当前位置: 首页 >> 检索结果
2341. [Malignant lymphomas--the end of a long dispute?].2342. [For what reasons should we avoid suggesting a prophylactic mastectomy for a woman at risk?].2343. [Under what conditions should we propose a prophylactic mastectomy for a woman at risk?].2344. [HNPCC syndrome, microsatellite instability and NF1 gene alteration].
Hereditary predisposition to non polyposis colorectal cancer is caused by a heterozygous germline mutation in a DNA mismatch repair gene (essentially hMLH1 or hMSH2). Cancer progression in predisposed individuals results from the occurrence of a somatic alteration of the normal copy of the gene. Recently, we identified children with a constitutional deficiency of mismatch repair activity, due to a homozygous germline mutation of the hMLH1 gene. These children exhibited clinical features of de novo neurofibromatosis type 1 and early onset of hematopoietic cancers. This observation demonstrates that mismatch repair deficiency is compatible with human development. However, the subsequent genetic instability leads to a high cancer susceptibility. In this context, the NF1 gene appears to be a preferential mutational target. Implications of this observation are discussed.
2345. [Genetic analysis of familial prostatic cancer: localization of a gene predisposing to prostatic cancer (PCaP) on chromosome 1q 42.2-43].
作者: A Valeri.;E Drelon.;T Paiss.;W Vogel.;R de Petriconi.;R Hautmann.;G Fournier.;P Mangin.;P Berthon.;O Cussenot.
来源: Prog Urol. 1999年9卷4期680-8页
To conduct genetic linkage analysis in order to localize predisposition genes for hereditary prostate cancer (CaP), as various epidemiological studies have demonstrated a family aggregation in 15 to 25% of cases, and the development of hereditary forms in 5 to 10% of cases of CaP.
2346. [Epidemiology of familial prostatic cancer: 4-year assessment of French studies].
作者: A Valeri.;E Drelon.;R Azzouzi.;A Delannoy.;P Teillac.;G Fournier.;P Mangin.;P Berthon.;O Cussenot.
来源: Prog Urol. 1999年9卷4期672-9页
(1) To determine the frequency of familial (at least 2 cases) and hereditary forms of prostate cancer (CaP), (2) to define the results according to the patient's age at diagnosis, as various epidemiological studies have demonstrated a possible familial aggregation of CaP in about 15 to 25% of cases. Carter's familial segregation study (P.N.A.S. 1992, 89, 3367-71) showed that a genetic predisposition, with autosomal dominant transmission, could be responsible for 9% of all cases of prostate cancer.
2347. [Renal medullary carcinoma, a new clinico-pathological entity. Immunohistochemical, ultrastructural, flow cytometric and cytogenetic study of a case].
作者: D Chatelain.;G de Pinieux.;J Slama.;J Couturier.;M Le Charpentier.;P Vielh.;D Thirouard.;A Vieillefond.
来源: Ann Pathol. 1999年19卷4期320-4页
The renal medullary carcinoma is a rare tumor. We report a case in a black patient with sickle cell trait. The tumor was located in the lower pole of the left kidney. It had a tubular and microcystic architecture. It was composed of large eosinophilic cells with vesicular nuclei containing prominent nucleoli, in a desmoplastic and inflammatory stroma. By immunohistochemistry, the tumoral cells were positive for cytokeratin and Ulex europaeus lectin. Electron microscopy revealed small intracytoplasmic lumina with microvilli. The flow cytometric study showed DNA-multiploidy. The cytogenetic study revealed tetraploidy without structural abnormality. The renal medullary carcinoma is often reported in young black patients with sickle cell trait. Its microscopic, immunohistochemical and ultrastructural features favor its identification as a particular variety of Bellini duct carcinoma. Its link with sickle cell trait has to be defined.
2348. [Renal cancer: bone metastases, immunotherapy and interleukin-6].
In renal cell carcinoma, bone metastases remain a major medical challenge because they are refractory to the antiproliferative effects of immunotherapy. We critically review the biological and clinical data which implicate interleukin-6 in the tumor growth, the pathogenesis of the bone metastases and the response to immunotherapy.
2349. [Mutation in the MSH2 gene in Muir-Torre syndrome].
作者: V Godard.;F Coulet.;J F Bernaudin.;M Housset.;F Soubrier.
