Lynch syndrome is the fourth most common cancer in the United States, with an early age of onset and poor prognosis. Here, we present a unique case of a patient with progressive colon cancer due to a late diagnosis of...Lynch syndrome is the fourth most common cancer in the United States, with an early age of onset and poor prognosis. Here, we present a unique case of a patient with progressive colon cancer due to a late diagnosis of Lynch syndrome showing excellent response to immunotherapy. A 59-year-old male with a history of rectal cancer 30 years ago came to the hospital due to a fever and further found a large necrotic colon mass. Biopsy was positive for colorectal cancer;however, due to the size of the tumor, the patient was deemed not a surgical candidate and offered hospice with palliative chemotherapy. Based on further workup, the patient was diagnosed with Lynch syndrome, with colon cancer determined to be responsive to Immunotherapy. He was started on JEMPERLI (Dosterlimab-gxly), and after three cycles of therapy, imaging and PET scan were repeated, showing decreased activity and extent of the tumor—a tremendous success.展开更多
BACKGROUND The development mechanisms of Lynch syndrome(LS)-related breast cancer(BC)and rectal cancer are complex and variable,leading to personalized variations in diagnosis and treatment plans.CASE SUMMARY This pap...BACKGROUND The development mechanisms of Lynch syndrome(LS)-related breast cancer(BC)and rectal cancer are complex and variable,leading to personalized variations in diagnosis and treatment plans.CASE SUMMARY This paper presents a comprehensive review of clinical diagnosis and treatment data from a patient with LS-associated BC and rectal cancer.Moreover,screening data and management guidelines,as well as relevant literature on LS,are included in this report.This study summarizes the molecular pathogenesis,clinicopathological features,and screening and management protocols for LS-associated BC and rectal cancer.CONCLUSION Implementing early screening,prevention,and timely diagnosis and treatment measures is expected to reduce mitigate the incidence and mortality of LS-related BC and rectal cancer.展开更多
文摘Lynch syndrome is the fourth most common cancer in the United States, with an early age of onset and poor prognosis. Here, we present a unique case of a patient with progressive colon cancer due to a late diagnosis of Lynch syndrome showing excellent response to immunotherapy. A 59-year-old male with a history of rectal cancer 30 years ago came to the hospital due to a fever and further found a large necrotic colon mass. Biopsy was positive for colorectal cancer;however, due to the size of the tumor, the patient was deemed not a surgical candidate and offered hospice with palliative chemotherapy. Based on further workup, the patient was diagnosed with Lynch syndrome, with colon cancer determined to be responsive to Immunotherapy. He was started on JEMPERLI (Dosterlimab-gxly), and after three cycles of therapy, imaging and PET scan were repeated, showing decreased activity and extent of the tumor—a tremendous success.
基金Supported by The Natural Science Foundation from Guangxi,No.2024GXNSFBA010056The Guangxi Zhuang Autonomous Region Health Committee Self-Funded Scientific Research,No.Z-R20231938The Guangxi Medical University Youth Science Fund Project,No.GXMUYSF202333.
文摘BACKGROUND The development mechanisms of Lynch syndrome(LS)-related breast cancer(BC)and rectal cancer are complex and variable,leading to personalized variations in diagnosis and treatment plans.CASE SUMMARY This paper presents a comprehensive review of clinical diagnosis and treatment data from a patient with LS-associated BC and rectal cancer.Moreover,screening data and management guidelines,as well as relevant literature on LS,are included in this report.This study summarizes the molecular pathogenesis,clinicopathological features,and screening and management protocols for LS-associated BC and rectal cancer.CONCLUSION Implementing early screening,prevention,and timely diagnosis and treatment measures is expected to reduce mitigate the incidence and mortality of LS-related BC and rectal cancer.