Testing for BRCA1 mutation has important clinical implications such as identifying risk of second primary cancers and risk of cancer in the family. This study seeks to quantify the risk of having BRCA1 mutation in female breast cancer patients with triple-negative phenotype compared with those with other phenotypes. We undertook a search of MEDLINE and EMBASE databases for relevant studies through 10 May 2013. Outcomes were calculated and reported as risk ratio and risk difference. 12 studies comprising 2533 breast cancer patients were included in the analysis. It was found that almost all eligible studies were performed on high-risk population with breast cancer. By analyzing the incidence rates of BRCA1 mutation in patients with triple-negative breast cancer (TNBC) and non-TNBC, our meta-analysis provides a relative risk of 5.65 [95% confidence interval (CI), 4.15-7.69] and risk difference of 0.22 (95% CI, 0.15-0.29). This implies that, in selected population with high-risk features, women with TNBC are approximately five and a half times more likely to have BRCA1 mutation compared with non-TNBC phenotype, and approximately two in nine women with TNBC harbor BRCA1 mutation. Triple-negative phenotype significantly increases the risk of having BRCA1 mutation in high-risk breast cancer patients compared with non-TNBC.

Idiopathic thrombotic thrombocytopenic purpura (TTP) occurs primarily due to the formation of autoantibody against ADAMTS13, a specific von Willebrand factor-cleaving protease, resulting in low ADAMTS13 activity and subsequent accumulation of large vWF multimers, platelet aggregation and thrombus formation in the microvasculature of tissues. Limited clinical data suggest that the administration of anti-CD20 antibody (rituximab) may be useful in treating acute refractory or chronic relapsing idiopathic TTP. We carried out a systematic review with pooled data analysis using individual patient data to evaluate the efficacy of rituximab in these settings. Fifteen case series and 16 case reports comprising 100 patients were eligible for the study. Median age was 39 years. Male constituted 31 % and female 69 %. Complete remission was seen in 98 %, non-response in 2 % and relapse after complete remission in 9 %. For patients with complete remission, median follow-up was 13 months. Median platelet recovery from the first dose of rituximab was 14 days. ADAMTS13 inhibitor positivity and severe ADAMTS13 deficiency were highly predictive of the response to rituximab, implying that these can be useful markers in predicting response to rituximab in acute refractory or chronic relapsing idiopathic TTP.

Leiomyomatosis peritonealis disseminata (LPD) is a rare entity that is characterized by the presence of multiple subperitoneal or peritoneal smooth muscle nodules throughout the peritoneal surface mimicking a malignant process. LPD follows a benign course in general, and it is often found incidentally during abdominal surgery. There have been reported cases of LPD with malignant degeneration although the association is uncertain. Concurrent finding of LPD and leiomyosarcoma of the pelvis is very rare that could be coincidental, malignant transformation of LPD to leiomyosarcoma, or progression of undetected primary leiomyosarcoma. There are only a few previously reported cases in the literature. Herein, we report a case of 56-year-old woman with a history of leiomyoma of uterus who presented with progressive abdominal swelling secondary to mass lesions in the pelvis. The patient underwent exploratory laparotomy and debulking of the tumors, and the histologic examination of the tumors revealed coexistence of LPD and leiomyosarcoma. After recovery from the operation, core needle biopsy of the superficial, residual liver mass was obtained to investigate potential liver metastasis, and the histopathologic findings are consistent with leiomyoma which represents the first simultaneous occurrence of LPD, leiomyosarcoma, and leiomyomatous nodule of the liver.

