Human pathology

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CDX2

MIM.600297 13q12.3

CDX-2

Cdx2 is a transcriptional regulator important in the early differentiation and maintenance of intestinal epithelium.

CDX2 is a caudal-related homeobox gene encoding a nuclear transcription factor that plays a key role in the development and differentiation of fetal and adult intestinal epithelial cells. Several works have reported that CDX2 is specifically expressed in normal epithelium of small bowel and colorectum and in the great majority of carcinomas arising in these sites.

Pathology

CDX2 is a highly sensitive and specific marker for differentiating colorectal carcinomas from pulmonary tumors and is also helpful for discriminating tumors of different origin along the gastrointestinal tract when used in conjunction with different mucin types.

Aberrant CDX2 expression is commonly seen in intestinal metaplasia occurring in stomach and esophagus.

Different studies reported CDX2 immunostaining also in gastric carcinomas with intestinal-type differentiation, in gastrointestinal carcinoids, in mucinous carcinomas of the ovary and pancreas, and in other intestinal-type adenocarcinomas occurring in different locations.

Pathology

- ETV6-CDX2 fusion gene by t(12;13)(p12;q12-14) in

  • chronic myelogenous leukemia (CML) in transformation
  • myelodysplastic syndrome (MDS)
  • acute myeloid leukemia (9920852)
  • acute non lymphocytic leukemia (ANLL)
  • B-acute lymphocytic leukemias (B-ALL)
  • T-acute lymphocytic leukemias (T-ALL)

- CDX2 is mutated in colorectal cancer.

References

- Guo RJ, Suh ER, Lynch JP. The role of cdx proteins in intestinal development and cancer. Cancer Biol Ther. 2004 Jul;3(7):593-601. PMID: 15136761