High-performance liquid chromatography (HPLC) is a technique introduced for the accurate diagnosis of hemoglobinopathies and thalassemias. The advantage of the HPLC system is the excellent resolution, reproducibility & quantification of several normal & abnormal hemoglobin resulting in accurate diagnosis of thalassemia syndromes. The purpose of this study is to evaluate the HPLC technique in diagnosis of thalassemia syndromes and also correlate it with clinicohematological profile in these cases. A total of 110 cases were diagnosed as thalassemias and hemoglobinopathies by Bio- Rad variant II HPLC system by β-thal short program. The retention times, proportion of the haemoglobin (%), and peak characteristics for all hemoglobin (Hb) fractions were recorded. Alkaline Hb electrophoresis was performed in each case. Other tests performed were HbF estimation by Betke's method, brilliant cresyl blue preparation for HbH inclusion bodies, sickling tests using 2 % metabisulphite and serum Ferritin estimation. Family studies were carried out wherever necessary. Of 110 cases included in the study, 87 cases were of thalassemic disorders and 23 cases were of hemoglobinopathies. Four Hb variants were identified including HbD, HbE, HbS, HbJ Oxford. There was a significant decrease in the level of HbA2 associated with iron deficiency anemia. The mean HbA2 levels in both iron deplete and iron replete groups were clearly >4 %, suggesting that HPLC identified nearly all high HbA2 β-thalassemia trait even in spite of iron deficiency.
Objective: Molecular genetic analysis of FLT3, NPM1, and CEBPA is already the standard of care in patients with acute myeloid leukaemia (AML) and represents the most frequent genetic alterations and important diagnostic and prognostic indicators. This study was undertaken to determine the frequency of FLT3 and NPM1 gene mutations in our institution and to characterize the association between gene mutations and haematological parameters as well as immunophenotypic features. Material and Method:Morphological, haematological and immunophenotypic characteristics of NPM1 and FLT3 mutations in 126 patients of de novo AML including adults and children were studied. Apart from the French American British (FAB) method for classification, blasts were assessed for cuplike morphology as per strict definition for cuplike nuclei, ≥10% blasts with nuclear invaginations ≥25% of the nuclear area.Results: FLT3 mutation in 31/126 (25%) and NPM1 mutation was found in 17/126 (13.4%) of the AML patients. 6 (5%) samples were positive for both NPM1 and FLT3/ITD mutations. Associations between the FLT3 and NPM1 gene mutations with haematological and immunophenotypic characteristics are reported. Conclusion:The results suggest that presence of distinct morphology and haematological and immunophenotypic characteristics together may serve as important indicators and surrogate for NPM1 and FLT3/ITD mutations. Further, comprehensive studies on the biological effects of NPM1 and FLT3/ITD mutations and their interactions with other genetic alterations are needed to gain insight into the molecular mechanism of these mutations involved in the pathogenesis of AML.
Hypertriglyceridemia in children can be familial or acquired. Acquired forms of hypertriglyceridemia in children may be associated with several other diseases obesity, diabetes mellitus, uremia/dialysis, hypothyroidism, nephrotic syndrome, drugs etc. Hypertriglyceridemia with b-thalassemia major is an association of unknown pathogenesis which is rarely described in the literature but is important to recognize, for the prevention of complications and proper management of thalassemic children.
Background: Skeletal tuberculosis constitutes about 1% of all tubercular cases. It usually affects the spine and long bones. Tubercular osteomyelitis of skull is a rare entity and therefore diagnosis is not suspected. Skull bones usually involves secondarily from the lung or lymph node focus. Biopsy in these cases confirms the diagnosis. Case Report: A 20 year male patient presented with gradually progressive headache, with multiple episodes of seizures. Magnetic resonance imaging (MRI) brain revealed heterogeneously enhancing extra-axial bi-frontal convexity mass lesion. Histopathology showed necrosis and many caseating as well as non-caseating well defined epithelioid granulomas. Conclusion: A high index of suspicion is important to recognize tuberculous involvement of the skull. Biopsy confirms the diagnosis.
