RESUMO
Glomus tumor are rare mesenchymal neoplasm, belonging to the pericytic (perivascular) tumor family, witch recent molecular characterization has allowed highlight recurrent molecular abnormalities. In fact, glomus tumor involves frequent MIR143-NOTCH gene fusion whereas others pericytic tumor (myopericytoma and myofibroma) involve mutations of PDGFRB gene. Glomus tumor are usually developed in superficial localization. However visceral locations have been described. Cardiac location is exceptional with only one case reported in literature. Here, we report the case of cardiac glomus tumor (glomangiomyoma) developed in the left ventricle in a 34 year-old patient, diagnosed after chest pain. The length of tumor was 4cm in greatest dimension. Histologically, the tumor concerned both round glomus cells and smooth muscle cells with prominent branching thin-walled vessels. By immunohistochemistry, these two contingents exhibited diffuse expression of smooth muscle actin and heterogeneous expression of H-caldesmone whereas cytokeratins, melanocytic markers and chomogranine were negative. Next Generation molecular analysis using RNA sequencing highlighted the characteristic MIR143-NOTCH gene fusion witch supports the diagnosis of glomus tumor. In this observation, we recall histological and immunohistochemistry features of glomus tumor and we make a synthesis concerning the molecular data recently described in sporadic glomus tumor.
Assuntos
Tumor Glômico , MicroRNAs , Miofibroma , Adulto , Biomarcadores Tumorais , Tumor Glômico/diagnóstico , Tumor Glômico/cirurgia , Humanos , Imuno-Histoquímica , PericitosRESUMO
Salivary gland-like tumours are described in the breast but remain very rare and difficult to diagnose in this location. Only 37 cases of mucoepidermoid carcinoma have been described in the literature. We report the challenging diagnosis of a mucoepidermoid carcinoma sampled by core biopsy in a 51-year-old woman.
Assuntos
Neoplasias da Mama/patologia , Carcinoma Mucoepidermoide/patologia , Neoplasias de Mama Triplo Negativas/patologia , Biomarcadores Tumorais/análise , Neoplasias da Mama/química , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/diagnóstico por imagem , Carcinoma Mucoepidermoide/química , Carcinoma Mucoepidermoide/diagnóstico , Carcinoma Mucoepidermoide/diagnóstico por imagem , Hibridização Genômica Comparativa , Diagnóstico Diferencial , Feminino , Humanos , Mamografia , Mastectomia Segmentar , Pessoa de Meia-Idade , Especificidade de Órgãos , Neoplasias das Glândulas Salivares/patologia , Biópsia de Linfonodo Sentinela , Transativadores/genética , Neoplasias de Mama Triplo Negativas/química , Neoplasias de Mama Triplo Negativas/diagnósticoRESUMO
Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disease due to glucose-6-phosphatase deficiency. Chronic kidney disease is a frequent complication that may manifest itself by glomerular lesions and tubular dysfunction from the second decade of life. We report two young GSDIa patients with malignant renal tumor. The first patient was a 25-year-old man. He had chronic metabolic imbalance without kidney involvement. The tumor, a type 2 papillary renal carcinoma, was accidentally discovered during follow-up. The second patient was a 27-year-old woman with chronic metabolic imbalance and chronic kidney involvement. The tumor, a grade 2 papillary carcinoma, was accidentally discovered during follow-up. These two observations are, to date, the first to be reported. We suggest that annual monitoring of kidney imaging in GSDI patients should be systematic to detect renal cancer, from the second decade of life.
RESUMO
A 14-year-old female patient consulted due to 4 months of recurrent right pelvic pain during her menstrual period. Sonography revealed a 35 mm haemorrhagic right ovarian cyst, initially treated with hormone therapy and oral analgesics with no response. Surgery was indicated due to growth on sonography control and no response to medical treatment. Laparoscopy showed a 7 cm leiomyomatous-like mass arising from the right round ligament that was extracted en bloc without rupture with right salpingectomy and ovarian preservation. The histopathological examination confirmed the diagnosis of round ligament endometrioma with no atypia. The patient presented an uncomplicated postoperative course and was discharged home 48 hours after surgery. Hormonal contraceptives were initiated after the histopathological confirmation; the patient remains asymptomatic at 1-year follow-up.
Assuntos
Endometriose/patologia , Doenças Ovarianas/patologia , Ligamento Redondo do Útero/patologia , Adolescente , Endometriose/diagnóstico por imagem , Endometriose/cirurgia , Feminino , Humanos , Laparoscopia , Doenças Ovarianas/diagnóstico por imagem , Doenças Ovarianas/cirurgia , Dor Pélvica/etiologia , Ligamento Redondo do Útero/diagnóstico por imagem , Ligamento Redondo do Útero/cirurgia , UltrassonografiaRESUMO
Pathologists commonly face breast lesions that are difficult to diagnose. To reduce second opinion delay, erase geographical barrier and provide continuing education, we aimed to develop a telepathology-based regional network of pathologists. With the support of ONCOMIP network, we founded a peer-group named SENOPATH, composed of experienced breast pathologists practising in private laboratories, university hospitals or comprehensive cancer center in the region of Midi-Pyrénées in France. Submitted cases are digitalized at the University Hospital, stored in a shared space with a possible access via Internet prior to the SENOPATH sessions. The group meets monthly, via a synchronized webinar and multihead microscope session. A consensual diagnosis and final pathology report is issued for each case, and sent to the referring clinician via the patient medical file securely hosted by ONCOMIP. Between 2012 and 2014, 142 cases were reviewed, for either diagnostic 'routine' difficulty or rare histological type. The SENOPATH group, also regularly called by oncologists to solve difficult cases, has considerably improved the pathologist network in Southern France. Supported by the webinar tool, its educational impact is prominent, with a considerable progress in the region with regards to standardization of pathology processes, literature review and knowledge sharing.