Uterine leiomyosarcoma is a rare disease with a poor prognosis. The rarity of this tumor needs a specialized management in tertiary reference centers in order to provide patients with optimal diagnostic, prognostic and therapeutic care. The pathological diagnosis relies on the presence of three characteristics in proliferating smooth muscle cells: necrosis, cytologic atypia and mitosis. Despite progress in the knowledge of the biology of these tumors, no oncogenic driver has been found. Prognosis depends mainly on the age of the patient, race, FIGO stage, mitotic index and hormonal receptor expression in the tumor. Surgery is one of the cornerstones of management and cytotoxic chemotherapy is the mainstay of treatment in metastatic disease with a potential role in the adjuvant setting. In locally advanced or metastatic disease, prognosis is poor with a median overall survival of about 12 to 14 months despite a 30% response rate to polychemotherapy regimens. Anti-angiogenics and hormonal therapy have a role to play in the setting of metastatic disease. It is mandatory to include such patients in clinical trials aiming to improve the therapeutic management of these patients. Multimodal therapy can improve the prognosis of selected patients too.

Currently, the increasing number of ancillary methods to be performed from tumoral tissues in a pathology laboratory determines the necessity to have an optimal strategy for tissue management. The size of tissue samples dedicated for a pathological examination becomes smaller and smaller, as the diagnosis can be made with non or less invasive methods. However, the samples should also allow to provide the prognosis as well as to realise biological molecular testing in order to found a genomic alteration. Thus, it is critical to think about how to share and to pool the different expertises and abilities in a pathology laboratory in order to optimize the achievement of the different ancillary methods. Thus, following the morphological study made in hematoxylin-eosin staining, it is necessary to preempt the number of immunohistochemical and in situ hybridization studies, which will be potentially done from the tissue samples. Moreover, since the genomic alteration detection in tumours is mainly performed from DNA extracted from tissues, it is necessary to take in account some numerous parameters, in particular the nature and the time of fixation, the percentage of tumour cells, the presence of necrotic area, the percentage of inflammatory cells and the sample size. The strategy for an optimal tissue management in an oncology-pathology laboratory is critical and takes part of the different steps allowing to get an accreditation according the ISO15189 norm.

We report the case of a 16-year-old girl with an anaplastic large cell lymphoma of lymphohistiocytic pattern revealed by a hemophagocytic syndrome. Histologically, the lymphomatous population was concealed by clusters of histiocytes. Immunohistochemical study allowed the diagnosis. The combination of these two entities is rarely described and may be a source of delay in diagnosis of a life-threatening condition.

Screening for breast cancer should concern all women at some point in their life. In cases of a family history of breast cancer, an oncogenetic consultation may be offered. The identification of a genetic predisposition enables specific management strategies for the woman to be drawn up.

Although gastrointestinal stromal tumors (GIST) are the most frequent sarcomas, they were usually not diagnosed before 1998. GIST derive from interstitial cells of Cajal, and may develop along the digestive tract, mainly from stomach and small intestine. GIST are characterized by the expression of KIT (CD117), and mutations KIT or PDGFRA are present in 85 % of cases. More than 150 different types of mutations have been reported. They are responsible for a constitutive activation of these tyrosine kinase receptors, in absence of their specific ligand. Detection of these mutations may help to confirm the diagnosis or to evaluate the prognosis. The mutations also have a predictive value. Indeed patients with metastatic GIST and duplication within exon 9 of KIT deserve to receive twice the dose of imatinib, while GIST with PDGFRA p.D842 V mutation are resistant to this drug. This review presents the main characteristics of GIST, and focus on the important insights of studies on GIST and their cell models in the field of oncology.

Glial and glioneuronal tumors in children and adult demonstrate distinctive clinical, neuroradiological and molecular features depending on the pathological subtype and within a same subgroup according to the age. In children, gliomas are mainly located in the infratentorial part of the brain. They are most often benign and circumscribed but infiltrative tumors with dismal prognosis are recorded within the pons (DIGP) or the thalamus. Glioblastomas are very rare in children. In contrast, gliomas in adult mainly occur in the cerebral hemispheres and the most frequent subtype is glioblastoma. Glioneuronal tumors mainly occurred in children and young adults. In addition, although pilocytic astrocytomas, pleomorphic xanthoastrocytomas and gangliogliomas are classified into different subgroups according to the WHO 2007 classification, these tumors demonstrate similar neuroradiological findings: they are cystic with contrast enhancement of a mural nodule. Major advances have been made these last five years in the discovery of some master genes that are involved in gliomagenesis and point out differences between children and adults. In adults, infiltrative gliomas can be classified into two major subgroups depending on the existence or not of IDH mutations. IDH-dependent gliomagenesis encompasses diffuse grade II and grade III (they can also show additional molecular alterations such as TP53 mutation or 1p19q codeletion) and secondary glioblastomas. IDH-independent gliomagenesis include triple negative grade II gliomas, gliomatosis cerebri (grade III) and de novo glioblastomas. Pilocytic astrocytomas, pleomorphic xanthoastrocytomas and gangliogliomas share in common BRAF alterations. However, KIAA1549-BRAF fusion characterizes pilocytic astrocytomas whereas V600E BRAF mutation is mainly recorded in pleomorphic xanthoastrocytomas and gangliogliomas.

