Renal carcinomas are histologically and prognostically heterogeneous. Genomic as well as chromosomal studies of these tumors have permitted a better comprehension of molecular mechanisms implicated in their development and progression. The most frequent histological subtypes are characterized by recurrent cytogenetic abnormalities, such as the loss of the chromosome 3 short arm involving a VHL gene copy in clear cell renal carcinomas, or trisomies 7 and 17 in papillary renal cell carcinomas. New histological subtypes like renal carcinomas associated with Xp11.2 translocations have also been individualized. Besides diagnosis, some chromosomal aberrations like the loss of a short arm of chromosome 9 in different renal carcinoma histological subtypes have a worse prognostic impact. The identification of chromosomal shuffles contributes in backing histological diagnosis and in precising the individual prognosis of patients. This review describes chromosomal abnormalities associated to renal carcinomas and their impact for an accurate classification of these tumors and the evaluation of their prognosis.

Melanoma is a rare cancer but it is the cancer with the biggest increase of incidence, especially in caucasian populations. UV exposure and genetic predisposition are the two main risk factors. The diagnosis is often clinically suspected with the "ABCDE" rule. However, there are some diagnostic traps. Histological exam of the whole lesion will confirm diagnosis and guide the management. In case of localised melanoma, Breslow index is the best prognostic index. In case of metastatic melanoma, prognostic is dark. The AJCC classification stages patients in 4 groups according to their global survival.

Herein we report the first case of toxic epidermal necrolysis (TEN) occurring with use of vemurafenib.

TENpath is a network for the expert pathological diagnosis of malignant neuroendocrine tumors of the adult, both familial and sporadic, created by the French National Institute of Cancer in 2010. After 3years of activity, a first evaluation can be made. The perimeter of the network includes all neuroendocrine tumors (except small cell carcinomas of the lung), medullary carcinomas of the thyroid and extra-adrenal paragangliomas. The objectives of the network are not only the pathological review of all newly diagnosed cases of neuroendocrine tumors, but also the epidemiological surveillance, the training of pathologists, the production of recommendations and the initiation of research projects. The organisation of the network includes a database in which all referred cases are declared and a virtual expert system making it possible collegial expertises in line. Twenty-two expert centers are currently participating to TENpath. A total of 1350 cases have been referred in 2011 and 1518 in 2012. Major discrepancies amounted up to 5.9% in 2011 and to 2.9% in 2012. They mainly involved problems of differential diagnosis and wrong evaluations of the differentiation status of the tumor. The lessons to draw from the first years of TENpath are: (a) the long-standing underestimation of the actual number of patients with neuroendocrine tumors in France, (b) a better delineation, based on objective data, of the cases raising actual problems of diagnosis, (c) the existence of cases raising problems of classification even to experts and justifying a particular effort of research. These informations will be important to discuss the future evolution of TENpath.

All adrenal masses with atypical characteristics at conventional imaging must be explored as potential adrenocortical cancer. CT scan with delayed contrast media wash-out and/or abdominal MRI including chemical shift and/or wash-out analysis and 18F-FDG PET help to characterize the adrenal mass. Open adrenalectomy is the first step in the treatment of resectables adrenocortical cancer, as potentially curative. It must be complete (R0), without tumoral dissemination. The management of the adrenocortical cancer requires a multidisciplinary approach, including the endocrinologist, oncologist, surgeons, radiologist, nuclear medicine, pathologist, and geneticians in order to guarantee to the patient the best care. At the national level, the French network COMETE (supported by the Institut National du Cancer) and the international level, the European Network for the Study of Adrenal tumors -ENS@T- (supported by ESF and FP7) contribute to improve the clinical management and the understanding of the pathogenesis of the adrenocortical cancers. Recently, a new insight on molecular markers has been done. These approaches will be soon used "in routine".

Up to 30% of phaeochromocytomas and paragangliomas occur in the context of inherited tumor syndromes. Familial history and clinical presentation have to be strongly detailed to guide genetic testing. The identification of a genetic predisposition in a patient with phaeochromocytoma or paraganglioma has a positive impact in terms of medical care and follow-up for the proband and allows genetic testing in apparently asymptomatic family members. Two clusters of genes are described depending on their implication in the pathogenesis of inherited tumors. An algorithm for the genetic diagnosis of phaeochromocytomas and paragangliomas is proposed by The French network of oncogenetic laboratories. These recommendations will probably change with the identification of new predisposition genes and the development of new sequencing technologies.Genetic testing is prescribed by a specialist, as part of a cancer genetics specialist consultation in endocrine tumors. The psychological support is essential throughout the family survey.

To investigate the frequency of family history of breast cancer in male patients with breast cancer and the association with other cancers.

