Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome

Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘Care for CMMRD’ (C4CMMRD)

“…Agenesis of the corpus callosum (ACC) is reported so far in four patients, and in three of these patients grey matter heterotopia was also detected 30 39. Baas and colleagues30 render evidence that these features are seen more frequently in CMMRD than in the general population. Therefore, it was suggested that ACC with or without grey matter heterotopia is associated with CMMRD and should raise the suspicion of this disorder in a paediatric cancer patient.…”

“…This approach is a reliable tool to diagnose MMR deficiency in gastrointestinal and other LS-associated tumours of CMMRD patients. However, standard MSI analysis as applied in LS frequently fails to show MSI in brain tumours42 56 57 and other malignancies 30. Currently, the reasons for this observation are unknown, but it has been shown that more subtle shifts (shortening or lengthening) of microsatellite alleles can be observed also in brain tumours and may be indicative of CMMRD 58.…”

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D)

“…All patients with CMMR-D known from literature with BT35 36 38 43 44 52 54–58 and lymphoma38 52 57 59–63 that were treated with chemotherapy are listed in tables 4 and 5. Most patients with T cell lymphomas showed a good response to chemotherapy.…”

Recommendations on surveillance and management of biallelic mismatch repair deficiency (BMMRD) syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer

“…36 As more patients with BMMRD undergo brain MRI, a central nervous system phenotype is emerging that includes agenesis of the corpus callosum, vascular changes, and gray matter heterotopias. [37][38][39] Prospective surveillance with systematic data collection of BMMRD patients undergoing MRI will add to our understanding of this disease.…”