Table 3

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

Author/year	Type of tumour	Gene defect	Age (years)	Surgery	Chemotherapy	Radio therapy	Response	Status
Gallinger/2004	3× CRC	MLH1	9	Subtotal colectomy (3 polyps)	Irinotecan, 5FU, leucovorin	No	No evidence recurrence	After 11 months alive
Gururangan/2007	CRC sigmoid	PMS2	14	Pancolectomy	5FU, leucovorin	Yes	No evidence recurrence	Died 7 years later from brain tumour
Tan/2008	CRC	PMS2	15	Low anterior resection	FOLFOX4/12×	No
				Panproctocolectomy (3× CRC, >10 polyps in specimen)			Not reported	Not reported
Jackson/2008	CRC sigmoid liver metastases	PMS2	14	Resection sigmoid, partial liver resection; colectomy	Oxaliplatin, capacitabine.			5 months later recurrence rectal cancer
			14	Resection rectal cancer, RFA liver metastases,	Irinotecan, 5FU, bevacizumab		Not reported	Alive
Kruger/2008	Sigmoid CRC	PMS2	13	Sigmoid resection, later panproctocolectomy (multiple polyps, CRC right colon)	FOLFOX/10 months	No	No evidence recurrence	Alive
Rahner/2008	4× CRC	MSH6	17	Colectomy	Cetuximab	No		Not reported
Kratz/2009	CRC	PMS2	8	Transversectomy	FOLFOX			Alive
Toledano/2009	Rectal cancer, 20 polyps	MSH2	14	Panproctocolectomy (100 polyps)	FOLFOX	Yes		Relapse after 2 months
					FOLFIRI/avastin			Died 12 months after diagnosis from brain tumour
Vasovcak/2012	Rectal cancer	PMS2	13	Resection	Capecitabine, oxaliplatin, followed by cetuximab, irinotecan			Resistant after 4 cycles
						Yes		Died after short remission 17 months later
Lindsay/2013	CRC, liver metastases	PMS2	12	Left hemicolectomy	Folinic acid, 5FU, oxaliplatin; later irinotecan, 5FU, Leucovorin	No	Partial remission	2 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.