MRI indications in breast imaging in breast imaging are now well codified. In diagnostic and screening, MRI in recommended in patients with likely metastatic lymph nodes and in metastasis of unknown cause, and in women with high risk family. In characterisation MRI is recommend in non-calcified subtle findings, non suitable for biopsy. In the staging of a diagnosed breast cancer, MRI has a great impact both for the diagnosis and for the treatment, event if group of women for whom MRI is recommended is still discussed. In follow-up of patients with an history of breast cancer, MRI permits to differentiate recurrence from scarr and to monitor the response to a neo-adjuvant chemotherapy. Dense breast don't constitute a MRI indication by itself, but strengthen recognized MRI indications. Fatty breast easily readable on mammogram don't justify not to perform MRI in the screening of women with high risk family. Conservely in the staging of a breast cancer in an woman or in the monitoring of a neo-adjuvant chemotherapy fatty breast may make US sufficient.

Whether estimated or measured, mammographic or breast density, which may be subject to physiological and therapeutic variations, is widely viewed in the literature as an important factor of increased risk for breast cancer. A high breast density, the causes of which are being refined, would increase the relative risk of breast cancer four to six fold, even though some authors direct critics at methodological flaws supporting these results. Three-dimensional imaging will confirm or refute the available results. Meanwhile, radiologists and clinicians must remain vigilant in patients with high breast density.

Hereditary syndromes of predisposition to skin cancer are rare conditions with several different modes of transmission (autosomal recessive, dominant or X-linked). These conditions predispose principally to skin tumors, but sometimes, although more rarely, to some visceral tumors. The clinical and histologic characteristics of the tumors observed in these conditions are generally identical to those of sporadic forms. They are distinguished, however, by their multiple number and their earlier onset.

Phacomatoses, or neurocutaneous disorders, are a group of congenital and hereditary diseases characterized by developmental lesions of the neuroectoderm, leading to pathologies affecting the skin and the central nervous system. There is a wide range of pathologies affecting individuals at different moments of life. The genetics is variable: while neurofibromatosis 1 and 2, tuberous sclerosis and von Hippel-Lindau disease are all inherited as autosomal dominant traits, Sturge-Weber syndrome is sporadic. Other neurocutaneous disorders can be inherited as autosomal recessive traits (i.e., ataxia-telangiectasia), X-linked (i.e., incontinentia pigmenti) or explained by mosaicism (i.e., hypomelanosis of Ito, McCune-Albright syndrome). In this review, we discuss the major types of neurocutaneous disorders most frequently encountered by the neurosurgeon and followed beyond childhood. They include neurofibromatosis types 1 and 2, tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. In each case, a review of the literature, including diagnosis, genetics and treatment will be presented. The lifespan of the disease with the implications for neurosurgeons will be emphasized. A review of cases, including both pediatric and adult patients, seen in neurosurgical practices in the Lille, France and Lausanne, Switzerland hospitals between 1961 and 2007 is presented to illustrate the pathologies seen in different age-groups. Because the genes mutated in most phacomatoses are involved in development and are activated following a timed schedule, the phenotype of these diseases evolves with age. The implication of the neurosurgeon varies depending on the patient's age and pathology. While neurosurgeons tend to see pediatric patients affected with neurofibromatosis type 1, tuberous sclerosis and Sturge-Weber syndrome, there will be a majority of adult patients with von Hippel-Lindau disease or neurofibromatosis type 2.

Early stages of chronic lymphocytic leukemia (CLL), which are the most frequent at diagnosis, have an extremely variable individual prognosis, as some patients remain stable for years whereas others develop aggressive forms of the disease less or more rapidly. Individual prognosis evaluation of early stages of CLL is then a challenge for physicians; also clinico-hematological stages are still the evaluation basis, numerous biological markers are helpful in providing independent information on patient prognosis. It is useful to distinguish the classical prognosis factors, described in the 1980s, and the recent markers described from the end of the 1990s, which are widely validated for certain, whereas for others further investigations are needed to confirm their prognostic impact. We propose to detail in this review these new prognostic factors of CLL, especially the different serum markers, cytogenetical abnormalities of pathologic lymphocytes, mutational status of the immunoglobulin genes (IgVH) and CD38 and ZAP-70 expression.

