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DPYD genotype should be extended to rare variants: report on two cases of phenotype / genotype discrepancy.
Cancer Chemother Pharmacol
January 2025
Service de Génomique des Tumeurs et Pharmacologie, Hôpital Saint-Louis, Assistance Publique Hôpitaux de Paris, Paris, France.
The enzyme dihydropyrimidine dehydrogenase (DPD) is the primary catabolic pathway of fluoropyrimidines including 5 fluorouracil (5FU) and capecitabine. Cases of lethal toxicity have been reported in cancer patients with complete DPD deficiency receiving standard dose of 5FU or capecitabine. DPD is encoded by the pharmacogene DPYD in which more than 200 variants have been identified.
View Article and Find Full Text PDFLong-term complete remission of two patients with synchronous liver metastasis from pancreatic cancer and underlying BRCA-2 mutation.
Acta Gastroenterol Belg
January 2025
Department of Gastroenterology, UZ Ghent, Ghent, Belgium.
Background: Pancreatic ductal adenocarcinoma (PDAC) has a known poor prognosis. For a select group, those with BRCA mutations, frontline platinum-based therapy and poly (ADPribose) polymerase inhibitors are options that can potentially lead to survival benefit.
Patients And Methods: We present 2 cases of patients with BRCAmutated pancreatic cancer with liver metastases that achieved a remarkable long-term complete remission on platinum-based chemotherapy.
Ipsilateral Rockwood type V acromioclavicular joint dislocation and midshaft clavicle fracture: A case report.
World J Orthop
December 2024
Department of Orthopedic Surgery, King Saud Medical City, Riyadh 00966, Saudi Arabia.
Background: Clavicle fractures are among the most common fractures seen in the emergency department. While acromioclavicular (AC) joint injuries are much less common. However, ipsilateral combinations of these injuries are quite rare with only a few cases reported in the literature.
View Article and Find Full Text PDFToripalimab plus chemotherapy for metastatic muscle-invasive bladder cancer with a high tumor proportion score: a case report.
Front Immunol
January 2025
Department of Urology, Urologic Surgery Center, Xinqiao Hospital, Third Military Medical University (Army Medical University), Chongqing, China.
Background: Radical cystectomy (RC) combined with pelvic lymph node dissection (PLND) is the standard treatment for muscle-invasive bladder cancer (MIBC). For metastatic MIBC patients, platinum-based chemotherapy remains the first choice treatment. However, approximately 50% of patients with metastatic MIBC are ineligible for platinum-based adjuvant chemotherapy because of impaired renal function.
View Article and Find Full Text PDFPrimary perianal alveolar rhabdomyosarcoma with uncommon metastatic sites: a case report and follow-up using F-FDG PET/CT.
Front Med (Lausanne)
December 2024
Department of Nuclear Medicine, Peking University First Hospital, Beijing, China.
Background: Rhabdomyosarcoma (RMS), a rare pediatric soft tissue neoplasm, predominantly develops in late childhood and adolescence with no discernible gender bias. Alveolar rhabdomyosarcoma (ARMS) stems from mesenchymal cells and may develop most frequently in the trunk, extremities, and head/neck areas, while occurrences in the pelvic cavity are less frequent. The manifestation is typically characterized by a high rate of aggressive metastasis and a poor overall survival prognosis.
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