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The diagnosis of multiple myeloma (MM) is made based on the presence of either marrow clonal plasma cells > 10% or an extramedullary or bony plasmacytoma confirmed by biopsy. Additionally, at least one of the SLiM (sixty years, light chain ratio, magnetic resonance imaging)-CRAB (calcium elevation, renal insufficiency, anemia, and bone lesions) myeloma-defining events must be present. MM typically presents with symptoms such as fatigue due to anemia, kidney failure, hypercalcemia, and bone pain. It is uncommon, though, for MM to manifest as a single bone mass. We report the case of a 65-year-old male who did not fit the criteria for solitary bone plasmacytoma and presented with an unusual sternal tumor. The patient was diagnosed with MM despite not having any of the traditional symptoms such as low back pain, weight loss, anemia, or hypercalcemia. The diagnosis was based on a bone marrow examination, which showed 50% plasma cells. Radiation therapy and systemic chemotherapy were then used to treat him. The patient's symptoms, radiological findings, and biopsy results are described in detail, emphasizing the difficulty and intricacy of correctly diagnosing this uncommon manifestation of MM. This case highlights the need for a comprehensive and multidisciplinary strategy to diagnose and treat atypical presentations of MM, making sure that all possible diagnostic pathways are investigated in order to achieve accurate and timely diagnosis and treatment.
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We present a case of a 43-year-old immunocompromised female patient diagnosed with disseminated histoplasmosis on bone marrow examination, at clinical laboratory of Kasturba Hospital, Manipal, Karnataka, India. The patient, presenting with symptoms like weight loss, appetite loss, and pancytopenia, underwent bone marrow aspiration and biopsy. The bone marrow studies revealed HIV-associated changes and the yeast form of Histoplasma capsulatum, confirming disseminated histoplasmosis. Bone marrow examination is highlighted as a diagnostic tool with significant sensitivity in such cases. The report stresses on the importance of awareness and early diagnosis of histoplasmosis in immunocompromised patients, given its potential lethality and the need for timely therapeutic intervention for better prognosis.
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Retinoblastoma makes up about 3% of all childhood malignancies. The frequency of metastatic retinoblastoma ranges from 4.8 to 11%. Assessing the bone marrow status of newly diagnosed patients is crucial because of the advantages of autologous bone marrow transplants for high-risk patients. This study aimed to determine the utility of bone marrow examination in cases of retinoblastoma and its correlation with hematological findings. This retrospective study was conducted at the Department of Pathology, King George's Medical University, Lucknow, India. A total of 34 cases of retinoblastoma with bone marrow examination were included in the study. Bone marrow infiltration was present in 17.65% (6/34) cases of retinoblastoma. Bone marrow aspirate myelogram showed that marrow metastasis in retinoblastoma was significantly linked with a reduced percentage of total myeloid cells (p=0.001) and segmented cells (p=0.006). The present study demonstrated that 15% (3/20) of retinoblastoma patients previously classified as nonmetastatic before bone marrow examination (stages I to III based on histology, imaging, and bone scan) had bone marrow metastases following bone marrow examination and were upgraded to stage IV. To conclude, a diligent and exhaustive search for metastatic cells in bone marrow is advised if the myelogram shows a reduced percentage of total myeloid and segmented cells. All stage II and stage III cases of retinoblastoma must undergo bone marrow examination for early metastasis detection, as it may result in an upgrade to stage IV disease, impacting the prognosis and necessitating distinct treatment modalities.
Subject(s)
Bone Neoplasms , Retinal Neoplasms , Retinoblastoma , Humans , Child , Retinoblastoma/diagnosis , Retinoblastoma/pathology , Retinoblastoma/secondary , Bone Marrow Examination , Retrospective Studies , Bone Neoplasms/secondary , Retinal Neoplasms/diagnosis , Retinal Neoplasms/pathologyABSTRACT
Chronic lymphocytic leukemia (CLL) is one of the most common B-cell leukemias, occurring because of abnormal proliferation of non-functional B-lymphocytes. Progressive disease is commonly complicated by anemia, thrombocytopenia, infections as well as secondary malignancies. Bone marrow fibrosis is infrequently co-occurred along with CLL. Although multiple explanations have been proposed for this association, the etiology remains unclear in most cases. Bone marrow fibrosis occurring as a complication of CLL itself, however, is a rare entity. We present an uncommon case of a patient initially diagnosed with primary myelofibrosis but later revealed to have aggressive CLL leading to bone marrow fibrosis upon re-evaluation. Treatment for CLL resolved the bone marrow fibrosis completely, confirming our suspicion of fibrosis being secondary to CLL. This sheds light on the importance of understanding the etiology of bone marrow fibrosis in patients with CLL owing to its therapeutic implications. The utility of bone marrow biopsy in not only helping understand the etiology of the fibrosis but also providing prognostic information merits reconsideration of performing it in all cases of CLL.
