Colorectal adenocarcinoma with enteroblastic differentiation: diagnostic challenges of a rare case encountered in clinical practice
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 (SA...
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| Format: | Article |
| Language: | English |
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Korean Society of Pathologists & the Korean Society for Cytopathology
2022-03-01
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| Series: | Journal of Pathology and Translational Medicine |
| Subjects: | |
| Online Access: | http://www.jpatholtm.org/upload/pdf/jptm-2021-10-28.pdf |
| _version_ | 1818290201266487296 |
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| author | Evi Abada Ifeoma C. Anaya Othuke Abada Anthony Lebbos Rafic Beydoun |
| author_facet | Evi Abada Ifeoma C. Anaya Othuke Abada Anthony Lebbos Rafic Beydoun |
| author_sort | Evi Abada |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-13T02:24:24Z |
| format | Article |
| id | doaj.art-b1ddac75e62d473cb1dc24b00038d196 |
| institution | Directory Open Access Journal |
| issn | 2383-7837 2383-7845 |
| language | English |
| last_indexed | 2024-12-13T02:24:24Z |
| publishDate | 2022-03-01 |
| publisher | Korean Society of Pathologists & the Korean Society for Cytopathology |
| record_format | Article |
| series | Journal of Pathology and Translational Medicine |
| spelling | doaj.art-b1ddac75e62d473cb1dc24b00038d1962022-12-22T00:02:41ZengKorean Society of Pathologists & the Korean Society for CytopathologyJournal of Pathology and Translational Medicine2383-78372383-78452022-03-015629710210.4132/jptm.2021.10.2817010Colorectal adenocarcinoma with enteroblastic differentiation: diagnostic challenges of a rare case encountered in clinical practiceEvi AbadaIfeoma C. AnayaOthuke AbadaAnthony LebbosRafic BeydounColorectal 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.http://www.jpatholtm.org/upload/pdf/jptm-2021-10-28.pdfcolorectal neoplasmscolorectal adenocarcinoma with enteroblastic differentiationalpha fetoprotein |
| spellingShingle | Evi Abada Ifeoma C. Anaya Othuke Abada Anthony Lebbos Rafic Beydoun Colorectal adenocarcinoma with enteroblastic differentiation: diagnostic challenges of a rare case encountered in clinical practice Journal of Pathology and Translational Medicine colorectal neoplasms colorectal adenocarcinoma with enteroblastic differentiation alpha fetoprotein |
| title | Colorectal adenocarcinoma with enteroblastic differentiation: diagnostic challenges of a rare case encountered in clinical practice |
| title_full | Colorectal adenocarcinoma with enteroblastic differentiation: diagnostic challenges of a rare case encountered in clinical practice |
| title_fullStr | Colorectal adenocarcinoma with enteroblastic differentiation: diagnostic challenges of a rare case encountered in clinical practice |
| title_full_unstemmed | Colorectal adenocarcinoma with enteroblastic differentiation: diagnostic challenges of a rare case encountered in clinical practice |
| title_short | Colorectal adenocarcinoma with enteroblastic differentiation: diagnostic challenges of a rare case encountered in clinical practice |
| title_sort | colorectal adenocarcinoma with enteroblastic differentiation diagnostic challenges of a rare case encountered in clinical practice |
| topic | colorectal neoplasms colorectal adenocarcinoma with enteroblastic differentiation alpha fetoprotein |
| url | http://www.jpatholtm.org/upload/pdf/jptm-2021-10-28.pdf |
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