Correlation between KRAS and NRAS mutational status and clinicopathological features in 414 cases of metastatic colorectal cancer in Morocco: the largest North African case series.

BACKGROUND: Advances in molecular biology have improved understanding of the molecular features of carcinogenesis and progression of colorectal cancer. It is clear that the efficacy of anti-EGFR depends upon the RAS mutational status, since any mutation in RAS is associated with resistance to anti-EGFR therapy. The aim of this study is to report the largest North African description of KRAS and NRAS status in metastatic colorectal cancer and to describe the association of these mutations with clinicopathological characteristics. METHODS: This is a prospective study of all consecutive unselected metastatic colorectal cancer samples, collected from the Laboratory of Pathology at the National Institute of Oncology of Rabat, Morocco, from January 1st 2020 to December 31st 2021. The molecular analysis was performed on the Idylla™ platform (fully automated real-time polymerase chain reaction-based assay) for KRAS and NRAS mutations in exons 2, 3 and 4. These mutations were correlated to gender, primary tumor site, histological type and degree of differentiation of tumor using adequate statistical methods. RESULTS: Four hundred fourteen colorectal tumors were screened for KRAS and NRAS mutations. These mutations occurred in 51.7% of tumors for KRAS (mainly in exon 12) and in 3% of tumors for NRAS. There was a significant correlation between NRAS mutation and age of colorectal patients in this study. The low rate of invalid RAS tests (1.7% for KRAS and 3.1% for NRAS) was certainly obtained due to the strict respect of pre-analytical factors such as cold ischemia time and formalin fixation. CONCLUSION: We report the largest North African analysis of NRAS and KRAS status in colorectal metastatic patients. This study showed the ability in low middle income countries to perform a high rate of valid tests and the unusual trend towards older patients for NRAS mutations.

Delivering colorectal cancer screening integrated with primary health care services in Morocco: Lessons learned from a demonstration project.

BACKGROUND: Colorectal cancer (CRC) incidence and mortality rates are increasing rapidly in many low-income and middle-income countries. A demonstration project was implemented in Morocco in collaboration with the Ministry of Health to assess the feasibility, acceptability, and challenges of implementing CRC screening through routine primary care facilities. METHODS: The objective of the project was to screen 10,000 men and women aged 50 to 75 years through 10 primary health centers (PHCs) in 2 provinces. All eligible men and women attending the selected PHCs were offered the fecal immunochemical test (FIT). Stool specimens brought to the PHCs were tested immediately by trained nurses. FIT-positive individuals were referred to the National Oncology Institute for colonoscopy. RESULTS: In total, 9763 eligible men and women were screened by FIT between June 2017 and May 2019; most (73.3%) were women. The test was positive in 460 participants (4.7%). Among the individuals who had positive FIT results, 62.6% underwent colonoscopy. The main reasons for noncompliance to colonoscopy were competing life priorities (15.4%), other health problems (13%), and fear of getting a cancer diagnosis (12.3%). As the number of referrals to colonoscopy increased, the waiting time for the procedure increased, resulting in a drop in compliance. The detection rates of advanced adenomas and CRC were 4.0 in 1000 and 0.5 in 1000 individuals screened, respectively. CONCLUSIONS: An effective strategy to reach the target populations (especially men), a pragmatic assessment of the health system's capacity to deal with large numbers of referrals, and a formal cost-effectiveness analysis are essential before making any decision to introduce CRC screening in Morocco.

Malignant Deciduoid Mesothelioma: case presentation of an exceptional variant and review of the literature.

BACKGROUND: Malignant Deciduoid Mesothelioma (MDM) is an extremely rare variant of epithelioid mesothelioma. It was first described in young females, in the peritoneum, and its relation with asbestos was not well defined. Later reports, have shown that this variant may also occur in the pleura, the pericardium and the tunica vaginalis of elderly people, who had been exposed to asbestos. CASE PRESENTATION: We report a case of malignant deciduoid mesothelioma that occurred in the peritoneal cavity, and the omentum of a 35-year-old woman. The patient had never been exposed to asbestos. CONCLUSIONS: Through this observation, we describe clinical, histopathological, and immunohistochemical findings of deciduoid mesothelioma, and review the literature reports.