Plasmablastic lymphoma (PBL) is a rare aggressive neoplasm characterized by diffuse proliferation of large neoplastic cells with plasma cell immunophenotype. Cell of origin of PBL is believed to be a postgerminal center B-lymphocyte or plasmablast. The malignant cells in PBL usually do not express CD20 (B cell marker) but do express markers of plasmacytic differentiation, such as CD38, CD138, or MUM1/IRF4, akin to plasma cell myeloma (PCM). PBL though originally described in the oral cavity, has now been found to occur in extraoral locations as well. Small intestine as a site of PBL has been described very rarely. PBL remains a diagnostic challenge given its overlapping morphologic and immunophenotypic features with other high grade lymphomas and PCM. We report a rare case of PBL of small intestine in a 48 years old HIV infected male patient. To the best of our knowledge this represents sixth case in the literature described in this location. An unusual rare pattern of CD138 positivity by IHC is also reported along with extensive review of literature of PBL in extraoral locations. /L. CECT scan of abdomen revealed circumferential diffuse wall thickening of jejunal loop and enlarged mesenteric lymph nodes (Fig. 1). After preoperative evaluation he underwent explorative laparotomy, resection of small bowel with end to end anastomosis and omentectomy. Case ReportScreening tests for HIV I & II done by enhanced chemiluminescence method were reactive with test values being 85.1 (C1.0 reactive, gray zone 0.9-0.99,\0.9 non reactive). Absolute CD3, CD4 and CD8 counts and percentages were assessed by flow cytometry (FCM) technique as showed in Table 1. Serum LDH and Uric acid levels were 702U/L (normal range 208-320U/L) and 4.7 mg/dl (normal range 3.5-7.2 mg/dL). Human immunodeficiency virus (HIV)-viral load as estimated by RT-PCR was 1,536,000 copies/ml (lowest limit of detection 40 copies/mL). Patient underwent explorative laparotomy, resection of small bowel, end to end anastomosis and omentectomy.We received a segment of small intestine measuring 55 cm in length. On cutting open, an ulceroproliferative lesion measuring 7.5 9 3 9 1.5 cm was identified. The lesion was involving the intestine circumferentially. Corresponding serosal surface was irregular. The fat along mesenteric border appears involved. Omentum measured 35 9 5 9 2 cm and showed firm grey white areas.Microscopic examination showed a tumor composed of large to intermediate sized lymphoid cells in sheets infiltrating the full thickness of bowel wall extending into adjacent fat with serosal involvement. The cells were large with round nuclei with small to prominent nucleoli and scanty cytoplasm ( Fig. 2A). Some cells showed plasmacytoid morphology.
Langerhans cell histiocytosis (LCH) is a rare disease characterized by clonal neoplastic proliferation of normal antigen presenting cell (APC), the Langerhans cell. Most cases occur in childhood and the disease is rare in adults. LCH can involve solitary organ or can present as a multi-system disease in children. In adults, isolated pulmonary LCH is the commonest presentation. Tonsillar infiltration as a sole manifestation is extremely rare. We herewith report a case with isolated tonsillar involvement by LCH in an adult patient.
Introduction:Acute myeloid leukemia (AML) is a heterogeneous group of disorders classified as per FAB subtypes and more recently by WHO by underlying genetic abnormalities.Aims and Objectives:This study aims to analyze the morphology, immunophenotype, cytogenetic and molecular abnormalities in around 200 patients of AML diagnosed over a period of 7 years at our institute and to determine relative frequency of various subtypes (based on FAB and WHO classification). An attempt to characterize the associations between hematological parameters, immunophenotype and these subtypes was also made.Materials and Methods:All cases diagnosed as AML on morphology, cytochemistry and/or immunophenotyping and tested for recurrent genetic abnormalities during period of Jan 2008-July 2014 were included in the study.Results:Age of presentation was younger in our AML patients as compared to western literature. Amongst FAB and WHO subtypes, M2 and t (15;17) PML-RARA were the most common groups respectively. As expected, CD33, CD13, were the most commonly expressed markers followed by HLA-DR, CD117, CD34 and CD14. Aberrant expression was seen in 62(41.6%) cases, most common was CD7 (15.4%), followed by CD56 (14.8%), CD19 (6.7%) and CD2 (4.7%). Significant associations between immunophenotypic markers and FAB subtypes as well as WHO subtypes were established.Conclusion:This is a hospital based study, giving a detailed account of frequencies of AML subtypes, hematological parameters and immunophenotypic markers in AML patients at our institute. Being a large and one of its kind study to establish significant associations between various haematological and immunophenotypic parameters with respective AML subtypes and genetic abnormalities, it might prove to be very useful in Indian setup where facilities for cytogenetic analysis are not available in many laboratories.
Background Plasmablastic lymphoma (PBL) is a rare aggressive B cell lymphoma that is commonly encountered in patients with human immunodeficiency virus (HIV)/acquired immunodeficiency syndrome (AIDS). In this case series, we describe the clinicopathological features of cases of PBL seen at a tertiary care center in South India. Materials and Methods Medical records of patients diagnosed with PBL between January 2009 and November 2017 were reviewed. PBL was defined as per the World Health Organization 2016 classification for hematopoietic and lymphoid neoplasms. The slides were reviewed with hematoxylin and eosin along with immunohistochemistry (IHC) including CD45, CD20, PAX5, CD79a, CD3, CD5, CD138, MUMI, EMA, ALK, and Ki67. Epstein-Barr virus (EBV) association was documented by rapid in situ hybridization (RISH) studies wherever possible. The demographic data, clinical presentation, treatment details, and outcomes are elaborated using descriptive statistics. Results During the study period, nine patients with PBL were identified. The median age at presentation was 47 years (range: 36–54 years). All patients had associated HIV/AIDS, eight (89%) had extranodal disease, and six (66%) had advanced clinical stage (stage III). All biopsies were positive for CD45, CD138, and MUM1, and negative for CD79a and T cell markers with a high Ki67 proliferation index (85–90%); CD20 was faint positive in one patient, and CD56 was positive in one (11%) patient. EBV-RISH was tested in two patients and was positive in one. Bone marrow was uninvolved in all the cases. At the time of last follow-up, three patients were alive. Treatment details were available in six patients. With frontline therapy, four patients achieved a complete remission (CR) and one patient developed progressive disease. Three of four patients in CR are alive till the last follow-up. Conclusion PBL is a rare form of lymphoma with predominant association with HIV, extranodal location, and characteristic IHC pattern.
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