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INTRODUCCIÓN: El Linfoma de Hodgkin (LH) es una causa prevalente de morbilidad por Cáncer Hematológico en el mundo y también en nuestro entorno. OBJETIVOS: Mostrar la experiencia de diez años tratando el LH en un centro docente chileno. Adicionalmente, exponer el rendimiento de diagnóstico del PET CT y la Biopsia de Médula Ósea. MATERIAL Y MÉTODOS: Se realiza un estudio de Cohorte retrospectivo para recopilar datos y resultados de los pacientes tratados en nuestro centro. RESULTADOS: Se analizaron 82 pacientes (edad promedio 35 años. Razón entre hombres y mujeres de 1,9:1). La sobrevida libre de progresión de 88,6% y 66,4% para estadios localizados y avanzados respectivamente. El PET como estrategia de etapificación tuvo mejor sensibilidad al comparar con la Biopsia de Médula. CONCLUSIONES: El resultado clínico de los pacientes tratados en este centro docente chileno fueron comparables a la literatura internacional. Adicionalmente, el PET CT evidenció ser una herramienta superior en el diagnóstico y etapificación superior a la biopsia en nuestros pacientes.
INTRODUCTION: Hodgkin Lymphoma (HL) is a prevalent hematological cancer in the world and Chile. OBJECTIVES: Show the experience of 10 years treating HL in a Chilean academic center. Additionally, it exposes the diagnostic performance of PET CT and Bone Marrow Biopsy. MATERIAL AND METHODS: We conducted a retrospective cohort study to collect data and outcomes of patients treated in our center. RESULTS: 82 patients were analyzed (Average age, 35 years old; the ratio between men and women was 1.9:1). Progression-free survival was 88.6% and 66.4% for localized and advanced stages, respectively. PET as a staging strategy had better sensitivity than Marrow Biopsy. CONCLUSIONS: The clinical results of the patients treated in this Chilean teaching center were comparable to the international literature. Additionally, PET CT proved to be a superior tool in diagnosis and staging compared to biopsy in our patients.
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Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Young Adult , Hodgkin Disease/pathology , Hodgkin Disease/diagnostic imaging , Positron Emission Tomography Computed Tomography/methods , Neoplasm Staging , Biopsy , Bone Marrow/pathology , Bone Marrow/diagnostic imaging , Chile , Retrospective Studies , Sensitivity and SpecificityABSTRACT
INTRODUCTION: Bone marrow examination (BME) is a reliable and effective tool in the diagnosis of many haematological and non-haematological diseases and may be used to investigate unexplained cytopenia in human immunodeficiency virus (HIV) infected patients. The objective of this study was to determine the diagnoses made, diagnostic yield and unique diagnostic yield of BMEs performed to investigate cytopenias in HIV infected patients. METHOD: A retrospective cross-sectional descriptive study was performed involving all BMEs performed on HIV-infected adult patients with the main indication of unexplained cytopenia over a period of 5 years and 4 months. Data was extracted from the National Health Laboratory Service's laboratory information system and clinicians' BME request forms. RESULTS: The study included 128 BMEs, performed on 124 patients. The diagnostic yield was 32% and the unique diagnostic yield was 30.5%. The most common diagnosis was pure red cell aplasia (10.9%), followed by immune thrombocytopenic purpura (ITP) (7%), iron deficiency anaemia (6.3%), malignancy (4.7%) and disseminated infection (3.9%). CONCLUSION: BME is a useful investigation for unexplained cytopenia in HIV-infected patients. Less invasive investigations to exclude haematinic deficiencies, haemolysis and sepsis are recommended on an individualised basis prior to BME. In HIV-infected patients with therapy refractory ITP or ITP with atypical clinicopathological findings, BME is strongly recommended. As Mycobacterial and other infections are common in this group of patients, staining and culture of specimens are advised if BME is undertaken.
