Analysis of KIT mutations and c-KIT expression in Chinese Uyghur and Han patients with melanoma.

BACKGROUND: The KIT gene plays an important role in the pathogenesis of malignant melanoma (MM). In recent years, activating mutations in KIT have been recognized as oncogenic. A number of therapies have been established, which provide significant clinical benefits for patients with MM with KIT mutations. Thus, detection of KIT mutations can have profound therapeutic implications. AIM: To investigate KIT gene expression in MMs in Chinese Uyghur and Han patients with mutations in KIT, and to identify the clinical features associated with KIT mutations and c-KIT expression. METHODS: In total, 105 MMs (56 from Uyghur and 49 from Han patients) were selected from patients in the Uyghur Autonomous region. Formalin-fixed, paraffin wax-embedded tumour sections were analysed for c-KIT expression using immunohistochemistry. Exons 11 and 13 of KIT were analysed for the presence of mutations using PCR amplification and DNA sequencing. RESULTS: Of the 105 MMs, 13 (10 Han and 3 Uyghur) were found to have mutations in KIT. Thus, the frequency of KIT mutations in Han patients was significantly higher than that in Uyghur patients (P = 0.02). We detected c-KIT expression in 71.4% and 42.9% of the tumour tissue samples collected from the Uyghur and Han patients, respectively. CONCLUSION: In the Xinjiang Uyghur Autonomous Region in China, chronic sun-induced damage MM is the most prevalent MM among Chinese Uyghur patients, whereas acral and mucosal MMs are the most prevalent in Uyghur patients. Mutations in the KIT gene do not correlate with c-KIT expression.

Wnt1 and SFRP1 as potential prognostic factors and therapeutic targets in cutaneous squamous cell carcinoma.

The Wnt signaling pathway plays a key role in insurgence and progression of many different forms of cancer. Some crucial components of the Wnt pathway have been proposed to be novel targets for cancer therapy. To date, the Wnt signaling pathway has not been studied in cutaneous squamous cell carcinoma (CSCC). This study was designed to investigate the expression of Wnt1 and SFRP1 from the Wnt pathway in CSCC. Tissue samples were obtained from 35 patients with CSCC and 30 controls admitted to the Xinjiang Uygur Autonomous Region People's Hospital at Urumchi City, China. Gene and protein expressions of Wnt1 and SFRP1 were quantified by immunohistochemistry and western blotting. Wnt1 expression was significantly higher (P < 0.05) in CSCC samples than in normal skin cells of the control subjects; in contrast, SFRP1 expression was significantly lower in CSCC tissues than that in tissues of control subjects (P < 0.05). Moreover, Wnt1 expression (P < 0.05) was found to be correlated with histopathological differentiation in CSCC, and negatively correlated with SFRP1 expression in CSCC (rs = -0.473, P = 0.015). Therefore, we concluded that Wnt1 and SFRP1 play important roles in the development of CSCC and could be potent markers for diagnosis, prevention, and therapy of CSCC.

One hundred and five Kaposi sarcoma patients: a clinical study in Xinjiang, Northwest of China.

BACKGROUND: Kaposi's sarcoma (KS) is an unusual illness that may be associated with human herpes virus 8 (HHV-8) infections, and appears mainly in Jews, Italians and Greeks. There is a lack of patient data in Xinjiang regarding the clinical characteristics of KS. OBJECTIVES: To review the clinical characteristics of a series of patients with KS in Xinjiang, Northwest China, over 16-year period. METHODS: A retrospective analysis of patients referred to a Xinjiang hospital in Northwest China with classic KS (CKS) and AIDS-associated KS (AIDS-KS) between January 1997 and April 2013 was performed. Reviewed information included demographics, clinical features, histopathological traits, treatment and presence of HHV-8 infection. RESULTS: During the study period, 105 patients with a diagnosis of KS, including 77 CKS and 28 AIDS-KS, were referred to our hospital. Mean age at diagnosis was 55.8 ± 16.8 years (range: 25-85 years). There were 70 (90.9%) males and 7 (9.1%) females (male-to-female ratio: 10 : 1) having CKS and 21 (75.0%) males and 7 (25.0%) females (male-to-female ratio: 3 : 1) with AIDS-KS. Most of the patients were Uyghur, including 67 CKS and 24 AIDS-KS. The rate of multifocal lesions at diagnosis was 98.1% (103/105). The most common area of lesions was between 1% and 5% of CKS and AIDS-KS. The main types of lesions were nodules, patches and plaques. The lower extremity and foot were the most common locations for CKS and AIDS-KS. In addition to skin damage, the penis, mouth, lymph nodes and interstitial lung tissues were involved in some cases. No second primary malignancy was diagnosed. Systemic chemotherapy and radiotherapy were effective treatments for CKS. The HHV-8 positivity rate was 98.98% in 98 KS cases. CONCLUSIONS: In Xinjiang, most CKS and AIDS-KS patients were older Uyghur men. AIDS-KS was found predominantly among 30-year-old Uyghur patients, compared with 60 years for those having CKS. The latter exhibited certain characteristics such as disseminated skin disease; in some patients, the condition was accompanied by lymphedema, visceral or lymph node involvement, but no secondary malignancies. In addition, the HHV-8 positivity rate associated with KS was very high.