Mycobacterium genavense granulomatous typhlocolitis in a horse.

A 23-y-old gelding was presented to a veterinary teaching hospital with a history of chronic, refractory diarrhea. Clinically, the horse was in poor body condition, with a thickened and corrugated large intestine identified by transcutaneous abdominal ultrasonography. At postmortem examination following euthanasia, the large colon and cecum had segmental thickening of the intestinal wall with innumerable mucosal ulcers and prominent polypoid mucosal masses. Many mesenteric and hepatic lymph nodes were enlarged. Histology revealed granulomatous and ulcerative typhlocolitis and granulomatous lymphadenitis with myriad acid-fast, variably gram-positive, intrahistiocytic bacilli that stained by immunohistochemistry for mycobacteria. Molecular testing by PCR and sequencing identified the causative agent as Mycobacterium genavense, which is an unusual presentation of infection in a horse.

Clinical description with magnetic resonance appearance of a high-grade undefined optic nerve glioma with intracranial extension.

A 4-year-old mixed-breed dog was presented for hyphema and glaucoma of the right eye. Enucleation of the right globe was carried out, and histopathology examination revealed an optic nerve glioma with incomplete surgical margins. At 8 wk after surgery, the dog had depressed mentation and a diminished pupillary light reflex of the left eye. Magnetic resonance imaging revealed an irregular, heterogeneously T2 hyperintense/T1 isointense mass in the region of the optic chiasm. Compression of the rostral thalamus was present, with effacement of the pituitary gland and involvement of the right orbit. The dog was euthanized 4.5 mo after initial presentation. An undefined glioma of the right optic nerve with extension to the diencephalon was diagnosed on necropsy. Key clinical message: Although rare, intraocular glioma is a differential diagnosis for hyphema, glaucoma, and retinal detachment. Magnetic resonance imaging should be considered in cases of intraocular neoplasia, notably in those with incomplete surgical margins of the optic nerve.

Description clinique avec aspect en résonance magnétique d'un gliome indéfini de haut grade du nerf optique avec extension intracrânienne. Un chien de race croisé âgé de 4 ans a été présenté pour un hyphéma et un glaucome de l'œil droit. Une énucléation du globe droit a été réalisée et l'examen histopathologique a révélé un gliome du nerf optique aux marges chirurgicales incomplètes. Huit semaines après la chirurgie, le chien avait une diminution du processus mental et un réflexe pupillaire à la lumière diminué de l'œil gauche. L'imagerie par résonance magnétique a révélé une masse irrégulière hétérogène hyperintense T2/T1 isointense dans la région du chiasma optique. Une compression du thalamus rostral était présente, avec effacement de l'hypophyse et atteinte de l'orbite droite. Le chien a été euthanasié 4,5 mois après la présentation initiale. Un gliome indéfini du nerf optique droit avec extension au diencéphale a été diagnostiqué à l'autopsie.Message clinique clé:Bien que rare, le gliome intraoculaire est un diagnostic différentiel pour l'hyphéma, le glaucome et le décollement de la rétine. L'imagerie par résonance magnétique doit être envisagée en cas de néoplasie intraoculaire, notamment chez ceux dont les marges chirurgicales du nerf optique sont incomplètes.(Traduit par Dr Serge Messier).

Identification of a Hypomorphic FANCG Variant in Bernese Mountain Dogs.

Bernese mountain dogs (BMDs), have an overall cancer incidence of 50%, half of which is comprised of an otherwise rare tumor, histiocytic sarcoma (HS). While recent studies have identified driver mutations in the MAPK pathway, identification of key predisposing genes has been elusive. Studies have identified several loci to be associated with predisposition to HS in BMDs, including near the MTAP/CDKN2A region, but no causative coding variant has been identified. Here we report the presence of a coding polymorphism in the gene encoding FANCG, near the MTAP/CDKN2A locus. This variant is in a conserved region of the protein and appears to be specific to BMDs. Canine fibroblasts derived from dogs homozygous for this variant are hypersensitive to cisplatin. We show this canine FANCG variant and a previously defined hypomorphic FANCG allele in humans impart similar defects in DNA repair. However, our data also indicate that this variant is neither necessary nor sufficient for the development of HS. Furthermore, BMDs homozygous for this FANCG allele display none of the characteristic phenotypes associated with Fanconi anemia (FA) such as anemia, short stature, infertility, or an earlier age of onset for HS. This is similar to findings in FA deficient mice, which do not develop overt FA without secondary genetic mutations that exacerbate the FA deficit. In sum, our data suggest that dogs with deficits in the FA pathway are, like mice, innately resistant to the development of FA.