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Anemia , HIV Infections , Leukopenia , Thrombocytopenia , Adult , Humans , Bone Marrow Examination , HIV , Retrospective Studies , Cross-Sectional Studies , Anemia/diagnosis , Anemia/etiology , HIV Infections/complications , HIV Infections/diagnosis , HIV Infections/pathology , Thrombocytopenia/diagnosis , Thrombocytopenia/etiologyABSTRACT
The hyperinflammatory immune response in severe COVID-19 infection shares features with secondary hemophagocytic lymphohistiocytosis (sHLH) in the form of fever, cytopenia, elevated inflammatory markers, and high mortality. There are contrasting opinions regarding utility of HLH 2004 or HScore in the diagnosis of severe COVID-19-related hyperinflammatory syndrome (COVID-HIS). This was a retrospective study of 47 patients of severe COVID-19 infection, suspected to have COVID-HIS and 22 patients of sHLH to other illnesses, to evaluate the diagnostic utility and limitations of HLH 2004 and/or HScore in context to COVID-HIS and to also evaluate the utility of Temple criteria for predicting severity and outcome in COVID-HIS. Clinical findings, hematological, and biochemical parameters along with the predictor of mortality were compared between two groups. Only 6.4% (3/47) of cases fulfilled ≥5/8 HLH 2004 criteria and only 40.52% (19/47) of patients showed HScore >169 in COVID-HIS group. 65.9% (31/47) satisfied the Temple criteria in COVID-HIS as compared with 40.9% (9/22) in the non-COVID group (p = 0.04). Serum ferritin (p = 0.02), lactate dehydrogenase (p = 0.02), direct bilirubin (p = 0.02), and C-reactive protein (p = 0.03) were associated with mortality in COVID-HIS. Both HScore and HLH-2004 criteria perform poorly for identifying COVID-HIS. Presence of bone marrow hemophagocytosis may help to identify about one-third of COVID-HIS missed by the Temple Criteria.
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COVID-19 , Lymphohistiocytosis, Hemophagocytic , Humans , Lymphohistiocytosis, Hemophagocytic/complications , Lymphohistiocytosis, Hemophagocytic/diagnosis , COVID-19/complications , Retrospective Studies , Syndrome , C-Reactive ProteinABSTRACT
Eosinophilia with a modest number of blasts (<20%) in the peripheral blood and bone marrow smears raises suspicion for myeloproliferative neoplasms (MPNs) and acute myeloid leukaemia (AML). Here, we present a case of AML in a 16-year-old boy who presented with high-grade fever, respiratory distress, and generalised weakness. Marked eosinophilia with dysplastic features and occasional blasts were found in the peripheral blood. In view of dysplastic eosinophils and occasional blasts in peripheral blood, a bone marrow examination was requested which revealed increased eosinophils and their progenitors with dysplasia and a modest number of blast cells (<20%). The bone marrow findings suggest MPNs, which were eventually identified as AML having translocation (8;21) with the aid of immunophenotyping and cytogenetic studies. Eosinophilia and its phenotypic anomalies are rarely found in peripheral blood smears of AML patients with translocation (8;21) which may have been related to the leukaemic process.
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BACKGROUND: Patients with underlying hematologic malignancy have a higher risk of developing systemic amyloidosis, which worsens their prognosis. Histopathologic detection of amyloid deposits in tissue biopsy specimens is the only diagnostic method for amyloidosis. PURPOSE: To compare the efficacy of ultrasound-guided percutaneous core needle biopsy (USPCB) of abdominal subcutaneous fat with that of bone marrow biopsy (BMB) for diagnosing amyloidosis. MATERIAL AND METHODS: A total of 90 consecutive patients with underlying hematologic disorders who underwent both USPCB of abdominal subcutaneous fat and BMB for suspicion of amyloid deposition during a 10-year period were included in this retrospective study. RESULTS: The sensitivity and specificity of detecting amyloid deposition were 85.7% and 100%, respectively, with USPCB as opposed to 4.8% and 100%, respectively, with BMB, and the sensitivity was significantly higher with USPCB (P < 0.001). The mean number of times USPCB was performed was 3.3. There were no major complications associated with USPCB. The sensitivity of detecting amyloidosis was not different between the 18-G needle group and the 14-G group (100% vs. 80%; P = 0.623). Logistic regression analysis revealed that acquiring more cores from USPCB and thinner fat tissues were statistically significant factors that affected the diagnostic accuracy of USPCB for amyloid detection. CONCLUSION: The sensitivity of amyloid deposition was significantly higher with USPCB of abdominal subcutaneous fat than BMB. Acquiring more cores by multiple biopsies instead of using a larger bore needle and thin subcutaneous fat pad may be a favorable factor for the diagnostic accuracy of USPCB.
