Feng X, Tao Y, Hu Q
… +3 more, Liu Y, Bao J, Jiang W
Case Rep Hematol
· 2024 · PMID 38440158
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Hairy cell leukemia (HCL) is an infrequent and persistent B-cell inert lymphoid leukemia. In this study, we present the case of a 71-year-old female patient with a previous diagnosis of variant HCL who experienced a seve...Hairy cell leukemia (HCL) is an infrequent and persistent B-cell inert lymphoid leukemia. In this study, we present the case of a 71-year-old female patient with a previous diagnosis of variant HCL who experienced a severe herpes zoster infection leading to an extensive skin eruption. The patient's initial diagnosis of HCL occurred 7 years ago, and she underwent treatment with cladribine, interferon, COP (cyclophosphamide, vincristine, and prednisone), benztropine tablets + clarithromycin dispersible, and ibrutinib. Immune disorders resulting from repeated prior chemotherapy and targeted therapy may potentially precipitate herpes zoster infection. Despite an initial two-week period of unresponsiveness to antivirals and nerve nutrition treatments, the introduction of topical Coptis liquid to the treatment regimen yielded significant efficacy. This case report underscores the potential of Chinese medicine as an adjunct to conventional antiviral therapy in the management of herpes zoster infection in immunocompromised patients. This treatment protocol has the potential to enhance efficacy, enhance quality of life, and serve as a more robust foundation for clinical diagnosis and improved treatments.
Case Rep Hematol
· 2024 · PMID 38434151
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Hodgkin lymphoma variant of Richter's transformation (HvRT) is a rare complication for patients with chronic lymphocytic leukemia (CLL), with an overall poor prognosis. We present the first known case series of patients...Hodgkin lymphoma variant of Richter's transformation (HvRT) is a rare complication for patients with chronic lymphocytic leukemia (CLL), with an overall poor prognosis. We present the first known case series of patients with HvRT treated with the combination of brentuximab vedotin, doxorubicin, vinblastine, and dacarbazine (A + AVD). In our series of 4 patients, two patients treated with A + AVD for HvRT had durable remissions of 40 and 42 months, while two patients had disease progression and ultimately died. Continued investigation into the optimal management for patients with HvRT is still needed.
Case Rep Hematol
· 2024 · PMID 38434150
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Human immunodeficiency virus (HIV)-associated lymphoma poses a high mortality risk despite antiretroviral therapy (ART). Although intermediate- or high-grade B-cell lymphomas are common, anaplastic large-cell lymphomas (...Human immunodeficiency virus (HIV)-associated lymphoma poses a high mortality risk despite antiretroviral therapy (ART). Although intermediate- or high-grade B-cell lymphomas are common, anaplastic large-cell lymphomas (ALCLs) are rare and seldom affect the central nervous system (CNS). Herein, we present a case of HIV-associated ALCL with isolated CNS involvement that occurred following the discontinuation of ART that was administered after treatment with brentuximab vedotin (BV)-which does not cross the blood-brain barrier. At the time of CNS recurrence, the patient's CD4 count was 9 cells/mm. This is the first report of CNS recurrence in HIV-associated ALCL. Considering the high risk of CNS relapse, we suggest initiating CNS prophylaxis in cases of HIV-associated ALCL, particularly in patients receiving CNS-impermeable agents such as BV.
Rieke DT, Schmalbrock LK, Ihlow J
… +5 more, Kleo K, von Brünneck AC, Nolte F, Keller U, Ochsenreither S
Case Rep Hematol
· 2024 · PMID 38213502
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Systemic mastocytosis is defined by the clonal proliferation of abnormal mast cells. The clinical course can range from indolent forms with normal life expectancy to advanced mast cell leukemia with dismal prognosis. An...Systemic mastocytosis is defined by the clonal proliferation of abnormal mast cells. The clinical course can range from indolent forms with normal life expectancy to advanced mast cell leukemia with dismal prognosis. An association with other diseases, including myeloproliferative neoplasia, has been described. We present a case of a 75-year patient with a history of cutaneous mastocytosis who was diagnosed with mast cell leukemia more than 9 years ago and did not receive treatment. The patient presented to our clinic with acute kidney failure because of renal extramedullary hematopoiesis. Bone marrow histopathology revealed extensive fibrosis and 50% infiltration by mast cells with a c D816V mutation. No mutations supporting primary myelofibrosis were identified. Treatment with midostaurin was started, and the patient was discharged after improvement of renal function. Here, we discuss diagnostic challenges between different forms of mast cell leukemia and overlaps with other hematological malignancies.
