We are reporting the longest disease-free interval ever published for colorectal cancer, using gene profiling to confirm the linkage of the primary and metastasis. This rare case reports on a patient with late recurre...We are reporting the longest disease-free interval ever published for colorectal cancer, using gene profiling to confirm the linkage of the primary and metastasis. This rare case reports on a patient with late recurrence of colorectal cancer in the lung 19 years after its initial diagnosis. We used high-resolution array CGH(aCGH) to analyze the genetic aberrations of both the primary rectal and the recurrent metastatic lung lesions. Interestingly, we found striking similarities between the two lesions, despite the 19 years disease-free interval.In addition, most of the genes that were previously reported to be associated with a high recurrence score showed copy number gains by aCGH in one or both lesions. Our findings suggest that aCGH may be a helpful tool in analyzing the origin of metastatic lesions and reflect the need for a better understanding of the characteristics of the rectal tumors with a late recurrence potential.展开更多
Dear Editor,The incidence of rectal cancer has increased in patients younger than 50 years old during the last decade.It is well established that young age at cancer onset is a hallmark of hereditary cancer.The preval...Dear Editor,The incidence of rectal cancer has increased in patients younger than 50 years old during the last decade.It is well established that young age at cancer onset is a hallmark of hereditary cancer.The prevalence of germline variants among early-onset rectal cancer(EORC)patients is largely unexplored.Here,we aimed to determine the spectrum of germline variants and their clinical impact in EORC patients diagnosed at age 40 or younger.We investigated 71 EORC patients(Supplementary Table S1),one of the largest cohorts to date,using a customized panel with 93 genes(Supplementary Table S2).展开更多
基金Supported by Lombardi Comprehensive Cancer Center,Georgetown University Medical Center,Washington,DC,United States
文摘We are reporting the longest disease-free interval ever published for colorectal cancer, using gene profiling to confirm the linkage of the primary and metastasis. This rare case reports on a patient with late recurrence of colorectal cancer in the lung 19 years after its initial diagnosis. We used high-resolution array CGH(aCGH) to analyze the genetic aberrations of both the primary rectal and the recurrent metastatic lung lesions. Interestingly, we found striking similarities between the two lesions, despite the 19 years disease-free interval.In addition, most of the genes that were previously reported to be associated with a high recurrence score showed copy number gains by aCGH in one or both lesions. Our findings suggest that aCGH may be a helpful tool in analyzing the origin of metastatic lesions and reflect the need for a better understanding of the characteristics of the rectal tumors with a late recurrence potential.
基金This study was supported by grants from the Region of Southern Denmark Research Fund,Denmark,and the National Institute of Science and Technology in Oncogenomics(INCITO,FAPESP#2008/57887-9 and CNPq#573589/08-9)Brazil.Caroline Moraes Beltrami received a fellowship from the National Council for Scientific and Technological Development(CNPq#371497/2013-2)Luisa Matos do Canto received a fellowship from the Sao Paulo Research Foundation(FAPESP#2014/06323-9 and#2015/25803-4).
文摘Dear Editor,The incidence of rectal cancer has increased in patients younger than 50 years old during the last decade.It is well established that young age at cancer onset is a hallmark of hereditary cancer.The prevalence of germline variants among early-onset rectal cancer(EORC)patients is largely unexplored.Here,we aimed to determine the spectrum of germline variants and their clinical impact in EORC patients diagnosed at age 40 or younger.We investigated 71 EORC patients(Supplementary Table S1),one of the largest cohorts to date,using a customized panel with 93 genes(Supplementary Table S2).
