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BACKGROUND: Plasmacytoma of the skull base is a rare manifestation of plasma cell neoplasm with only a few cases documented in literature involving young adults. Plasmacytoma can be an isolated solitary lesion or a secondary manifestation of multiple myeloma (MM). In this study, we report the clinical and radiological characteristics, management, and outcomes of patients under the age of 40 who presented with skull base plasmacytoma and associated neurological manifestations. Additionally, we share our experience in treating a rare case of skull base plasmacytoma diagnosed during pregnancy, in which the patient exhibited a favorable response to myeloma treatment initiated after delivery. CASE SERIES: Four patients were identified, comprising one pregnant female and three male patients, with a median age of 36 years (range 33-37 years). The main presenting symptoms were headache, dizziness, and cranial nerve palsy. All patients received underwent systemic myeloma therapy and radiotherapy with three patients also underwent autologous stem cell transplantation (ASCT). Notably, all patients achieved complete remission. CONCLUSION: Skull base plasmacytoma represents a rare manifestation of plasma cell neoplasms, underscoring the importance of considering it in the differential diagnosis of skull base lesions to ensure early intervention and avoid potential serious complications. Throughout our series, the cornerstone of therapy involved radiotherapy, systemic myeloma therapy, and ASCT, all of which elicited a favorable response in every case.
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Plasmacitoma , Neoplasias de la Base del Cráneo , Humanos , Masculino , Plasmacitoma/terapia , Plasmacitoma/patología , Plasmacitoma/diagnóstico , Adulto , Femenino , Neoplasias de la Base del Cráneo/patología , Neoplasias de la Base del Cráneo/terapia , Embarazo , Mieloma Múltiple/terapia , Mieloma Múltiple/patología , Mieloma Múltiple/diagnóstico , Trasplante Autólogo , Resultado del Tratamiento , Complicaciones Neoplásicas del Embarazo/patología , Complicaciones Neoplásicas del Embarazo/terapia , Complicaciones Neoplásicas del Embarazo/diagnóstico , Imagen por Resonancia MagnéticaRESUMEN
Acute lymphoblastic leukemia (ALL) poses a significant health challenge, particularly in pediatric cases, requiring precise and rapid diagnostic approaches. This comprehensive review explores the transformative capacity of deep learning (DL) in enhancing ALL diagnosis and classification, focusing on bone marrow image analysis. Examining ten studies conducted between 2013 and 2023 across various countries, including India, China, KSA, and Mexico, the synthesis underscores the adaptability and proficiency of DL methodologies in detecting leukemia. Innovative DL models, notably Convolutional Neural Networks (CNNs) with Cat-Boosting, XG-Boosting, and Transfer Learning techniques, demonstrate notable approaches. Some models achieve outstanding accuracy, with one CNN reaching 100% in cancer cell classification. The incorporation of novel algorithms like Cat-Swarm Optimization and specialized CNN architectures contributes to superior classification accuracy. Performance metrics highlight these achievements, with models consistently outperforming traditional diagnostic methods. For instance, a CNN with Cat-Boosting attains 100% accuracy, while others hover around 99%, showcasing DL models' robustness in ALL diagnosis. Despite acknowledged challenges, such as the need for larger and more diverse datasets, these findings underscore DL's transformative potential in reshaping leukemia diagnostics. The high numerical accuracies accentuate a promising trajectory toward more efficient and accurate ALL diagnosis in clinical settings, prompting ongoing research to address challenges and refine DL models for optimal clinical integration.
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Langerhans cell histiocytosis (LCH) is a rare neoplastic disease characterized by infiltration of histiocytes and dendritic cells into body organs. While treatment is better established in pediatrics, there is still no consensus on therapy in the adult population. Imatinib has shown promising results in some case reports and a small clinical trial. We present here a fifty-nine-year-old patient with LCH in the lung, liver, and bone who responded well to an imatinib dose of 100 mg daily. Her symptoms improved within 3 months of treatment, and subsequent positron emission tomography-computed tomography (PET/CT) showed resolution of 18F-fluorodeoxyglucose (FDG)-avid lesions.
