Examination Of Bone Marrow Aspirate Research Articles

Bone marrow evaluation in a pediatric population with pancytopenia in a tertiary care children’s hospital of Nepal

Background: Pancytopenia, which is characterized by a triad of anemia, leukopenia, and thrombocytopenia, is frequently observed among the pediatric population. This study was carried out to determine the common etiologies of pancytopenia in children through bone marrow aspiration examination. Materials and methods: A one-year retrospective cross-sectional study of 64 cases of pancytopenia in the pediatric population was conducted at the Department of Pathology, Kanti Children’s Hospital, from July 2019 to June 2020. Results: 64 (35.55%) cases underwent bone marrow examination for pancytopenia. The patients' ages ranged from 4 months to 14 years, with a median age of 6.24±1.12 years. The majority of the patients fell into the age group of 1-5 years. The most common cause of pancytopenia was acute leukemia and hypoplastic bone marrow followed by erythroid hyperplasia, leishmaniasis, and megaloblastic anemia. Conclusions: Bone marrow examination is the fundamental diagnostic modality to diagnose the majority of cases of pancytopenia. It is important to consider acute leukemia, hypoplastic bone marrow, and leishmaniasis into account when evaluating pancytopenia in pediatric patients.

Hodgkin lymphoma and bone marrow tuberculosis: A coincidence

Hodgkin lymphoma is a type of lymphoma that occurs due to mutations in B cells of the lymphatic system. Cases of lymphoma often have identical clinical manifestations with tuberculosis (TB), making the diagnosis difficult. Case of lymphoma coincidence with TB is rare, but can probably cause complexity in the diagnosis and treatment of patients. We report the case of a 20-year-old male patient who presented with symptoms of prolonged fever, enlarged lymph nodes, loss of weight, and weakness. The patient was treated with antituberculosis medication, but the symptoms did not improve. Several investigations were carried out on the patient. Lymph node biopsy showed scattered tumor cells consisting of mononuclear Hodgkin cells with several Reed–Sternberg cells. On the other hand, the bone marrow aspiration examination was positive for Mycobacterium tuberculosis. Reconsideration of confirmed diagnosis and repeated diagnostic process are required when there is a discrepancy in clinical features, radiological findings, or treatment responses.

A RESPON KEMOTERAPI FLUDARABINE PADA HAIRY CELL LEUKEMIA

HCL is part of a rare B-cell lymphoproliferative disorder and is a subtype of Chronic Lymphocytic Leukemia. It is characterized by progressive pancytopenia, splenomegaly, and bone marrow hypercellularity. Patients often come because of abnormal complete blood count results or complications such as infection. This case report explains a case of a 41-year-old woman who had recurrent shortness of breath and cough as symptoms, where the patient had a history of acute myeloblastic leukemia (AML) with non-routine fludarabine chemotherapy. After receiving treatment and underwent further investigations in the form of peripheral blood smear and bone marrow aspiration examination, it was found that the patient had hairy cell leukemia. Fludarabine was given to the patient and it is reported to give effect partial remission (based on last bone marrow aspiration) along with pancytopenia as a clinical manifestation from myelosuppression as a side effect for long-term used fludarabine.
 HCL is part of a rare B-cell lymphoproliferative disorder and is a subtype of Chronic Lymphocytic Leukemia. It is characterized by progressive pancytopenia, splenomegaly, and bone marrow hypercellularity. Patients often come because of abnormal complete blood count results or complications such as infection. This case report explains a case of a 41-year-old woman who had recurrent shortness of breath and cough as symptoms, where the patient had a history of acute myeloblastic leukemia (AML) with non-routine fludarabine chemotherapy. After receiving treatment and underwent further investigations in the form of peripheral blood smear and bone marrow aspiration examination, it was found that the patient had hairy cell leukemia. Fludarabine was given to the patient and it is reported to give effect partial remission (based on last bone marrow aspiration) along with pancytopenia as a clinical manifestation from myelosuppression as a side effect for long-term used fludarabine.

