PMC7212385_01
Abdominal magnetic resonance imaging. (A) T2 sequences show a small nodular mass (arrow) with a hypointense signal at the level of the major duodenal ampulla, measuring approximately 10.2 mm in its largest axis; (B) Pancreas divisum diagnosis, arrow 1 shows the ventral pancreatic duct, arrow 2 shows the dorsal pancreatic duct, and between those, the arrow 3 shows the common bile duct.
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F1
During further investigation, an abdominal magnetic resonance imaging showed not only a small hypointense nodular mass (T2 sequence) in the periampullary region of the duodenum, but also pancreas divisum (Figures 1A,B). Review of the patient's family history revealed that her mother also had symptoms consistent with NF1 (cafe-au-lait spots and neurofibromas) although no formal clinical evaluation or molecular testing had been performed (Supplementary Figure S1A).
Macroscopy specimens of pylorus-preserving pancreaticoduodenectomy. (A) Pancreas divisum, arrow 1 shows the dorsal duct with a vegetative lesion (17.0 x 2.0 mm) extending to the major ampulla (star); arrow 2 shows the ventral duct and the arrowhead shows a poorly defined densification area near the minor ampulla (5.0 mm); (B) Duodenal wall mass (12.0 mm).
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F2
Macroscopic examination of the PPPD specimen revealed a 17.0 x 2.0 mm ulcerated and infiltrative tumor located in the major ampulla (Figure 2A). In addition, a firm white lesion, 12.0 mm in diameter was detected in the duodenum (Figure 2B).
Histological and immunohistochemical features of the synchronic gastrointestinal tumors by hematoxylin-eosin (H&E) and immunohistochemical (IHC) staining. (A) The poorly-differentiated adenocarcinoma of the major ampulla H&E (B) and CK7 IHC staining. (C) The well-differentiated neuroendocrine tumor of the minor ampulla H&E, (D) and synaptophysin IHC staining. (E) Spindle cells in the gastrointestinal stromal tumor H&E, (F) and DOG1 IHC staining. The histological sections stained are presented at x100 magnification and the right small squares represent x40 magnification.
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F3
Microscopic examination of the major ampulla revealed a poorly differentiated adenocarcinoma (pT2 pN1 R0) infiltrating the duodenal wall with focal necrosis (Figures 3A,B). Another lesion was identified in the minor ampulla corresponding to a well-differentiated NET (pT1 pN0 R0) 5.0 mm in diameter and without lymphovascular invasion (Figures 3C,D). The third synchronic tumor identified in the patient, a fusiform low-grade GIST, with a proliferative index of 2% (pT1 pN0 R0) was identified in the duodenal wall (Figures 3E,F).