Krishnamurthy K, Choudhuri J, Ramesh KH
… +1 more, Wang Y
Case Rep Hematol
· 2023 · PMID 38170104
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Acute promyelocytic leukemia (APL) is characterized by the pathogenic driver fusion transcript PML-RARA resulting from the t(15;17) translocation. Early recognition of APL with prompt ATRA induction has a decisive impact...Acute promyelocytic leukemia (APL) is characterized by the pathogenic driver fusion transcript PML-RARA resulting from the t(15;17) translocation. Early recognition of APL with prompt ATRA induction has a decisive impact on the early death rate. The preliminary diagnosis of APL relies heavily on cytomorphology and flow cytometry. In APL with variant morphology, such as the microgranular variant, immunophenotype, especially the bright MPO positivity is the basis of diagnosis. Till date, only five cases of APL with reduced/absent MPO have been described in literature. The identification of MPO deficiency based on genetic testing would involve at the least a MPO gene scanning with NGS, followed by microarray to identify somatic uniparental disomy in heterozygotes. This testing is not only redundant given the scant clinical implications of heterozygous MPO deficiency but also time consuming. An easy way to identify background MPO deficiency confounding the immunophenotype of a myeloid neoplasm is the MPO expression in background neutrophils gated on the initial flow cytometry. A dim MPO in the background neutrophils, in the morphological setting of APL, can identify underlying MPO deficiency, clarifying the immunophenotypic ambiguity and thus establishing an unequivocal diagnosis as seen in the current case.
Case Rep Hematol
· 2023 · PMID 38146540
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In this case, we describe the potential risk of developing an infectious complication leading to a secondary malignancy after a short course of immunotherapy. We report a patient who presented with Epstein-Barr virus (EB...In this case, we describe the potential risk of developing an infectious complication leading to a secondary malignancy after a short course of immunotherapy. We report a patient who presented with Epstein-Barr virus (EBV) driven Hodgkin's lymphoma after treatment with a short course of daratumumab along with pomalidomide and dexamethasone for relapsed multiple myeloma. Although there have been limited documented cases of daratumumab treatment leading to EBV reactivation, in patients presenting with infectious symptoms or neutropenia on a daratumumab-based regimen, testing for EBV should not be overlooked.
Aldecoa KAT, Macaraeg CSL, Dadlani A
… +1 more, Yadlapalli S
Case Rep Hematol
· 2023 · PMID 38130705
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Ibrutinib is an oral, first-line, targeted therapy for chronic lymphocytic leukemia (CLL). Commonly reported adverse events are diarrhea, fatigue, and musculoskeletal pain, but rarely it has been associated with visual d...Ibrutinib is an oral, first-line, targeted therapy for chronic lymphocytic leukemia (CLL). Commonly reported adverse events are diarrhea, fatigue, and musculoskeletal pain, but rarely it has been associated with visual disturbances. Here, we present a rare case of spontaneous hyphema in a 60-year-old patient with a known diagnosis of CLL on ibrutinib treatment.
Kobayashi H, Tsutsumi H, Misaki Y
… +4 more, Maekawa T, Inoshita N, Kawamura M, Maseki N
Case Rep Hematol
· 2023 · PMID 38124780
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We report a case of FLT3-mutated APL who developed disease relapse despite all-trans retinoic acid (ATRA) + chemotherapy, and re-induction chemotherapy with arsenic trioxide (ATO) and high-dose (HD) cytarabine (Ara-C) th...We report a case of FLT3-mutated APL who developed disease relapse despite all-trans retinoic acid (ATRA) + chemotherapy, and re-induction chemotherapy with arsenic trioxide (ATO) and high-dose (HD) cytarabine (Ara-C) therapy failed to yield complete remission. Because the leukemic cells were resistant to all the aforementioned therapies, we started the patient on monotherapy with gilteritinib, a selective FLT3-inhibitor, as an alternative re-induction treatment option rather than further intensive chemotherapy. The patient showed complete hematologic remission in response to this therapy. This case serves as supporting evidence for the use of single-agent therapy with gilteritinib as a bridge to transplantation in patients with refractory -mutated APL.