来源: Ann Dermatol Venereol. 1999年126卷8-9期600-3页
The Muir-Torre syndrome is an autosomal dominant hereditary condition predisposing to cancer. It is characterized by skin tumors associated with adenocarcinoma of the colon or other neoplasias observed in the context of hereditary non-polyposis colorectal cancer (HNPCC). The Muir-Torre syndrome is also characterized by the frequent presence of multiple colonic polyps and the relatively moderate aggressivity of the tumors.
2350. [Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis].
作者: M X Doré.;B Dieumegard.;S Grandjouan.;M F Avril.;C Martinet.;M Ducreux.;P Lasser.;B Bressac-de Paillerets.
来源: Ann Dermatol Venereol. 1999年126卷8-9期582-6页
The Muir-Torre Syndrome is a rare genodermatosis, defined by the occurrence of cutaneous tumors (such as sebaceous adenomas, epitheliomas, or carcinomas, and/or keratoacanthomas), and internal malignancies. Recently, molecular analysis in hereditary non polyposis colorectal cancer demonstrated a common genetic basis, linking these two disorders, with the observation of germline mutations in the hMSH2 gene (one of the DNA mismatch repair system genes) in both syndromes. Such molecular demonstration of a single nosological entity should be clinically used to improve the indications of molecular testings in oncogenetics, still restricted to highly stringent criteria for hereditary non polyposis colorectal cancer.
2351. [Muir-Torre syndrome].2352. [Intracellular signalization and inflammation: variations for an intracellular symphony. 1st movement].
Inflammatory response involves complex signalling pathways at cellular and molecular levels. During the cellular activation, intracellular substrates are subsequently phosphorylated for inducing transcription and synthesis of various inflammatory and/or anti-inflammatory mediators. This review focuses on the description of the main mechanisms involved in the activation signalling pathways that occur during inflammatory processes.
2353. [Adult's anaplastic CD30+ large cell lymphomas].
作者: L Cany.;P Soubeyran.;V Boulanger.;I Soubeyran.;P Richaud.;H Eghbali.;B Hoerni.
来源: Bull Cancer. 1999年86卷9期739-44页
Anaplastic large-cell lymphomas were recognized by Stein in 1985. Less than fifteen years were necessary to confirm this entity, as well as her phenotype and to characterize the t(2;5) (p23;q35) chromosomal abnormality. This rare subgroup of non-Hodgkin's lymphomas (15% of peripheral T cell lymphomas and 8% of all diffuse aggressive lymphomas) is individualized in the Real classification. This disease, which had a bimodal age distribution, is clinically characterized by a diffuse nodal involvement and the frequency of extranodal involvement, especially skin and lungs. Primitive cutaneous anaplastic large cell lymphomas belong to the cutaneous CD30+ lymphoproliferative diseases spectrum. Among peripheral T cell and diffuse aggressive lymphomas, they have the better prognosis. We present in this paper a review of the recent advances in the knowledge, treatment and prognosis of this peculiar entity.
2354. [Beta-catenin mutations in a common skin cancer: pilomatricoma].
The normal hair development requires WNT signalling pathways. A constitutive activation of beta-catenin, one of the components of this cascade, induces an abnormal proliferation of hair matrix cells. This activation is observed in a human skin tumours called pilomatricoma. Mutations of the beta-catenin gene are detected in 75% of the tumours analysed.
2355. [Has malt lymphoma found its apoptosis suppressor gene: API2-MLT?].2356. [Abnormalities in the ATM gene effectively contribute to the occurrence of thymic lymphomas in patients with ataxia telangiectasia].2357. [And if BRCA1 regulates the cell response to estrogens].2358. [It is only a beginning, let the battle continue].2359. [Brooke-Spiegler syndrome].
作者: H Garat.;F Loche.;B Gorguet.;H Rumeau.;L Lamant.;J Bazex.
来源: Ann Dermatol Venereol. 1999年126卷6-7期513-7页
Brooke-Spiegler syndrome is an association of multiple trichoepitheliomas and cylindromas, sometimes accompanied by other adnexal tumors.
2360. [Genetic predisposition to breast cancer: a review in April 1998].
The recent identification of the BRCA1 and BRCA2 genes allows to understand in an increasing number of cases the origin of a breast/ovarian cancer family history and thereby to propose genetic testing to at risk women. However to know to be carrier of a predisposing germline mutation is at the present to deal with the difficult choice of different supportive cares: close follow up or prophylactic surgery. Numerous studies still have to be done to determine the better management of women at risk. The other challenges are the understanding of the origin of each breast or ovarian cancer case; to identify the factors which modify the tumor risks in predisposed women; and finally to win the social acceptance of genetic testing avoiding any discrimination.
|