Bone metastasis from malignant phyllodes breast tumor: report of two cases.

BACKGROUND: Phyllodes tumors are rare fibroepithelial tumors accounting for less than 1 % of all breast neoplasms. They are malignant in 20 % of cases. Only a few cases of malignant phyllodes tumors metastatic to bone have been reported. CASE PRESENTATION: Case 1: A 40 year-old white woman presented with three-week history of pain and functional impairment of the left lower limb. Her clinical past was remarkable for previous left mastectomy and radiotherapy for malignant phyllodes tumor performed one year ago. Computed tomography revealed a moth-eaten appearance of the left femoral head. The patient underwent computed guided femoral head biopsy. Pathological findings were consistent with metastatic malignant phyllodes tumor. The patient received ifosfamide and adriamycin chemotherapy. She is doing well without any evidence of progression on her imaging follow- up after 8 months. Case 2: A 48 year-old white woman, with history of bilateral mastectomy and radiotherapy for malignant phyllodes tumor performed one and two year ago, presented with four-week left lower quadrant abdominal pain. Computed tomography and magnetic resonance imaging revealed a solid aggressive osteolytic mass of the left iliac bone with extensive soft tissue invasion. Biopsy of the tumor was performed and showed a sarcomatous proliferation consistent with metastatic malignant phyllodes tumor. The patient received the same chemotherapy regimen as in the first case but without any response on her imaging follow up after 6 months. CONCLUSION: Malignant phyllodes tumor is a rare and aggressive fibroepithelial neoplasm. An accurate diagnosis of metastases should be based on clinicopathological correlation allowing exclusion of differential diagnoses. The goal of successful managing this tumor is early detection and complete resection prior to dissemination.

A rare case of anterior sternal metastasis in ovarian cancer: A case report.

A subcutaneous mass in the anterior region of the thorax, (presternal region). Subcutaneous metastases in ovarian cancer are rare, occurring in 0.9% to 5.8% of cases. They are usually a late manifestation that arises several years after the initial diagnosis and often serve as a poor prognostic indicator. Their presence suggests a reported median survival ranging from 3 to 18 months. subcutaneous metastases can be categorized into umbilical metastases, commonly referred to as Sister Joseph's nodules (SJN) the most prevalent type, and non-SJN cutaneous metastases. We present the unusual case of a 57-year-old woman who underwent surgical intervention and received adjuvant chemotherapy for serous ovarian adenocarcinoma. She presented for consultation 5 years later with a painful presternal mass, and the histopathological examination of the mass revealed a metastasis of the primary ovarian tumor.

Epidermoid cyst discovered concomitant with torsion of the spermatic cord: A case report.

Testicular epidermoid cysts, accounting for 1%-2% of all testicular masses, present a diagnostic challenge often identified post-orchiectomy. Conservative surgery is recommended, emphasizing the need for accurate preoperative diagnosis. A 28-year-old patient with acute left scrotal pain, initially suggestive of testicular torsion, underwent intraoperative exploration revealing extra-vaginal torsion with an incidentally discovered 2-cm intra-testicular mass. Due to suspected malignancy, a total orchiectomy was performed. Pathological analysis confirmed an epidermoid cyst with normal postoperative tumor markers. The patient had a good postoperative outcome and underwent testicular prosthesis placement 3 months after the surgery. Epidermoid cysts, often identified incidentally during urgent scenarios, underscore the importance of accurate preoperative diagnosis. Conservative surgery remains the preferred approach, emphasizing the consideration of benign factors to prevent unnecessary orchiectomies.

Primary hepatic leiomyosarcoma with adrenal and hepatic metastasis: Case report and literature review.

