure that the donor must be negative for this mutation when the donor is a family donor. If the related donor has a positive mutation, which can cause the development of donor-derived leukemia, allogeneic HSCT should performed from an unrelated donor.
Boumeghar K, Daliphard S, Buchbinder N
… +7 more, Boutet C, Penther D, Etancelin P, Bourgain J, Buchonnet G, Bera E, Bobée V
Case Rep Hematol
· 2024 · PMID 39479474
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Down syndrome (DS) is defined by an extra copy of chromosome 21 and confers an increased susceptibility to hematological disorders. Transient abnormal myelopoiesis (TAM) and myeloid-leukemia associated with Down syndrome...Down syndrome (DS) is defined by an extra copy of chromosome 21 and confers an increased susceptibility to hematological disorders. Transient abnormal myelopoiesis (TAM) and myeloid-leukemia associated with Down syndrome (ML-DS) are two conditions that need to be accurately diagnosed to provide appropriate management. Both TAM and ML-DS are characterized by proliferation of megakaryoblasts carrying a mutation in the GATA1 gene. Here, we report four cases with educational significance, highlighting typical diagnostic features that facilitate the differentiation between these two conditions, thereby assisting clinicians and medical laboratory professionals in effectively managing and monitoring these patients.
Wang CP, Malicki D, Thornburg CD
… +2 more, Martinez S, Yu JC
Case Rep Hematol
· 2024 · PMID 39345990
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A delayed hemolytic transfusion reaction (DHTR) is a potential complication for patients with sickle cell disease (SCD) who develop red blood cell (RBC) alloimmunization to foreign antigens from allogeneic transfusions,...A delayed hemolytic transfusion reaction (DHTR) is a potential complication for patients with sickle cell disease (SCD) who develop red blood cell (RBC) alloimmunization to foreign antigens from allogeneic transfusions, potentially resulting in life-threatening hemolytic anemia between 24 hours and 28 days after the transfusion. Guidelines have suggested obtaining an extended RBC antigen profile by genotyping in patients with SCD to provide increased accuracy for antigen matching. We present a pediatric patient with SCD and a rare RBC phenotype that was not identified by serology who developed DHTR after her second lifetime transfusion and highlight the potential advantages of molecular genotyping. She was successfully managed by transfusion with "least incompatible" packed RBCs and aggressive medical management per American Society of Hematology clinical guidelines. Molecular genotyping is advantageous over serologic phenotyping because it can provide additional antigen information, such as increased accuracy for C antigen determination and Fy antigen matching. Having RBC genotyping results on file for patients with SCD can facilitate care in two ways-by preventing alloimmunization with potential hemolytic transfusion reaction and by responding rapidly to request rare donors when complicating antibodies arise.
Raychaudhuri S, Dong ZM, Knowles S
… +1 more, Graf S
Case Rep Hematol
· 2024 · PMID 39290203
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EBV-positive primary nodal T-cell/NK cell lymphoma (TNKL) is a rare diagnosis with a poor prognosis. No relationship with follicular lymphoma (FL), classic Hodgkin lymphoma (cHL), or other non-Hodgkin lymphomas is establ...EBV-positive primary nodal T-cell/NK cell lymphoma (TNKL) is a rare diagnosis with a poor prognosis. No relationship with follicular lymphoma (FL), classic Hodgkin lymphoma (cHL), or other non-Hodgkin lymphomas is established. We describe a case of Epstein-Barr virus (EBV)-positive cHL and EBV-positive primary nodal TNKL in the background of an antecedent FL, with all 3 subtypes identified in a single lymph node biopsy from an immunocompetent patient. Intensive frontline therapy achieved only a temporary response, with subsequent rapid progression associated with hemophagocytic lymphohistiocytosis (HLH). We discuss the relationship of the three lymphoma subtypes and the potential roles of EBV and immune dysregulation as contributing factors to this previously undescribed composite lymphoma.