Rossignon P, Grandjean F, Claessens A
… +1 more, Weynants N
Case Rep Hematol
· 2023 · PMID 38124779
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Acquired coagulopathies resulting from factor X deficiency are rare and typically associated with amyloidosis or plasma cell dyscrasia. Factor X plays a pivotal role in the coagulation cascade, converting prothrombin int...Acquired coagulopathies resulting from factor X deficiency are rare and typically associated with amyloidosis or plasma cell dyscrasia. Factor X plays a pivotal role in the coagulation cascade, converting prothrombin into thrombin and facilitating the formation of fibrinogen and thrombus. While its occurrence following common infections is extremely rare, isolated cases have been documented. We present a rare case of bleeding diathesis in a patient with community-acquired pneumonia, where prolonged activated partial thromboplastin time (aPTT) and prothrombin time (PT) led to the diagnosis of an infectious-triggered acquired circulating inhibitor targeting factor X. Prompt treatment with methylprednisolone effectively controlled the inhibitor without recurrence. This case report provides insights into the diagnostic strategies, differential algorithm, and therapeutic approaches for managing this rare coagulopathy.
Case Rep Hematol
· 2023 · PMID 38046988
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With increasing early and upfront use of rituximab and caplacizumab in the modern management of immune-mediated thrombotic thrombocytopenic purpura (iTTP), the risk of refractory disease is expected to decline. However,...With increasing early and upfront use of rituximab and caplacizumab in the modern management of immune-mediated thrombotic thrombocytopenic purpura (iTTP), the risk of refractory disease is expected to decline. However, despite the use of adequate initial therapy, a small subset of patients develop a refractory disease which is difficult to manage. Bortezomib has come to be known as a safe and effective treatment option for refractory iTTP, but its use in children is limited. Here, we describe the case of an adolescent patient with refractory iTTP who had a satisfactory and sustained response to the use of bortezomib.
Case Rep Hematol
· 2023 · PMID 38028985
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While the Epstein-Barr virus (EBV) is known to drive lymphomagenesis, it may rarely contribute to transformation of indolent lymphoma as well. Some EBV-related lymphomas represent a diagnostic challenge with important p...While the Epstein-Barr virus (EBV) is known to drive lymphomagenesis, it may rarely contribute to transformation of indolent lymphoma as well. Some EBV-related lymphomas represent a diagnostic challenge with important prognostic and therapeutic implications. We describe a case of follicular lymphoma (FL) transformation to both EBV + diffuse large B-cell lymphoma (DLBCL) and EBV + classic Hodgkin lymphoma (cHL), the latter of which was only identified retrospectively after selective outgrowth during DLBCL therapy. Finally, we describe successful salvage therapy with brentuximab vedotin plus nivolumab. This is the first known case of composite lymphoma with FL, EBV + DLBCL, and EBV + cHL within a single lymph node. The disease course highlights the importance of careful morphologic examination and comprehensive immunophenotypic characterization of EBV + lymphomas to ensure proper clinical care and underscores the potential for novel therapies currently under investigation. This trial is registered with NCT01671813.