Clinicopathologic and mutational profiles of primary breast diffuse large B cell lymphoma in a male patient: case report and literature review

IntroductionPrimary breast lymphoma (PBL) is rare, and most cases occur in female patients, with few reported cases in male patients. The clinical presentation is similar to that of breast cancer, but the condition needs to be well understood, as treatment options and clinical course vary. Hence, we provide a relatively rare case of primary breast diffuse large B cell lymphoma (PB-DLBCL) in a male, including its complete clinicopathological features, radiological findings, genomic mutational profiles, and clinical course.Case presentationA 45-year-old male presented with a lump in his right breast for 1 week and was pathologically diagnosed with breast malignancy after a breast puncture biopsy at the local hospital. He came to our hospital for further treatment and underwent breast ultrasound and systemic positron emission tomography/computed tomography (PET/CT) imaging, followed by right mastectomy and sentinel lymph node biopsy. Histomorphology showed diffuse hyperplasia of tumor cells with clear boundaries and surrounding normal breast ducts. The adhesion of tumor cells was poor with obvious atypia. Immunohistochemical results showed that the tumor cells were positive for CD20, Bcl6, and MUM-1 but negative for CK (AE1/AE3), ER, PR, CD3, and CD10. Forty percent of the tumor cells were positive for c-Myc, and 80% of tumor cells were positive for Bcl2. The Ki-67 proliferation index was up to 80%. The tumor cells were negative for MYC and BCL2 rearrangements but positive for BCL6 rearrangement by fluorescent in situ hybridization. No abnormality was found in the pathological examination of bone marrow aspiration. Therefore, the male was diagnosed with PB-DLBCL, nongerminal center (non-GCB) phenotype, dual-expression type. The sample were sequenced by a target panel of 121 genes related to lymphoma. Next-generation sequencing revealed six tumor-specific mutated genes (IGH/BCL6, TNFAIP3, PRDM1, CREBBP, DTX1, and FOXO1). The patient was given six cycles of orelabrutinib plus R-CHOP chemotherapy and two cycles of intrathecal injection of cytarabine. The last follow-up was on April 13, 2023 (17 months). No recurrence or metastasis was found in laboratory and imaging examinations.ConclusionWe reported a relatively rare PB-DLBCL in a male, non-GBC phenotype, dual-expression type. It is worth mentioning that this case had IgH/BCL6 fusion, nonsense mutations in TNFAIP3, frameshift mutations in PRDM1, and missense mutations in CREBBP, DTX1, and FOXO1. To the best of our knowledge, this case is the first report of genomic mutational profiles of PB-DLBCL in males.

Acute Lymphoblastic Leukaemia (ALL) with History of Juvenile Idiopathic Arthritis (JIA)

Backgrounds: Distinguishing leukemia from Juvenile Idiopathic Arthritis (JIA) is sometimes very difficult. Children with leukemia can also present with complaints of the bones and muscles and many children with leukemia initially present without blast cells in the peripheral blood. Case Reports: A boy aged 8 years 7 months with complaints of joint pain since 6 months before he was admitted to the hospital. Pain was felt intermittently, there was no complaint of fever or bleeding. physical examination, blood pressure 100/70mmHg, pulse 100times/minute, respiratory rate 24times/minute, temperature 36.70C, obtained anemia and splenomegaly. Laboratory tests showed WBC 242.00 x 103/μL, absolute lymphocytes 98.60 x 10 3/μL, RBC 1.54 x 106/μL, HGB 6.02g/dL, PLT 78.09 x 103/μL, CRP 21.65mg/dL, ANA(IF )# negative, RF negative, C3 Complement 150.6mg/dL. Bone Marrow Aspiration (BMA) Acute Lymphoblastic Leukemia (ALL) L2. Conclusion: A boy aged 8 years and 7 months with an initial diagnosis of Juvenile Idiopathic Arthritis, after 3 months of treatment the patient was diagnosed with acute lymphoblastic leukemia based on the results of bone marrow aspiration examination. Currently the patient is undergoing a Leukemia therapy protocol.

