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Presented by Peter Illei, M.D. and prepared by Robert E. LeBlanc, M.D.
Case 1: 39 year old white female patient with a history of Crohn’s disease.
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1. Question
Week 523: Case 1
39 year old white female patient with a history of Crohn’s disease and status post ileocolectomy and subsequent segmental small bowel resection including prior anastomosis site. Follow up CT scan revealed a 4 cm anterior mediastinal mass. The patient had no evidence of malignancy in the bowel resections.images/S12-33393aaaaa.jpg
images/S12-33393 Tumor 2Xb copy.jpg
images/S12-33393 Tumor 10Xb copy.jpg
images/S12-33393 Tumor 10Xc copy.jpg
images/S12-33393 Tumor 40Xb copy.jpgCorrect
Answer: Mucinous adenocarcinoma
Histology: Sections show a mucinous adenocarcinoma with signet ring cell features infiltrating dense fibrous tissue that is surrounded by cystic thymic tissue also involved by the tumor. Metastatic tumor was seen in two mediastinal lymph nodes. Radiographically and clinically no other primary tumor was detected. Immunostains demonstrated that the tumor cells are positive for CK20 and CDX2, focally positive for synaptophysin, chromogranin, Beta-catenin (nuclear) and SALL-4 (germ cell tumor marker), while negative for CK7, ER, PR, TTF-1, GATA3, p63, CD5, C-Kit, AFP, PAX-8 and Napsin-A.
Discussion: This staining pattern is consistent with an intestinal type differentiation and raises the possibility of a germ cell tumor, however, a metastasis cannot be ruled out based on these findings. Molecular studies were performed and were negative for k-ras, b-raf, EGFR mutations as was an immunostain and FISH analysis for Her2/neu.
Incorrect
Answer: Mucinous adenocarcinoma
Histology: Sections show a mucinous adenocarcinoma with signet ring cell features infiltrating dense fibrous tissue that is surrounded by cystic thymic tissue also involved by the tumor. Metastatic tumor was seen in two mediastinal lymph nodes. Radiographically and clinically no other primary tumor was detected. Immunostains demonstrated that the tumor cells are positive for CK20 and CDX2, focally positive for synaptophysin, chromogranin, Beta-catenin (nuclear) and SALL-4 (germ cell tumor marker), while negative for CK7, ER, PR, TTF-1, GATA3, p63, CD5, C-Kit, AFP, PAX-8 and Napsin-A.
Discussion: This staining pattern is consistent with an intestinal type differentiation and raises the possibility of a germ cell tumor, however, a metastasis cannot be ruled out based on these findings. Molecular studies were performed and were negative for k-ras, b-raf, EGFR mutations as was an immunostain and FISH analysis for Her2/neu.