The management of locally advanced and metastatic non-small cell lung cancer has been revolutionized thanks to recent progress in pathology and molecular biology. The first molecular subgroup is defined by activating mutations of the epidermal growth factor receptor (EGFR), and a dramatic response to specific tyrosine kinase inhibitors. Since then, multiple genetic alterations (KRAS, HER2, BRAF, PIK3CA, ALK, ROS, RET…) have been identified as potential target of novel therapies, and molecular profiling has become common practice. This review focus on the molecular alterations associated with non-small cell lung cancer, including molecular profiling and response to targeted therapies.

The data describing the urologic extracolonic cancers associated with Lynch syndrome (hereditary non-polyposis colorectal cancer [HNPCC]) are variable. The aim of our study was to establish the frequency of mutations in mismatch repair (MMR) genes in patients with upper urinary tract transitional cell carcinoma (UUT-TCC) and to evaluate the clinical benefits of a systematic screening.

Hereditary ovarian cancers account for 10% of all cases. Two major syndromes with dominant autosomal transmission are identified. The most common one is breast-ovarian cancer syndrome due to BRCA1 and BRCA2 genes mutations, and the Lynch syndrome with mutated MMR genes is the other. Alterations in homologous recombination specifically observed in ovarian cancer with BRCA defects associated to Parp inhibition create a synthetic lethality of special interest. Numerous studies are in progress to explore this promising new approach. Furthermore, it seems that carcinogenesis of these two syndromes are different, suggesting alternative therapeutic options in the near future in order to improve prognosis of ovarian carcinomas.

This review will describe the current knowledge in the pathophysiology, diagnosis, prognosis and treatment of pulmonary MALT (Mucosa Associated Lymphoid Tissue) lymphoma. Pulmonary MALT lymphomas are low-grade B cell lymphoma and are the most frequent lymphomas arising from the lung. Tumour cells arise from mucosa associated lymphoid tissue. Unlike other sites, no pathogen has been associated with pulmonary location of MALT lymphoma. However addictive translocations involving the MALT1 gene are frequently evidenced Patients are frequently asymptomatic and present with a chronic alveolar opacity. Diagnosis requires histology that may be retrieved by minimally invasive procedures during bronchial endoscopy or by CT scan guided percutaneous biopsies. Prognosis is good and treatment may vary with abstention, surgery, radiotherapy, immunotherapy or chemotherapy.

Recent years have seen the emergence of new molecules for the treatment of patients with metastatic cutaneous melanoma, with significant benefits in terms of survival and the opening of new therapeutic perspectives. In addition, many techniques are currently being developed for locoregional treatment of metastatic sites. Management of metastatic melanoma is thus fast-changing and is marked by innovative therapeutic approaches. However, the availability of these new treatments has prompted debate among healthcare professionals concerning their use and their place in therapeutic strategy.

Since the discovery of the structure of DNA in 1953 by Watson and Crick, our understanding of the genetic causes and the regulations involved in tumor development have hugely increased. The important amount of research developed since then has led to the development of gene therapy, which specifically targets and treats cancer cells by interacting with, and correcting their genetic material. This study is a review of the most accomplished research using gene therapy aimed at treating malignant ophthalmologic diseases, and focuses more specifically on uveal melanoma and retinoblastoma. Such approaches are remarkable regarding the efficiency and the cellular targeting specificity. However, gene therapy-based treatments are so recent that many long-term interrogations subsist. The majority of the reviewed studies are conducted in vitro or in murine models, thereby requiring several years before the resulting therapies become part of the daily ophthalmologists' arsenal. However, the recent spectacular developments based on advanced scientific knowledge justify an up-to-date review that would benefit the ophthalmologist community.

We report the case of a 20 years old woman with unusual acute myeloid leukemia t(8;21). Cytological, phenotypic and cytogenetic investigations showed a divergence from those of the literature as well as data for the last 12 LA to t(8;21) supported in the service.

During two centuries, advances in medicine and medical research have helped to understand the pathophysiology of chronic myelogenous leukemia (CML). This hematologic malignancy is a unique model of oncogenesis where a single molecular hit, causing cell proliferation and survival, was identified. The chromosomal abnormality first highlighted by P. Nowell and D. Hungerford in 1960, and characterized as the reciprocal translocation t(9;22)(q34;q11), the Philadelphia chromosome, discovered in leukemic cells, by J. Rowley in 1973. At the end of the 20th century, the contribution of molecular biology techniques was crucial by the discovery of the BCR-ABL1 hybrid oncogene derived from the t(9;22), responsible for the translation of an aberrant protein tyrosine kinase. This BCR-ABL1 kinase deregulates signaling pathways that control normal cell cycle and survival in primitive hematopoietic cells and is thus responsible for malignant cell accumulation observed in CML. It was then only necessary to develop a targeted treatment adapted to this molecular hit. Recently, tyrosine kinase inhibitors, by their specific inhibitory activity of BCR-ABL, have revolutionized the treatment of CML, allowing rates of haematological, cytogenetic and molecular responses never seen to date, and has significantly improved the overall survival and the quality of life of patients.