Acute Erythroleukemia (AML-M6) in one-year-old boy: a case report

Background: Acute Erythroleukemia (AML-M6) is a rare case with approximately 3-4% of all Acute Myeloid Leukemia (AML) cases. AML-M6 is less common in the pediatric population, with an incidence of <1% of all pediatric leukemia cases. This case study aims to evaluate Acute Erythroleukemia (AML-M6) in a one-year-old boy at Prof. dr. IGNG Ngoerah Denpasar. Case Presentation: A one-year-old boy with clinical manifestations of fluctuating fever for a month, paleness, bleeding gums, bruising all over his body, swelling of both eyelids and splenomegaly. Peripheral Blood Smear (PBS) examination revealed bicytopenia with moderate normochromic normocytic anemia, severe thrombocytopenia and leukocytosis. A hypercellular picture was obtained from the examination of Bone Marrow Aspiration (BMA) with an increase in erythroblast activity of 74%, proerythroblast at 50% and normal myeloblasts activity at 10%. The patient was diagnosed with Acute Erythroleukemia (AML-M6). The patient died on day 16 of treatment. Conclusion: Based on the examination results, it was concluded that the patient was diagnosed with AML-M6 according to the PBS and BMA evaluation.

Pancreatitis in Acute Lymphoblastic Leukemia

Pancreatitis is inflammation of the pancreatic parenchyma and diagnosed based on symptoms of heartburn accompanied by increased levels of pancreatic enzymes. Acute pancreatitis in acute lymphoblastic leukemia in addition to being caused by therapy can also be caused by other factors. 13-year-old female patient with a diagnosis of acute lymphoblastic leukemia complained of heartburn which was felt through to the back. Patients also experience nausea, vomiting, decreased appetite, difficulty in bowel movements, and fever. Physical examination found an increase in body temperature, anemic eyes, multiple neck gland enlargement, and enlargement of the liver. The results of complete blood tests showed leukocytosis, anemia, and thrombocytopenia. The results of examination of bone marrow aspiration show a picture of the bone marrow in accordance with acute lymphoblastic leukemia (ALL-L2). Clinical chemistry tests showed an increase in amylase, lipase, SGOT, BUN, creatinine, LDH, ferritin, calcium, and procalcitonin. The patient has never received chemotherapy for the ALL. Acute pancreatitis in ALL in addition to being caused by administration of leukemia can also be caused by sepsis conditions which are complications of the ALL. ALL patients who experience acute pancreatitis in this case show a poor prognosis.

P1732: EVALUATION OF A DIGITAL SYSTEM LEVERAGING MOBILE TECHNOLOGY AND ARTIFICIAL INTELLIGENCE FOR DIGITALIZATION, REMOTE ANALYSIS AND SUPPORTED DIFFERENTIAL CELL COUNT OF BONE MARROW ASPIRATES.

Background: Microscopic examination of bone marrow aspirates (BMA) is still, in almost every organization world-wide, a task that is performed with conventional microscopes relying on an in-person diagnostic process. Being these samples left outside the digital world, it is not possible to leverage tools such as Artificial Intelligence (AI) algorithms to support diagnosis in hematological medical images. Concerning the BMA analysis, the differential cell count (DCC) remains non-automated, being a tedious and time consuming task that is frequently affected by considerable interobserver variability. Aims: To support the work of hematologists in the analysis of BMA samples by implementing a simple digitization system to develop and validate an AI algorithm for the automatic recognition of different bone marrow cell lineages. This system aims at decreasing the interobserver variability associated with bone marrow DCC and improving the efficiency due to the increased speed of cell quantification. Methods: 100 BMA samples from 95 patients were digitized by photographing 20 fields for each sample (1000x magnification) by hematology researchers. The digitization equipment consists of a 3D printed device to align the smartphone to the ocular lens of a conventional microscope; an acquisition app, and a web-based telemedicine platform to remotely visualize and analyze the images. Resulting images were used to train and validate an AI algorithm for the recognition of different bone marrow cell lineages. Subsequently, a total of 32,229 cells were identified and each of them was remotely classified and tagged by a panel of 3 different hematologists (randomly selected from the 6 who participated in the study) according to 6 different lineages: Myeloid, Erythroid, Monocytic, Lymphoid, Blasts and Plasma cells. The AI algorithm was trained only with cells in which all 3 experts agreed on the class (n=28,058). Validation of the algorithm was performed on an independent test set composed by 7,063 cells not included in the training set. Interobserver agreement was calculated for all possible pairs of experts and mean agreement was calculated for each lineage class. 95% confidence intervals (CI) were properly calculated. A two-stage cell detection and lineage classification deep learning-based algorithm was developed to automatically identify and differentiate the aforementioned 6 lineage classes. Ethics approval for the study was obtained from the Clinical Research Ethics Committee. Results: The detection algorithm achieved high overall accuracy for detecting nucleated cells in microscopy images (sensitivity and precision of 91.6% and 91.3% respectively). Identified cells were further classified by the algorithm into 6 different lineage classes with an overall accuracy of 92.6%. Additionally, and for comparative purposes, interobserver agreement was also calculated. Average interobserver agreement was 88.1%. The Figure shows the 95% CI for AI performance and agreement between observers for each lineage class independently. As it can be shown, the AI algorithm demonstrated similar performance to that of a hematologist. Image:Summary/Conclusion: It is possible to digitize BMA samples in a standardized way just relying on smartphones and a simple 3D printed device, transforming BMAs’ DCC in a digital, asynchronous and ubiquitous process. A reliable AI algorithm has been generated to perform an automatic bone marrow DCC with comparable performance to that of a human expert. This AI algorithm can be embedded in any smartphone and has the potential to run in any lab in the world, increasing efficiency and objectivity.

