[Effect of single nucleotide polymorphisms of RS1799937 located in WT1 gene on the pathlogical complete response to neoadjuvant chemotherapy in breast cancer patients].

Objective: To evaluate the association between single nucleotide polymorphisms (SNPs) of RS1799937 located in WT1 gene with complete response to neoadjuvant chemotherapy in breast cancer patients. Methods: 171 breast cancer patients with neoadjuvant chemotherapy were investigated to detect the RS1799937 polymorphism by sequenom method. The relationship between RS1799937 polymorphism and pathologic complete response (pCR) were analyzed by χ2 test and Fisher's exact test analysis. Predictors of pCR were analyzed using multivariate logistic regression analysis. Results: The frequency of CC, TC and TT genetype of RS1799937 was 50.3%, 41.5% and 8.2%. Of the 171 patients, pCR was achieved in 53 cases(30.9%) with CC allele 23 cases(26.7%), TC allele 23 cases(32.4%) and TT allele 7 cases(50.0%), however no statistical significant difference was observed (χ2= 3.156, P=0.204). RS1799937 polymorphism was associated with pCR in EC-T neoadjuvant therapy (χ2=6.660, P=0.033) but not in PE neoadjuvant therapy (χ2=0.473, P=0.873) cohort. Multivariate logistic regression analysis indicated that RS1799937 polymorphism, targeted therapy and clinical stage were independent predictors of pCR (P<0.05) in EC-T neoadjuvant therapy cohort. Conclusion: RS1799937 polymorphism was associated with pCR rate only in anthracycline and taxane-based neoadjuvant therapy, breast cancer patients with the rs1799937 TT allele were more likely to achieve pCR.

Clinicopathological features of thirty patients with primary breast lymphoma and review of the literature.

Primary breast lymphoma (PBL) is a rare disease accounting for 0.4-0.5 % of all breast malignancies. Accumulating evidence indicates that the diagnosis, prognostic factors, and optimal management of PBL are difficult. The present study aims to investigate the clinicopathological features and optimal treatment of PBL and to evaluate the institutional experience in this patient population. A total of 30 patients with PBL from January 2002 to December 2012 treated in He'nan Province Tumor Hospital were selected. The patients' clinical and pathological characteristics, treatment and response data, patterns of recurrence, and outcomes were retrospectively analyzed, and the relevant literatures were reviewed. All the cases were female, and the median age was 45. Diffuse large B cell lymphoma was the most common histological subtype seen in 23 of 30 patients. With a median follow-up time 32 months, median OS was 42 months (95 % CI 25-58 months), with 5-year OS rates 48 % (95 % CI 36-59 %). The median PFS was 14 months (95 % CI 6-30 months), with 5-year PFS rates 32 % (95 % CI 20-45 %). The prognostic factors that retained statistical significance for OS were IPI (P < 0.001), age (P = 0.04), and stage (P < 0.001). For PFS, significant prognostic factors were IPI (P = 0.01), radiotherapy given (P = 0.02) and stage (P = 0.02). PBL appears to have a worse prognosis. The present treatment method for PBL is a comprehensive way of diagnostic surgery together with radiotherapy and chemotherapy.

Relationship between gene mutations and protein expressions of PDGFR α and C-kit in gastrointestinal stromal tumors.

OBJECTIVE: To investigate the relationship between gene mutations and protein expressions of PDGFR α and C-kit in gastrointestinal stromal tumors (GIST) and its significance in tumorigenesis. METHODS: Single strand conformation polymorphism-polymerase chain reaction (PCR-SSCP), immunohistochemistry and Western blot were used to detect the gene mutations in PDGFR α and C-kit and their protein expressions in 105 cases of GIST specimens. RESULTS: In 105 cases of GIST, PDGFR α gene mutation was found in 12 cases (11.4%), which was common in the stomach- derived spindle cell GIST. C-kit gene mutation was found in 58 cases (55.2%), which was common in the small intestine. Mutations of PDGFR α is in 12 cases of GIST were stronger than the C-kit mutations in GIST, normal gastrointestinal tissues and schwannomas. No significant correlation was found between mutations and C-kit protein expression (P>0.05), while the protein expression of PDGFR α was significantly correlated with mutations (P<0.0001). CONCLUSION: Mutations of PDGFR α and C-kit plays an important role in part of GIST tumorigenesis. Mutation sites were related with original sites and histological types. Most protein expressions were closely related to their gene mutations in GIST.