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Amyloidosis , Subcutaneous Fat, Abdominal , Humans , Biopsy, Large-Core Needle , Subcutaneous Fat, Abdominal/pathology , Retrospective Studies , Bone Marrow/diagnostic imaging , Bone Marrow/pathology , Biopsy , Amyloidosis/diagnostic imaging , Image-Guided Biopsy , Ultrasonography, InterventionalSubject(s)
Lymphoma , Myelitis , Humans , Spinal Cord/pathology , Lymphoma/pathology , Magnetic Resonance ImagingABSTRACT
Severe chronic neutropenia is classified as severe congenital, cyclic, autoimmune, or idiopathic. However, there is a lot of uncertainty regarding the diagnosis of severe congenital neutropenia (SCN) and chronic idiopathic neutropenia, and this uncertainty affects further evaluations and treatments. A 20-year-old man presented with fever and knee abrasions after a bicycle accident. On admission, his initial absolute neutrophil count (ANC) was 30/µL. He had no medical history of persistent severe neutropenia with periodic oscillation of ANC. Although his fever resolved after appropriate antibiotic therapy, ANC remained at 80/µL. Bone marrow (BM) aspiration and biopsy were performed, and a BM smear showed myeloid maturation arrest. Moreover, genetic mutation test results showed a heterozygous missense variant in exon 4 of the neutrophil elastase ELANE: c597+1G>C (pV190-F199del). The patient was diagnosed with SCN. After discharge, we routinely checked his ANC level and monitored any signs of infection with minimum use of granulocyte colony-stimulating factor (G-CSF), considering its potential risk of leukemic transformation. Considering that SCN can be fatal, timely diagnosis and appropriate management with G-CSF are essential. We report the case of a patient with SCN caused by ELANE mutation who had atypical clinical manifestations. For a more accurate diagnosis and treatment of severe chronic neutropenia, further studies are needed to elucidate the various clinical features of ELANE.
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BACKGROUND: In the modern era of complete blood count analysis, manual differential count is performed whenever 'flags' are generated by an automated hematology analyzer. Traditionally, tally counters with five or eight keys are used for manual differential count. A few mobile applications are available to perform this task; however, the application features and cell representation are limited. OBJECTIVES: The primary objective of our study was to develop an indigenous, comprehensive mobile application to assist with manual blood cell differential count. The secondary objective was to measure the usability of a newly developed application among undergraduate medical students. MATERIALS AND METHODS: A new mobile application was developed using a Java development kit, Version 11.0.13 (Oracle Corporation, Austin, USA) in Android Studio Dolphin (2021.3.1) (Google, California, USA). The application content was validated by three pathologists with more than five years of experience. The app's usability was tested among 60 participants using a validated mHealth App Usability Questionnaire (MAUQ). The questionnaire had 18 items covering three domains: ease of use, interface & satisfaction, and usefulness. RESULTS: The newly developed application supports peripheral smear WBC differential count, platelet count, reticulocyte count, malaria parasite quantification, and bone marrow differential count. During usability testing, the app was easy to use in 95% (57/60) of participants, time-efficient in 91.7% (55/60), and helpful for healthcare practice learning in 96.7% (58/60). The total mean score was 6.11, indicating high usability. CONCLUSION: A comprehensive mobile application to assist manual differential count with adequate cell representation was developed. The mobile application was easy to use, time-efficient, and valuable among the study participants.
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Eosinophilic gastroenteritis (EGE) is a rare disease with a myriad of presentations. In this case series of four patients from South India, we describe three classical manifestations of the disease (mucosal, muscular, and serosal). Two of them had obstructive jaundice as a presenting complaint due to duodenal obstruction, whereas one had massive upper gastrointestinal bleed. There are very few case series regarding this disease from India. Its presentation as hemetemesis and obstructive jaundice is also very rare,with only few such case reports reported till now.