Clinical Significance of MAP-7 and FOXC1 in Egyptian Acute Myeloid Leukemia Patients.

Purpose:The present study aimed to report the clinical correlations and prognostic significance of microtubule-associated protein-1 (MAP-7) and forkhead box transcription factor-C1 (FOXC1) expression in Egyptian patients with newly diagnosed acute myeloid leukemia (AML). Methods:The study included 80 adults with newly diagnosed AML. Laboratory investigations included complete blood count, morphological examination of bone marrow aspirate, immunophenotyping, conventional karyotyping and molecular study for fms-like tyrosine kinase 3 (FLT3), nucleophosmin-1 (NPM1) and CCAAT/enhancer binding protein α (CEBPA) mutations. MAP-7 and FOXC1 expressions in bone marrow were determined using RT-PCR. Patients were followed for a median (range) period of 6.4 (1.0-35) months. The study outcomes included treatment response, progression-free survival (PFS) and overall survival (OS). Results:Patients with low FOXC1 expression had significantly lower mortality rate (60.0 % versus 84.6 %, p=0.021), significantly longer PFS duration and significantly longer OS. No significant differences were noted between MAP7 expression groups regarding treatment response, mortality rate, PFS duration and OS duration. Interestingly, a significant direct correlation was noted between FOXC1 and MAP7 expressions (r=0.25, p=0.027). Conclusions: FOXC1 and MAP7 expressions are significantly correlated. High expression of FOXC1 in Egyptian population may be related to shorter OS and PFS.

Results of cytological examination of bone marrow aspirates in patients with HIV infection and cytopenia in correlation with viral load

Aim determination of specific changes in the bone marrow in patients with HIV infection and cytopenia, depending on the viral load.
 Material and methods. We analysed myelograms of patients with HIV infection and cytopenia. All patients had bicytopenia or pancytopenia in the hemogram.
 Results. In patients with a viral load over 100 001 copies/ml, the hypocellularity of each of the hematopoietic cell line was significantly more often observed, hypercellularity was recorded only in the myelograms of patients with a viral load of less than 100 001 copies/ml. When assessing the signs of myelodysplasia in the bone marrow, changes in the megakaryocyte lineage (the formation of naked cells, dysmegakaryocytopoiesis) were typical for patients with a viral load of less than 10 000 copies/ml. Signs of dysplasia of the granulocytic lineage are more often determined in patients with a viral load of more than 100 001 copies/ml.

CHANGES IN MEGAKARYOCYTES IN VARIOUS HEMATOLOGICAL CONDITIONS : A STUDY OF BONE MARROW ASPIRATION IN A TERTIARY CARE CENTRE

