Implementation of universal microsatellite instability and immunohistochemistry
screening for diagnosing lynch syndrome in a large academic medical center
#MMPMID23401454
Heald B
; Plesec T
; Liu X
; Pai R
; Patil D
; Moline J
; Sharp RR
; Burke CA
; Kalady MF
; Church J
; Eng C
J Clin Oncol
2013[Apr]; 31
(10
): 1336-40
PMID23401454
show ga
PURPOSE: In 2009, the Evaluation of Genomic Applications in Practice and
Prevention recommended that all colorectal cancers (CRCs) be screened for Lynch
syndrome (LS) through microsatellite instability (MSI) or immunohistochemistry
(IHC). No studies report how this process is implemented on a health system-wide
basis. METHODS: Since 2004, Cleveland Clinic has screened CRC specimens with
MSI/IHC. Between January 2004 and July 2007, MSI/IHC results went only to the
colorectal surgeon (approach 1). Between August 2007 and June 2008, colorectal
surgeons and a genetic counselor received the MSI/IHC results, and the counselor
e-mailed the colorectal surgeon regarding appropriate patients for genetic
counseling (GC) referral (approach 2). After July 2008, the colorectal surgeon
and counselor received MSI/IHC results, but the counselor contacted the patient
to facilitate referral (approach 3). In approaches 2 and 3, patients were
presumed to have sporadic CRC if the tumor lacked MLH1 expression and was also
BRAF mutated or if the patient was diagnosed at age greater than 72 years and had
no cancer family history. RESULTS: Abnormal MSI/IHC results occurred in 178 (16%)
of 1,108 patients. In approach 1, 21 (55%) of 38 patients with abnormal MSI/IHC
were referred for GC, 12 (32%) of 38 underwent GC, and 10 (26%) of 38 underwent
genetic testing (GT). In approach 2, nine (82%) of 11 patients were referred for
GC, seven (64%) of 11 underwent GC, and five (45%) of 11 underwent GT. In
approach 3, 56 (100%) of 56 patients were referred for GC, 40 (71%) of 56
underwent GC, and 37 (66%) of 56 underwent GT. Time from referral to GC was
10-fold quicker in approach 3 than approach 1. CONCLUSION: Implementation of
universal MSI/IHC with GC/GT, along with effective multidisciplinary
communication and plans of responsibility for patient contact, resulted in
increased identification of patients with LS.
|*Microsatellite Instability
[MESH]
|Academic Medical Centers
[MESH]
|Adaptor Proteins, Signal Transducing/genetics/metabolism
[MESH]
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