case_images: PMC10769503_01
case_images: LFS case family pedigree.
case_images: cro-2024-0017-0001-535099_F01.jpg
case_images: PMC10769503_01_cro-2024-0017-0001-535099_F01.jpg
case_images: F1
case_images: It is assumed the patient's sister and father had LFS, although there was no formal diagnosis (see Fig. 1).
case_images: Photomicrograph of gastric mass biopsy, invasive poorly differentiated adenocarcinoma (Hematoxylin & Eosin, H&E, x100).
case_images: cro-2024-0017-0001-535099_F02.jpg
case_images: PMC10769503_01_cro-2024-0017-0001-535099_F02.jpg
case_images: F2
case_images: P40 negative, p53 overexpressed, MMR deficient with loss of nuclear expression of MLH1 and PMS2 via immunohistochemistry (see Fig. 2, 3a-e), MLH promoter hypermethylated, estimated CPS = 5 and HER 2 neu negative. Pathology of the pancreatic head lesion showed a well-differentiated neuroendocrine tumor, positive for synaptophysin, chromogranin, pancytokeratin, Ki 67 < 1% without necrosis or mitotic activity (see Fig. 4a-d).
case_images: a Photomicrograph of gastric mass, immunohistochemical (IHC) testing for mismatch repair (MMR) proteins. MLH1 showing loss of nuclear expression in adenocarcinoma (IHC, x40). b Photomicrograph of gastric mass, immunohistochemical testing for mismatch repair (MMR) proteins. PMS2 showing loss of nuclear expression in adenocarcinoma (IHC, x40). c Photomicrograph of gastric mass, immunohistochemical testing for mismatch repair (MMR) proteins. MSH2 with intact nuclear expression (IHC, x40). d Photomicrograph of gastric mass, immunohistochemical testing for mismatch repair (MMR) proteins. MSH6 with intact nuclear expression (IHC,x40). e Photomicrograph of gastric mass, immunohistochemical staining for p53 (IHC, x40).
case_images: cro-2024-0017-0001-535099_F03.jpg
case_images: PMC10769503_01_cro-2024-0017-0001-535099_F03.jpg
case_images: F3
case_images: P40 negative, p53 overexpressed, MMR deficient with loss of nuclear expression of MLH1 and PMS2 via immunohistochemistry (see Fig. 2, 3a-e), MLH promoter hypermethylated, estimated CPS = 5 and HER 2 neu negative. Pathology of the pancreatic head lesion showed a well-differentiated neuroendocrine tumor, positive for synaptophysin, chromogranin, pancytokeratin, Ki 67 < 1% without necrosis or mitotic activity (see Fig. 4a-d).
case_images: a Photomicrograph of pancreatic lesion biopsy, well-differentiated neuroendocrine tumor (H&E, x100). b Photomicrograph of pancreatic lesion biopsy, immunohistochemical staining for synaptophysin (IHC, x100). c Photomicrograph of pancreatic lesion biopsy, immunohistochemical staining for Chromogranin (IHC, x100). d Photomicrograph of pancreatic lesion biopsy, immunohistochemical staining for KI67 (IHC, x100).
case_images: cro-2024-0017-0001-535099_F04.jpg
case_images: PMC10769503_01_cro-2024-0017-0001-535099_F04.jpg
case_images: F4
case_images: P40 negative, p53 overexpressed, MMR deficient with loss of nuclear expression of MLH1 and PMS2 via immunohistochemistry (see Fig. 2, 3a-e), MLH promoter hypermethylated, estimated CPS = 5 and HER 2 neu negative. Pathology of the pancreatic head lesion showed a well-differentiated neuroendocrine tumor, positive for synaptophysin, chromogranin, pancytokeratin, Ki 67 < 1% without necrosis or mitotic activity (see Fig. 4a-d).
case_images: NM PET scan showed hypermetabolic mass involving gastric cardia, fundus, and lesser curvature. Hypermetabolic pancreatic head mass with central necrosis hypermetabolic celiac, gastrohepatic, para-aortic lymph nodes, and peritoneal metastases. Foci of FDG avid lesions in the liver highly suspicious for hypermetabolic metastasis.
case_images: cro-2024-0017-0001-535099_F05.jpg
case_images: PMC10769503_01_cro-2024-0017-0001-535099_F05.jpg
case_images: F5
case_images: Foci of FDG avid lesions in the liver highly suspicious for hypermetabolic metastasis (see Fig. 5).