ABSTRACT
Introduction: Gastrointestinal stromal tumours (GISTs) are an important, though uncommon, cause of obscure gastrointestinal bleeding and may rarely be associated with genodermatoses such as neurofibromatosis type 1 (NF1). NF1-related GISTs have unique phenotypic features compared with sporadic GISTs and may elude diagnosis due to their predilection for the small bowel. Case Presentation: We report a case of a 45-year-old Singaporean woman with café-au-lait macules and cutaneous neurofibromas who presented with occult obscure gastrointestinal bleeding and was eventually discovered to have a bleeding jejunal GIST. This finding, considered together with her cutaneous signs, eventually led to the diagnosis of NF1. Conclusion: Genodermatoses and their gastrointestinal complications are likely under-reported in adult Southeast Asian populations and deserve greater awareness from gastroenterologists practising in this region.
Subject(s)
Carcinoma, Hepatocellular/genetics , Carcinoma, Neuroendocrine/genetics , Gene Rearrangement , Liver Neoplasms/genetics , Neoplasms, Multiple Primary/genetics , RNA-Binding Protein EWS/genetics , Aged , Carcinoma, Hepatocellular/pathology , Carcinoma, Neuroendocrine/pathology , Humans , Liver Neoplasms/pathology , Male , Neoplasms, Multiple Primary/pathologyABSTRACT
The fat-forming variant of solitary fibrous tumor is rare. It occurs predominantly in the deep soft tissues of the retroperitoneum and thigh. We describe a case of fat-forming solitary fibrous tumor arising from the pleura, which was successfully treated using a video-assisted thoracoscopic approach. The patient remained free of recurrence 2 years after surgery and continues to be under long-term follow-up.
Subject(s)
Adipose Tissue/pathology , Pleural Neoplasms/pathology , Solitary Fibrous Tumor, Pleural/pathology , Adipose Tissue/surgery , Adult , Biopsy , Humans , Male , Pleural Neoplasms/surgery , Solitary Fibrous Tumor, Pleural/surgery , Thoracic Surgery, Video-Assisted , Time Factors , Tomography, X-Ray Computed , Treatment OutcomeSubject(s)
CD3 Complex/metabolism , Gene Expression Regulation, Neoplastic/genetics , Multiple Myeloma/immunology , Neoplasms, Plasma Cell/immunology , Aged , Diagnosis, Differential , Humans , Lymphoma, T-Cell/immunology , Lymphoma, T-Cell/pathology , Male , Multiple Myeloma/pathology , Neoplasms, Plasma Cell/pathology , Phenotype , Stomach/pathologyABSTRACT
Rice body formation is a nonspecific response to chronic synovial inflammation associated with tuberculous arthritis, rheumatoid arthritis, juvenile rheumatoid arthritis, seronegative inflammatory arthritis, and even osteoarthritis. Such bodies were termed rice bodies because of their close resemblance to grains of polished white rice. We present a case report of a middle-aged woman with right shoulder subacromial/subdeltoid bursitis with giant rice body formation as her initial presentation of rheumatoid arthritis. Her right shoulder symptoms resolved after subacromial and subdeltoid bursectomy and removal of the rice bodies. She subsequently developed inflammatory arthritis of other joints, met the criteria for rheumatoid arthritis, and has been treated medically.
