First Evidence of Familial Transmission of Hereditary Gastrointestinal Polyposis Associated with Germline APC Variant in Jack Russell Terriers.

Jack Russell terriers (JRTs) with gastrointestinal (GI) neoplastic polyps have been recently reported to harbor an identical germline variant in the adenomatous polyposis coli (APC) gene, c.[462_463delinsTT], in the heterozygous state, which indicates that this disease is an autosomal dominant hereditary disorder. Many individual cases of this disease have been observed in clinical practice; however, familial transmission has not been demonstrated due to the difficulty in tracing the family members of household dogs, especially after the disease's onset in adulthood. Recently, we encountered two cases of GI polyposis in maternal half sisters. These two cases facilitated the identification of additional relatives spanning three generations, including parents, full and half siblings of the dam (aunt and uncle), littermate and non-littermate siblings, and a nephew. Genetic analysis revealed that 11 of the 14 examined JRTs in this family carried the heterozygous germline APC variant, and eight dogs with the variant already had a current and/or past medical history of GI neoplastic polyps. Some cases in the family showed significantly more severe disease phenotypes than those initially reported, suggesting that the severity of this disease can vary considerably among individuals. Moreover, familial aggregation of severe cases suggested that the genetic modifier involved in increasing severity may have been transmitted in this family in addition to the germline APC variant. Furthermore, in addition to this family, we reported two other families of JRTs affected by hereditary GI polyposis that consisted of five full and half siblings and a mother-daughter pair, respectively. These findings unequivocally establish the transgenerational transmission of hereditary GI polyposis associated with the germline APC variant in JRT lineages.

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

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.

Canine idiopathic chylothorax: Anatomic characterization of the pre- and postoperative thoracic duct using computed tomography lymphography.

Surgical treatment has improved the prognosis of canine idiopathic chylothorax, although a recurrence of the disease occurs occasionally after the procedure. An improved understanding of possible causes for this recurrence would be helpful for prognosis and treatment planning in affected patients. In this retrospective case series study, we described the detailed pre- and postoperative computed tomographic lymphography (CTLG) imaging characteristics for a group of dogs with surgically confirmed idiopathic chylothorax. Preoperative CTLG was performed in 12 of 14 dogs diagnosed with idiopathic chylothorax. Thoracic ducts were present on the right side in 10 dogs, left side in one dog, and bilaterally in one dog. All the 14 dogs received a combination therapy of pericardiectomy and thoracic duct ligation (TDL) by video-assisted thoracoscopic surgery. One week after surgery, a postoperative CTLG was performed, and the thoracic ducts were apparent in seven of 14 dogs. Three dogs had an unchanged course of the thoracic duct, which could have resulted from a missed duct. Four dogs were identified as having a bypass formation: the oblique duct originated at the ligation site and connected to the duct on the other side. Our findings indicated that one of the possible causes for postoperative recurrence of chylothorax in dogs could be "invisible or sleeping" fine ducts that are collapsed and not visible in preoperative CTLG scans. After TDL causes a change in the pressure of lymphatic flow, these fine thoracic ducts may become apparent using postoperative CTLG.