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Gordonia is a rarely reported organism causing central line-associated bloodstream infection (CLABSI). This article reports an acute myeloid leukemia (AML) case in which the patient developed febrile neutropenia and was later found to have Gordonia bronchialis (G. bronchialis) CLABSI. The patient received a two-week ceftriaxone regimen, based on susceptibility. The microbiologic diagnosis of this organism is considered challenging due to its resemblance with other organisms; however, more sophisticated methods of diagnosis (such as gene sequencing) can aid in differentiation.
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Chronic myeloid leukemia (CML) is a myeloproliferative disorder diagnosed by demonstrating the Philadelphia chromosome (Ph) or the BCR-ABL fusion gene. Tyrosine kinase inhibitors (TKIs) are the standard of therapy. There are increasing reports of hepatitis B virus reactivation (HBVr) in patients on this treatment. We report a case of a 46-year-old male patient diagnosed to have CML in the chronic phase and resolved hepatitis B infection. He was treated with imatinib as upfront therapy for CML and with lamivudine as prophylaxis against HBVr. The patient tolerated both treatments well with no adverse effects. The aim is to address the deficiencies in the literature in regard to managing these patients, prevention, and follow-up.
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Lymphomas are presently categorized according to their origin from B or T lymphocytes. The co-expression of CD3 in B-cell lymphomas or CD20 in T-cell lymphomas has been rarely reported. Immature and less often mature lymphomas may incorporate the rearrangements of both B- and T-cell antigen receptor genes (dual genotype or bigenotype). Lymphoma cells with a sole genotype hardly concurrently express both B- and T-cell markers (biphenotypic lymphomas). We describe a 63-year-old female who was presented with obstructive jaundice and epigastric pain of 10 days. Initial CBC revealed 43×103/µL white blood cells, 11.2 g/dL hemoglobin, and 88x103/µL platelets. CT abdomen revealed hepatomegaly and suspected pancreatic mass with large retroperitoneal lymph nodal mass. Peripheral smear showed 56% lymphoid cells with blast morphology. The bone marrow (BM) aspirate smear was infiltrated by 83% immature-looking cells. BM biopsy showed interstitial to diffuse extensive infiltration by primitive-looking cells, positive for pan-B-cell antigens CD20, CD79, and PAX5 as well as the T-cell antigen CD4, CD5, CD3, while negative for all immaturity markers (CD34, TdT, and CD1a). In situ hybridization for Epstein-Barr virus (EBV)-encoded small RNA (EBER) was negative. Flow cytometry on BM aspirate showed an abnormal population (50%) expressing the B-cell antigens (CD19, CD20, CD79, CD22) and CD10, and showed lambda light chain restriction as well as the T-cell antigens cCD3 and CD4 with partial CD5. The analysis showed, also, another abnormal population of lambda restricted monotypic B cells (8%) with dimmer CD45 (blast gate) and showed the same immunophenotype (expressing the B-cell antigens), but negative for CD10, cCD3, CD5, and CD4. Conventional cytogenetic revealed complex karyotype. Molecular studies revealed rearrangements of the immunoglobulin heavy chain region consistent with a clonal B-cell population. TCR gene rearrangement analysis was equivocal concerning clonality but was not conclusive for clonal T-cell disease. Our final diagnosis was peripheral blood and BM involvement by EBV-negative high-grade lymphoid neoplasm (in leukemic phase with blast morphology) and an ambiguous immunophenotype with a differential diagnosis that may include the rare entity of bigenotypic lymphoma or an unusual case of high-grade B-cell lymphoma with aberrant expression of T-cell markers (biphenotypic lymphomas).