Ovarian serous carcinoma is the most threatening type of gynaecological cancer because of late diagnosis at the advanced stage of peritoneal carcinomatosis stage. Identification of precancerous lesions could be essential in our understanding of ovarian carcinogenesis and might allow the development of effective screening tools. A serous carcinogenic sequence has been recently described in the Fallopian tube whereas an ovarian preinvasive lesion--ovarian epithelial dysplasia--was previously found. In light of recent and past molecular studies, we will review and discuss these two theories.

Medullary thyroid carcinoma (MTC) is rare in children. MTC is almost always inherited and occurs as part of a multiple endocrine neoplasia type 2A and B, due to germline mutation in the RET proto-oncogene. MTC in the pediatric population is most often diagnosed in the course of a familial genetic investigation. But when the child is the proband, a de novo mutation is most often founded. The main aim is to treat MTC before extrathyroidal extension occurs because when distant metastases are present, it is rarely curable. Treatment is based on total thyroidectomy with cervical lymph node dissection.

Management of NSCLC patients is more and more individualized especially on the base of bioguided treatments. In order to guarantee an access for all the patients too this type of strategy, the French NCI supports since 2006 a nationwide network of 28 regional genetics center. The financial support is based on public funds. The French NCI recommends today the assessment of seven biomarkers for all stage IV non squamous NSCLC patients. Due to financial and technical reasons, this recommendation must be followed. However, the molecular profiling of lung cancer patients would ideally be extended across all stages and all histological types of the disease in order to improve our knowledge in this field and provides the patient with an opportunity to access a bioguided treatment as frequently as possible.

Medullary thyroid cancer (MTC) is genetically determined in 30% to 35% of cases, notably through multiple mutations in the RET protooncogene located on chromosome 10, for which a genotype-phenotype relationship determines age of onset. There are three phenotypes: MEN 2 A and B, and isolated familial MTC. The type of mutation determines 3 levels of aggressiveness. Current guidelines recommend thyroidectomy during the first months of life for patients with very-high-risk (level 3) mutations and before 5 years of age for high-risk (level 2) mutations. There are no precise recommendations for lower-risk mutations, for which the surgical decision also depends on the calcitonin level and family history. We describe 18 patients who underwent prophylactic surgery. Regardless of the mutation, all patients with a normal preoperative calcitonin level were cured. However, surgery was performed later than recommended, for various reasons, including late genetic diagnosis and parents' opposition.

Preventive surgery is a mainstay of treatment for persons with genetic risk factors for cancer The indications of preventive surgery are based on a thorough risk assessment, clinical characteristics of the different hereditary cancer susceptibility syndromes, the types of mutation, and the possibility of watchful waiting for early cancer detection. Preventive surgery may either be recommended or represent one possible option. Bilateral prophylactic mastectomy can reduce the risk of breast cancer by up to 95% in BRCA1/BRCA2 mutation carriers. Bilateral prophylactic salpingo-oophorectomy is recommended for BRCA1/ BRCA2 carriers: women who undergo this preventive surgery have a reduced risk of ovarian cancer but also of breast cancer (around 50% for breast cancer). Patients with Lynch syndrome are at high risk of endometrial cancer, and prophylactic hysterectomy may be proposed to women for whom surgery is indicated for a uterine disorder (fibroma). Prophylactic surgery may be proposed to patients at risk of hereditary gastrointestinal malignancies, either on a case-by-case basis (Lynch syndrome) or more systematically for patients with the familial adenomatous polyposis syndrome or hereditary difuse gastric cancer Despite its efficacy, prophylactic surgery in a healthy individual, albeit at high risk of cancer, remains a difficult, multidisciplinary decision. Psychological support is needed to anticipate the possible physical psychological and social complications--and benefits.

Multiple eruptive dermatofibromas (DF) are rare and frequently associated with immune and neoplastic diseases. There have also been reports of rare familial cases. Herein we report a new such case.

The second half of the 20th century has been dominated by genetic models of tumors that provided conceptual tools explaining tumor genesis and its evolution. Other domains--epigenetics, cell metabolism--appeared that generated a more complex landscape of tumor physiopathology. Moreover, the discovery of tumor stem cells and intratumoral heterogeneity are likely to explain recurrence. A major difficulty is that every tumor behaves as an organ that evolves in function of its microenvironment. By integrating all the new data in more and more sophisticated models, the major goals may emerge from the characterisation of new markers for diagnosis and prognosis and from the selection of pertinent and efficient new therapeutic targets.

To describe the ultrasonographic (US) and fetal karyotyping data of fetuses with cystic hygroma diagnosed in the first trimester.