Clinical surveillance strategies aimed at early detection of a diverse tumor spectrum have been successfully implemented for many cancer susceptibility syndromes.
Gastrointestinal screening and surveillance recommendations in Lynch syndrome have been developed based on prospective studies involving large series of patients. In Lynch syndrome colonoscopy screening reduces the risk of colorectal cancer, prevents deaths from colon cancer, and decreases overall mortality.
In light of cancer risks and increased mortality in patients with BMMRD syndrome, we developed a cancer surveillance protocol for children and adults in this population.
Long term follow-up has allowed early detection of low grade tumors and cancers at stages amenable to resection.
Prospective monitoring of surveillance of BMMRD patients from around the world and collection of clinical information is helping better define the phenotype of this population and guide management.
Genetic screening and subsequent surveillance led to earlier recognition of asymptomatic tumors at stages more amenable to resection and probable cure.
It is crucial to evaluate the entire gastrointestinal tract as synchronous tumors are very common in BMMRD.
Minor changes on MRI have led to the early recognition of brain tumors at stages amenable to resection and cure.
Once patients with BMMRD are 18 years of age, urinary tract and gynecological screening is recommended as in Lynch syndrome.
Ongoing surveillance of the entire gastrointestinal tract is recommended throughout adulthood. As more prospective surveillance data is collected and studied the surveillance recommendations will likely be refined.
Considerations should be given to full-body MRI or PET-CT ± colonoscopy depending on the age of the patient especially if treatment for already existing cancer is commencing. Cases with several simultaneous cancers have been described in this population.
Phenotypic and genotypic characterization of biallelic mismatch repair deficiency (BMMR-D) syndrome. Carol A. Durno, Philip M. Sherman, Melyssa Aronson, David Malkin, Cynthia Hawkins, Doua Bakry, Eric Bouffet, Steven Gallinger, Aaron Pollett, Brittany Campbell, Uri Tabori, International BMMRD Consortium. Eur J Cancer. 2015 May;51(8):977-83.
Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred. Carol A. Durno, Melyssa Aronson, Uri Tabori, David Malkin, Steven Gallinger, Helen S. L. Chan. October 2012, Volume59(Issue4) Page p.652To-656.
If you have further questions about or require assistance in determining of the appropriate surveillance schedule for your BMMRD patient, please contact us.