Thyroid cancer in a patient with a germline MSH2 mutation. Case report and review of the Lynch syndrome expanding tumour spectrum

Table 2 Unusual tumours in patients with Lynch syndrome

Tumour type	Age	Gene	Mutation	MSI	IHC MLH1	IHC MSH2	IHC MSH6	Ref.
Non-Hodgkin's lymphoma	48	MSH2	large rearrangement	high	+	-	-	45
Rhabdomyosarcoma, pleomorphic	34	MSH2	not published	high	+	-	ND	46
Breast carcinoma, ductal	49	MSH2	c.1705-1706 del GA	high	+	-	-	3
Fibrous histiocytoma, malignant	45	MSH2	p.G429X	high	+	-	ND	4
Adrenal cortical carcinoma	34	MSH2	c.IVS10+1G>A	low	+	-	ND	18
Thyroid carcinoma, anaplastic	39	MSH2	p.Q824X	low	+	-	ND	18
Thyroid carcinoma, undifferentiated	44	MSH2	c.1704_1705 del AG	low	+	-	-	C
Pancreatic medullary carcinoma	63	MSH2	c.C1147T p.R383X	high	+	-	-	47
Prostate adenocarcinoma	61	MSH2	c.del exon 5	high	+	-	-	48
Liposarcoma	40	MSH2	c.del AT codon 677	ND	+	-	ND	49
Hepatic cholangiocarcinoma, mucinous	41	MSH2	c.T2026C	high	+	-	-	50
Uterine carcinosarcoma	46	MLH1	c.G1896C p.E632D	ND	-	+	ND	51
Renal cell carcinoma, clear cell^A	51	MLH1	c.C1528T	high	-	ND	ND	1
Breast carcinoma^A, ductal	34	MLH1	c.C1528T	high	-	ND	ND	1
Breast carcinoma, male ductal	71	MLH1	4 bp dup in codon 755-756	high	ND^B	ND	ND	52
Breast carcinoma, male	46	MLH1	c.2215-2218 dup AAAC	high	ND^B	ND	ND	2

ND - not determined, IHC - results from immunohistochemical staining of the tumour for the protein coded by that gene, MSI - classification of the tumour microsatellite instability test results
^Ain this South-African family 5 breast cancer patients and a relative with renal cell cancer all carried the same mutation and showed microsatellite instability and loss of MLH1 protein in their tumours
^Bin this tumour loss of heterozygosity for MLH1 was detected
^Cpatient reported in this paper

ISSN: 1897-4287