Résumé La gastro-entérite éosinophile (EGE) est une maladie rare avec une myriade de présentations. Dans ce cas, une série de quatre patients du sud de l'Inde, nous décrivons trois manifestations classiques de la maladie (muqueuse, musculaire et séreuse). Deux d'entre eux avaient une ictère obstructive comme plainte présentant en raison d'une obstruction duodénale, tandis que l'on avait un saignement gastro-intestinal supérieur massif. Il y a très peu de séries de cas concernant cette maladie de l'Inde. Sa présentation d'hématemèse et de jaunisse obstructive est également très rare, avec seulement quelques rapports de cas signalés jusqu'à présent. Mots-clés: Atopie, examen de la moelle osseuse, gastro-entérite eosinophile.
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Gastroenteritis , Jaundice, Obstructive , Humans , Rare Diseases/complications , Jaundice, Obstructive/etiology , Tertiary Care Centers , Gastroenteritis/complications , Gastrointestinal HemorrhageABSTRACT
BACKGROUND: Limited evidence supports the omission of routine bone marrow (BM) examination (biopsy and aspiration) in patients with nasal-type extranodal NK/T-cell lymphoma (ENKTCL). This study was aimed at assessing whether BM examination provides valuable information for positron emission tomography/computed tomography (PET/CT)-based staging in this patient population. PATIENTS AND METHODS: Patients newly diagnosed with ENKTCL who underwent initial staging with both PET/CT and BM examination between 2013 and 2020 were retrospectively identified in two Chinese institutions. Overall, 742 patients were included; the BM examination was positive in 67 patients. RESULTS: Compared with BM biopsy alone, the combination of BM biopsy and aspiration assessment did not afford any additional diagnostic value. No patient with a positive BM biopsy was found to have early-stage disease by PET/CT. BM biopsy or PET/CT led to upstaging from stage III to IV as a result of BM involvement in 21 patients. In 135 patients with distant organ involvement, BM involvement was associated with worse overall survival (OS) and progression-free survival (PFS) compared with the corresponding durations in patients without BM involvement (2-year OS: 35.9% vs. 60.4%, p < .001; PFS: 26% vs. 40.7%, p = .003). No difference in survival was noted between groups judged positive based on PET/CT and BM biopsy. CONCLUSION: Compared with aspiration, BM biopsy led to the detection of more BM lesions. Baseline PET/CT can be safely used to exclude BM involvement in early-stage disease. Overall, routine BM examination affords diagnostic or prognostic value over PET/CT in patients with advanced-stage nasal-type ENKTCL.
Subject(s)
Lymphoma, Extranodal NK-T-Cell , Positron Emission Tomography Computed Tomography , Humans , Positron Emission Tomography Computed Tomography/methods , Bone Marrow Examination , Fluorodeoxyglucose F18 , Retrospective StudiesABSTRACT
BACKGROUND: The diagnosis of immune thrombocytopenia (ITP) is one of exclusion. Although guidelines recommend against routine bone marrow examination (BME) at time of ITP diagnosis, the role of BME in relapsed/refractory ITP is unclear. OBJECTIVES: To examine the frequency and predictors of BME in relapsed/refractory ITP. PATIENTS/METHODS: This multicenter retrospective cohort study included adults with ITP who received second-line therapy in Alberta, Canada from 2012 to 2019. We calculated the frequency of BME and rate of abnormal marrow findings. Logistic regression was performed to assess predictors of BME and predictors of bone marrow pathology. RESULTS: Of 324 patients with presumed ITP, 181 (56%) underwent BME. We observed a marked decline in the rates of BME among patients >60 years over the past decade, but not in patients younger than age 60 years. On multivariable logistic regression, older age (adjusted OR [aOR] 1.03, p = .0001), anemia (aOR 2.5, p = .01), splenomegaly (aOR 3.2, p = .01), splenectomy (aOR 2.4, p = .02), and lack of splenectomy response (aOR 3.4, p = .04) were significant predictors of BME. Abnormal marrow findings were found in eight (2% of overall cohort; 4% of BME): four myelodysplastic syndrome, one aplastic anemia, one chronic lymphocytic leukemia, one metastatic cancer, and one megaloblastic anemia. Seven (88%) underwent BME for bicytopenias/pancytopenias. Macrocytosis (aOR 9.6, p = .03) and rural residence (aOR 6.7, p = .02) were independent predictors of abnormal bone marrow findings. CONCLUSIONS: Although routine BME is frequently performed in relapsed/refractory ITP, abnormal findings are rare. Future prospective studies are needed to help identify a subgroup of relapsed/refractory ITP who may benefit from BME.
