The National replication repair deficiency (RRD) Advisory Group is a wide ranging team of clinicians and scientists that aim to provide advice on the management of malignant diseases that result from the rare loss of DNA replication repair.
Our focus will primarily be on cases with Constitutional Mismatch Repair Deficiency Syndrome (CMMRD), an extremely uncommon yet distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2. The range of malignancies observed in this group can be varied but typically involves brain, haematological or intestinal malignancies. Due to the rarity of this syndrome, knowing how to manage malignant disease within the confines of CMMRD cases can be challenging for clinical teams ; the group will aim to support referring centres in this regard.
The aim of the group is to provide a forum for referrals, networking, discussion and sharing of best practice in the management of a specific tumour types implicated in RRD cases, aligning with European (C4MMRD) and International (IRRDC) Consortia. The group hopefully will also enable exploration, support and creation of UK research opportunities in the field.
Chair: Prof JP Kilday, Manchester Children's Hospital
Referrals
The CCLG National Replication Repair Deficiency Advisory Panel comprises a panel of expert members incorporating specialists from paediatric oncology & haematology, clinical genetics, imaging, histopathology and molecular biology. Treatment decisions remain at the sole discretion of local treating clinicians who retain professional responsibility for their actions and treatment decisions. There is no obligation or commitment to take the suggestions offered by the panel.
The panel will aim to provide a ‘summary of discussion/opinion’ approximately 2-3 weeks following referral being received. If a second opinion of pathology is required, the reviewing pathology team will charge the referring centre their usual fee for the review as standard practice. Due to the rarity of these cases, the panel will aim to hold a videoconference meeting incorporating available panel members and the local Clinical Lead to discuss the case, but in parallel will accrue e-mail responses from unavailable panel members to the questions raised and present these in the meeting also. Please remember these responses are all opinions based on the information the panel is given and this is not a formal multidisciplinary team meeting. It remains the responsibility of the local treating team to make a final treatment decision in conjunction with the family.
To make a referral, please download and complete the referral for below, and email to RRDNAP@cclg.org.uk