Expression of c-kit protein in cancer vs. normal breast tissue.

AIM OF THE STUDY: There are at least four main signal transduction pathways within human cells which are activated by interaction of an extracellular ligand with its corresponding receptors. One of them is activation of protein kinase. Actually, any of these proteins at any level of the signaling cascade in a human cell can undergo mutation and cause irregular cellular proliferation and finally result in cancer. C-kit is alternatively called stem cell factor receptor (SCFR) or CD117. It appears that lack of c-kit expression accompanies progression of some tumors, e.g. lung, breast, GIST. The aim of this study was to evaluate C-kit protein expression level within cancer cases. MATERIAL AND METHODS: Sixty specimens of breast cancer and 60 non-cancerous breast tissue specimens were evaluated by IHC for C-kit presentation. We used positive GIST slides as controls. Epi-info ver 6.04 (CDC, WHO) was used for analysis. RESULTS: C-kit was negative in all breast cancer specimens. C-kit was negative in 47 (78%) of 60 non-cancerous breast tissue specimens, but was positive in 13 (22%) of them (p < 0.0001). CONCLUSIONS: There is a reduction in C-kit expression with malignant transformation of breast epithelium. C-kit is believed to play a role in breast carcinogenesis. However, we should follow patients with normal or benign breast tissue to indicate any correlation between C-kit presentation and breast cancer development.

alpha-thalassemia mutations in Khuzestan Province, Southwest Iran.

Although alpha-thalassemia (alpha-thal) is the most common hereditary hemoglobin (Hb) disorder in Iran, no comprehensive data are so far available on the prevalence of the disease in the province of Khuzestan in Southwest Iran. This study investigates the spectrum of alpha-thal mutations in this region. One hundred and twenty-one subjects from Khuzestan Province, Iran, were initially tested for the three most common Iranian alpha-thal mutations (- alpha3.7, -alpha4.2, and --MED) by gap-polymerase chain reaction (gap-PCR). Reverse hybridization test strips and DNA sequencing were used to identify additional alpha-globin mutations. A total of 131 mutated alpha-globin alleles were identified in these patients. Of the 13 mutations that were detected in Khuzestan Province, Iran, the - alpha3.7 single gene deletion was the most frequently identified variant, representing 62.6% of the total; we also observed significant numbers of individuals with compound heterozygous mutations. On the basis of our results, we strongly recommend screening for the most common mutations to improve the molecular diagnosis of anemia in this region.