Table 3

Response of colorectal cancer (CRC) to chemotherapy in CMMR-D

Author/yearType of tumourGene defectAge (years)SurgeryChemotherapyRadio therapyResponseStatus
Gallinger/20043× CRCMLH19Subtotal colectomy (3 polyps)Irinotecan, 5FU, leucovorinNoNo evidence recurrenceAfter 11 months alive
Gururangan/2007CRC sigmoidPMS214Pancolectomy5FU, leucovorinYesNo evidence recurrenceDied 7 years later from brain tumour
Tan/2008CRCPMS215Low anterior resectionFOLFOX4/12×No
Panproctocolectomy (3× CRC, >10 polyps in specimen)Not reportedNot reported
Jackson/2008CRC sigmoid liver metastasesPMS214Resection sigmoid, partial liver resection; colectomyOxaliplatin, capacitabine.5 months later recurrence rectal cancer
14Resection rectal cancer, RFA liver metastases,Irinotecan, 5FU, bevacizumabNot reportedAlive
Kruger/2008Sigmoid CRCPMS213Sigmoid resection, later panproctocolectomy (multiple polyps, CRC right colon)FOLFOX/10 monthsNoNo evidence recurrenceAlive
Rahner/20084× CRCMSH617ColectomyCetuximabNoNot reported
Toledano/2009Rectal cancer, 20 polypsMSH214Panproctocolectomy (100 polyps)FOLFOXYesRelapse after 2 months
FOLFIRI/avastinDied 12 months after diagnosis from brain tumour
Vasovcak/2012Rectal cancerPMS213ResectionCapecitabine, oxaliplatin, followed by cetuximab, irinotecanResistant after 4 cycles
YesDied after short remission 17 months later
Lindsay/2013CRC, liver metastasesPMS212Left hemicolectomyFolinic acid, 5FU, oxaliplatin; later irinotecan, 5FU, LeucovorinNoPartial remission2 years later new liver metastases; died from progressive leukoencephalopathy
  • 5FU, fluorouracil; CMMR-D, constitutional mismatch repair-deficiency; CRC, colorectal cancer; FOLFIRI, folinic acid, fluorouracil and irinotecan; FOLFOX, folinic acid, fluorouracil and oxaliplatin; RFA, radio frequency ablation.