Rapid and Durable Response With Nab-Sirolimus After Everolimus Failure in a Patient With Perivascular Epithelioid Cell Tumors (PEComas) of the Uterus.

Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors with a natural history ranging from indolent benign lesions to ones with an aggressive clinical course including distant metastases. Recent reports have suggested that mTOR inhibitor sirolimus and related drugs show some benefit in non-tuberous sclerosis complex PEComas. However, therapeutic options for patients who progress on sirolimus are very limited. We describe a patient with metastatic uterine PEComa, who progressed on mTOR inhibitor everolimus but had a rapid and durable response to nab-sirolimus.

Red Blood Cell Exchange in a Patient With Extramedullary Hematopoiesis and Cor Pulmonale Secondary to Beta Thalassemia.

RATIONALE: Beta thalassemia is a congenital defect in the production of the beta globin chain. Patients with beta thalassemia major will have higher levels of hemoglobin F (HbF), which is suboptimal in releasing oxygen to tissue. Herein, we describe the use of red blood cell (RBC) exchange transfusion, a therapy typically used in sickle cell patients, in the management of a patient with beta thalassemia with extensive extramedullary hematopoiesis and elevated levels of HbF. Patient concerns: A 34-year-old male of mixed African American and Southeast Asian descent with a known history of beta thalassemia major presented with progressive dyspnea on exertion with marked fatigue. Diagnoses: The patient was transferred to our facility for management of acute hypoxemic, hypercapnic respiratory failure associated with cor pulmonale. INTERVENTIONS: The patient was initially managed with non-invasive positive pressure support ventilation (NIPPV) and intravenous diuresis. Hydroxyurea and epoprostenol nebulization were added to his treatment regimen; however, he progressively became more unstable, necessitating inotropic support. With extramedullary hematopoiesis leading to mass-like effect on critical organs and very high HbF (96%) thought to contribute to his presentation, red blood cell exchange transfusion was initiated once the blood pressure stabilized. OUTCOMES: The patient clinically improved, and was discharged home within a week on supplemental oxygen by nasal cannula and long-term red blood cell exchange. LESSONS: We postulated that significantly elevated HbF contributed to the patient's chronic hypoxia and subsequent respiratory complications. Based on the patient's clinical improvement following the intervention, we believe that RBC exchange transfusion could be considered in the management of beta thalassemia patients with significantly elevated levels of HbF.

HPV-16-associated lymphoepithelial-like carcinoma mimicking rectal tonsil.

Lymphoepithelial-like carcinoma is a rare malignancy characterized by lack of cellular differentiation and associated nonneoplastic lymphoplasmacytic cell infiltrate that is rarely seen in the colon. Although many cases are associated with EBV infection, HPV may be present in LELC arising in sites known for HPV-driven malignancies, like the anogenital region. We report a case of lymphoepithelial-like carcinoma mimicking a rectal tonsil in a 51-year-old female. Attentive evaluation must be taken to identify this tumor in locations where prominent lymphoid stroma is an expected finding.

Atypical haemolytic uremic syndrome secondary to acute pancreatitis: a unique presentation.

Atypical haemolytic uraemic syndrome (aHUS) is a disease of complement dysregulation and can be fatal if not treated in a timely manner. Although normally associated with triggers such as infection or pregnancy, this case demonstrates acute pancreatitis as the triggering event. The patient's initial presentation of thrombocytopaenia and acute renal failure was first attributed to a systemic inflammatory response syndrome due to pancreatitis, but with detailed history and further laboratory investigation, we were able to show that patient was having symptoms associated with aHUS. On early recognition of aHUS, this patient was able to receive the proper standard of care with eculizumab and had a full recovery while preventing renal failure. When patients present with thrombocytopaenia and renal failure in acute pancreatitis, we want to ensure physicians keep aHUS on the differential.

Treatment of multifocal Bowen's disease in immunocompromised women with surgery and topical imiquimod.

BACKGROUND: In human immunodeficiency virus (HIV)-infected women, Bowen's disease may be difficult to treat successfully with surgery alone. Imiquimod cream, effective in treating Bowen's disease in healthy women, may be a useful postsurgical treatment in immunocompromised women. CASES: Two HIV-infected women had both Bowen's disease and severe cervical dysplasia. In both cases, Bowen's disease, but not cervical dysplasia, recurred after surgical treatment. When treated with topical 5% imiquimod cream twice weekly for 4 months, 70-80% reduction in lesions were observed in both patients. Follow-up biopsies of remaining lesions were vulvar intraepithelial neoplasia 1. CONCLUSION: Imiquimod cream, in combination with surgical treatment, may be an appropriate strategy for treatment of Bowen's disease in HIV-infected and other immunocompromised women.