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Background: Elucidation of specific and recurrent/founder pathogenic variants (PVs) in BRCA (BRCA1 and BRCA2) genes can make the genetic testing, for breast cancer (BC) and/or ovarian cancer (OC), affordable for developing nations., Methods: To establish the knowledge about BRCA PVs and to determine the prevalence of the specific and recurrent/founder variants in BRCA genes in BC and/or OC women in North Africa, a systematic review was conducted in Morocco, Algeria, and Tunisia., Results: Search of the databases yielded 25 relevant references, including eleven studies in Morocco, five in Algeria, and nine in Tunisia. Overall, 15 studies investigated both BRCA1 and BRCA2 genes, four studies examined the entire coding region of the BRCA1 gene, and six studies in which the analysis was limited to a few BRCA1 and/or BRCA2 exons. Overall, 76 PVs (44 in BRCA1 and32 in BRCA2) were identified in 196 BC and/or OC patients (129 BRCA1 and 67 BRCA2 carriers). Eighteen of the 76 (23.7%) PVs [10/44 (22.7%) in BRCA1 and 8/32 (25%) in BRCA2] were reported for the first time and considered to be novel PVs. Among those identified as unlikely to be of North African origin, the BRCA1 c.68_69del and BRCA1 c.5266dupC Jewish founder alleles and PVs that have been reported as recurrent/founder variants in European populations (ex: BRCA1 c.181T>G, BRCA1 c1016dupA). The most well characterized PVs are four in BRCA1 gene [c.211dupA (14.7%), c.798_799detTT (14%), c.5266dup (8.5%), c.5309G>T (7.8%), c.3279delC (4.7%)] and one in BRCA2 [c.1310_1313detAAGA (38.9%)]. The c.211dupA and c.5309G>T PVs were identified as specific founder variants in Tunisia and Morocco, accounting for 35.2% (19/54) and 20.4% (10/49) of total established BRCA1 PVs, respectively. c.798_799delTT variant was identified in 14% (18/129) of all BRCA1 North African carriers, suggesting a founder allele. A broad spectrum of recurrent variants including BRCA1 3279delC, BRCA1 c.5266dup and BRCA2 c.1310_1313detAAGA was detected in 42 patients. BRCA1 founder variants explain around 36.4% (47/129) of BC and outnumber BRCA2 founder variants by a ratio of ≈3:1., Conclusions: Testing BC and/or OC patients for the panel of specific and recurrent/founder PVs might be the most cost-effective molecular diagnosis strategy., (© 2022. The Author(s).)

Background: Urothelial bladder carcinoma (UBC) is one of the most prevalent cancers in men worldwide. Human epidermal growth factor receptor 2 (HER2) expression has been detected in a wide range of urothelial carcinoma. Despite many reports in the literature, the prognostic significance of this overexpression remains unclear. The aim of this study was to assess the expression of HER2 in urothelial bladder carcinomas and its association with clinical and pathological parameters., Methods: 103 cases of UBC were diagnosed in our department between January 2014 and December 2015. The tumor specimens obtained by transurethral resection or cystectomy were evaluated by immunohistochemistry using HER2 antibody., Results: HER2 protein overexpression was present in 11.7% of cases and associated with tumor grade ( p  = 0.003) and pathological stage ( p  = 0.015). In multivariate analysis, HER2 overexpression was associated only with tumor grade ( P  = 0.04)., Conclusion: HER2 protein overexpression is noted in patients with high grade cancer. This expression may select patients for anti HER2 targeted therapy. Future larger and prospective studies will verify the frequency of HER2 alteration and the role of HER2 in the aggressive behavior.

Background: Survival is increasing after early breast cancer revealing frequent relapses and possibility of developing secondary malignancies. The concomitant occurrence of these two events is exceptionally disastrous and lethal. We report a case of a Moroccan woman who was successfully managed for synchronous recurrent breast carcinoma and chronic myelogenous leukemia., Case Presentation: A 42-year-old Moroccan woman was diagnosed with localized breast carcinoma in 2008. She received six cycles of an adjuvant chemotherapy regimen, radiation therapy and hormonal therapy by tamoxifen. After completion of 5 years of tamoxifen our patient reported asthenia; a physical examination found hepatomegaly, massive splenomegaly measuring 21 cm and supraclavicular lymphadenopathy. The staging showed lung and liver metastases. Morphology and immunohistochemical profile of this metastasis identified an adenocarcinoma of mammary origin. In parallel, the diagnosis of chronic myeloid leukemia was suspected because of the presence of a leukocytosis at 355 × 10 9 /L, with circulating blasts of 4%. Chronic myeloid leukemia was confirmed by a bone marrow biopsy with the presence of Ph chromosome on cytogenetical analysis. Daily imatinib was ordered concurrently with chemotherapy-type docetaxel. The metastases were stable after nine courses of chemotherapy. Due to breast cancer progression 4 months later, bevacizumab and capecitabine were introduced. A major molecular response was achieved after 12 and 18 months. She has now completed 2 years of follow-up, still on a major molecular response, and is undergoing imatinib and capecitabine treatment., Conclusions: Leukocytosis in breast cancer patients can reveal chronic myeloid leukemia. It may warrant a workup to find the underlying etiology, which could include a secondary hematological malignancy.