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Anemia, Aplastic , Purpura, Thrombocytopenic, Idiopathic , Thrombocytopenia , Adult , Bone Marrow Examination , Humans , Middle Aged , Purpura, Thrombocytopenic, Idiopathic/diagnosis , Purpura, Thrombocytopenic, Idiopathic/therapy , Retrospective Studies , Thrombocytopenia/diagnosisABSTRACT
Introduction Tumor necrosis factor-alpha (TNF-α) is a pleiotropic cytokine that facilitates malignant cells in immune evasion, survival, and treatment resistance by generating a favorable milieu for them. It is shown to be ectopically produced by malignant/leukemic and immune cells in the tumor microenvironment, providing a tumor-supportive environment and playing an important part in the establishment and progression of malignant cells. It is linked to hyperleukocytosis, high blast count, and poor clinical outcomes in acute leukemia (AL). Considering the varied role and different expression patterns of tumor necrosis factor-alpha in acute leukemia and its clinical relevance, the present study was planned to monitor the level of tumor necrosis factor-alpha in patients with acute leukemia and its correlation with disease outcome. The aim of this study was to monitor the level of tumor necrosis factor-alpha in patients with acute leukemia at the time of diagnosis and after induction chemotherapy. Material and methods The study included cases classified as acute leukemia based on morphological examination, bone marrow analysis, and flow cytometry. In all patients with acute leukemia (n = 90) and controls (n = 10), the serum tumor necrosis factor-alpha level was measured using a Diaclone Human ELISA kit (Diaclone, Besancon, France) (solid phase sandwich ELISA) at diagnosis and after induction chemotherapy. Results Tumor necrosis factor-alpha levels were substantially higher in T-acute lymphoblastic leukemia (T-ALL) cases, followed by acute myeloid leukemia (AML) and B-acute lymphoblastic leukemia (B-ALL), at the time of diagnosis, compared to the control. A significant reduction in serum tumor necrosis factor-alpha level was seen in patients with acute leukemia after induction phase chemotherapy (P < 0.05). Tumor necrosis factor-alpha levels were considerably reduced (P < 0.001) in the majority of acute leukemia cases after the induction phase, while high tumor necrosis factor-alpha levels were positively correlated with incomplete remission status in the remaining cases. Conclusion Tumor necrosis factor-alpha is involved in the progression of acute leukemia and its relapse. High levels of tumor necrosis factor-alpha are linked to leukocytosis, high blast counts, and worse survival in patients with acute leukemia. Monitoring of tumor necrosis factor-alpha may be helpful in patients with acute leukemia in view of available antitumor necrosis factor-alpha therapy.
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It is well known that acute myeloid leukemia (AML) is characterized by lethargy, fever, pallor, and purpura. In children, however, skeletal symptoms may be present at onset in rare cases, and such cases tend to be misdiagnosed as osteomyelitis or septic arthritis. To distinguish acute leukemia from osteomyelitis or bone tumor, the utility of magnetic resonance imaging (MRI) has been discussed. We present a pediatric case of AML in which the initial manifestation was pain in a single bone, and the diagnosis was aided by bone marrow examination and MRI. A one-year-old male with AML presented with left humeral bone pain and intermittent fever. T1-weighted magnetic resonance imaging (T1WI) revealed diffuse low signal intensity in the bone marrow adjacent to the localized musculoskeletal symptoms. Despite a lack of blasts in the peripheral blood, the histopathological features of the bone focus suggested the need for an iliac crest bone marrow biopsy to obtain a definitive diagnosis. After the diagnosis of AML, the patient received induction and consolidation chemotherapy. He is currently alive in remission after a post-diagnosis follow-up of 36 months. To date, only seven pediatric cases of AML with skeletal symptoms at initial presentation have been reported, including the present one. In three cases, the skeletal lesion was observed at a single site, and the initial misdiagnosis was discitis, septic arthritis, or acute osteomyelitis. We suggest that AML should be considered as a differential diagnosis in children presenting with treatment-resistant single skeletal lesions. Not only MRI but also bone biopsy can yield diagnostically important information.
