Clinicopathological significance of PTEN and bcl2 expressions in oral squamous cell carcinoma

A high frequency of mutations at the PTEN locus has been noticed in carcinoma of oral. However, the role of PTEN alternations and its association with outcome variables in the genesis of oral carcinoma is not understood fully. The purpose of our study was to examine the impact of PTEN and Bcl2 in the genesis of Squamous cell carcinoma of oral. Total numbers of 60 histopathologically confirmed cases of Squamous Cell Carcinoma and 15 cases of inflammatory lesion of oral specimens were studied. We assessed PTEN and bcl2 overexpression by the use of anti-PTEN and anti-bcl2 antibody through immunohistochemistry as directed by the manufacturer. There was progressive loss of PTEN expression from inflammatory lesion to OSCC (p<0.05). Significant differences were found for PTEN expression between inflammatory lesion and OSCC. The difference in expression pattern of PTEN in gender did not reach statistical significance (p>0.05). The expression of bcl2 was found to be restricted to tumor cells in well and moderately differentiated tumors. The intense expression of bcl2 was observed throughout the tumor cell in poorly differentiated tumors.The Overexpression of bcl2 and loss of PTEN expression were correlated to poor differentiation, lymph node involvement and late stages. Thus, alteration of PTEN and bcl2 is likely an important molecular event in pathogenesis and carcinogenesis of oral carcinoma.     

Nitrogen mustard gel-induced inflammation triggers lymphomatoid papulosis in patients with mycosis fungoides

Lymphomatoid papulosis (LyP) is a paraneoplastic primary cutaneous CD30⁺ lymphoproliferative disorder (LPD) that has been associated with malignant lymphomas, most commonly mycosis fungoides (MF). We observed 10 patients with MF who developed severe inflammation after using nitrogen-mustard (NM) gel from 1 to 8 months and who developed LyP. We hypothesized that NM gel produced local inflammation, which induced CD30 expression in malignant T cells in situ leading to the appearance of LyP papules. The high frequency of induction of LyP lesions in patients with severe inflammation while on treatment with NM gel suggests an association between inflammatory stimuli and development of LyP. Our observation provides insight into the pathogenesis of CD30⁺ LPD.     

Molecular Characterization of β-Thalassemia Mutations Via the Amplification Refractory Mutation System-Polymerase Chain Reaction Method at the North Waziristan Agency,Pakistan

β-Thalassemia (β-thal) is a monogenic disease characterized by mutations on the HBB gene, affecting the production of globin that results in hypochromic and microcytic anemia. The aim of this study was to determine the prevalence of six common β-thal mutations, and their frequency and inheritance pattern in affected populations of North Waziristan Agency, Pakistan. In this study, 130 blood samples from 37 unrelated β-thalassemic families having a minimum of one transfusion-dependent child with β-thal major (β-TM), were retrieved either from the Thalassaemia Centre for Women and Children Hospital Bannu or their home towns situated in Noth Waziristan Agency. All samples were analyzed by the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) using six allele-specific primers for the presence of the six β-thal mutations common in the Pakistani population. Of the six common mutations, our study demonstrated five HBB mutations comprising HBB: c.27_28insG, HBB: c.92+5G>C, HBB: c.126_129delCTTT, HBB: c.92+1G>T and HBB: c.17_18delCT from the families studied, while mutation HBB: c.47G>A [codon 15 (G>A)] was not detected in any of the studied families. Furthermore, the HBB: c.27_28insG and HBB: c.92+5G>C were noted to be the most common with frequencies of 42.85 and 31.42%, respectively. The findings of the present study may be useful in launching carrier screening and prenatal diagnosis (PND) programs by screening analyzed and other unanalyzed affected families for the possible presence of common mutations through the ARMS-PCR technique that will help to control the disease.