Int J Surg Case Rep
August 2023
Introduction And Importance: Primary pleomorphic liposarcoma of bone is an exceedingly rare sarcoma.
Case Presentation: We herein report the case of a primary pleomorphic liposarcoma of the distal femur in a 20-year-old female patient. Magnetic resonance imaging showed a 25.
Introduction: Primary osseous Rosai-Dorfman disease (RDD) is a rare and benign disease that can pose diagnosis challenges.
Presentation Of The Case: We report the case of a 29-year-old woman who presented with pain in her left patellar region for the past 6 months with no other clinical sign especially no lymphadenopathy associated. A surgical excision was done.
Background: Li-Fraumeni syndrome (LFS) is a rare autosomal hereditary predisposition to multiples cancers, mainly affecting young individuals. It is characterized by a broad tumor spectrum. To our best knowledge, only one Tunisian study with a confirmed LFS was published.
View Article and Find Full Text PDFBackground: Beckwith-Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely associated with tumors compared to paternal uniparental disomy of chromosome 11 (UPD(11)pat) and gain of methylation of imprinting center 1.
Methods: Our study aimed to describe the clinical, histopathological and genetic characteristics of two patients and establish genotype-phenotype correlations.