No abstract

As vascular thromboembolism (VTE) is a leading cause of death in cancer patients, it has been postulated that primary thromboprophylaxis (PTP) in cancer patients might improve survival by reducing VTE occurrence. We performed a systemic review and meta-analysis of randomized controlled trials (RCTs) to investigate the benefit and risk of PTP with low-molecular-weight heparins (LMWHs) in ambulatory advanced pancreatic cancer (APC) patients receiving chemotherapy. We undertook a literature search using MEDLINE and EMBASE databases through May 2015. RCTs with reduction in symptomatic VTE as a primary or secondary endpoints were included. Mantel-Haenszel method was used to estimate the pooled event-based risk ratio as well as the pooled absolute risk difference with 95% confidence interval (CI). Seven hundred and thirty-eight APC patients were eligible for analysis. PTP lasted 3-6 months. The crude VTE incidence was 2.1 and 11.2% in LMWH and in control groups, respectively (risk ratio, 0.18; 95% CI, 0.083-0.39; P < 0.0001). The absolute risk difference in VTE was -0.092 (95% CI, -0.127 to -0.057; P < 0.0001), with an estimated number needed to treat of 11 patients to prevent one symptomatic VTE event. The pooled risk ratio for major bleeding was 1.25 (95% CI, 0.48-3.3, P = 0.65). Although these findings are encouraging to deploy PTP in APC patients receiving chemotherapy, uncertainties remain as to its survival benefit, optimal PTP duration, type and dose of LMWH, and costs of care. Therefore, adequately powered randomized phase III studies are warranted to address these questions.

Traditional anticoagulants, such as warfarin and enoxaparin, have several limitations, including parenteral administration, need for laboratory monitoring, and ongoing dose adjustment, which may limit optimal patient care. Newer oral anticoagulants, such as direct thrombin inhibitors (e.g., dabigatran etexilate) and direct factor Xa inhibitors (e.g., rivaroxaban, apixaban, and edoxaban), have been developed to overcome these drawbacks, and thereby improve patient care. Several of these agents have been approved for use in the prevention and treatment of venous and/or systemic thromboembolism. The objective of this paper is to provide an overview of the available clinical trial data for these new oral anticoagulants in the prevention and treatment of venous thromboembolism and a practical update for clinicians.

We report a case of heparin-induced thrombocytopenia with thrombosis type 2 (HITT 2) that was first complicated by intracerebral hemorrhage (ICH) and later by deep venous thrombosis (DVT). HITT 2 was initially managed conventionally with argatroban, which was stopped when ICH was discovered. The size of ICH increased despite attempts to increase platelet count by platelet transfusions. At this point of the clinical dilemma, plasma exchange was utilized effectively to recover the platelet count and deter ICH progression. The clinical course was later complicated by DVT, for which fondaparinux was given. This case represents a rare clinical scenario of HITT 2 resulting in progressive ICH that excluded the use of antithrombotic agents as part of HITT therapy. We believe that the use of plasmapheresis as a salvage procedure in such situations is effective and life-saving. Physicians should be aware of plasmapheresis as a therapeutic option in HITT 2 in cases in which anticoagulation is contraindicated.

Patient: Female, 74Final Diagnosis: Acute coronary syndromeSymptoms: Throat painMedication: —Clinical Procedure: Percutaneous coronary interventionSpecialty: CardiologyObjective:Challenging differential diagnosisBackground:Acute coronary syndrome (ACS) is a common and potentially life-threatening condition encountered in emergency departments. Despite its dreaded nature, nearly one-third of ACS present without chest pain and may mislead clinicians. Additionally, Wellens’ syndrome is a pre-infarction stage of significant proximal left anterior descending (LAD) artery stenosis, which can lead to extensive anterior wall myocardial infarction without timely intervention.Case Report:We report the case of a 74-year-old woman presenting with isolated throat pain and Wellens’ pattern in the initial EKG, which prompted the proper workup and management. Subsequently, coronary angiogram revealed more than 90% occlusion of the proximal LAD artery, and a drug-eluting stent was deployed. The patient did well after the procedure and the follow-up at 2 weeks after discharge was uneventful.Conclusions:This case highlights the importance of awareness of atypical presentation of ACS and importance of Wellens’ syndrome. We also discuss the incidence of craniofacial symptoms of ACS, and the epidemiology, pathophysiology, management, and prognosis of Wellens’ syndrome.