Rare SMARCB1/INI1-deficient undifferentiated carcinoma of the colon

This colorectal cancer diagnosis at a glance

Biomarkers
SMARCB1/INI1 loss, KRAS G12D, BRAF wild-type, NRAS wild-type, proficient mismatch repair
Sex
Male
Treatment
surgery

Treatment course, step by step

  1. Underwent right hemicolectomy for an obstructing ascending-colon mass.

What happened, in summary

A 70-year-old man developed sudden generalized abdominal pain and was evaluated for possible bowel obstruction. CT imaging showed circumferential thickening in the distal right colon, and he underwent a right hemicolectomy.

Pathology found a large ascending-colon tumor extending through the bowel wall into the surrounding fat. The cancer had an unusual undifferentiated appearance with rhabdoid features. Extensive testing ruled out several alternative tumor types and demonstrated loss of SMARCB1/INI1 expression, supporting a diagnosis of SMARCB1/INI1-deficient undifferentiated colonic carcinoma. No cancer was found in the 22 lymph nodes examined.

Molecular testing showed a KRAS G12D mutation, while BRAF and NRAS were wild-type. Mismatch-repair proteins were retained.

Where this story comes from

This is a lay summary of an account first published by PMC / PubMed Central. Read the original in full

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