PMC5498202_01
(a) 99m technetium-sestamibi (99mTc-MIBI) scintigraphy demonstrating significant uptake in the right superior parathyroid gland and an anterior mediastinal tumor (shown with an arrow). (b) Cervicothoracic computed tomography (CT) and (c) T2-weighted magnetic resonance imaging (MRI) demonstrating a well-circumscribed tumor in the anterior mediastinum (shown with an arrow).
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Tokyo, Japan). 99 m technetium-sestamibi (99mTc-MIBI) scintigraphy revealed significant uptake in the anterior mediastinal tumor and right superior parathyroid gland (Fig. 1a). Cervicothoracic computed tomography (CT) demonstrated a well-circumscribed anterior mediastinal mass 13 mm in diameter (Fig. 1b). This lesion was isointense on T1- and T2-weighted magnetic resonance imaging (MRI; Fig. 1c).
Direct sequence analysis of the ME N1 gene. The sequencing analysis demonstrated a novel deletion mutation at codon 467 in exon 10.
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Exons 2 through 10 of the MEN1 gene were amplified by a polymerase chain reaction using genomic DNA extracted from leukocytes after obtaining written informed consent from the patient, revealing the same deletion mutation (c.1400delC) in the MEN1 gene as observed in the patient's mother (Fig. 2).
(a) Abdominal dynamic CT demonstrating a gradually ring-enhancing tumor in the distal region of the pancreas. (b) T2-weighted MRI demonstrating a low-signal-intensity pancreatic tumor (shown with an arrow) and enlarged adrenal glands (shown with arrow heads). (c) 18F-fluorodeoxyglucose positron emission tomography/CT (FDG-PET/CT) demonstrating a significant tumoral uptake. (d) 68Ga-labeled 1,4,7,10-tetraazacyclododecane-N, N', N", N"-tetraacetic acid-d-Phe1-Tyr3-octreotide PET/CT (DOTATOC-PET/CT) demonstrating significant uptake by the tumor in the pancreatic distal region and a separate tumor in the pancreatic body (shown with an arrow head).
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In addition, abdominal dynamic CT revealed a ring-enhancing tumor in the distal region of the pancreas (Fig. 3a). The tumor showed a low signal intensity on T2-weighted MRI (Fig. 3b) and a high signal intensity on diffusion-weighted imaging, as well as a significant uptake on FDG-PET/CT (standardized uptake value [SUV]max = 3.21; Fig. 3c). DOTATOC-PET/CT similarly showed significant uptake in this tumor in the distal region of the pancreas (SUVmax =21.5) and a separate tumor in the body of the pancreas (SUVmax =24.6; Fig. 3d).
Pathological examinations confirmed the tumors in the pancreatic head and distal region as glucagonomas. Tumor in the pancreatic head: (a) macroscopic findings (arrow), (b) Hematoxylin and Eosin (H&E) staining, (c) positive chromogranin A staining on an immunohistochemical analysis, (d) diffusely positive glucagon staining on an immunohistochemical analysis, and (e) absence of gastrin staining on an immunohistochemical analysis. Tumor in the pancreatic body: (f) H&E staining, (g) punctate expression of glucagon on an immunohistochemical analysis, and (h) absence of gastrin staining on an immunohistochemical analysis. A pathological examination confirmed the presence of a gastrinoma in a peripancreatic lymph node. (i) H&E staining, (j) absence of glucagon staining on an immunohistochemical analysis, and (k) diffusely positive gastrin staining on an immunohistochemical analysis.
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A tumor 5 mm diameter was also observed in the pancreatic head in addition to the tumors detected preoperatively (Fig. 4a). Concerning the tumor in the pancreatic head (Fig. 4b), immunochemical studies demonstrated positive staining for chromogranin A (Fig. 4c) and diffuse positive staining for glucagon (Fig. 4d). Concerning the tumors in the body and distal pancreas (Fig. 4f), the microscopic findings were consistent with neuroendocrine tumors, and immunochemical studies demonstrated spotty positive staining for glucagon (Fig. 4 g). While the immunochemical studies showed that none of the pancreatic tumors expressed gastrin (Fig. 4e and h), a neuroendocrine tumor observed in the peripancreatic lymph node (Fig. 4i) was found to be positive for gastrin in an immunohistochemical analysis (Fig. 4j and k).