Résumé
We report a case of a 56-year-old woman with breast cancer, ovarian cancer, and diffuse large B-cell lymphoma with a BRCA1 gene mutation. Evidence is mounting that there is a large increase in the risk for hematologic malignancies among patients with genetic changes in the BRCA pathways. The genomic analysis demonstrated a frameshift mutation in the BRCA1 gene: 277_279delinsCC (Phe93fs). It is a novel BRCA1 mutation that has never been reported, and caused malignant lymphoma as well as breast and ovarian cancer.
Sujets)
Femelle , Humains , Adulte d'âge moyen , Région mammaire , Tumeurs du sein , Mutation avec décalage du cadre de lecture , Gène BRCA1 , Mutation germinale , Tumeurs hématologiques , Lymphomes , Lymphome B , Tumeurs de l'ovaireRésumé
Wegener's granulomatosis (WG) classically consists of necrotizing granulomatous inflammation of the upper and/or lower respiratory tract, necrotizing glomerulonephritis, and an autoimmune necrotizing systemic vasculitis affecting predominantly small vessels. We report a case of WG with central nervous system (CNS) involvement. WG is being diagnosed through pulmonary nodule biopsy. A small nodular lesion in the left posterior basal ganglia of brain being highly suspicious for granulomatosis was detected by MRI. After IV pulse cyclophosphamide and oral corticosteroid treatment for over 4 months, clinical manifestations and CNS lesions in brain MRI is improved. WG might have multiple granulomatous lesions which could be misdiagnosed due to malignancy. CNS involvement in WG is rare but careful evaluation is necessary when there are suspicious symptoms or lesions in CNS.
Sujets)
Noyaux gris centraux , Biopsie , Encéphale , Système nerveux central , Cyclophosphamide , Glomérulonéphrite , Inflammation , Poumon , Tumeurs du poumon , Métastase tumorale , Appareil respiratoire , Vascularite systémique , Granulomatose avec polyangéiteRésumé
We present a case of a 64-year-old woman with acute myeloid leukemia who developed a hepatic abscess during the neutropenic period after induction chemotherapy. To treat the abscess, meropenem and ciprofloxacin were administered to target Klebsiella pneumoniae and percutaneous drainage performed. As a result, the patient's fever and c-reactive protein (CRP) subsequently improved. After six weeks of antibiotic therapy, an abdominal computed tomography scan revealed remains of the liver abscess as well as an ileus in the small bowel. Molds from the Mucor genus were cultured from repeated liver abscess drainage and an abscess wall biopsy confirmed hepatic mucormycosis. Along with administration of amphotericin-B deoxycholate for four weeks, we performed lobectomy for hepatic mucormycosis and small bowel resection for a suspected small bowel mucormycosis. After these operations, the patient received liposomal amphotericin B for three weeks and was then maintained with oral posaconazole for more than four weeks. Our case report suggests that hepatic mucormycosis should be considered when a hepatic abscess exhibits a retarded response to antibacterial agents, especially for patients with risk factors. In addition, because an isolated hepatic mucormycosis is infrequent, a thorough search for the extent of the disease is necessary before surgical resection.