Clear Cell Adenocarcinoma Arising from Abdominal Wall Endometriosis

Endometriosis is a frequent benign disorder. Malignancy arising in extraovarian endometriosis is a rare event. A 49-year-old woman is presented with a large painful abdominal wall mass. She underwent a myomectomy, 20 years before, for uterus leiomyoma. Computed tomography suggested that this was a desmoid tumor and she underwent surgery. Histological examination showed a clear cell adenocarcinoma associated with endometriosis foci. Pelvic ultrasound, computed tomography, and endometrial curettage did not show any malignancy or endometriosis in the uterus and ovaries. Adjuvant chemotherapy was recommended, but the patient was lost to follow up. Six months later, she returned with a recurrence of the abdominal wall mass. She was given chemotherapy and then she was reoperated

Primary lymphoepithelial carcinoma of the parotid gland in a North African woman

Lymphoepithelial carcinoma of the salivary glands is a rare neoplasm that is characterized by a non-neoplastic lymphocytic infiltration associated with an epithelial proliferation. It involves mainly the parotid gland. Racial and geographical factors contribute to the pathogenesis of this tumor. We report a case of a 70-year old woman from a non-endemic area who presented with several months history of swelling in the parotid region. Magnetic resonance imaging showed a parotid mass suggestive of a pleomorphic adenoma. The diagnosis of lymphoepithelial carcinoma of the parotid gland was performed on the surgical specimen. A primitive nasopharyngeal carcinoma was ruled out by random biopsies of the nasopharynx mucosa. The Epstein-Barr virus (EBV) was absent in neoplastic cells. We insist that, even in non-endemic areas and when clinical and radiological characteristics are not suggestive of malignancy, intra-operative frozen section analysis should be used in order to ensure the appropriate treatment

Diagnostic et prise en charge des cystites à éosinophiles

La cystite à éosinophiles est une pathologie inflammatoire de la paroi vésicale. Elle est rare, il n'existe pas des recommandations établies concernant sa prise en charge. Il s'agit d'une étude rétrospective ayant concerné dix observations de cystites à éosinophiles diagnostiquées et prises en charge dans notre service entre 2006 et 2017. L'âge moyen des patients était de 46 ans. On a noté une prédominance masculine. Un terrain atopique était noté dans 3 cas. Le mode de présentation le plus fréquent était des signes urinaires irritatifs dans 9 cas, une hématurie macroscopique dans 8 cas et des algies pelviennes dans 6 cas. Une hyper-éosinophilie sanguine était présente dans 4 cas. La cystoscopie avait montré des pétéchies dans 5 cas, un aspect pseudo-tumoral dans 4 cas et était normal dans un cas. Pour les formes pseudo-tumorales une résection endoscopique a été pratiquée. Quatre patients ont été traités par les anti-inflammatoires non stéroïdien, avec amélioration des symptômes. Six malades ont été surveillés. Après un recul moyen de 50 mois, aucune récidive n'a été rapportée. La cystite à éosinophiles est une pathologie rare. La présentation clinique est non spécifique. La prise en charge repose sur des moyens médicaux non invasifs dans les formes peu symptomatiques

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive genetic disorder caused by biallelic germline mutations in one of the mismatch repair genes. Carriers are at exceptionally high risk for developing, typically in early life, hematological and brain malignancies, as well as cancers observed in Lynch syndrome. We report a homozygous MLH1 missense variant (c.1918C>A p.(Pro640Thr)) in a Tunisian patient with CMMRD syndrome and a family history of early-age colorectal cancer. The proband presented initially with colonic oligopolyposis and adenosquamous carcinoma of the caecum. He later developed several malignancies, including undifferentiated carcinoma of the parotid, grade 4 IDH-mutant astrocytoma, and ampulla of Vater adenocarcinoma. The patient was older than typical for this disease and had a remarkably prolonged survival despite developing four distinct aggressive malignancies. The current report highlights the challenges in assessing the pathogenicity of the identified variant and the remarkable phenotypic diversity in CMMRD

EGFR mutation status in Tunisian non-small-cell lung cancer patients evaluated by mutation-specific immunohistochemistry

Abstract Background Screening mutations in epidermal growth factor receptor (EGFR) to analyze non-small-cell lung cancer (NSCLC) profile is the criterion to choose the best therapeutic strategy. New Oncology guidelines recommend EGFR mutation analysis before prescribing tyrosine kinase inhibitors (TKIs) treatment. Majority of lung cancer patients are diagnosed at advanced stages and generally only small biopsies materials are available for diagnostic and molecular characterization. The aim of this first work is to screen EGFR mutation status in Tunisian NSCLC by mutation-specific immunohistochemistry (IHC) and molecular biology, to estimate the relevance of proposing TKIs as a new therapeutic line. Methods E746-A750 deletion and L858R mutations were screened in 50 unselected NSCLC formalin-fixed paraffin-embedded (FFPE) tissue samples. Mutation expression by IHC was evaluated by intensity and percentage of staining and correlated to patients’ data. DNA was extracted and EGFR mutations were analyzed by Sanger sequencing. Positive and negative controls were included for EGFR mutations in order to support the results. Results Among our patients (48 men and 2 women) all adenocarcinoma (confirmed by histology and IHC with TTF1/Napsin A), 94% were smokers exceeding the tobacco risk threshold (at least 25 pack-years) and the women were none. 44% had EGFR mutation by IHC: 26% had simple mutation and 18% had concurrent mutation. All mutated cases were smokers except a woman who was none. Concurrent mutations patients exceeded 40 pack-years. 91.4% of IHC results were validated by molecular analysis (100% of negative and 85% of positive cases) showing either T > G (exon 21) or 2235–2249 del (exon 19). Conclusions These preliminary results confirm the usefulness of IHC to detect EGFR mutations but the frequency of concurrent mutations doesn’t appear in favor of EGFR TKIs treatment. In fact, literature reports a significantly worse response compared to those with single mutation when treated by TKIs