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Table 2 Unusual tumours in patients with Lynch syndrome

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

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 cellA 51 MLH1 c.C1528T high - ND ND 1
Breast carcinomaA, ductal 34 MLH1 c.C1528T high - ND ND 1
Breast carcinoma, male ductal 71 MLH1 4 bp dup in codon 755-756 high NDB ND ND 52
Breast carcinoma, male 46 MLH1 c.2215-2218 dup AAAC high NDB ND ND 2
  1. 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
  2. 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
  3. Bin this tumour loss of heterozygosity for MLH1 was detected
  4. Cpatient reported in this paper