Megakaryocyte in Peripheral Blood Smears – A Report of Two Cases

Myeloproliferative neoplasm (MPN), a clonal hematopoietic stem-cell disorder, results from the proliferation of one or more hematopoietic series of cells like erythroid, granulocytic or megakaryocytic series. Megakaryocytes (MGK) are large polypoidal cells seen within bone marrow aspirate (BMA) smears. We are presenting here two cases of MGK in peripheral blood smears (PBS), one with MPN and the other in a case of chronic myeloid leukemia (CML) with blast crisis. MGK in PBS is rare and is not always associated with neoplasm. It can be due to increased MGK differentiation due to reactive etiology

Comprehensive mutations analyses of FTO (fat mass and obesity-associated gene) and their effects on FTO’s substrate binding implicated in obesity

An excessive amount of fat deposition in the body leads to obesity which is a complex disease and poses a generic threat to human health. It increases the risk of various other diseases like diabetes, cardiovascular disease, and multiple types of cancer. Genomic studies have shown that the expression of the fat mass obesity (FTO) gene was highly altered and identified as one of the key biomarkers for obesity. This study has been undertaken to investigate the mutational profile of the FTO gene and elucidates its effect on the protein structure and function. Harmful effects of various missense mutations were predicted using different independent tools and it was observed that all mutations were highly pathogenic. Molecular dynamics (MD) simulations were performed to study the structure and function of FTO protein upon different mutations and it was found that mutations decreased the structure stability and affected protein conformation. Furthermore, a protein residue network analysis suggested that the mutations affected the overall residues bonding and topology. Finally, molecular docking coupled with MD simulation suggested that mutations affected FTO substrate binding by changing the protein-ligand affinity. Hence, the results of this finding would help in an in-depth understanding of the molecular biology of the FTO gene and its variants and lead to the development of effective therapeutics against associated diseases and disorders

Fine needle aspiration cytology in fibromatosis

Fibromatosis form a spectrum of clinicopathologic entities characterized by the infiltrative proliferation of fibroblasts that lack malignant cytologic features. The fibromatosis can be localized or infiltrative and multicentric and can involve internal tissues and organs as the mesentery, retroperitoneum, breast, and almost every organ and region of the body, including the bones, the meninges and the central nervous system. We report a case of 37-year-old male who presented with a right supraclavicular mass with superficial infiltrative type of fibromatosis and fine needle aspiration cytology (FNAC) was performed. We report this case because of limited literature of FNAC in fibromatosis and quick role of FNAC in the diagnosis of fibromatosis

Mucinous carcinoma of breast: FNAC as effective diagnostic modality

Mucinous carcinoma of the breast in pure form comprises only 2% of all breast cancers. Pure mucinous carcinoma of the breast have better prognosis. They are usually having higher incidence in peri-menopausal and post-menopausal age group. We report a 32-year-old female, clinically suspected to have benign breast disease, diagnosed as mucinous carcinoma of the breast on FNAC. In such cases, there is always a high probability of missing the diagnosis at imaging because of the absence of established radiological signs of malignancy such as calcification and spiculation. In this case imaging was not helpful and diagnosis was ascertained by FNAC. This case further strongly substantiates, Fine needle aspiration cytology as rapid , highly sensitive and highly specific diagnostic investigation of choice for management of breast lumps . Asian Journal of Medical Science, Volume-3 No-3 (2012), Page -32-35 DOI: http://dx.doi.org/10.3126/ajms.v3i3.524

Diffuse Large B-Cell Lymphoma Relapsing in Leukaemic Phase Presenting as Acute Leukaemia

Diffuse large B-cell lymphoma (DLBCL) accounts for 30% to 40% of the newly diagnosed adult non-Hodgkin lymphomas, but rarely presents in leukaemic phase. Here in, we report a case of DLBCL presenting in leukaemic phase and masquerading as acute leukaemia. A 28-year-old woman presented to our outpatient department with complaints of fever for 1 week. Her peripheral blood smear showed 5% to 8% blasts. Bone marrow aspirate showed an infiltration by ~30% blasts. Flow cytometry and immunohistochemistry confirmed relapse of DLBCL. Also, patient’s poor response to therapeutic regimen for DLBCL prompted to consider second differential diagnosis of acute leukaemia. This case is a learning case, as it emphasizes the combined role of diagnostic ancillary techniques along with clinical judgments for management. The case also makes us more vigilant towards the pathobiology of DLBCL and dynamics of personalized individual treatment response