Prognostic and predictive values of oncogenic BRAF, NRAS, c-KIT and MITF in cutaneous and mucous melanoma.

BACKGROUND: Mutations of BRAF, NRAS and c-KIT oncogenes are preferentially described in certain histological subtypes of melanoma and linked to specific histopathological features. BRAF-, MEK- and KIT-inhibitors led to improvement in overall survival of patients harbouring mutated metastatic melanoma. OBJECTIVES: To assess the prevalence and types of BRAF, NRAS, c-KIT and MITF mutations in cutaneous and mucous melanoma and to correlate mutation status with clinicopathological features and outcome. METHODS: Clinicopathological features and mutation status of 108 samples and of 98 consecutive patients were, respectively, assessed in one retrospective and one prospective study. Clinicopathological features were correlated with mutation status and the predictive value of these mutations was studied. RESULTS: This work identified significant correlations between BRAF mutations and melanoma occurring on non-chronic sun-damaged skin and superficial spreading melanoma (P < 0.05) on one hand, and between NRAS mutations and nodular melanoma (P < 0.05) on the other hand. Younger age (P < 0.05), microscopic (P < 0.05) and macroscopic (P < 0.05) lymphatic involvement at diagnosis of primary melanoma were significantly linked to BRAF mutations. A mutated status was a positive predictive factor of a response to BRAF inhibitors (OR = 3.44). Mutated melanoma showed a significantly (P = 0.038) higher objective response rate to cytotoxic chemotherapy (26.3%) than wild-type tumours (6.7%). CONCLUSION: Clinical and pathological characteristics of the primary melanoma differed between wild-type and BRAF- or NRAS-mutated tumours. Patients with BRAF-mutated tumours were younger at diagnosis of primary melanoma. Patients carrying mutations showed better responses better to specific kinase inhibitors and interestingly also to systemic cytotoxic chemotherapy.

[Microcystic sclerosing adnexal carcinoma: 2 case reports. Diagnostic and therapeutic difficulties]. / Carcinome annexiel sclérosant microkystique. A propos de 2 cas. Problèmes diagnostiques et thérapeutiques.

Microcystic adnexal carcinoma is a recently described malignant neoplasm of adnexal structure. It remains frequently misdiagnosed. These tumors are characterized by their slow progression and by local aggressivity with local recurrences. The best treatment appears to be surgical excision with microscopically controlled margin. We report two cases of microcystic adnexal carcinoma recently observed at Institute Gustave Roussy.

[Uterine leiomyosarcoma. Nine case reports, review of the literature]. / Le léiomyosarcome utérin. A propos de 9 observations, revue de la littérature.

OBJECT OF THE STUDY: To evaluate management and outcome of the treatment of uterine leiomyosarcoma. PATIENTS AND METHODS: Retrospective study of a series of 9 patients treated for uterine leiomyosarcoma in this hospital from 1982 to 1994. RESULTS: The condition is rarely suspected preoperatively, diagnosis is usually made on histological examination of the operative specimen. The outcome is related to the mitotic activity of the tumour and to the infiltration of nearly structures. Surgery is the only effective treatment, chemotherapy is ineffective, adjuvant radiotherapy improves local control of the tumour but has no incidence on survival. CONCLUSION: In the absence of an effective adjuvant treatment uterine leiomyosarcoma bears a poor prognosis with the only exception of small non infiltrating tumours with a low mitotic activity.

[Müllerian mixed tumors. Experience of the Rennes Regional University Hospital]. / Les tumeurs mixtes mullériennes. Expérience du C.H.R.U. de Rennes.

Seventeen cases of mixed Muller tumours (tumours of the uterus with malignant epithelial and mesenchymal components) are presented. These recently described tumours are rare and occur in menopaused women. Bloody discharge is the usual clinical manifestation, together with an increase of the volume of the uterus. Pathology examination of the surgical specimen is required for diagnosis using immunolabeling to distinguish between homologous tumours (the sarcomatous component occurs in the primary mesenchyma) and heterologous tumours (the mesenchymatous component results from a metastasis). Prognosis, usually poor, depends on the stage of the tumour. Overall survival at 5 years is about 30%. Survival in early stage I and state II tumours is no greater than 50% at 5 years. Treatment is based on radiosurgical techniques in less advanced tumours and requires radiochemotherapy in more advanced stage tumours. Recurrence is usually seen within 2 years, involving the pelvis alone in 10% of the cases and metastasis in most of the others. Because of their rapid development and poor prognosis, these tumours should be identified separately as a separate entity within a larger group of mixed mesodermic tumours.

[Cardiac tuberculoma; value of echocardiography and therapeutic management apropos of a case]. / Tuberculome cardiaque; intérêt de l'échographie cardiaque et discussion thérpeutique à propos d'un cas.

The authors report the case of a patient with a large mass in the right ventricle which was a tuberculoma without pulmonary disease. The severity of the right ventricular obstruction required surgical intervention with quadri-antitubercular therapy. Myocardial tuberculomas are very rare and usually reported as post-mortem findings. Only four cases resulting in cure have been previously reported. Current means of investigation such as echocardiography and endomyocardial biopsy allow rapid diagnosis of these tumours and should lead to better medical management with possible surgical intervention and a higher therapeutic success rate.

[Extrapulmonary mycobacterial infection with multiple cold abscesses]. / Infection extrapulmonaire à mycobactéries avec abcès froids multiples.

We report one case of extrapulmonary mycobacterial infection, in the absence of HIV infection, singular by a clinical presentation simulating a tumor, associating a bulky intrahepatic mass, an abscess of the psoas, multiple intracerebral lesions, and an obstructive intracardiac mass of the right ventricle, which required a surgical resection. We comment the type of the mycobacterium involved and the hepatic and cardiac localisations, since macronodular hepatic abscesses are rare, and cardiac abcesses, exceptional.