ABSTRACT
A 57-year-old obese, diabetic woman, presented with 1 day history of purulent umbilical discharge. She was vitally stable and afebrile. Abdominal examination revealed a full abdomen with purulent discharge from the umbilicus, swelling with erythema and induration surrounding the umbilicus. Lab tests were normal. Initial impression was abdominal wall abscess. Ultrasound showed subcutaneous fluid collection. Non-contrast CT showed collection and abdominal wall defect at the umbilicus. On exploration of the abscess cavity, there were two defects (umbilical and supraumbilical) with appendix protruding through the umbilical defect and a part of a small bowel and omentum adherent to the other defect. Wash was given, bowel and omentum were released and appendectomy was performed. Histopathology showed mucinous cystadenoma with periappendicitis. We would like to highlight the rare occurrence of an appendiceal mucinous cystadenoma in such a clinical presentation.
Subject(s)
Abdominal Abscess/diagnosis , Appendiceal Neoplasms/diagnosis , Cystadenoma, Mucinous/diagnosis , Hernia, Umbilical/diagnosis , Klebsiella Infections/diagnosis , Klebsiella pneumoniae/isolation & purification , Abdominal Abscess/complications , Abdominal Abscess/surgery , Appendiceal Neoplasms/complications , Appendiceal Neoplasms/surgery , Cystadenoma, Mucinous/complications , Cystadenoma, Mucinous/surgery , Diabetes Mellitus, Type 2/complications , Diagnosis, Differential , Female , Hernia, Umbilical/complications , Hernia, Umbilical/surgery , Humans , Klebsiella Infections/complications , Klebsiella Infections/surgery , Middle Aged , Obesity, Morbid/complications , Umbilicus/pathologyABSTRACT
Glycogen rich cell carcinoma (GRCC) is a rare subtype of primary malignant neoplasm of the breast. Less than 150 cases have been reported since its first description, thus, making its prognosis unclear and vary from one literature to another. Here we present a 5-year cancer free after the completion of chemotherapy, radiotherapy and targeted-therapy in a 55-year-old female patient with GRCC of the breast. The purpose of reporting this case is to increase the knowledge about this rare subtype of breast cancer and chance of better survival.
ABSTRACT
BACKGROUND: Breast cancer is the most common malignancy in women worldwide. About 5%-10% are due to hereditary predisposition. The contribution of BRCA1/2 mutations to familial breast cancer in Bahrain has not been explored. The objective of this study was to investigate the spectrum of BRCA1/2 genetic variants and estimate their frequencies in familial breast cancer. We also aim to test the efficiency of the next-generation sequencing (NGS) as a powerful tool for detecting genetic variation within BRCA1/2 genes. METHODS: Twenty-five unrelated female patients diagnosed with familial breast cancer were screened for BRCA1/2 variants. All targeted coding exons and exon-intron boundaries of BRCA1/2 genes were amplified with 167 pairs of primers by NGS. RESULTS: We have identified two deleterious BRCA1/2 variants in two patients, one in BRCA1 gene (c.4850C>A) and other in BRCA2 gene (c.67+2T>C). In addition to the deleterious variants, we identified 24 distinct missense variants of uncertain significance, 10 of them are seen to confer minor but cumulatively significant risk of breast cancer. CONCLUSION: Our data suggest that BRCA1/2 variants may contribute to the pathogenesis of familial breast cancer in Bahrain. It also shows that NGS is useful tool for screening BRCA1/2 genetic variants of probands and unaffected relatives.
