J Pathol Transl Med.  2022 Mar;56(2):97-102. 10.4132/jptm.2021.10.28.

Colorectal adenocarcinoma with enteroblastic differentiation: diagnostic challenges of a rare case encountered in clinical practice

• Abada E
• Anaya IC
• Abada O
• Lebbos A
• Beydoun R

• KMID: 2527194
• DOI: http://doi.org/10.4132/jptm.2021.10.28

Abstract

Colorectal adenocarcinoma with enteroblastic differentiation (CAED) is a rare subtype of colonic adenocarcinoma characterized by increased α-fetoprotein (AFP) production and the expression of at least one enteroblastic marker including AFP, glypican 3 (GPC3), or Spalt like transcription factor 4 (SALL4). We report a case of a 26-year-old female who presented with low back pain and constipation which persisted despite supportive measures. Imaging revealed multiple liver lesions and enlarged retroperitoneal nodes. Tumor markers including AFP were markedly elevated. On biopsy, samples from the liver revealed infiltrating glands lined by columnar-type epithelium with mostly eosinophilic granular to focally clear cytoplasm. By immunohistochemistry, the tumor showed immunoreactivity with AFP, hepatocyte antigen, GPC3, SALL4, CDX2, SATB2, and cytokeratin 20. A colonoscopy performed subsequently revealed a mass in the sigmoid colon and biopsy of this mass revealed a similar histology as that seen in the liver. A diagnosis of CAED was made, following the results of gene expression profiling by the tumor with next-generation sequencing which identified pathogenic variants in MUTYH, TP53, and KDM6A genes and therefore supported its colonic origin. Cases such as this underscores the use of ancillary diagnostic techniques in arriving at the correct diagnosis in lesions with overlapping clinicopathologic characteristics.

Keyword

Colorectal neoplasms; Colorectal adenocarcinoma with enteroblastic differentiation; Alpha fetoprotein

Figure

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  Fig. 1 Liver mass biopsy showing infiltrative malignant glands and a focus of necrosis is also seen.

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  Fig. 2 (A) Higher magnification of hepatic mass showing cells with moderate amounts of mostly granular eosinophilic to focally clear cytoplasm (arrows). (B) Higher magnification of hepatic mass showing tumor cells with moderate amounts of mostly granular eosinophilic cytoplasm and inconspicuous nucleoli (arrows).

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  Fig. 3 Immunohistochemical stains show that the tumor cells are immunoreactive for α-fetoprotein (A), Sal-like protein 4 (B), cytokeratin 20 (C), and CDX2 (D).

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  Fig. 4 (A) Biopsy of sigmoid colon mass showing infiltrative malignant glands. (B) Higher magnification of colonic mass showing cells with moderate amounts of mostly granular eosinophilic to focally clear cytoplasm (arrows). (C) Higher magnification of colonic mass showing tumor cells with moderate amounts of mostly granular eosinophilic cytoplasm and a cell with inconspicuous nucleolus (arrow).

Reference

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