Jhajj B, Henrie R, El-Khalidy Y
… +1 more, Moshref Razavi H
Case Rep Hematol
· 2023 · PMID 37946878
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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive hematologic malignancy which is associated with a distinctive morphologic appearance. However, the morphology is not specific, and diagnostic characte...Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is an aggressive hematologic malignancy which is associated with a distinctive morphologic appearance. However, the morphology is not specific, and diagnostic characterization requires integration of immunophenotypic and genetic testing. We herein report a case of a 35-year-old female patient who presented with worsening cytopenia. A bone marrow aspirate identified medium-sized blastic cells with perinuclear microvacuoles ("pearl neckless"). Occasional blasts demonstrated a "hand mirror" appearance. Tandem flow cytometry showed an atypical population of dim CD45 events with expression of CD4, CD56, CD117, CD123, and monocytic markers such as CD64. Fluorescence in situ hybridization (FISH) showed evidence of a KMT2A rearrangement with an unknown partner on chromosome 19. Expression of MPO and muramidase was present. The final diagnosis was acute monocytic leukemia (AMoL). Due to the overlapping features of acute myeloid leukemia and BPDCN, the 5 Edition of the World Health Organization (WHO) Classification of Haematolymphoid Tumours provides new criteria for the diagnosis of BPDCN. Our case highlights the utility of these criteria.
Jeffrey A, Coyle LA, Samaranayake D
… +3 more, Boyle T, Drummond J, Fernando SL
Case Rep Hematol
· 2023 · PMID 37886671
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Late-onset combined immunodeficiency (LOCID), considered now a subset of common variable immunodeficiency (CVID) disorders, is characterized by a predominantly T-cell immune defect. LOCID has a distinct phenotype from CV...Late-onset combined immunodeficiency (LOCID), considered now a subset of common variable immunodeficiency (CVID) disorders, is characterized by a predominantly T-cell immune defect. LOCID has a distinct phenotype from CVID with a greater risk of lymphoproliferative complications. As compared to the CVID cohort, LOCID patients also have increased rates of splenomegaly and granulomatous disease. We report a case of central nervous system (CNS) T-cell lymphoma in a 67-year-old male as the presenting manifestation of LOCID. The patient achieved a complete response to therapy after 4 cycles of MATRix (methotrexate, cytarabine, and thiotepa) and 2 cycles of ICE (etoposide, carboplatin, and ifosfamide) chemotherapy followed by CNS-directed autologous stem cell transplantation. Intravenous immunoglobulin replacement was commenced to address the underlying immunodeficiency. Pulmonary lesions consistent with a diagnosis of granulomatous and lymphocytic interstitial lung disease (GLILD) were identified as a second noninfectious complication of LOCID. The pulmonary lesions resolved after chemotherapy and immunoglobulin replacement. The patient remains well with no evidence of disease recurrence now more than 18 months after completion of therapy. This is the first reported case of T-cell lymphoma in an adult patient with LOCID. Further study is needed to elucidate the mechanisms of transformation of B- or T-cells to lymphoproliferation in primary immunodeficiency patients as well as research to inform evidence-based therapeutic strategies for this challenging cohort of patients.
Barnes M, Shklar V, Patel D
… +1 more, Staszewski H
Case Rep Hematol
· 2023 · PMID 37790742
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A 27-year-old female with a history of chronic sinusitis was referred for the evaluation of asymptomatic neutropenia. The differential demonstrated a mild neutropenia, which eventually resolved on subsequent evaluation....A 27-year-old female with a history of chronic sinusitis was referred for the evaluation of asymptomatic neutropenia. The differential demonstrated a mild neutropenia, which eventually resolved on subsequent evaluation. The liver and the spleen were not palpable. Peripheral flow cytometry was normal. Peripheral blood smear (PBS) demonstrated numerous Pelger-Huet anomalous neutrophils with characteristic "pince-nez" nuclei, without significant abnormalities in the other cell lines. Due to the benign clinical nature of hereditary PHA, a bone marrow biopsy is almost never required. However, our patient's persistent and worsening neutropenia was unusual for hereditary PHA, so a bone marrow biopsy was performed to rule out MDS and leukemia. Our patient's bone marrow smears showed dysplastic changes to other cell lines including the megakaryocytes and erythroid precursors. Due to our patient's young age and concern that she may have a more serious marrow disorder, genetic testing was pursued. Germline testing in the LBR gene revealed a heterozygous pathogenic mutation, namely, the PR57837.17 variant, confirming the diagnosis of hereditary disease. The bone marrow biopsy performed on our patient illustrates that the presence of dysplasia does not rule out hereditary PHA and further genetic testing should be done in the appropriate clinical scenario. This case was an atypical presentation of hereditary PHA with confounding morphological features that would typically classify the disease as an acquired or pseudo-PHA, hence acting as a Pseudo-Pseudo-Pelger-Huet Anomaly.