Hereditary colorectal cancer conditions are associated with a very-high life-time risk of colorectal cancer and require an intensive endoscopic surveillance programme. All colorectal lesions identified during follow-up should be endoscopically removed. Colectomy should be considered when these lesions are not amenable to endoscopic resection because of their morphological characteristics and/or their multiplicity. In fact, colectomy or coloproctectomy is indicated in virtually all patients with classical form of familial adenomatous polyposis as they develop hundreds of adenomatous polyps during their second decade of live. In any case, it is recommended that surgical decisions are discussed in multidisciplinary teams and that surgery is performed in highly specialized centres.

Primary aortic tumours are very rare. To our knowledge, only 120 cases had been reported in the world literature. Their clinical presentation is not specific. They are usually diagnosed at aortic surgery or by post-mortem examination. Intimal sarcoma is the most frequent histological type. We report a case of intimal sarcoma of the thoracic aorta diagnosed on autopsy of a 48-year-old man victim of sudden death. The main problem raised by intimal sarcoma lies in its poor differentiation or lack of differentiation. Thus, the pathologist must perform a phenotypic analysis as complete as possible of this tumor.

Wiedemann-Beckwith syndrome (WBS) is a syndrome of excessive growing with a high predisposition to developing embryologic tumours within the first years of life. This risk is evaluated between 7.5 and 10%; it varies with the mechanisms of mutations involved. These take place in two distinct domains of 11p15, which are under parental printing. Emerging techniques of cytogenetic and molecular biology now have shown correlations between genotypes and phenotypes, and can identify the 30% of WBS who are especially at risk of developing tumours. A specific follow-up, integrating the specificity of developing tumours of each 11p15 mutations involved, is now proposed to patients with WBS.

Clinical and fundamental research based on the pheochromocytoma cohort of the COMETE network has drastically improved our knowledge of pheochromocytoma (PH). Previously, it was widely thought that only 10 % of PH patients had familial forms and that the malignant phenotype of PH could not be diagnosed before the first metastasis had already occurred. Genetic studies of the COMETE DNA collection contributed to showing that 25% to 30% of patients in fact have hereditary PH, due to a germline mutation of the SDHB, SDHD, VHL, RET or NF1 genes. The high-quality post-surgical clinical data collected by the COMETE network also show that SDHB germline mutations are a major risk factor for malignancy and poor outcome. Fundamental research work on the COMETE tumour collection shows that SDH genes are new tumour suppressor genes and that succinate dehydrogenase inactivation induces abnormal stimulation of the hypoxia-angiogenesis pathway. Since 2001, work by the COMETE network has led to new recommendations for genetic counselling and genetic testing in pheochromocytoma, and also for patient management. Finally, it has identified new molecular mechanisms involved in PH-related tumorigenesis.

Adrenal cortical carcinoma is a rare malignancy, with only one or two new cases being diagnosed per million subjects per year. The prognosis is dismal, with less than 30% survival at five years. The best chances of cure are obtained when a "localized" tumor can undergo "complete" surgical removal. Most often, however, the diagnosis is made when the tumor is already invasive and non secretory Clinical, hormonal and imaging features, including 18-fluorodeoxyglucose PET scan, can provide strong evidence of malignancy and indicate open surgical excision in expert hands. Recent advances in the genetics of adrenal cortical carcinomas have identified molecular factors that can be used as diagnostic and prognostic markers. These markers are more valuable than classical staging and histology (Weiss score). A better understanding of the pathophysiology of these tumors is required in order to develop targeted therapies.

