Three female familial cases of solid pseudopapillary tumors with a protease serine 1 gene mutation.
Solid pseudopapillary tumors (SPTs) are a rare pancreatic neoplastic lesion. Familial aggregation has not been reported in this disease. The objectives of this study were to report the history, clinicopathological features, and gene mutations of 3 familial cases of SPT. Three female cases of SPT presented in 1 family. Eight family relatives, 5 healthy volunteers, and 8 patients with SPT acted as controls. Histological examination and immunohistochemistry were performed on the surgical tumor specimens. Polymerase chain reaction-single-strand conformation polymorphism and gene sequencing were performed on genomic DNA extracted from blood. All 3 patients underwent surgical treatment, 2 patients died (3 months and 5 months after surgery), whereas neither recurrence nor metastasis was observed in the other patient during 2-year follow-up. The tumors from the 3 cases had identical immunoreactivity to a series of molecular markers. A Leu104Val mutation of protease serine 1 (PRSS1) was observed in the familial patients and 2 healthy male family members; no β-catenin or adenomatous polyposis coli mutations were detected in the familial cases. This study indicates the possibility of genetic involvement in the pathogenesis of SPT. Family history may be a positive predictive factor for malignancy in SPT.
Pancreatic Disease Institute, Department of General Surgery, Union Hospital, HUST, Wuhan, Hubei, China.
Shanmiao
S
Gou
Jun
J
Yu
Chunyou
C
Wang
Tao
T
Liu
Pengfei
P
Cui
Xiangsheng
X
Li
D004252:DNA Mutational Analysis / Q000379:methods; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010190:Pancreatic Neoplasms / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000601:surgery*; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D013997:Time Factors; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014357:Trypsin / Q000235:genetics*; D055815:Young Adult
C489303:PRSS1 protein, human; D014357:Trypsin