Case Rep Hematol
· 2023 · PMID 37746518
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Intravascular large B-cell lymphoma (IVBCL) is a very rare and aggressive subtype of extranodal diffuse large B-cell lymphoma (DLBCL) involving the growth of lymphoma cells within blood vessels of all organ types. We pre...Intravascular large B-cell lymphoma (IVBCL) is a very rare and aggressive subtype of extranodal diffuse large B-cell lymphoma (DLBCL) involving the growth of lymphoma cells within blood vessels of all organ types. We present the case of a 55-year-old North-African man with no prior history of neoplastic disease presenting with weight loss and an isolated splenomegaly. Investigations led to the diagnosis of this disease. To the best of our knowledge, this is the first case recorded in Africa. Through this article, we discuss this case and outline the common presentation, paraclinical investigations, and treatment options of IVBCL.
Saburi M, Sakata M, Maruyama R
… +7 more, Kodama Y, Takata H, Miyazaki Y, Kawano K, Wada J, Urabe S, Ohtsuka E
Case Rep Hematol
· 2023 · PMID 37662831
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A 69-year-old woman was diagnosed with acute myeloid leukemia (AML) with an FMS-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD) mutation. Complete remission (CR) was achieved after induction therapy, but AM...A 69-year-old woman was diagnosed with acute myeloid leukemia (AML) with an FMS-like tyrosine kinase 3-internal tandem duplication (FLT3-ITD) mutation. Complete remission (CR) was achieved after induction therapy, but AML resulted in a hematological relapse two months after the consolidation chemotherapy. Relapse was accompanied by multiple skin lesions that demonstrated leukemic cell infiltration as well as a drooping right eyelid with extroversion of the eye due to right oculomotor palsy. Gilteritinib was started as salvage therapy, and bone marrow blasts decreased to 0.8% after one month. Two months later, the eye symptoms improved, and the patient underwent cord blood transplantation (CBT). The skin lesions disappeared after the conditioning regimen, and the patient achieved CR status with complete donor chimerism at day 28. Gilteritinib was restarted as posttransplant maintenance therapy on day 53 of CBT. No adverse events other than mild hepatotoxicity were observed, and the patient was alive and in CR status, while continuing gilteritinib at one year and seven months after CBT. Bridging and posttransplant maintenance therapy with gilteritinib may be a promising therapeutic option for relapsed AML with the FLT3-ITD mutation in elderly patients.
Case Rep Hematol
· 2023 · PMID 37529087
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BACKGROUND: Mixed warm/cold autoimmune hemolytic anemia (AIHA) is a rare diagnostic entity with limited therapeutic options. Previous literature has described the diagnostic difficulty in this pathology and the limited r...BACKGROUND: Mixed warm/cold autoimmune hemolytic anemia (AIHA) is a rare diagnostic entity with limited therapeutic options. Previous literature has described the diagnostic difficulty in this pathology and the limited response rates to corticosteroids. Furthermore, there is limited evidence regarding the use of rituximab in this condition. METHODS: Alongside our case report, we conducted a scoping review of case reports/case series describing mixed AIHA, their treatment, and clinical outcomes since 2000. Inclusion criteria included a confirmed diagnosis of mixed AIHA (confirmed warm antibodies and cold agglutinins based on DAT). . We present a case of mixed AIHA in an 83-year-old female presenting with extensive, bilateral pulmonary embolisms and left renal vein thrombosis. The patient underwent extensive workup with no identifiable provoking etiology. Initial treatment involved prednisone therapy was transitioned to rituximab upon diagnosis of mixed AIHA. The patient demonstrated a mixed response with stable hemoglobin and transfusion independence; however, with persistently elevated hemolytic indices following completion of rituximab treatment. Our literature review identified 16 articles; two were excluded for unavailable clinical details. The most commonly associated conditions included autoimmune conditions ( = 5, 26%) and lymphoproliferative disorders ( = 3, 12%). The most common treatment involved corticosteroids; seven studies involved the use of rituximab. CONCLUSION: Mixed AIHA represents a complex diagnosis and optimal management is not well established. Consistent with our case, recent literature suggests a promising response to rituximab and a limited response to steroid treatment. Given the limited literature, additional studies are required to elucidate optimal management of this unique pathology.