INTRODUCTION Dysmegakaryopoiesis is characterized by various Megakaryocytic alterations in bone marrow and includes both dysplastic and non dysplastic features.Dysplastic changes are mostly seen in myelodysplastic syndrome however megakaryocyte alteration have also been noted in some bone marrow aspiration in non myelodysplastic conditions. AIMS OBJECTIVE To evaluate changes in megakaryocytes in various hematological conditions in bone marrow aspiration examination. MATERIAL AND METHODS Study was done at Central Pathology lab in the Department of Pathology GAJRA RAJA MEDICAL COLLEGE GWALIOR over a period of 1.5 year FROM NOV 2019 TO MAY 2021.Total 84 bone marrow were received out of 14 were dilute so excluded from study and results were prepared from 70 cases.Age range was 9 months to 75 years RESULTS AND OBSERVATIONS In this study out of 70 patients, 43 were male and 27 were female.Patients were categorised into neoplastic and non neoplastic category.Out of 70 cases 46 were non neoplastic forming majority while 24 were neoplastic. Out of non neoplastic, megaloblastic anemia was most common while acute leukemia was most frequent in neoplastic category.Bone marrow was evaluated for cellularity. 47 were hypercellular marrow forming majority with 15 cases showing normal cellularity and 08 as hypocellular. Acute leukemia and megaloblastic anemia were two conditions which had hypercellular marrow. The number of the megakaryocytes was considered normal when one megakaryocyte per 3 low power fields was encountered,increased if more than two megakaryocytes per low power field were seen and decreased when one megakaryocyte per five to ten low power fields was documented and absent when no megakaryocytes were seen per ten low power field. Our study showed 27 cases of megakaryocytic hypocellularity, 22 cases normal number of megakaryocytes and 18 as increased number of megakaryocytes. Normally megakaryocytes have four to sixteen nuclear lobes. Immature megakaryocytes were defined as young forms of megakaryocytes with scant bluish cytoplasm and lacking lobulation of the nucleus. Dysplastic megakaryocytes are those with single, multiple/separated nuclei. Micro megakaryocytes were defined as megakaryocytes whose size was that of large lymphocyte or monocyte and which had a single / bi-lobed nucleus. Our study – showed normal megakaryocyte morphology in 32/70 (45%) cases and 35/70 (50%) were with altered morphology. CONCLUSION Dysplastic Morphologic changes in megakaryocyte were not only seen in MDS but also in various non MDS conditions which should be considered during diagnosis.Understanding and detailed knowledge of changes in megakaryocytes,including both cellularity and morphology,can improve the diagnostic accuracy for a wide range of hematological disorders

Clinico-Hematological Study of Thrombocytopenia on the Basis of Bone Marrow Examination in a Tertiary Care Hospital

Background: Thrombocytopenia can occur in a variety of clinical conditions. Bone marrow aspiration is crucial for diagnosis. The purpose of this study was to investigate the causes of thrombocytopenia, its spectrum, and how to interpret the results of bone marrow aspiration.
 Aim & Objectives: To study the cases of thrombocytopenia on the basis of bone marrow examination for correlation of bone marrow findings with clinical features, haematological parameters and other investigations in cases of thrombocytopenia. Secondary objective is to investigate the role of morphological examination of bone marrow aspiration and trephine biopsy in diagnosis of various disorders leading to thrombocytopenia.
 Results: The cross-sectional prospective study lasted two years, from May 2019 to May 2021, at a tertiary care centre where clinico-haematological evaluation of patients with thrombocytopenia was done on the basis of bone marrow examination. A total of 103 cases with thrombocytopenia underwent bone marrow examination of which most patients belonged to the age group of 41-50 with a male preponderance. Majority of the patients presented with generalized weakness and pallor. Megaloblastic anaemia was the most predominant cause followed by acute myeloid leukemia and dimorphic anaemia. More research into the pathogenesis of megakaryocytic alteration and its contribution to thrombocytopenia could lead to a better understanding of the pathogenesis of a variety of hematopoietic disorders and the identification of broader clinical applications.

A study of Iron store in Bone marrow and its correlation in various anemia

incidence of anaemia is a very common but prevalence of anaemia is disproportionately high in developing countries. With proper clinical history, haematological and bone marrow examination findings proper evaluation and management of patients with anaemia can be made. Microscopic examination of bone marrow aspirate is the gold standard for assessing marrow iron store. However, conventional Gale’s method assesses iron in marrow fragments alone which provides little valuable information about functional iron deficiency seen in many chronic diseases. Thisstudy is conducted to measure iron grading using perl’s Prussian blue staining in various hematological conditions. A descriptive study of Perl’s Prussian blue stained bone marrow aspirate smears of 130 patients with anaemia. A CBC, Reticulocyte count and Bone marrow iron was assessed by the Gale’s method in this study.After excluding 9 cases of dry tap, 121 cases were evaluated in our study. 78.57% of cases (61 cases) diagnosedas microcytic anaemia had iron store very low (grade 0 and 1). In patients with megaloblastic anaemia (15 cases), 46.7% of cases (7 cases) had iron store grade was normal, but in 8 cases iron grade was low. In patients with dimorphic anaemia (23 cases), 78.3% of cases (18 cases) had iron store grade was normal.Bone marrow aspiration with application of Prussian blue stain is useful to investigate patients with suspected iron deficiency anaemia, anaemia of chronic disease, megaloblastic anaemia and acute leukemia.

