Background: We describe a case report of a 67-year-old male with PDAC who experienced an exceptional survival outcome during systemic therapy and its implications in precision medicine. We hypothesize that his outcomes are attributable, in part, to a germline deletion and somatic substitution.
Methods: Retrospective single-patient chart review was performed at the London Regional Cancer Program, as well as a structured literature search spanning all years in PubMed of BRCA and GNAS mutations in pancreatic cancer.
Results: The case described herein represents a 67-year-old male who survived over 27 months after third-line treatment with gemcitabine, docetaxel, and capecitabine (GTX) chemotherapy for metastatic PDAC after progression on gemcitabine and Abraxane and then on FOLFIRINOX. His survival far exceeded the median overall survival metrics. Genetic testing revealed a pathogenic heterozygous germline 6643delT p.(Tyr2215Thrfs14) frameshift mutation and somatic GNAS 2531 > p.(Arg844His) mutation.
Conclusions: This case highlights the urgent need to expand our knowledge of cancer biology to advance personalized cancer treatment and therapy development.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400294 | PMC |
| http://dx.doi.org/10.1155/2023/8751205 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Rare Case of Scrotal Swelling: Prostate Cancer Metastasis Masquerading as a Complicated Hydrocele.
Cureus
November 2024
Department of Urology, Mersey and West Lancashire Teaching Hospitals NHS Trust, Liverpool, GBR.
Metastasis of prostate cancer to the testes is exceptionally rare. We report the case of a 67-year-old male with a 10-year history of high-risk prostate cancer, previously treated and currently in remission, who presented with left scrotal swelling. The swelling was clinically and radiologically diagnosed as a hydrocele and treated surgically.
View Article and Find Full Text PDFIdiopathic scrotal calcinosis: Case report and literature review.
Int J Surg Case Rep
December 2024
Department of Outpatient, Zaozhuang Municipal Hospital, 41th, Zaozhuang, China. Electronic address:
Introduction: This case report discusses the clinical manifestations, diagnosis and treatment of idiopathic scrotal calcinosis, and reviews the literature of similar cases, providing important reference for the diagnosis and treatment of this rare disease.
Case Presentation: Idiopathic scrotal calcinosis is a rare condition characterized by calcium deposition in the skin of the scrotum. We present a case of a 67-year-old male patient with idiopathic scrotal calcinosis, a rare condition characterized by calcium deposition in the skin of the scrotum.
Scrotal Gangrene Secondary to Staphylococcus Aureus Infection: A Case Report.
Ann Ital Chir
December 2024
Department of Orthopedic, The First Affiliated Hospital of Zhejiang University, 310003 Hangzhou, Zhejiang, China.
Aim: To present a case of scrotal gangrene secondary to Staphylococcus aureus infection, highlighting the importance of early intervention and multidisciplinary care in the management of Fournier's gangrene.
Case Presentation: This case report details the clinical course of a 67-year-old male who presented with severe perineal pain and swelling, later diagnosed as Fournier's gangrene due to Staphylococcus aureus infection. The patient underwent emergency surgical debridement and received antibiotic therapy.
A Case of Posterior Cortical Atrophy in Alzheimer's Disease.
Cureus
November 2024
Internal Medicine, West Virginia School of Osteopathic Medicine, Lewisburg, USA.
This is a case of a 67-year-old male diagnosed with posterior cortical atrophy. Posterior cortical atrophy is an underdiagnosed phenomenon seen in neurodegenerative diseases, such as Alzheimer's disease. When this condition manifests in patients with Alzheimer's disease, it is known as a visual variant of Alzheimer's disease.
View Article and Find Full Text PDFPericardial Abscess Due to Salmonella Typhi Infection.
Am J Trop Med Hyg
December 2024
Department of Infectious Diseases, The First Affiliated Hospital of Bengbu Medical College, Bengbu, China.
Typhoid fever is a human-specific disease caused by subspecies of Salmonella enterica (Salmonella Typhi). It spreads through ingestion of contaminated food or water and is diagnosed through blood culture or bone marrow culture. It typically presents as an intestinal infection, with a few patients developing severe disseminated infections.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!