PMC9815500_01
(Family pedigree). A: Bowel cancer at 54 years, not tested for lynch syndrome (LS) gene. B: Rectal cancer at 33 years, uterine cancer at 50 years, pancreatic cancer at 78 years, not tested. B1: hMSH2, colon cancer at 34 years. B2: MLH, PMS2, endometrial cancer and intraductal pancreatic neoplasia at 62 years. B3: LS gene negative. B4: LS gene negative. C: Renal cancer in 30s, not tested. C1: Bowel and kidney cancer at 30 years, LS gene positive. D: Bowel and liver cancer at 75 years. D1: LS gene negative. D2: LS gene negative. D3: LS gene negative. E: MSH2, Colon cancer at 32 years (Index patient). F: MSH2.
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He was also known to have MSH2 mutation following genetic testing due to a strong family history of LS as depicted in the pedigree ( Figure 1 ).
Gross specimen showing multiple foci of adenocarcinoma on background of tubulovillous adenoma with dysplasia in rectum.
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However, intraoperative findings of left pelvic wall abscess with grossly thickened sigmoid colon mass coupled with extensive disease of rectum down to anorectal junction ( Figure 2 ) necessitated an open completion proctocolectomy with terminal ileostomy.
PET scan showing pelvic cystic lesion.
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Further imaging computer tomography (CT) scan then Positron emission Tomography (PET) Scan ( Figure 3 ) revealed a pelvic cystic lesion, which was inconclusive on the PET scan.