EGFR, BRCA1, BRCA2 and TP53 genetic profile in Moroccan triple negative breast cancer cases.

Triple negative breast cancer account for 10% to 20% of all newly diagnosed breast cancer cases, this subtype is well known for its lack of estrogen, progesterone and HER2 expression unlike the other subtypes of breast cancer that usually express at least one of the three. The absence of a specific biomarker for TNBC has made his treatment very challenging and his death rates very high compared to the other subtypes. Therefore, in morocco, many studies have been conducted in the hope of finding a specific biomarker for TNBC, but none of these studies has analyzed the EGFR protein expression and its gene molecular profile and correlated the EGFR analyses results with the genetic profile of other genes. In this study, we analyzed EGFR protein expression and the molecular profile of EGFR, BRCA1, BRCA2 and TP53 genes in 47 TNBC patients. We conducted a retrospective study of 47 Moroccan patients diagnosed with triple negative breast cancer between early 2013 and 2016. In this study, we have analyzed the EGFR. Protein expression, for all the 47 TNBC patients using pharmDx Kit. Then we used the Ion Personal Genome Machine (PGM) and Ion Ampliseq BRCA1/2 panel and hotspot Cancer panel to analyze the molecular profile of BRCA1/2 genes and the hotspot regions of TP53 and EGFR genes. The statistical analysis was performed using IBM SPSS Statistics ver. From the 47 analyzed patients using EGFR pharmDx Kit only 16 (34%) had EGFR overexpression while 31 (66%), patients were normal, moreover, From the 47 TNBC patients, only 39 underwent Mutational analysis of EGFR, BRCA1/2, and TP53 genes. One patient harbored a BRCA1 mutation c.798_799delTT (p.Ser267Lys). While for TP53 gene, 16 patients out of 39 (41%) presented hotspot mutations, seven of them harbored c.743G>A (p.Arg248Gln) mutation, six patients harbored exon 6 mutations from which five harbored the mutation c.659A>G (p.Tyr220Cys) and one the mutation c.817C>T (p.Arg273Cys), and finally, three patients harbored the mutation c.524G>A (p.Arg175His). Regarding BRCA2 and EGFR sequencing results, no mutations or other genetic alterations were detected in 39 patients that were successfully sequenced. Statistical analysis revealed the absence of any correlations.

Prospective evaluation of a specific technique of sexual function preservation in external beam radiotherapy for prostate cancer.

OBJECTIVE: Sexual preservation is an important issue in the treatment of localized prostate cancer. A technique of irradiation was developed to better preserve this function and has been evaluated. METHODS: Eleven patients, with no erectile dysfunction (ED), were treated with daily IMRT-IGRT (total dose: 76-78 Gy). The pudendal arteries, penile bulb and cavernous body were delineated on the planning CT scan. The doses to these structures (with a 5 mm margin) were optimized to be as low as possible. The erectile function was documented using IIEF-5 scores at baseline, 6 months, 1 and 2 years. No ED was defined by an IIEF5 ≥ 20/25, a mild ED by an IIEF5 score of 17-19 and an important ED by a score <17. RESULTS: The mean age was 68.4 years. At the median follow-up of 36 months, there was no biochemical relapse. Before RT, the mean IIEF5 score in all 11 patients was 23.4 (range, 20-25). At 6, 12, 18 and 24 months after RT, the mean IIEF scores were 21.2 (14-25), 21.3 (14-25), 21.8 (16-25) and 21.8 (16-25), respectively. At 2 years, 8 patients (72.7%) had no ED and 2 patients (18.2%) experienced a mild ED. The only patient with an important ED had a medical treatment and recovered a satisfactory IIEF score from 16 to 24. CONCLUSION: The results of this technique of optimisation for sexual preservation are encouraging. Despite a mean age close to 70 years at the time of treatment, 90.9% of the patients had no to mild ED at 2 years. This rate increases at 100% with medical treatment. Advances in knowledge: Dose optimization on sexual organs is possible and could decrease the ED rates.

[Brain metastasis from rectal adenocarcinoma: about a case and review of the literature]. / Métastase crânienne d'un adénocarcinome rectal: à propos d'un cas avec revue de la littérature.

The most common primary sites for bone metastases in men are lung, prostate, kidney, thyroid or bladder. Colorectal origin is rare. Few studies have described this type of metastases; the axial skeleton or the pelvis are the most common metastasis locations. Craniofacial location is exceptional. We here report the case of a 38 years old man treated for metastatic rectal cancer metastasized to temporal bone. He initially had undergone surgical procedure for low anterior resection, tumor was classified as pT3N0M0; 24 months after the patient had left exophthalmos revealing a temporal tumoral process. Evolution and context favoured metastasis. In conclusion, this study reporting an exceptional case of craniofacial bone metastasis from multi-metastatic colorectal cancer will enrich the scarce data reported in the literature related to bone metastases from primary colorectal cancer.

[A rare cases of rhabdomyosarcoma of the uterine cervix: about a case and review of the literature]. / Cas rare d'un rhabdomyosarcome du col: à propos d'un cas avec revue de la littérature.

Rhabdomyosarcoma of the uterine cervix is a rare histological type of cervical cancer, occurring commonly in young girls or sexually active women. Given the aggressiveness of the disease, therapeutic strategy is based on the combination of the three treatment modalities (chemotherapy - radiation therapy-surgery). We report the case of a 20-year old patient with rhabdomyosarcoma of the uterine cervix. The patient had a personal history of recurrent genital infections. Patient's first symptom was profuse metrorrhagias associated with the presence of a mass like "a bunch of grapes". Biopsy was in favor of a rhabdomyosarcoma of the uterine cervix. E Extension assessment showed locally advanced mass without metastasis. The patient underwent 5 administrations of VAC chemotherapy, exhibiting tumor regression of 90%. She underwent hysterectomy without adnexal conservation. Then she received postoperative pelvic radiation therapy. At 13-months' follow-up the patient was still in complete remission. Rhabdomyosarcoma of the uterine cervix is a rare tumor that develops most often in young girls. It mainly shows locoregional extension. Treatment is based on surgery including conservative treatment as well as radical treatment associated with perioperative chemotherapy. The role of radiation therapy remains poorly defined.