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OBJECTIVE: The causes of pancytopenia vary in different populations depending on age, gender, nutrition, geographic location, standard of living, and exposure to certain infections and drugs. As the severity of pancytopenia and its underlying etiology determine the management and prognosis, identifying the correct etiology in a given case is crucial and helps in implementing timely and appropriate treatment. The objectives of this study were to study the clinical profile and hematological parameters of pancytopenic adults and to identify different etiologies of pancytopenia. This observational study was conducted in the Medicine department of a tertiary care teaching hospital. MATERIALS AND METHODS: The study was conducted on 100 adult patients aged 18-65 years presenting with pancytopenia. All the participants were subjected to detailed clinical examination and relevant investigations including bone marrow (BM) examination. Categorical variables were presented in number and percentage (%). Qualitative variables were correlated using the Chi-square test. A P =0.05 was considered statistically significant. RESULTS: A female preponderance was observed, and the majority of patients were aged between 18 and 40 years. The most common clinical features were generalized weakness, fever, and pallor. Seventy-four percent of patients were vegetarians; 58% had vitamin B12 deficiency, 25% had folic acid deficiency and 19% had a deficiency of both. The most common cause of pancytopenia was megaloblastic anemia (MA) (37%), followed by dimorphic anemia (DA) (26%), aplastic anemia (AA) (20%), and hematological malignancies (11%). CONCLUSION: MA, DA, and AA are the most prevalent etiologies of pancytopenia. BM examination is of utmost importance in the definitive diagnosis of pancytopenia and is useful in initiating timely treatment as a significant number of causes of pancytopenia are potentially curable.
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Pulmonary embolism and splenic infarction are rare in patients with polycythemia vera. We herein describe a man in his early 60s whose main symptoms were chest tightness, cough, and sputum expectoration. Antibiotics, bronchodilators, and mucoactive agents did not improve his symptoms. Pulmonary artery computed tomography angiography showed pulmonary embolism, and abdominal computed tomography showed multiple hypodense foci in the spleen. Bone marrow aspiration cytology, biopsy, and genetic testing confirmed polycythemia vera. The patient's symptoms were relieved after treatment with hydroxyurea and rivaroxaban. This case emphasizes that although pulmonary embolism and splenic infarction are relatively rare in patients with polycythemia vera, the possibility of polycythemia vera should be considered in clinical practice.
Subject(s)
Polycythemia Vera , Pulmonary Embolism , Splenic Infarction , Angiography , Humans , Male , Polycythemia Vera/complications , Polycythemia Vera/diagnostic imaging , Polycythemia Vera/drug therapy , Pulmonary Embolism/diagnostic imaging , Pulmonary Embolism/drug therapy , Splenic Infarction/diagnostic imaging , Splenic Infarction/etiology , Tomography, X-Ray ComputedABSTRACT
OBJECTIVES: For the detection of bone marrow (BM) metastases in patients with neuroblastoma, microscopic BM examination and [123I]MIBG scintigraphy are advised. The aims of this study were to assess the concordance of [123I]MIBG and microscopic BM examination (aspirate and biopsy) in detecting BM involvement and to compare invasive disease in BM biopsies and aspirates, both at diagnosis and before autologous stem cell collection (ASCC). METHODS: Fifty-five patients with stage 4 or stage 4S disease were included, and 37 of them received an autologous hematopoietic stem cell transplantation (AHSCT). The concordance rate was measured and paired binary data were analysed by the McNemar test to look for a systematic difference between diagnostic tests. RESULTS: At diagnosis and before ASCC, we found acceptable concordance rates for [123I]MIBG versus microscopic BM examination (77.1% and 85.3% respectively). Discordant results were found in both directions and at both time points. The concordance rate for biopsy versus aspirate at diagnosis was 80.6%, however, before ASCC a much higher concordance rate between both microscopic examinations was found (94.1%). While none of the aspirates showed neuroblastoma cells before ASCC, two biopsies still showed tumor invasion. CONCLUSION: For patients with neuroblastoma, a [123I]MIBG scintigraphy and a microscopic examination of BM aspirate and its biopsy should be used as complementary tools in the evaluation of BM involvement, and this both at diagnosis and during treatment (before ASCC).