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T-cell large granular lymphocytic leukemia is characterized by clonal expansion of a CD3+/CD57+ subpopulation, which are typically CD8+ positive cytotoxic T- cells, and can only be diagnosed if there is a persistent, greater than 6 months, elevation of LGL in the blood (usually 2-20 × 109/L), in the absence of an identifiable cause. T-LGLL has been associated with reactive conditions such as autoimmune diseases and viral infections and has also been reported in association with hematologic and non-hematologic malignancies. We report a case of asymptomatic CD4/CD8 double-positive T-LGLL. Flow cytometry on peripheral blood revealed a subpopulation of CD4/CD8 double-positive T cells expressing CD57 and cTIA. Clonality was established by flow cytometric analysis of T-cell receptor V(â) region repertoire which showed that >70% of the cells failed to express any of the tested V(â) regions. Clonality was further confirmed by PCR with the detection of clonal TCR beta and TCR gamma gene rearrangements. Six months later, she presented with persistent lower back pain and diagnosed with IgG kappa multiple myeloma. CD4/CD8 double-positive T-large granular leukemia is the first case reported in the literature. This rare phenotype is either underreported or a truly rare clinical entity. More studies are warranted to characterize the pathogenesis and clinical characteristics of this group of patients and to further assess the relationship between multiple myeloma and T-LGLL as a cause-and-effect relationship or simply related to the time at which diagnosis has been made.
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Primary bone lymphoma (PBL) is a peculiar extranodal presentation of non-Hodgkin's lymphoma. Primary bone diffuse large B-cell lymphoma (DLBCL) is the most common pathological type, comprising about 80% of PBL. The diagnosis of PBL depends on the combined clinical examination and imaging studies and is confirmed with immunohistochemical examination. Due to the rarity of this disease, more relative studies and case reports are needed to provide insight into this obscure lymphoproliferative malignancy. Here, we report one rare case of primary bone DLBCL involving the axial skeleton in a 37-year-old female.
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BACKGROUND Numb chin syndrome is a rare and under diagnosed neuropathy of the inferior alveolar branch of the trigeminal nerve usually causing a lower lip and chin anesthesia or paresthesia. The syndrome is commonly associated with broad-spectrum malignant and non-malignant conditions. CASE REPORT Here we report a case of a 30-year-old male who presented with numb chin syndrome in the form of jaw pain, paresthesia, and hypoesthesia of the mental area as the presenting symptoms of acute of myeloid leukemia with t(8;21) treated with (3+7) protocol (3 days anthracycline+7 days cytarabine). The pain and paresthesia improved but hypothesia persisted. CONCLUSIONS Acute myeloid leukemia is one of the most serious causes of numb chin syndrome which should not be overlooked.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Mentón , Hipoestesia/tratamiento farmacológico , Leucemia Mieloide Aguda/tratamiento farmacológico , Parestesia/tratamiento farmacológico , Adulto , Humanos , Masculino , SíndromeRESUMEN
We report a rare case of hypercalcemia and acute pancreatitis in a subject with acute promyelocytic leukemia (APL) and pulmonary tuberculosis, during all-trans-retinoic acid (ATRA) treatment. Both associated complications were potentially due to several causes. A careful monitoring and exclusion of all causative factors must be addressed. Further research is necessary to improve our understanding of risk factors for these complications in patients with (APL). Studying these patterns may help us to improve outcomes for all children and young adults with hematologic malignancies.
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Hipercalcemia/etiología , Leucemia Promielocítica Aguda/complicaciones , Pancreatitis/etiología , Tuberculosis Pulmonar/complicaciones , Enfermedad Aguda , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Asparaginasa/administración & dosificación , Asparaginasa/efectos adversos , Causalidad , Neutropenia Febril/inducido químicamente , Humanos , Leucemia Promielocítica Aguda/tratamiento farmacológico , Masculino , Mercaptopurina/administración & dosificación , Mercaptopurina/efectos adversos , Metotrexato/administración & dosificación , Metotrexato/efectos adversos , Persona de Mediana Edad , Modelos Biológicos , Derrame Pleural/etiología , Prednisona/administración & dosificación , Prednisona/efectos adversos , Aspergilosis Pulmonar/complicaciones , Factores de Riesgo , Tretinoina/administración & dosificación , Tretinoina/efectos adversos , Vincristina/administración & dosificación , Vincristina/efectos adversosRESUMEN
We present a rather uncommon side effect observed in a 20-year-old man with acute promyelocytic leukemia during treatment with ATRA. He developed a high platelet counts reaching up to 1655×109/L on day 29 of ATRA treatment, and started to recover spontaneously on day 33 of treatment, without any change in ATRA, or adding any cytoreduction therapy. No complications associated with thrombocytosis were observed. IL-6 seems to play an important role in the pathogenesis of the thrombocytosis induced by ATRA. However, it is unclear what are the precipitating factors for this rare phenomenon and whether it is caused by certain predisposing factors that might be related to patient's, disease pathogenesis or other unknown factors.
