AIM:To determine the prevalence of a family history suggestive of Lynch syndrome (LS) among patients with colorectal cancer (CRC) followed in a coloproctology outpatient clinic in Southern Brazil.METHODS:A consecutive...AIM:To determine the prevalence of a family history suggestive of Lynch syndrome (LS) among patients with colorectal cancer (CRC) followed in a coloproctology outpatient clinic in Southern Brazil.METHODS:A consecutive sample of patients with CRC were interviewed regarding personal and family histories of cancer.Clinical data and pathology features of the tumor were obtained from chart review.RESULTS:Of the 212 CRC patients recruited,61 (29%) reported a family history of CRC,45 (21.2%) were diagnosed under age 50 years and 11 (5.2%) had more than one primary CRC.Family histories consistent with Amsterdam and revised Bethesda criteria for LS were identified in 22 (10.4%) and 100 (47.2%) patients,respectively.Twenty percent of the colorectal tumors had features of the high microsatellite instability phenotype,which was associated with younger age at CRC diagnosis and with Bethesda criteria (P < 0.001).Only 5.3% of the patients above age 50 years had been previously submitted for CRC screening and only 4% of patients with suspected LS were referred for genetic risk assessment.CONCLUSION:A significant proportion of patients with CRC were at high risk for LS.Education and training of health care professionals are essential to ensure proper management.展开更多
Bloom＇s syndrome is a rare disease that is related to an increased risk of developing malignant neoplasm. The patient reported was followed up with several hospital staff when she was diagnosed with gastric cancer, b...Bloom＇s syndrome is a rare disease that is related to an increased risk of developing malignant neoplasm. The patient reported was followed up with several hospital staff when she was diagnosed with gastric cancer, but unfortunately, she had already peritoneal implants in moment of the surgery approach. It has been reported in the literature that patients with this syndrome present greater toxicity to the chemotherapeutic treatment, however due to the rarity of the disease, it is not known exactly how the adjustment of these drugs should be performed and which is the better protocol to use. Palliative chemotherapy was proposed, but after receiving one dose of the initially treatment, she developed severe and limiting toxicity.展开更多
文摘AIM:To determine the prevalence of a family history suggestive of Lynch syndrome (LS) among patients with colorectal cancer (CRC) followed in a coloproctology outpatient clinic in Southern Brazil.METHODS:A consecutive sample of patients with CRC were interviewed regarding personal and family histories of cancer.Clinical data and pathology features of the tumor were obtained from chart review.RESULTS:Of the 212 CRC patients recruited,61 (29%) reported a family history of CRC,45 (21.2%) were diagnosed under age 50 years and 11 (5.2%) had more than one primary CRC.Family histories consistent with Amsterdam and revised Bethesda criteria for LS were identified in 22 (10.4%) and 100 (47.2%) patients,respectively.Twenty percent of the colorectal tumors had features of the high microsatellite instability phenotype,which was associated with younger age at CRC diagnosis and with Bethesda criteria (P < 0.001).Only 5.3% of the patients above age 50 years had been previously submitted for CRC screening and only 4% of patients with suspected LS were referred for genetic risk assessment.CONCLUSION:A significant proportion of patients with CRC were at high risk for LS.Education and training of health care professionals are essential to ensure proper management.
文摘Bloom＇s syndrome is a rare disease that is related to an increased risk of developing malignant neoplasm. The patient reported was followed up with several hospital staff when she was diagnosed with gastric cancer, but unfortunately, she had already peritoneal implants in moment of the surgery approach. It has been reported in the literature that patients with this syndrome present greater toxicity to the chemotherapeutic treatment, however due to the rarity of the disease, it is not known exactly how the adjustment of these drugs should be performed and which is the better protocol to use. Palliative chemotherapy was proposed, but after receiving one dose of the initially treatment, she developed severe and limiting toxicity.