Primary hepatic leiomyosarcoma (PHL) is a rare malignant tumor, which originates from smooth muscles. The imaging features are nonspecific and the diagnosis is often delayed until the tumor reaches a large size, which leads often to a dismal prognosis. We report a case of a 46-year-old male patient who was complaining about abdominal pain for 2 months. The imaging revealed the presence of a large mass in the liver with adrenal and liver metastasis. Diagnosis of PHL was confirmed by histopathological and immunohistochemical examinations. In this case report, we review the epidemiological, clinical, and paraclinical aspects of the disease, as well as the treatment modalities.

Unusual location of myxopapillary ependymoma in the sacrum: Case report and review of the literature.

Myxopapillary ependymoma, a rare variant of ependymoma, commonly occurs in the conus medullaris or filum terminale. The rarity of these tumors can make their diagnosis and treatment challenging. This case report presents an atypical occurrence of myxopapillary ependymoma within the sacrum in a 68-year-old patient presented with a 3-month history of persistent left-sided low back pain radiating to the legs and fecal dysfunction. The patient underwent a sacral laminectomy and subtotal excision of the tumor, followed by adjuvant radiotherapy with favorable outcomes. This report highlights the significance of tailored approaches for unconventional tumor locations emphasizes the potential benefits of multimodal treatment strategies and provides insights from a comprehensive literature review on similar cases.

Chest wall bone late recurrence of an endometrial adenocarcinoma.

Among gynecological malignancies, Endometrial cancer stands out as the most prevalent form of carcinoma. However, Adenocarcinoma is the most frequent histological type of Endometrial cancer. Endometrial metastases are generally confined to pelvis, and distant metastases are seen primarily in the lymph nodes, lungs, or liver. bone Endometrial metastases are detected from 2% to 6% at diagnosis. Bones metastasis are generally restricted to the pelvis, vertebrae, and femur. Other locations such as the peripheral skeletal, chest wall, cranium and bone recurrence later after initial treatment are very unusual. In cases of bone recurrence, adenocarcinoma is the most seen. CT and PET/CT scan are the most useful diagnostic modality for the detection of a bone metastasis. Here, we report a chest wall bone late recurrence of an endometrial adenocarcinoma.

Breast metastases from primary tumor of the urinary tract: case series.

Breast metastasis from urological tract is exceptional, with a few sporadic cases reported in the literature. They can be confused with a primary breast cancer, especially in patients without clinical history, leading to an inappropriate and invasive treatment. Therefore, we have summarized some characteristics of metastatic breast tumors through this retrospective study.

Male breast myofibroblastoma: Imaging features and ultrasound-guided core biopsy diagnosis.

Mammary myofibroblastoma is a rare mesenchymal neoplasm that typically presents in older men and women. Less commonly, these benign tumors may also occur in soft tissues located outside of the breast, in which case they are referred to as mammary-type myofibroblastomas. The histologic composition of this benign spindle cell tumor can be markedly varied. We present one such case of myofibroblastoma of the male breast, describing its sonographic appearance and its diagnosis using ultrasound-guided core biopsy.

Targeted Gene Panel Sequencing Unveiled New Pathogenic Mutations in Patients With Breast Cancer.

The increasing commercialization of new gene panels based on next-generation sequencing for clinical research has significantly improved our understanding of breast cancer genetics and has led to the discovery of new mutation variants. The study included 16 unselected Moroccan breast cancer patients tested with multi-gene panel (HEVA screen panel) using Illumina Miseq, followed by Sanger sequencing to validate the most relevant mutation. Mutational analysis revealed the presence of 13 mutations (11 single-nucleotide polymorphisms [SNPs] and 2 indels), and 6 of 11 identified SNPs were predicted as pathogenic. One of the 6 pathogenic mutations was c.7874G>C, a heterozygous SNP in HD-OB domain of BRCA2 gene, which led to the arginine to threonine change at codon 2625 of the protein. This work describes the first case of a patient with breast cancer harboring this pathogenic variant and analyzes its functional impact using molecular docking and molecular dynamics simulation. Further experimental investigations are needed to validate its pathogenicity and to verify its association with breast cancer.

Corrigendum to "Male breast myofibroblastoma: Imaging features and ultrasound-guided core biopsy diagnosis" [Radiol Case Rep 2023;18:830-4].