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Leucemia Promielocítica Aguda/tratamiento farmacológico , Trombocitosis/inducido químicamente , Tretinoina/efectos adversos , Médula Ósea/patología , Equimosis/etiología , Humanos , Interleucina-6/sangre , Leucemia Promielocítica Aguda/sangre , Leucemia Promielocítica Aguda/patología , Masculino , Tretinoina/administración & dosificación , Adulto JovenRESUMEN
Chronic Myeloid Leukemia (CML) is a clonal myeloproliferative neoplasm (MPN) characterized by the presence of a reciprocal translocation between the long arms of chromosomes 9 and 22, t(9;22)(q34:q11), resulting in fusion of the break point cluster region (BCR) with the ABL gene, which forms an oncogene, the transcript of which is an oncoprotein with a tyrosine kinase function. In the great majority of CML; BCR/ABL1 is cytogenetically visualized as t(9;22); giving rise to the Ph chromosome, harboring the chimeric gene. Cryptic or masked translocations occur in 2-10% patients with no evidence for the BCR/ABL rearrangement by conventional cytogenetics but are positive by Fluorescence in Situ Hybridization (FISH) and/or reverse transcriptase polymerase chain reaction (RT-PCR). These patients are described as Philadelphia negative (Ph negative) BCR/ABL1- positive CML with the chimeric gene present on the derivative chromosome 22, as in most CML cases, or alternatively on the derivative 9 in rare occasions. In the majority of cases, CML is diagnosed in the chronic phase; it is less frequently diagnosed in accelerated crises, and occasionally, its initial presentation is as acute leukemia. The prevalence of extramedullary blast phase (BP) has been reported to be 7-17% in patients with BP. Surprisingly, no extra-medullary blast crises of B- lymphoid lineage have been reported before among cases of CML as the initial presentation. We report an adult male diagnosed as CML- chronic phase when he was shortly presented with treatment-naive extramedullary B-lymphoid blast crises involving multiple lymph nodes, with no features of acceleration or blast crises in the peripheral blood (PB) and bone marrow (BM). In addition the patient had variant/cryptic Philadelphia translocation. This is the first report of CML, on the best of our knowledge, with extramedullary B-lymphoid blast phase, as initial presentation, that showed a cryptic Ph translocation.
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Linfocitos B/patología , Crisis Blástica/genética , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Cromosoma Filadelfia , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Biomarcadores de Tumor , Crisis Blástica/patología , Ciclofosfamida/administración & dosificación , Dasatinib/administración & dosificación , Dexametasona/administración & dosificación , Doxorrubicina/administración & dosificación , Humanos , Hibridación Fluorescente in Situ , Leucemia Mielógena Crónica BCR-ABL Positiva/diagnóstico , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Leucemia Mielógena Crónica BCR-ABL Positiva/patología , Ganglios Linfáticos/patología , Masculino , Persona de Mediana Edad , Inhibidores de Proteínas Quinasas/administración & dosificación , Vincristina/administración & dosificaciónRESUMEN
Extramedullary hematopoiesis (EMH) is a rare disorder, defined as the appearance of hematopoietic elements outside the bone marrow or peripheral blood. The most common sites of EMH are liver and spleen, but it has been documented in other organs such as the mediastinum, lymph nodes, breast, and central nervous system. EMH occurs as a compensatory mechanism for bone marrow dysfunction in severe thalassemia. We report a case of EMH presenting as a posterior mediastinal mass in a 34-year-old woman with thalassemia intermedia with chronic cough and shortness of breath on exertion. The diagnosis of EMH was confirmed by a CT-guided fine needle biopsy. All symptoms disappeared after surgical removal of the mass.
