Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on negative Tunisian cancer families.

Recent advances in sequencing technologies have significantly increased our capability to acquire large amounts of genetic data. However, the clinical relevance of the generated data continues to be challenging particularly with the identification of Variants of Uncertain Significance (VUSs) whose pathogenicity remains unclear. In the current report, we aim to evaluate the clinical relevance and the pathogenicity of VUSs in DNA repair genes among Tunisian breast cancer families.

The enigmatic ear: Unveiling a rare case of a primary cutaneous CD8+ acral T-cell lymphoproliferative disorder with a literature review.

Primary cutaneous CD8+ acral T-cell lymphoproliferative disorder (CD8+ ATCLPD) is a rare form of cutaneous T-cell lymphoma that commonly presents on the acral regions of the body. We report a case of a 61-year-old man diagnosed with primary cutaneous CD8+ ATCLPD of the ear. A 61-year-old man presented with a non-healing, erythematous painful macule on the ear that had been evolving for the past 3 months.

Castleman disease of the parapharyngeal space: Diagnosis and management.

Introduction: Castleman's disease (CD) is a rare and benign disease often identified in the mediastinum with few cases in the head and neck area. Parapharyngeal Castleman's disease was rarely reported in the literature. The aim of our work was to discuss the management of this particular location of CD.

Pseudomyogenic hemangioendothelioma: A misleading vascular tumor.

Introduction: Pseudomyogenic hemangioendothelioma (PHE) is a rare vascular soft tissue tumor of intermediate malignancy. The aim of this study was to present a rare case of PHE in the back and to review its clinicopathological features, therapeutic modalities, evolutionary aspects and prognosis.

Case Presentation: We report the case of a 21-year-old man who consulted for a multinodular mass at the scapula level, that increased in size within 2 months.

Gayet-Wernicke's encephalopathy complicating prolonged parenteral nutrition in patient treated for colonic cancer - a case report.

Background: Gayet-Wernicke's encephalopathy (GWE) is a neurological pathology caused by a Thiamine deficiency. While it is most often related to chronic alcoholism, GWE can occur in any situation that results in thiamine deficiency. It is a fairly common pathology that is frequently underdiagnosed and therefore under-treated, and is associated with a high mortality and morbidity rate.

Surgical Approaches to Parapharyngeal Space Tumors: An Example and Review of the Literature.

Parapharyngeal space tumors (PPS) are rare. They represent less than 1% of all head and neck tumors. They are of various histologies.

Identification of Eleven Novel Mutations in Tunisia: Impact on the Clinical Management of Related Cancers.

Background: Breast cancer is the world's most common cancer among women. It is becoming an increasingly urgent problem in low- and middle-income countries (LMICs) where a large fraction of women is diagnosed with advanced-stage disease and have no access to treatment or basic palliative care. About 5-10% of all breast cancers can be attributed to hereditary genetic components and up to 25% of familial cases are due to mutations in /2 genes.

Identification of Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology.

and are the most commonly mutated breast cancer susceptibility genes that convey a high risk of breast and ovarian cancer. Most or mutation carriers have inherited a single heterozygous mutation. In recent years, very rare cases with biallelic or trans double heterozygous mutations on and or have been identified and seem to be associated with distinctive phenotypes.

Primary ectopic axillary breast cancer: a case series.

Introduction: Ectopic breast tissue is present in 2-6% of women. Ectopic breast cancer represents an uncommon disease accounting for about 0.3% of all breast neoplasms, limiting the available evidence.

Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia.

Hereditary breast cancer accounts for 5-10% of all breast cancer cases. So far, known genetic risk factors account for only 50% of the breast cancer genetic component and almost a quarter of hereditary cases are carriers of pathogenic mutations in BRCA1/2 genes. Hence, the genetic basis for a significant fraction of familial cases remains unsolved.

A hydatic cyst of the appendix mimicking a uterine lateral mass: a case report.

Background: Hydatic cyst is a zoonotic disease caused by Echinococcus granulosus. It is a public health problem in Tunisia and remains endemic. It occurs in intra-abdominal organs in 10-15% of the cases, particularly in the liver representing the most common affected organ.

Fertility-sparing surgery in advanced stage malignant ovarian germ cell tumor: a case report.

Background: Malignant ovarian germ cell tumor is a rare type of disease, which generally has a good prognosis due to the high chemosensitivity of this type of tumor. Fertility preservation is an important issue because malignant ovarian germ cell tumor commonly affects young women. Although conservation is the standard for early stage, it becomes more debatable as the disease progresses to more advanced stages.