Combined factor V Leiden and prothrombin genotyping in patients presenting with thromboembolic episodes.

BACKGROUND: Several genetic defects are associated with increased risk of venous thrombosis. The factor V Leiden (FVL) and prothrombin G20210A mutations are the most frequent causes of inherited thrombophilia. OBJECTIVES: To evaluate combined genotyping for these 2 mutations in patients presenting with thromboembolic episodes and to correlate genotypic findings with clinical characteristics. RESULTS: Blood specimens were collected from 401 patients presenting with thromboembolic disease between January 1998 and September 1998, and genotyping for both FVL and prothrombin mutations was performed. Thirty-two patients (8%) were heterozygous for FVL, 4 (1%) were homozygous for FVL, and 20 (5%) were heterozygous for the prothrombin mutation. Two cases (0.5%) were identified with combined FVL and prothrombin mutations. The most common clinical presentation was lower-extremity deep vein thrombosis with or without pulmonary embolism. Arterial events were rare. The thromboembolic episodes were often precipitated by additional risk factors. Recurrent disease was found in 73.9% of FVL carriers and 52.9% of prothrombin mutation carriers; 52% of the patients with FVL and 50% of prothrombin mutation carriers had a first thrombotic episode before age 45 years. The 2 cases with combined genetic defects demonstrate amplified thrombotic risk. In the first case this was effected in thrombosis at a young age, and recurrence of thrombotic events even in the absence of precipitating factors. A complex interplay between genetic and additional risk factors was seen in the second case. CONCLUSIONS: Identification of both FVL and prothrombin mutations is important in the overall assessment and management of patients with thrombophilia. Detection of these mutations can identify patients at high risk and help evaluate the interaction of genetic and acquired risk factors.

Ovarian micropapillary serous borderline tumors. Clinicopathologic features and outcome of seven surgically staged patients.

We report the clinicopathologic findings for 7 patients with completely staged ovarian micropapillary serous borderline tumors (MSBTs) to further clarify tumor behavior. None of the MSBTs had microinvasion in the ovarian neoplasm. The MSBT pattern constituted 25% to almost all of the neoplasm. Four were bilateral, and 6 involved the ovarian surface. Five patients had peritoneal implants; 2 were invasive, and 3 were noninvasive MSBTs. Distribution of stages among patients was as follows: IA, 1; IC, 1; IIC, 2; IIIB, 2; and IIIC, 1. Median follow-up was 8.5 years. Four patients were alive and well at the last follow-up visit, including 1 patient with stage IIIC (lymph node metastases) disease who had noninvasive implants (12 years after surgery). One patient who was free of disease died of complications of chemotherapy and abdominal surgery. Two patients died of intra-abdominal neoplastic growth (stages IIC and IIIB) 5 and 9 years after surgery, respectively; both had invasive implants. Without invasive peritoneal implants, MSBTs seem to behave as similar staged nonmicropapillary serous borderline tumors without invasive peritoneal implants. With invasive peritoneal implants, they seem to behave as low-grade carcinomas. Pathologists should recognize MSBT as a neoplasm that can have adverse prognostic features, including invasive peritoneal implants.