PRENATAL DIAGNOSIS OF del(9)(p24): A SEX REVERSE CASE

BACKGROUND: We report on a fetus with sex reversal and del(9)(p24) consequent to a malsegregation of a maternal balanced complex translocation involving chromosomes 7, 9 and 11. METHODS: Fluorescence in situ hybridization (FISH) was performed in order to verify the presence of the SRY gene and the absence of DMRT1 and DMRT2 genes located in 9p24.3 region and frequently associated with sex reversal. RESULTS AND CONCLUSIONS: The prenatal karyotype revealed an unbalanced male fetus. The postmortem examination showed a malformed fetus with female external genitalia. Lack of DMRT1-2 genes established by FISH

p53 protein in aggressive and non-aggressive basal cell carcinoma.

Basal cell carcinoma (BCC) is the most frequent cutaneous neoplasm, with a generally favorable clinical behavior. Sometimes, indeed, it recurs after therapy and/or metastasizes. As point mutations in the coding sequence of the p53 tumor suppressor gene have been implicated in the progression of many human tumors, we studied the expression of p53 protein on this neoplasia. We tested immunohistochemically the positivity for p53 protein (NCL-p53-CM1, YLEM) on 19 cases of morphologically "non aggressive" BCC (BCC1) and on 19 "aggressive" BCC (BCC2), all with one or more relapses and 3 with distant metastases also. Results were related to clinico-pathological and follow-up data. All but one BCC2 were found positive for p53 protein. Conversely, only 2 cases of BCC1 exhibited low immunoreactivity for p53 protein, with high statistical differences between the two groups. No correlation was found between the immunoreactivity, age of patients, and site of the lesions. The availability of immunohistochemistry and the relatively easy interpretation of the results make screening for p53 protein a possibly useful tool in the prognostic evaluation of BCC

P53 expression, DNA ploidy and S-phase cell fraction in operable locally advanced non-small-cell lung cancer

The identification of biomarkers to complement pathological stage for a more accurate prognosis and help clinicians decide on treatment is still an open problem for patients with lung cancer. Expression of P53 protein was detected by an immunohistochemical approach using the monoclonal antibody PAb1801 on paraffin-embedded sections of tumours obtained surgically from 102 stage II-IIIa patients with non-small-cell lung cancer (52 squamous cell carcinomas, 50 adenocarcinomas). [ 3H]Thymidine labelling index, an indicator of the S-phase cell fraction, was evaluated on histological sections of [ 3H]thymidine-labelled tumour samples. DNA ploidy was defined by flow cytometric analysis on frozen tumour tissue. The biomarkers, histology and pathological stage were analysed in relation to relapse-free survival in univariate and multivariate analyses. Stage and interaction between [ 3H]thymidine labelling index and histology provided significant prognostic information for the overall series. [ 3H]thymidine labelling index was an independent prognostic indicator of 3 year relapse-free survival in patients with adenocarcinoma. The results indicate the importance of cell proliferation to complement prognostic information provided by pathological stage in patients with stage II-IIIa adenocarcinomas

Questionable necessity to remove the submandibular gland in neck dissection

Item does not contain fulltextSaliva is of major importance in taste, speech, swallowing, and protection against dental caries. Neck dissection surgery and/or radiotherapy may impair the function of the submandibular glands. Over the years, there has been a trend toward more conservative approaches to neck dissection. Metastasis to the submandibular gland itself is extremely rare and if removal of the lymph nodes of sublevel IB is imperative, it seems feasible to preserve the submandibular gland, unless it is involved by direct tumor extension of the primary tumor or the adjacent metastatic lymph nodes. Clinical studies to validate this concept are needed

Métastase d’un cancer du sein dans la glande submandibulaire : un nouveau cas

Introduction. Les métastases intéressent rarement les glandes salivaires principales. Elles touchent principalement la glande parotide ; les métastases dans la glande submandibulaire sont beaucoup moins fréquentes. Observation. Nous rapportons un cas de métastase dans la glande submandibulaire chez une patiente ayant été traité pour un carcinome du sein droit et qui a développé une métastase 7 ans plus tard. Discussion. Nous présenterons également les quelques cas de métastases de la glande submandibulaire décrits dans la littérature dont la tumeur primaire n’était pas dans la région de la tête et du cou