Case Rep Hematol
· 2023 · PMID 37457315
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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and highly aggressive hematologic malignancy that arises from plasmacytoid dendritic cells. BPDCN typically presents with skin lesions and may involve periph...Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare and highly aggressive hematologic malignancy that arises from plasmacytoid dendritic cells. BPDCN typically presents with skin lesions and may involve peripheral blood, bone marrow, lymph nodes, or extranodal sites. It usually arises de novo, and some BPDCN cases are associated with or develop into myeloid neoplasms. Here, we report a case of a 57-year-old female presenting with cervical lymphadenopathy and skin rashes during the COVID-19 pandemic in 2021 following multiple types of postmastectomy therapy for breast cancer. The patient was ultimately diagnosed with BPCDN by lymph node biopsy. To the best of our knowledge, this is the first case report of BPDCN occurring postchemotherapy of breast cancer.
Case Rep Hematol
· 2023 · PMID 37434656
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The gene fusion resulting from t(12;22)(p13;q12) has been rarely reported in myeloid neoplasms. We describe a 69-year-old male with newly diagnosed acute myeloid leukemia (AML) with erythroid differentiation and t(12;22...The gene fusion resulting from t(12;22)(p13;q12) has been rarely reported in myeloid neoplasms. We describe a 69-year-old male with newly diagnosed acute myeloid leukemia (AML) with erythroid differentiation and t(12;22)(p13;q12) demonstrated by conventional chromosome studies. Subsequent fluorescence hybridization studies demonstrated a balanced gene rearrangement (at 12p13). To further characterize this translocation, whole-genome sequencing was performed which confirmed t(12;22) with breakpoints involving the and genes. Herein, we describe our case and review the literature to summarize the clinical and laboratory findings in patients with this rare but recurrent gene fusion observed in myeloid neoplasms. Importantly, this case expands the clinical spectrum associated with the gene fusion to include AML with erythroid differentiation. Lastly, this case demonstrates the importance of moving toward more comprehensive molecular testing to fully characterize the driver events in neoplastic genomes.
Thirugnanasambandam RP, Maraikayar FM, Liu M
… +2 more, Elbashir K, Muthu J
Case Rep Hematol
· 2023 · PMID 37434655
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Fat embolization syndrome (FES) is often seen as a complication of fractures and has been known to cause respiratory failure, rashes of the skin, thrombocytopenia, and neurological damage. Nontraumatic FES is uncommon an...Fat embolization syndrome (FES) is often seen as a complication of fractures and has been known to cause respiratory failure, rashes of the skin, thrombocytopenia, and neurological damage. Nontraumatic FES is uncommon and occurs due to bone marrow necrosis. Vaso-occlusive crisis in sickle cell patients secondary to steroid therapy is a rare entity and not widely acknowledged. We report a case of FES secondary to steroid therapy administered for a patient with intractable migraine. FES is an uncommon yet serious complication that occurs due to bone marrow necrosis and is usually associated with increased mortality or damaging neurologic sequelae for the surviving patient. Our patient was initially admitted for intractable migraine and worked up to rule out any acute emergency conditions. She was then given steroids for her migraine which did not subside with the initial treatment. Her condition worsened, and she developed respiratory failure along with altered mental status requiring care in the intensive care unit (ICU). Imaging studies showed microhemorrhages throughout the cerebral hemispheres, brainstem, and cerebellum. The imaging of her lungs confirmed severe acute chest syndrome. The patient also had hepatocellular and renal injuries indicative of multiorgan failure. The patient was treated with a red cell exchange transfusion (RBCx) leading to an almost complete recovery in a few days. The patient, however, had residual neurological sequelae with the presence of numb chin syndrome (NCS). This report thus highlights the need to recognize potential multiorgan failure secondary to steroid treatment and the importance of initiating treatment with red cell exchange transfusions to decrease the risk of such complications secondary to steroids.