DNA Mismatch Repair-Deficient Colorectal Carcinoma: Referral Rate for Genetic Cancer Risk Assessment in a Brazilian Cancer Center.

BACKGROUND: Approximately 15% of colorectal cancers (CRCs) are deficient in DNA mismatch repair proteins (dMMR), a characteristic that can occur in both sporadic and hereditary CRC. Due to sparse studies on dMMR CRC in the Brazilian population, we conducted a retrospective analysis of referral rates for Genetic Cancer Risk Assessment of this population and also describing clinical and molecular characterization of these tumors. METHODS: A retrospective, longitudinal, and unicenter study that included patients with dMMR CRC detected by IHC analysis from Pathology Database of our institution, from January 2015 to July 2017. RESULTS: MMR IHC testing was performed in 998 CRC tumors, and 78 tumors (7.8%) had dMMR. The mean age at diagnosis was 56.8 years (17-90), and most patients were female (41 out of 78, 52.6%). Of the 52 patients with right-sided CRC, 40 tumors (77%) had loss of the MLH1 and/or PMS2 expression, and 12 tumors (23%) had loss of MSH2 and/or MSH6 expression (p = 0.005). From 78 patients with dMMR CRC, only 43 patients (55.1%) were referred for genetic counseling (GC), and of them, only 33 patients (76.7%) really went to GC consultation. A total of 21 patients with dMMR CRC performed genetic testing. CONCLUSION: Overall, genetic referral was less than expected in our population. Most of dMMR CRC patients did not receive GC, even in a cancer center, either due to the absence of referral or personal decision and few patients who pursued genetic counseling performed genetic testing.

EGFR amplification and expression in oral squamous cell carcinoma in young adults.

The aim of this study was to investigate epidermal growth factor receptor (EGFR) gene alterations in two groups of patients with oral squamous cell carcinoma (OSCC) (a test group of subjects aged ≤40 years and a control group of subjects aged ≥50 years) and to associate the results with EGFR immunostaining, clinicopathological features, and the prognosis. Sixty cases of OSCC were selected (test group, n=21; control group, n=39). The tissue microarray technique was applied to ensure the uniformity of results. Gene amplification was analyzed by fluorescence in situ hybridization (FISH), and immunohistochemical staining for EGFR was analyzed using an automated imaging system. EGFR amplification was higher in the test group than in the control group (P=0.018) and was associated with advanced clinical stage (P=0.013), regardless of age. Patients with EGFR overexpression had worse survival rates, as did patients who had T3-T4 tumours and positive margins. EGFR overexpression has a negative impact on disease progression. Despite the higher amplification of EGFR in young adults, it does not significantly impact the survival rates of affected patients.

Extended preoperative chemotherapy, extent of liver resection and blood transfusion are predictive factors of liver failure following resection of colorectal liver metastasis.

AIM: The aim of this study was to determine the incidence and prognostic factors of postoperative liver failure in patients submitted to liver resection for colorectal metastases. METHOD: Patients with CLM who underwent hepatectomy from 1998 to 2009 were included in retrospective analysis. Postoperative liver failure was defined using either the 50-50 criteria or the peak of serum bilirubin level above 7 mg/dL independently. RESULTS: Two hundred and nine (209) procedures were performed in 170 patients. 120 surgeries were preceded by chemotherapy within six months. The overall morbidity rate was 53.1% and 90-day mortality was 2.3%. Postoperative liver failure occurred in 10% of all procedures, accounting for a mortality rate of 9.5% among this group of patients. In multivariate analysis, extent of liver resection, need of blood transfusion and more than eight preoperative chemotherapy cycles were independent prognostic factors of postoperative liver insufficiency. This complication was not related with the chemotherapy regimen used. CONCLUSION: We conclude that postoperative liver failure has a relatively low incidence (10%) after CLM resection, but a remarkable impact on postoperative mortality rate. The amount of liver resected, the need of blood transfusion and extended preoperative chemotherapy are independent predictors of its occurrence and this knowledge can be used to prevent postoperative liver failure in a multidisciplinary approach.

Prognostic factors in pelvic exenteration for gynecological malignancies.

OBJECTIVES: Analyze morbidity, mortality and prognostic factors after pelvic exenteration (PE) for gynecological malignancies. METHODS: We reviewed a series of 107 individuals who underwent PE at A.C. Camargo Cancer Hospital from August 1982 to September 2010. RESULTS: Median age was 56.4 years. Primary tumor sites were uterine cervix in 73 cases (68.2%); vaginal, 10 (9.3%); endometrial, 14 (13.1%); vulvar, 7 (6.5%); and uterine sarcomas, 3 (2.8%). Median tumor size was 5.5 cm. Total PE was performed in 56 cases (52.3%), anterior in 31 (29.9%), posterior in 10 (9.3%) and lateral extended in 10. Median operation time, blood transfusion and hospital stay length were 420 min (range: 180-780), 900 ml (range: 300-4500) and 13 days (range: 4-79), respectively. There was no intra-operative death. Fifty-seven (53.3%) and 48 (44.8%) patients had early and late complications, respectively. Five-year progression free survival (PFS), overall survival (OS) and cancer specific survival (CSS) were 35.8%, 27.4% and 41.1%, respectively. Endometrial cancer had better 5-year OS (64.3%) than cervical cancer (23.1%). Lymph node metastasis negatively impacted PFS, CSS and OS. Presence of perineural invasion negatively impacted PFS and CSS. No variable retained the risk of recurrence or death in the multivariate analysis. CONCLUSIONS: PE has acceptable morbidity and mortality and may be the only method that can offer long-term survival in highly selected patients.

Bilateral renal metastases from osteosarcoma - a case report and review of the literature

Improvements in multimodal therapy for osteosarcoma (OS) have increased event-free and overall survival. But have also led to a greater number of recurrences in uncommon sites. We report a young adult with OS who developed late bilateral renal relapse. Late recurrences to the kidneys have a more aggressive clinical behavior and poor prognosis documented by 15 cases of OS metastastic to the kidney in the literature. Two of those patients had a long survival after chemotherapy and surgery. This suggests that the disease can be controlled with early detection and treatment.

Antigen retrieval methods and estrogen receptor immunoexpression using 1D5 antibody: a comparative study.

Long-term formalin tissue fixation results in antigen masking, probably through aldehydic linkage between proteins and fixative molecules. Immunohistochemistry results depend on the type of the detection procedure and the type of antibody used for the reaction. Considering the difficulty in working with estrogen receptor (ER) antibodies and the lack of standardization of the antigen retrieval methods, we quantified the immunoexpression of ER using the 1D5 antibody and a standard streptavidin-biotin detection procedure retrieving with microwave oven, steamer, pressure cooker, and water bath in a set of SBR grade 2 invasive breast carcinomas. Pressure-cooking provided the best results. No significant differences were observed in using the other methods. Pressure-cooking should be recommended as the method of choice for standardization of the ER immunohistochemical reaction.