Background: Pulmonary sarcomas are uncommon accounting for 0.5 % of all primary lung cancers. Undifferentiated sarcomas account for up to 20 % of soft tissue sarcomas. A lung tumor revealed to be an undifferentiated sarcoma with epithelioid features has never been reported in the literature., Case Presentation: A 61-year-old white Moroccan man presented with 2 months' history of hemoptysis and dyspnea. Chest computed tomography showed a cystic mass involving the lower field of his right lung evoking first a hydatid cyst. Abdominal computed tomography revealed bilateral adrenal nodules. Surgical resection of the lung mass was performed. On pathological examination, the tumor was cystic containing necrotic material. A histological diagnosis of undifferentiated sarcoma with epithelioid features was made. A positron emission tomography scan showed involvement of his pleura, left colon, adrenal glands, left thigh muscle, and leptomeninges., Conclusions: Undifferentiated sarcoma with epithelioid features is a rare malignant mesenchymal tumor. Clinical and radiological features are not specific. A differential diagnosis includes sarcomatoid carcinoma, malignant mesothelioma, melanoma, and other epithelioid sarcomas.

Background: Insulinomas are rare pancreatic endocrine tumors. Most are benign and solitary. However, the nonspecific symptoms and small size of these tumors led to difficulties of diagnosis and localization., Case Presentation: We present two Arab patients with pancreatic long-standing insulinoma. Both patients presented episodic hypoglycemic symptoms respectively during 10 and 2 years. Biochemical and morphological workup detected localized pancreatic insulinoma. Open procedure surgery was done for the two patients and insulinomas were successfully removed by enucleation., Conclusion: Insulinoma remains a diagnostic challenge to practitioners. Diagnosis of suspected cases is easily confirmed by standard endocrine tests, especially the supervised fasting test. Accurate preoperative localization is essential for more effective and safest surgery.

Chondroid syringoma (CS) of the orbit is an extremely rare benign neoplasm. To the best of our knowledege, this is the second case reported in the english litérature.We report a case of a 41-year-old woman with orbital CS. This tumor developed slowly over 8 years causing indolor, no axil, exophtalmos of the left eye. Computed tomography demonstrated an isodense intraorbital tumor with homogeneous enhancement without bony erosion. On Magnetic resonance imaging the tumor was isointense on T1-weighted imaging, slightly hyper intense on T2-weighted imaging, and enhanced after Gadolinium administration. The patient was operated via left lateral orbitotomy. At surgery the mass was well circumscribed, extraconal, very firm and did not invade or adhere to other structures. The tumor was removed in toto. The diagnosis was confirmed by histopathological examination, the lesion was nodular, and there was differentiation toward the adnexal ductal epithelium with chondromyxoid and adipocytic differentiation in the stroma. No recurrence was seen with one year follow-up.CS should be included in the differential diagnosis of intra-orbital tumors. Complete resection remains the best therapeutic option to prevent recurrence. Close followup is recommended because malignant transformation, although rare, is possible.

We report here a 44-year-old Moroccan man with resectable gastric adenocarcinoma with overexpression of human epidermal growth factor receptor 2 (HER2) by immunohistochemistry who was treated with trastuzumab in combination with chemotherapy in perioperative setting. He received 3 cycles of neoadjuvant chemotherapy consisting of trastuzumab, oxaliplatin, and capecitabine. Afterwards, he received total gastrectomy with extended D2 lymphadenectomy without spleno-pancreatectomy. A pathologic complete response was obtained with a combination of trastuzumab and oxaliplatin and capecitabine. He received 3 more cycles of trastuzumab containing regimen postoperatively.We conclude that resectable gastric carcinoma with overexpression of the c-erbB-2 protein should ideally be managed with perioperative combination of trastuzumab with chemotherapy. Further research to evaluate trastuzumab in combination with chemotherapy regimens in the perioperative and adjuvant setting is urgently needed.

Background: In the ovary, metastatic malignant melanoma may be confused with primary malignant melanoma and presents a diagnosis challenge. Most cases are associated with disseminated diseases and poor prognosis. We present this case report of a metastatic ovarian malignant melanoma simulating primary ovarian cancer., Case Report: A 45-year-old premenopausal woman was incidentally found to have an abdominal mass, 3 years after removal of a cutaneous melanoma lesion. Ultrasound and CT scan revealed left two solid masses, which were found to be an ovarian tumor at laparotomy. Left oophorectomy was performed. Histopathology and immunohistochemistry showed melanoma metastasis to the ovary. Nine months later, the patient developed epilepsy and confusion. Magnetic Resonance Imaging showed unique Wright frontal lobe lesion. She underwent stereotactic radio surgery and dacarbazine monotherapy. For months later, the patient is died from disseminate disease progression., Conclusion: Ovarian metastasis is an unusual presentation of cutaneous melanoma and the prognosis was dismal. As illustrated by this case report, a differential diagnosis of a metastatic malignant melanoma must be considered.