Diagnostic importance of bone marrow aspiration evaluation: A single-center study.

Background & Objective:Early diagnosis can be made based on the morphological examination of bone marrow aspiration (BMA) until the bone marrow biopsy (BMB) result is reported. This allows for treatment to be started immediately, especially in hematological malignancies for which urgent treatment is indicated. This study aimed to determine the sensitivity and importance of bone marrow aspiration in the diagnosis of hematological malignancies.Methods:In this study, the data of patients who underwent bone marrow aspiration and bone marrow biopsy in Van Yuzuncu Yil University hospital between 2017 and 2019 were retrospectively analyzed. A total of 500 patients who simultaneously underwent BMA and BMB were included in the study. Data were obtained from electronic medical records.Results:Indication for bone marrow evaluation was abnormalities in complete blood count in 270 (54%) of patients. The diagnosis was made based on the evaluation of BMA in 475 (95%). In 456 (96%) of the 475 patients diagnosed with BMA, the diagnosis was consistent with that of BMB. Agreement of BMB with BMA was 100% in acute and chronic leukemias, while BMA was not sufficient for the diagnosis of lymphoma and solid organ metastasis.Conclusion:Our study showed that the evaluation of BMA was highly sensitive in the diagnosis of hematological malignancies, such as acute leukemias, chronic leukemias, and multiple myeloma.

Machine Learning-Based Automated Selection of Regions for Analysis on Bone Marrow Aspirate Smears

Abstract Manual microscopic examination of bone marrow aspirate (BMA) smears and counting of cell populations remains the standard of practice for accurate assessment of benign and neoplastic bone marrow disorders. While automated cell classification software using machine learning models has been developed and applied to BMAs, current systems nonetheless require manual identification of optimal regions within the slide that are rich in marrow hematopoietic cells. To address this issue, we have developed a machine learning-based platform for automated identification of optimal regions in whole-slide images of BMA smears. A training dataset was developed by manual annotation of 53 BMA slides across biopsy diagnoses including unremarkable trilineal hematopoiesis, acute leukemia, and plasma cell neoplasms, as well as across differences in total cellularity represented by a spectrum of marrow nucleated cell content and white blood cell counts. 10,537 regions among these 53 slides were manually annotated as either “optimal” (regions near aspirate particles with high proportions of marrow nucleated cells), “particle” (aspirate particles), or “hemodilute” (blood-rich regions with high proportions of red blood cells). Training of a neural network-based classifier on 10x magnification slides with region cropping and image augmentation resulted in a classifier with substantial accuracy on new testing-set BMA slides (one-vs-rest AUROC > 0.999 across 10 training/testing splits for all 3 region classes), with very few particle and hemodilute regions being classified as optimal (particle: 0.83%, hemodilute: 0.39%). Additionally, this classifier accurately classifies BMA regions on slides from hematological disorders not represented in the training data, including Burkitt lymphoma (AUROC > 0.999 across region classes), chronic myeloid leukemia (AUROC > 0.999 across region classes), and diffuse large B-cell lymphoma (AUROC = 1 across region classes), demonstrating the broad applicability of our approach. To assess the performance of our classifier on whole-slide images, tiles from 10x magnification slides were manually annotated by three participants with notable concordance (Krippendorff’s alpha = 0.424); substantial agreement was found between manual annotations and model predictions within whole-slide images (optimal AUROC = 0.958, particle AUROC = 1.0, hemodilute AUROC = 0.947). Based on these promising results, this machine learning-based region classification model is being connected to a previously-developed bone marrow cell classifier to fully automate differential cell counting in whole-slide images. The development of this novel automated pipeline has potential to streamline the diagnostic process for hematological disorders while enhancing accuracy and replicability, as well as decreasing diagnostic turnaround time for improving patient care.

A comprehensive analysis of cytopenias and bone marrow morphology in patients with a history of bariatric and metabolic surgery.

