eRF3a/GSPT1 12-GGC allele increases the susceptibility for breast cancer development.

It is now widely recognized that translation factors are involved in cancer development and that components of the translation machinery that are deregulated in cancer cells may become targets for cancer therapy. The eukaryotic Release Factor 3 (eRF3) is a GTPase that associates with eRF1 in a complex that mediates translation termination. eRF3a/GSPT1 first exon contains a (GGC)n expansion coding for proteins with different N-terminal extremities. Herein we show that the longer allele (12-GGC) is present in 5.1% (7/137) of the breast cancer patients analysed and is absent in the control population (0/135), corresponding to an increased risk for cancer development, as revealed by Odds Ratio analysis. mRNA quantification suggests that patients with the 12-GGC allele overexpress eRF3a/GSPT1 in tumor tissues relative to the normal adjacent tissues. However, using an in vivo assay for translation termination in HEK293 cells, we do not detect any difference in the activity of the eRF3a proteins encoded by the various eRF3a/GSPT1 alleles. Although the connection between the presence of eRF3a/GSPT1 12-GGC allele and tumorigenesis is still unknown, our data suggest that the presence of the 12-GGC allele provides a potential novel risk marker for various types of cancer.

An 18-year-old woman with a 34-cm metaplastic breast carcinoma.

Metaplastic breast carcinomas (MBCs) are rare malignancies usually with poor prognosis. We report a case of an 18-year-old African female patient who presented with a 34-cm tumor on the right breast. Biopsy showed an extensively necrotic MBC negative for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 (triple negative). A modified right radical mastectomy was performed, followed by adjuvant chemotherapy. Histology confirmed a widely necrotic undifferentiated malignant tumor, with strong and diffuse expression of vimentin and B-cell lymphoma 2, focal high-molecular-weight keratins and focal CD34 expression; Ki67 was >90%. There was no skin, deep margin or lymph node involvement. Six months after surgery, the patient showed a 9 × 7 cm nodule adjacent to the suture and adherent to the anterior chest wall. The tumor was considered unresectable and the patient evolved with rapid systemic deterioration. The patient had a progression-free survival of 6 months and overall survival of 9 months.

PP085. Hypertensive complication in pregnancy - HELLP syndrome - One year study (2012).

INTRODUCTION: HELLP syndrome is characterized by hemolysis with a microangiopathic blood smear, elevated liver enzymes, and low platelet count. It develops in 10-20% of women with severe preeclampsia/eclampsia. The syndrome is associated with maternal morbidities - DIC, renal failure, pulmonary edema and hepatic hematoma/rupture. Some need transfusions and others require laparotomies for intraabdominal bleeding. OBJECTIVES: Study the incidence and related risk factors of HELLP syndrome in Pregnancy, as well as the maternal/fetal outcome. METHODS: A retrospective study of admissions for HELLP syndrome in 2012.The statistical analysis was based on Excel 2007. RESULTS: In 55 admissions for hypertensive complications in pregnancy, 3 women had HELLP syndrome - 2 were black race and 1 was caucasian. The average maternal age was 29. None had relevant medical history. 2 of the women developed HELLP syndrome after severe preeclampsia. The fetal/neonatal outcomes were prematurity in 2 cases, birth weight average was 1798g and none had apgar-index below 7. There was no fetal death. Premature delivery occurred in 2 cases and all were by cesarean. Maternal complications that determined Intensive Care Unit Admission was recorded in one case - laparotomy for internal bleeding and transfusions were needed. No maternal death occured. CONCLUSIONS: HELLP syndrome is associated with many morbidities which risk increases with severity of symptoms/lab results. We had no aggresive/fatal outcomes.

PP086. Severe hypertensive complications in pregnancy - Two years study (2011-2012).

INTRODUCTION: There are major hypertensive disorders related to pregnancy-preeclampsia,eclampsia and HELLP syndrome. These women are at an increased risk for placental abruption,renal failure, cerebral hemorrhage,hepatic failure/rupture,pulmonary edema, DIC and of long-term cardiovascular disease. OBJECTIVES: Study the incidence, risk factors, maternal/fetal outcome of hypertensive complications that determined Intensive Care Unit admission. METHODS: A retrospective study of admissions in Intensive Care Unit for preeclampsia, HELLP syndrome and eclampsia in 2011-2012. RESULTS: There were 8 admissions in Intensive Care - 88% black women, average age was 20 years and all were nulliparous. 1 had an hypertension induced by pregnancy, but 63% had increased blood pressure in hospital admission. 50% had elevated liver enzymes, 25% proteinuria, 1 low platelet count and 1 had normal blood results. 50% of the admissions were due to eclampsia, 38% due to severe preeclampsia and 1 due to HELLP. Fetal/neonatal outcomes were prematurity in 25%, birth weight average was 2759g and none had apgar below 7. There was no fetal death. Vaginal delivery occurred in 25% and caesarian in 75%. Maternal complications were elevated blood pressure (75%), cardiorespiratory disorders (38%), encephalopathy (25%), renal disorder (13%) and convulsions (13%). There was no maternal death. CONCLUSION: The risk of adverse outcome increases with the severity of hypertension and organ damage. Early detection and appropriate management are essential.