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Tos/etiología , Hematopoyesis Extramedular , Talasemia beta/complicaciones , Adulto , Enfermedad Crónica , Femenino , Humanos , Enfermedades del Mediastino/etiología , Talasemia beta/diagnóstico por imagenRESUMEN
Transformed plasma cells in multiple myeloma (MM) are susceptible to natural killer (NK) cell-mediated killing via engagement of tumor ligands for NK activating receptors or "missing-self" recognition. Similar to other cancers, MM targets may elude NK cell immunosurveillance by reprogramming tumor microenvironment and editing cell surface antigen repertoire. Along disease continuum, these effects collectively result in a progressive decline of NK cell immunity, a phenomenon increasingly recognized as a critical determinant of MM progression. In recent years, unprecedented efforts in drug development and experimental research have brought about emergence of novel therapeutic interventions with the potential to override MM-induced NK cell immunosuppression. These NK-cell enhancing treatment strategies may be identified in two major groups: (1) immunomodulatory biologics and small molecules, namely, immune checkpoint inhibitors, therapeutic antibodies, lenalidomide, and indoleamine 2,3-dioxygenase inhibitors and (2) NK cell therapy, namely, adoptive transfer of unmanipulated and chimeric antigen receptor-engineered NK cells. Here, we summarize the mechanisms responsible for NK cell functional suppression in the context of cancer and, specifically, myeloma. Subsequently, contemporary strategies potentially able to reverse NK dysfunction in MM are discussed.
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Dasatinib is a kinase inhibitor indicated for the treatment of newly diagnosed adults with Philadelphia chromosome-positive (Ph+) chronic myeloid leukemia (CML) in chronic phase and accelerated (myeloid or lymphoid blast) phase, and CML with resistance or intolerance to prior therapy including imatinib and in adults with Ph+ acute lymphoblastic leukemia1 The most common adverse reactions (≥15%) in patients with newly diagnosed chronic-phase (CP) CML include myelosuppression, fluid retention, and diarrhea, whereas in patients with resistance or intolerance to prior imatinib therapy, side effects include myelosuppression, fluid retention, diarrhea, headache, dyspnea, skin rash, fatigue, nausea, and hemorrhage. We report a 39-year-old Ethiopian female patient who received dasatinib as upfront therapy for the treatment of CP-CML who experienced chronic diarrhea for two months, which progressed to hemorrhagic colitis due to cytomegalovirus (CMV) infection of the colon. To our knowledge, this is the first case of CMV colitis in a patient receiving dasatinib as upfront therapy.
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Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm characterized by the presence of the Philadelphia (Ph) chromosome resulting from the reciprocal translocation t(9;22)(q34;q11). The molecular consequence of this translocation is the generation of the BCR-ABL fusion gene, which encodes a constitutively active protein tyrosine kinase. The oncogenic protein tyrosine kinase, which is located in the cytoplasm, is responsible for the leukemia phenotype through the constitutive activation of multiple signaling pathways involved in the cell cycle and in adhesion and apoptosis. Avascular necrosis of the femoral head (AVNFH) is not a specific disease. It occurs as a complication or secondary to various causes. These conditions probably lead to impaired blood supply to the femoral head. The diagnosis of AVNFH is based on clinical findings and is supported by specific radiological manifestations. We reported a case of a 34-year-old Sudanese female with CML who developed AVNFH after receiving dasatinib as a second-line therapy. Though the mechanism by which dasatinib can cause avascular necrosis (AVN) is not clear, it can be postulated because of microcirculatory obstruction of the femoral head. To the best of our knowledge and after extensive literature search, this is the first reported case of AVNFH induced by dasatinib in a patient with CML.