Following bariatric and metabolic surgery (BMS), patients may develop persistent cytopenia(s) despite adequate micronutrient levels. A comprehensive analysis of laboratory and hematopathologic findings in BMS patients with unexplained cytopenia(s) has not been previously described. We reviewed the clinical and laboratory data, bone marrow histology, and used ancillary testing to characterize patients with a history of BMS who had subsequent bone marrow biopsies due to unexplained cytopenia(s). All patients had anemia and 59% (23/39) had additional cytopenias. Myelodysplastic syndrome (MDS) and clonal cytopenia of unknown significance (CCUS) were diagnosed in 8% (3/39) and 10% (4/39), respectively. Remaining cases were classified as idiopathic cytopenia of unknown significance (ICUS) with anemia alone (ICUS-A) in 47% (15/32) or multiple cytopenias (ICUS-PAN) in 53% (17/32). Time since surgery, age, or amount of weight loss was not associated with a specific diagnosis. No patient was vitamin B12 or folate deficient. However, vitamin B6 and zinc were decreased in 47% (5/11) and 29% (9/29), respectively. Examination of bone marrow aspirates revealed slight erythroid dyspoiesis affecting <10% of precursors in 60% (9/15) ICUS-A and 59% (10/17) ICUS-PAN. Bone marrow findings in patients with unexplained cytopenia(s) after BMS are not specific in the majority of cases, and caution is advised when interpreting dyserythropoiesis. Levels of micronutrients and vitamins other than iron, folate and vitamin B12 are frequently disturbed in this patient cohort and warrant correction and close clinical follow-up.

Intussusception in a child with Acute Lymphoblastic Leukemia: a remarkable presentation with literature review \u2013 a case report

BackgroundGastrointestinal complications are not uncommon in patients of Acute Leukemia. Intussusception as a complication in leukemia, although described, is exceedingly rare. Also, it is usually seen after chemotherapy and not as a part of the native disease process. This case report aims to highlight such a rare association which warrants clinical and pathological attention.Case presentationA 14 year old male presented with an acute abdomen. Initial routine investigations revealed a deranged blood picture. On further examination of bone marrow aspirate, biopsy and detailed immunohistochemical studies a diagnosis of B-Acute Lymphoblastic Leukemia (B-ALL) was made. Concurrent ultrasound of the abdomen to find a cause for severe abdominal pain revealed an Ileo-colic intussusception. The patient was started on steroids; however he succumbed to his illness after two days, before surgery could be attempted.ConclusionRare presentations of relatively common diseases are a hurdle for timely and effective medical intervention. Although a rare condition in itself in leukemic patients, the occurrence of Intussusception in this particular patient, especially when no chemotherapy was initiated, is a very rare event. This case report was made to add to the relatively scarce literature available on this particular association. As it is a surgically treatable condition and since delay in diagnosis may lead to poorer prognosis, possibility of co-existence of ALL and intussusception should be borne in mind by all treating physicians and hematopathologists for effective patient care.

Clonal Cytogenetic Abnormalities in Myeloid Neoplasms Arising from Fanconi Anemia — a Single Center Study from India