Ovarian epithelial dysplasia has been described in the ovarian surface epithelium by histologic, morphometric and nuclear profile studies. It could represent a potential precursor of ovarian malignancy in patients with genetic risk of ovarian cancer, although its natural history and progression to carcinoma are unpredictable. Diagnosis and identification of ovarian dysplasia would certainly be useful to understand the early steps of ovarian carcinogenesis. However, dysplasia in relation with ovulation induction seems to have a different pattern. We report dysplasia definitions and the current clinical management.

The breast cancer prevention is based on mastectomy hormonal deprivation (surgical or chemical) and the use of drugs acting on cell signalization pathways, which provoke the cancerization (these drugs are not officially authorized in France).

There are gene polymorphisms which can impact on the pharmacodynamics of anticancer agents used in the treatment of colorectal cancer. It is the case for thymidylate synthase, for methylenetetrahydrofolate reductase and for UGT 1A1. Polymorphisms of UGT 1A1 are considered as potential indicators of a risk of toxicity treatment by irinotecan. Clinical trials are in progress so as to validate the clinical usefulness of these germinal genetic analyses so as to select treatments/doses adapted to individual profiles.

As a consequence of breast imaging development and increased interventional radiology, benign epithelial breast diseases (BEBD) represent a growing percentage of breast pathology diagnoses. BEBD include numerous entities such as cysts, fibrosis, adenosis, duct ectasia, which require neither surgery nor follow-up. Some BEBD have to be individualized (radial scars, papillomas, complex sclerosing adenosis, lobular intraepithelial neoplasia, flat epithelial atypia, atypical hyperplasia), being preinvasive lesions or markers of increased breast cancer risk, or being associated with suspect radiological aspect. BEBD should be managed in a pluridisciplinar way and correctly diagnosed by percutaneous biopsies or surgical specimens. The goals of surgery vary according to lesions. It always allows a complete surgical specimen analysis and therefore a search for atypical or cancerous cells. Surgery can also have a preventive role by reducing the risk of potential malignant transformation. Finally, it enables in some cases the excision of a radiologically suspect mass. So the aim of this review is to give a clinical and morphological description of most common BEBD, underlying their cancer risk, specific diagnosis, therapeutic, follow-up and psychological repercussions.

The Hereditary Non-Polyposis Colorectal Cancer syndrome (HNPCC) has initially been described as a predisposition to colorectal cancers (CRC). Subsequently, other cancers, such as endometrial cancers (EC), have been added. The objective of this review was to update data on endometrial cancers of HNPCC syndrome. Endometrial cancers of the HNPCC syndrome are characterized by a younger age at diagnosis (46-48 year old), and a higher cumulative risk along life (30% at 70 years). Complex atypical hyperplasia seems to occur before the cancer, but the transition between precursors and cancer seems to be short. Histology of endometrial cancers of the HNPCC syndrome appears quite similar to that of sporadic cases, except for non-endometrioid lesions which seem more frequent and could occur in younger women. Screening of endometrial cancer in predisposed women should associate annual clinical examination, transvaginal sonography and endometrial sampling. Unfortunately, available data on screening by sonography show that this test seems poorly accurate, with no asymptomatic cancer or hyperplasia recognized and interval cancers between screenings. Endometrial biopsy appears as the most interesting method, since 11 asymptomatic cancers and 14 hyperplasia have been diagnosed in 175 mutation carriers. Diagnostic hysteroscopy seems also interesting, but requires further evaluation. Prophylactic hysterectomy confers a complete protection against endometrial cancer. However, perioperative morbidity (especially in women with history of colorectal surgery) and long-term effects of ovarian suppression should also be considered. Screening of endometrial cancer remains the main objective of the management of those patients. Endometrial biopsy should have a larger place.

To compare screening breast MRI with conventional screening techniques in high-risk patients with genetic mutation.

The authors report a case of pyoderma gangrenosum (PG) following a breast lumpectomy for a relapse of a breast cancer. The treatment has associated a systemic corticosteroid therapy and local wound care with vacuum assisted closure Vacuum-Assisted Closure and skin graft.