Vanheeswijck L, Tewari S, Dowse R
… +4 more, Potter N, Jovanovic J, Furness CL, Van Rijswijk E
Case Rep Hematol
· 2024 · PMID 39280986
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BACKGROUND: Lysine methyltransferase 2A () rearrangements are commonly found in juvenile acute myeloid leukaemia (AML). Although distinct diseases, there is a known clinical overlap between -rearranged AML and juvenile m...BACKGROUND: Lysine methyltransferase 2A () rearrangements are commonly found in juvenile acute myeloid leukaemia (AML). Although distinct diseases, there is a known clinical overlap between -rearranged AML and juvenile myelomonocytic leukaemia (JMML). Both occur in infancy or early childhood and present with abnormal monocytosis. . We report a case of a 20-month-old girl, who presented with lethargy, recurrent infections, bruising, and marked hepatosplenomegaly. JMML was suspected after initial work-up, revealing an abnormal monocytosis without blast excess on immunophenotyping. The additional cytogenetic and molecular diagnostics, revealing a rearrangement, was decisive for the confirmation of AML. CONCLUSION: This case highlights the challenges of diagnosing -rearranged monocytic AML and the importance of careful morphological assessment in partnership with cytogenetic and molecular diagnostics to distinguish between -rearranged AML and JMML. Moreover, the emerging role of molecular monitoring in AML is highlighted.
Nauffal M, Eng S, Lin A
… +5 more, Chan A, Mazzerella K, Giralt S, Perales MA, Gyurkocza B
Case Rep Hematol
· 2024 · PMID 39246802
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Isatuximab is an IgG1-derived monoclonal antibody against CD38 approved for the treatment of adult patients with multiple myeloma. Here we describe the successful treatment of a therapy-refractory pure red cell aplasia c...Isatuximab is an IgG1-derived monoclonal antibody against CD38 approved for the treatment of adult patients with multiple myeloma. Here we describe the successful treatment of a therapy-refractory pure red cell aplasia case following ABO-mismatched allogeneic stem cell transplantation with isatuximab. Our patient was a 75-year-old female with acute myeloid leukemia who received an HLA-B antigen mismatched, unrelated peripheral blood stem cell transplant with a major ABO incompatibility (blood group A+ in the donor and blood group O+ in the recipient). The patient developed persistent red cell aplasia and anti-A antibodies for more than 500 days from transplant. She received therapy with rituximab, bortezomib, prednisone, and darbepoetin alfa with partial to no response. After repeated insurance denials for daratumumab, isatuximab was obtained from the manufacturer through their CareASSIST program. Following the completion of 2 cycles of isatuximab (8 doses), significant and sustained red cell recovery was observed.
Don MD, Casiano C, Wang HY
… +3 more, Gorbounov M, Song W, Ball ED
Case Rep Hematol
· 2024 · PMID 39246801
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Richter transformation (RT) is a rare sequelae of chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL). The clonal relationship of the RT to the underlined CLL/SLL is an important prognostic factor as clon...Richter transformation (RT) is a rare sequelae of chronic lymphocytic leukemia (CLL)/small lymphocytic lymphoma (SLL). The clonal relationship of the RT to the underlined CLL/SLL is an important prognostic factor as clonally related RT has a worse prognosis than that of clonally unrelated RT. The development of more than one RT in the same patient is exceedingly rare and prior reports have shown cases consisting of RT to diffuse large B-cell lymphoma (DLBCL) and a subsequent or synchronous Hodgkin lymphoma. Here, we present a rare case of RT first to a clonally unrelated DLBCL and subsequently a clonally related DLBCL. Additionally, we retrospectively conducted next-generation sequencing studies of both RT's and found different mutational landscapes, including more clinically aggressive mutations identified in the clonally related RT. To our knowledge, this is the first reported case of clonally related and clonally unrelated RT, both of which are DLBCL, in the same patient.