Fanconi anemia (FA) is a genomic instability disease caused by defective DNA repair which predisposes patients into developing myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). Identification of clonal abnormalities in FA patients is vital to detect transformation before the onset of a high-grade MDS/leukemia.We analyzed bone marrow (BM) samples from a series of 50 patients with FA who were diagnosed at the Christian Medical College, Vellore, India from January 2005 - July 2017 by peripheral chromosome breakage analysis (CBA) or FANCD2 ubiquitination analysis of peripheral blood or dermal fibroblasts. Inclusion in the current study was based on the availability of karyotyping samples performed on the BM aspirate collected at diagnosis. Peripheral blood and dermal fibroblasts were collected at diagnosis for CBA and FANCD2 western blot.All 50 patients evaluated had phenotypic features suggestive of FA. There were 28 patients who had increased CBA scores alone while 21 had both increased CBA scores as well as defective FANCD2 ubiquitination. One patient with negative CBA score showing hematopoietic mosaicism with defective FANCD2 ubiquitination pattern in dermal fibroblasts alone was also included in the study.The median age at diagnosis was 16 years (range 1-35) and 35 (70%) were male. Abnormal karyotypes were obtained in 38 patients while the remaining (n=12) showed a normal karyotype. Examination of bone marrow aspirate and trephine was consistent with MDS in 29 (MDS-RS-MLD n= 3; MDS-EB n= 10; MDS-U n=12; h-MDS n=4), while the remaining had either AML (n=8) or a hypoplastic marrow (n=13). The 12 patients who had a normal karyotype were predominantly hypoplastic (n=8) or had either MDS (n=3) or AML (n=1). Abnormalities of chromosomes 1 and 7 were the most commonly reported chromosome aberration and was seen in 17 patients each (45%). A partial deletion 5q was present in 7 (18%) patients while gains of chromosomes 8 and 21 were seen in 5 and 6 patients respectively. Complex karyotypes involving abnormalities of 3 or more chromosomes were seen in 16 (42%) patients who had MDS/AML. FA gene mutation analysis of 8 patients showed FANCA gene mutations in 7 patients (4-abnormal KT, 3-normal KT) while 1 patient with abnormal karyotype had a mutation in the FANCJ gene.Post treatment karyotypes were available in 2 patients with AML and 1 patient with MDS which showed persistence of the leukemic clone identified at diagnosis (n=1) or clonal evolution (n=1, gain of chromosome 9) while the third patient showed a new clone after treatment which retained two of the three abnormalities documented at diagnosis.Using the Revised International Prognostic Scoring system for MDS majority of the patients (n=20) with MDS were classified in the poor or very poor risk groups while the remaining patients were in the good (n=6) or intermediate (n=3) risk group.Five of the 8 patients with AML were classified as poor risk according to the refined MRC cytogenetic classification while 3 were grouped in the intermediate risk group.Among the 13 patients showing a hypoplastic marrow, one patient had monosomy 7 which has been shown to have an increased risk of transformation to MDS/AML. One patient who had gain of 1q due to an unbalanced translocation transformed to AML in 9 months.We report a distinct pattern of chromosome abnormalities in patients with FA-MDS/AML consistent with previous reports, underscoring the need for inclusion of karyotype analysis in the laboratory evaluation strategy of FA patients for early detection of transformation to hematologic malignancies. [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

Case Report: Multisystem Langerhans Cell Histiocytosis (LCH) and Myelodysplastic Syndrome (MDS) in a 13-Month-Old Female

Langerhans Cell Histiocytosis or LCH and Myelodysplastic syndrome or MDS in children are rare diseases. It is estimated to be 1 to 4 cases per 1 million population and less than 5% of hematologic cases. MDS in LCH can occur due to genetic predisposition, impaired cytokine production, or secondary to chemotherapy. The article reported a patient case of a 13-month-old female who came to hospital with paleness since two weeks before admission. The patient also experienced skin redness, abdominal distention, and weight loss. From the physical examination, anemia, maculopapular rash, and hepatosplenomegaly were obtained. From the laboratory test, anemia of hypochromic anisopoikilocytosis, monocytosis, thrombocytopenia, and hypoalbuminemia were obtained. On examination of bone marrow aspiration, MDS with Refractory Cytopenia of Childhood type or RCC was obtained. Positive results confirmed the diagnosis of Langerhans Cell Histiocytosis on CD68 and S100 in histopathological examinations.

Diagnostic utility of bone marrow aspiration biopsy in definitive diagnosis in cases of hepatosplenomegaly.

Objective: To determine the diagnostic utility of bone marrow aspirate in finding cause of hepatosplenomegaly. Study Design: Cross Sectional Descriptive study. Setting: Pathology Department of Khyber Teaching Hospital. Period: August 2017 to December 2017. Material &amp; Methods: A total of 116 cases were referred to Pathology department for workup of hepatosplenomegaly during study period. Patients were subjected to bone marrow aspiration and biopsy. The cases were diagnosis was made and those where no specific diagnosis could be made were noted. Mean and standard deviation were used for quantitative variables. Frequency and percentages were used for qualitative variables. Results: Mean age of the study sample was 45±9 years (range 2 -64 years). There were 66 (56.89%) males and 50 (43.10%) females. No specific diagnosis could be made in 36 (31.03%) cases of hepatosplenomegaly. In remaining 80 (68.96%) cases a definitive diagnosis could be made on examining bone marrow aspiration. So the diagnostic utility of bone marrow aspiration examination was 68.96%. Conclusion: Bone marrow aspiration is valuable and diagnostically important tool for workup of cases of hepatosplenomegaly.