Clinical and Pathological Diagnosis of Hereditary Gastrointestinal Polyposis in Jack Russell Terriers

SIMPLE SUMMARY: In dogs, hundreds of hereditary diseases are currently known, representing a major health problem in small animal clinical practice. Hereditary gastrointestinal (GI) polyposis in Jack Russell Terriers (JRTs) is a hereditary disease recently discovered in Japan. This is an autosomal dominant disease caused by a germline variant in the adenomatous polyposis coli (APC) gene. Dogs with hereditary GI polyposis develop solitary and multiple tumors predominantly in the stomach and/or colorectum but have a much better prognosis than sporadic cases of GI tumors. Since the discovery of this disease, the number of newly diagnosed cases in Japan has increased, allowing the update of the disease’s clinical and pathological features. In the present study, some patients exhibited more severe condition than previously reported, including cases harboring tumors in the small intestine besides the stomach and colorectum. In addition, the rare cases died from systemic metastasis of GI tumors. Our study would facilitate the accurate diagnosis of hereditary GI polyposis in JRTs and raise global awareness of this novel hereditary disease. ABSTRACT: Hereditary GI polyposis in JRTs is a novel hereditary disease characterized by the development of solitary and multiple polypoid tumors, predominantly in the stomach and/or colorectum. Our recent study indicated that JRTs with GI neoplastic polyps harbor an identical germline variant in the APC gene, c.[462_463delinsTT], in a heterozygous state. Unlike sporadic cases, dogs afflicted with hereditary GI polyposis can be expected to have a prolonged survival time, as hereditary tumors are noninvasive. Since the discovery of this disease, the number of newly diagnosed cases in Japan has increased, allowing us to update the clinical and pathological features and provide a large number of diagnostic images. The present clinical case series study employing various diagnostic imaging techniques revealed that some of the cases harbored tumors in the small intestine in addition to the stomach and colorectum. Moreover, although rare, hereditary GI cancers can progress to the advanced stage and develop systemic metastasis, similar to sporadic GI tumors. These findings indicate that there is a wider range of variation in disease severity than was initially recognized. Our results can contribute to the accurate diagnosis of hereditary GI polyposis in clinical practice, pathological examinations, and future research.