[This corrects the article DOI: 10.1016/j.radcr.2022.11.029.].

Triple negative breast cancer in Moroccan women: clinicopathological and therapeutic study at the National Institute of Oncology.

BACKGROUND: Triple-negative breast cancer (TNBC) is defined by the lack of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER-2) expression. This is an aggressive malignancy with a poor prognosis despite the high rates of response to chemotherapy. The aim of this study is to determine the clinicopathological, therapeutic features and outcomes associated with this type of breast cancer. METHODS: This is a retrospective study of confirmed triple negative breast cancer females collected at the National institute of oncology of Rabat in Morocco, between January 2007 and December 2008. Epidemiological, clinical, histological, therapeutic and evolutive data were analyzed. OS and DFS rates were estimated by Kaplan-Meier analysis. RESULTS: A total of one 152 patients with breast cancer, were identified as having triple-negative breast cancer (16,5%). The median age at diagnosis was 46 years. 130 patients (86%) had infiltrating ductal carcinoma and thirteen had medullar carcinoma (9%). 84 cases (55%) were grade III Scarff-Bloom-Richardson (SBR). 48 % had positive lymph nodes, and 5 % had distant metastases at diagnosis. According TNM staging, 12 patients (8%) had stage I, 90 patients (60%) had stage II and the 43(28%) had stage III. 145 patients received surgery. 41 (28%) had conservative surgery and 104 (72%) received radical mastectomy with axillary lymph nodes dissection. 14 patients with advanced tumors or inflammatory breast cancer have received neoadjuvant chemotherapy and four patients (28%) had complete pathologic response. From 131 patients how received adjuvant chemotherapy, 99 patients (75,5%) had Anthracycline based chemotherapy) and 27 patients (20,6%) had sequential Anthracycline and docetaxel,. Seven patients with metastatic disease received anthracycline-based regimen in the first line metastatic chemotherapy. The median follow-up time was 46 months (range 6,1 -60 months). Overall survival at 5 years for all patients was 76,5%. CONCLUSION: These results suggest that most TNBC characteristics in Moroccan patients are in accordance with literature data, especially concerning young age at diagnosis high grade tumors, advanced stage at diagnosis, and short time to relapse. Although the high response rate to chemotherapy, the overall prognosis of this subset of tumors remains poor.

An unusual variant of lipoma: case report.

Osteo-lipoma is a very rare benign tumor with a good prognosis. It is composed mainly of mature fatty tissue with a bony component. The diagnosis is based on the histological study, given the clinical and radiological characters that can simulate other benign or malignant pathologies. Osteosarcoma is the main differential diagnosis. The distinction between these two neoplasms is essential as the basis of the treatment is different. We report the case of a patient with a giant ossifying lipoma independent of bone tissue located in the thigh.

Breast metastasis 18 years after nephrectomy for renal cell carcinoma: a case report.

Metastasis of renal clear cell carcinoma (RCC) to the breast is exceptional. Breast metastases of extra-mammary tumors are rare and usually involve melanoma, lymphoma or leukemia. We report the case of a patient with breast metastasis of renal clear cell carcinoma occurring 18 years after nephrectomy. A history of RCC should always raise suspicion about breast metastasis, a situation that remains exceptional and whose diagnosis relies on anatomopathology.

Diffuse malignant peritoneal mesothelioma mimicking ovarian cancer.

Diffuse malignant peritoneal mesothelioma (DMPM) and peritoneal carcinomatosis have similar computed tomography imaging features. Peritoneal carcinomatosis is a known metastatic site for many malignancies and particularly gastrointestinal tract and ovarian cancers. Also, DMPM can masquerade as an ovarian epithelial neoplasm, with very similar clinical presentation and an overlap in imaging findings. When no evident primary tumor is detected other than the peritoneal disease, primary malignant mesothelioma should be considered. Since accurate diagnosis is essential for treatment management, the gold standard in differentiating between these two entities lies in histological analysis. We report a case of DMPM that was initially misdiagnosed as an ovarian cancer, where the biopsy of a peritoneal nodule was able to correct and confirm the diagnosis of DMPM.