Identification of a novel pathogenic variant in PALB2 and BARD1 genes by a multigene sequencing panel in triple negative breast cancer in Morocco.

Pathogenic variants (PVs) in BRCA genes have been mainly associated with an increasing risk of triple negative breast cancer (TNBC). The contribution of PVs in non-BRCA genes to TNBC seems likely since the processing of homologous recombination repair of double-strand DNA breaks involves several genes. Here, we investigate the susceptibility of genetic variation of the BRCA and non-BRCA genes in 30 early-onset Moroccan women with TNBC. Methods: Targeted capture-based next generation sequencing (NGS) method was performed with a multigene panel testing (MGPT) for variant screening. Panel sequencing was performed with genes involved in hereditary predisposition to cancer and candidate genes whose involvement remains unclear using Illumina MiSeq platform. Interpretation was conducted by following the American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) criteria. Results: PVs were identified in 20% (6/30) of patients with TNBC. Of these, 16.7% (5/30) carried a BRCA PV [10% (3/30) in BRCA1, 6.7% (2/30) in BRCA2] and 6.6% (2/30) carried a non-BRCA PV. The identified PVs in BRCA genes (BRCA1 c.798_799delTT, BRCA1 c.3279delC, BRCA2 c.1310_1313del, and BRCA2 c.1658T>G) have been reported before and were classified as pathogenic. The identified founder PVs BRCA1 c.798_799del and BRCA2 c.1310_1313delAAGA represented 10% (3/30). Our MGPT allowed identification of several sequence variations in most investigated genes, among which we found novel truncating variations in PALB2 and BARD1 genes. The PALB2 c.3290dup and BARD1 c.1333G>T variants are classified as pathogenic. We also identified 42 variants of unknown/uncertain significance (VUS) in 70% (21/30) of patients with TNBC, including 50% (21/42) missense variants. The highest VUS rate was observed in ATM (13%, 4/30). Additionally, 35.7% (15/42) variants initially well-known as benign, likely benign or conflicting interpretations of pathogenicity have been reclassified as VUS according to ACMG-AMP. Conclusions: PALB2 and BARD1 along with BRCA genetic screening could be helpful for a larger proportion of early-onset TNBC in Morocco.

Catamenial cyclic vomiting syndrome responding to oestrogen therapy: an adolescent case report.

Cyclic vomiting syndrome (CVS) is defined by episodes of vomiting lasting from a few hours to several days, alternating with periods of no symptoms. Various symptoms can be associated with vomiting such as nausea, migraine or abdominal pain. Common triggers of CVS include infection, psychological stress and menstruation. CVS's diagnosis requires exclusion of alternative diseases particularly neurological and gastrointestinal. CVS shares many common features with catamenial migraine including treatment. We herein report a case of CVS in a 16 years old girl characterized by stereotypical vomiting attacks occurring in every menstrual period. Recurrent vomiting episodes began 2 years before admission. Given the negativity of paraclinical exams and the absence of response to different therapeutic approaches as well as the similarity with catamenial migraine, we treated our patient with permenstrual percutaneous oestrogen for six months. The evolution was marked by the disappearance of symptoms within the first month and the absence of their recurrence after treatment cessation during a follow-up of 6 years.

[Posterior reversible encephalopathy syndrome: a case report]. / L'encéphalopathie postérieure réversible syndrome: à propos d'un cas.

Posterior reversible encephalopathy syndrome (PRES) is a radioclinical entity associating a reversible central nervous system involvement with a common brain imaging feature. There is a great variability in the clinical presentation of this syndrome and in the features of its sometimes atypical imaging appearance. PRES is an unusual neurological complication occurring during pregnancy or in the post-partum period, other than any pre-existing pathology occurred during pregnancy. Vasogenic edema due to the rupture of the blood-brain barrier seems to be its main cause. We here report the case of a primiparous patient with generalized tonic-clonic seizures associated with hypertensive peak occurred during the third trimester of pregnancy. Magnetic resonance imaging (MRI) of the brain showed posterior reversible encephalopathy. PRES should be suspected in patients with any sign of neurological disorder. It has a favorable outcome without sequelae under early and fast treatment.

[Ballantyne syndrome complicated by eclampsia: about a case and literature review]. / Syndrome de Ballantyne compliqué d'eclampsie: à propos d'un cas et revue de la littérature.

Ballantyne syndrome or preeclampsia (Mirror syndrome) is a rare clinical entity. Ethiopathogenesis is still poorly elucidated. Diagnosis must be suspected in patients with maternal edematous syndrome associated with fetal anasarca. Guarded fetal prognosis can be associate with strong maternal morbidity. This highlights the role of early diagnosis based on cause detection aimed to establish an antenatal treatment that could improve maternofoetal prognosis. We report and discuss in the light of a literature review a case of a probable Ballantyne syndrome secondary to fetal malformative syndrome complicated by eclampsia in the mother.

[Pseudo-tumoral peritoneal tuberculosis mimicking ovarian cancer: an important differential diagnosis to consider]. / Tuberculose péritonéale pseudo tumorale mimant un cancer ovarien: un diagnostic différentiel important à considérer.

Peritoneal tuberculosis is a curable infectious disease that can simulate advanced ovarian cancer, leading to extensive and unnecessary surgical procedures commonly performed on women of reproductive age. We report a new case of pseudo-tumoral peritoneal tuberculosis in a 43-year old female patient with suspected ovarian cancer associated with peritoneal carcinomatosis. The diagnosis of peritoneal tuberculosis was based on exploratory laparotomy with extemporaneous histological examination. The patient responded well to anti-tuberculosis treatment according to 2ERHZ/4RH protocol.

Villoglandular papillary adenocarcinoma: case report.

Villoglandular papillary adenocarcinoma (VPA) is a very rare subtype of adenocarcinoma of the uterine cervix, but a well-recognized variant of cervical adenocarcinoma with a favorable prognosis and generally occurring in women of child-bearing age. Herein, we report a case of VPA diagnosed and managed successfully with conservative measure. This management is particularly desirable in young women to preserve reproductive capability.

[Utility of hCG dosage in the management of gestational trophoblastic diseases]. / Intérêt du dosage de l'hormone chorionique gonadotrope dans les maladies trophoblastiques gestationnelles.

Measurement of hCG remains today central for diagnosis, treatment and follow-up of gestational trophoblastic diseases (GTD). In order to evaluate this contribution, we conducted a prospective cohort study in the Service of high-risk pregnancy of Rabat Maternity Les Orangers and the Laboratory of Rabat Military Teaching Hospital Mohammed V over a period of eighteen months. 35 patients were included. The hCG assay was determined by electrochemiluminescence. The general frequency of the GTD is of 0.33/100 childbirth. The average age of our patients was 30.5 years. 26 patients had hCG level abnormal and higher than 200 000 UI/mL when diagnosed with GTD; 34 patients had simple endo-uterine aspiration and 1 a chemotherapy. Among 34 patients, 25 (73.5%) had a favourable evolution characterized by normal hCG level within 3 to 13 weeks and complete remission. Serum hCG remained stable and negative in all these patients with a follow-up of 18 months. 9 patients had unfavourable evolution characterized by reaxent after negativation or stagnation of hCG levels. A rigorous monitoring of hCG levels during treatment and follow-up is essential to improve forecast of these diseases.