|
|
|
|
|
|
|
|
abstract
Highlights
- •
- We identified several factors that may predict positive test results in patients with kidney cancer undergoing evaluation in a clinical genetics clinic. Although these risk factors have previously been associated with cancer syndromes, a need for studies of testing practices remains.
- •
- Our data suggest that in patients with kidney cancer evaluated for hereditary cancer syndromes, young age is associated with diagnosis of RCC syndromes, whereas syndromic manifestations and multiple primaries are found in Lynch syndrome.
- •
- These results, along with clinical pathway, suggested for evaluating patients with kidney cancer for inherited cancer syndrome may be useful for practicing urologists to select patients with kidney cancer to refer for genetic counseling.
Objective
To
analyze patients with kidney cancer referred for evaluation at a
high-volume genetics service at a comprehensive cancer center and
identify factors associated with positive tests for hereditary cancer
syndromes.
Methods
A
retrospective review of patients referred to the Clinical Genetics
Service at Memorial Sloan-Kettering Cancer Center was performed, and
patients with a personal history of kidney cancer were identified.
Patient and disease characteristics were reviewed. In all, 4 variables
including age at diagnosis of kidney tumor, presence of syndromic
manifestations, family history of kidney cancer, and number of primary
malignancies were evaluated for association with positive test results
in 2 groups: patients tested for renal cell carcinoma syndromes and
Lynch syndrome. Guidance for genetic testing strategy in patients with
kidney cancer is provided.
Results
Between
1999 and 2012, 120 patients with a history of kidney cancer were
evaluated by the Clinical Genetics Service. The mean age at kidney
cancer diagnosis was 52 years (interquartile range: 42–63), with 57%
being women. A family history of kidney cancer was reported by 39
patients (33%). Time between diagnosis of first cancer and genetic
consultation was <1 year in 54%, 2 to 5 years in 23%, and>5 years
in the remaining 23%. Overall, 95 patients were tested for genetic
abnormalities with 27 (28%) testing positive. Testing for renal cell
carcinoma (RCC)-related syndromes was performed on 43 patients, with 13
testing positive (30%). Lynch syndrome testing was positive in 9
patients (32%) after 28 were tested. In RCC-associated syndromes, young
age of diagnosis was associated with positive test results. Conversely,
syndromic manifestations and increasing number of primary malignancies
were associated with positive Lynch testing.
Conclusions
The
discovery of inherited kidney cancer syndromes has provided a unique
opportunity to identify patients at increased risk for cancer. Factors
associated with positive genetic testing are unique to different
syndromes. These data suggest that in kidney cancer patients evaluated
for hereditary cancer syndromes, young age is associated with diagnosis
of RCC syndromes, whereas syndromic manifestations and multiple
primaries are found in Lynch syndrome. These results, along with
clinical awareness, may be useful for practicing urologists to select
patients with kidney cancer to refer for genetic counseling.
0 comments :
Post a Comment
Your comments?
Note: Only a member of this blog may post a comment.