Feline osteochondromatosis in a 12-year-old feline leukaemia virus-negative cat.

Feline osteochondromatosis is a spontaneous osteocartilaginous exostosis associated with feline leukaemia virus (FeLV) infection or due to a frameshift variant in the exostosin glycosyltransferase 1 (EXT1) gene. Osteochondromatosis was diagnosed in an indoor-only, 12-year-old, neutered female, Russian Blue cat. Radiographs revealed bilateral calcified proliferations in the elbow, costochondral and sternochondral joints, which distorted the normal skeletal structure. Grossly, the proliferated joints presented with consistent, rounded masses, causing complete ankylosis. The main histopathological finding was an osteocartilaginous proliferation composed of multiple irregular islands of well-differentiated hyaline cartilage surrounded and delimited by osteoid tissue. Immunohistochemistry of the osteochondromas, bone marrow and mediastinal lymph nodes, using a primary anti-FeLV gp70 antibody, and FeLV proviral DNA real-time polymerase chain reaction on bone marrow were negative. Sequencing of exon 6 of the EXT1 gene was performed and nucleotide BLAST analysis demonstrated the absence of a frameshift variant. This study reports the only case of spontaneous feline osteochondromatosis in an animal more than 10 years old.

A frameshift variant in the EXT1 gene in a feline leukemia virus-negative cat with osteochondromatosis.

Osteochondromatosis is a benign proliferative disorder characterized by cartilage-capped bony protuberances. In humans and most mammals, variants in the EXT1 or EXT2 gene are strongly correlated with the etiology of osteochondromatosis. However, in cats, osteochondromatosis has only been associated with feline leukemia virus infection. In this study, to explore other factors involved in the etiology of feline osteochondromatosis, we examined the EXT1 and EXT2 genes in a feline leukemia virus-negative cat with osteochondromatosis. Genetic analysis revealed a heterozygous single base pair duplication in exon 6 of the EXT1 gene (XM_023248762.2:c.1468dupC), leading to a premature stop codon in the EXT1 protein. Notably, this frameshift variant is recognized as one of the most common pathogenic variants in human osteochondromatosis. Our data suggest for the first time that genetic variants can have etiologic roles in osteochondromatosis in cats, as in humans and other animals.

Osteochondromatosis (multiple cartilaginous exostoses) in an immature killer whale Orcinus orca.

An immature killer whale Orcinus orca found dead on the southeastern Brazilian coast had multiple bone proliferations: on the skull, vertebrae, hemal arches, and ribs. The bony formations were characterized as multiple osteochondromas, as defined by osteochondromatosis. The diagnosis was based on macroscopic and radiographic observations. These benign osseocartilaginous tumors affect young individuals and grow until skeletal maturity is achieved. Case reports of this condition, besides humans, include other mammals, with most reports for pets and domestic mammals such as cattle, and a report in a fossil canid (Hesperocyon) from the Oligocene. The etiology, diagnosis, developmental characteristics, and occurrence of osteochondromas are distinct among different species. This report describes the first case of multiple osteochondromas in a wild cetacean.

A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers.

BACKGROUND: We aimed to identify mutations associated with osteochondromatosis in a litter of American Staffordshire Terrier puppies. HYPOTHESIS: We hypothesized that the associated mutation would be located in a gene that causes osteochondromatosis in humans. ANIMALS: A litter of 9 American Staffordshire puppies, their sire and dam, 3 of 4 grandparents, 26 healthy unrelated American Staffordshire Terriers, and 154 dogs of 27 different breeds. METHODS: Whole genome sequencing was performed on the proband, and variants were compared against polymorphisms derived from 154 additional dogs across 27 breeds, as well as single nucleotide polymorphism database 146. One variant was selected for follow-up sequencing. Parentage and genetic mosaicism were evaluated across the litter. RESULTS: We found 56,301 genetic variants unique to the proband. Eleven variants were located in or near the gene exostosin 2 (EXT2), which is strongly associated with osteochondromatosis in humans. One heterozygous variant (c.969C > A) is predicted to result in a stop codon in exon 5 of the gene. Sanger sequencing identified the identical mutation in all affected offspring. The mutation was absent in the unaffected offspring, both parents, all available grandparents, and 26 healthy unrelated American Staffordshire Terriers. CONCLUSIONS AND CLINICAL IMPORTANCE: These findings represent the first reported mutation associated with osteochondromatosis in dogs. Because this mutation arose de novo, the identical mutation is unlikely to be the cause of osteochondromatosis in other dogs. However, de novo mutations in EXT2 are common in humans with osteochondromatosis, and by extension, it is possible that dogs with osteochondromatosis could be identified by sequencing the entire EXT2 gene.

Osteocondromatose em gato: relato de caso / Osteochondromatosis in a cat: case report

A osteocondromatose é caracterizada por nódulos únicos ou múltiplos decorrentes de um crescimento ósseo excessivo benigno. É encontrada em cães, gatos, equinos e humanos. Em felinos, tem maior incidência dos dois aos quatro anos de idade. A etiologia em gatos está relacionada ao vírus da leucemia felina, e também já foi encontrada relação com o fibrossarcoma. A manifestação clínica depende do local acometido e do tamanho da lesão. O diagnóstico definitivo é por meio de histopatologia e o prognóstico é desfavorável, pois ocorrem muitas recidivas. Este relato de caso objetiva descrever a apresentação dessa enfermidade em um felino jovem.(AU)

Osteochondromatosis is characterized by single or multiple nodules resulting from benign excessive bone growth. It is found in cats and dogs, horses and humans. In cats, a higher incidence is found in individuals from 2 to 4 years of age. The etiology in cats is related to the virus of feline leukemia, and is also related to fibrosarcoma. The clinical presentation depends on the area affected and the size of the lesion. The definitive diagnosis is by histopathology and the prognosis is poor because many relapses occur. This case report aims to describe the presentation of the disease in a young cat.(AU)

Feline osteochondromatosis in a FELV-negative European shorthair cat.

OBJECTIVE: To report palliative treatment in a case of multifocal feline osteochondromatosis in a feline leukaemia virus (FeLV) negative European shorthair cat. CASE: A 6-year-old spayed female European shorthair cat was presented because of a right forelimb lameness caused by an osteochondromatous lesion which had trapped tendons, vessels and nerves of the antebrachium. Several other lesions were present which did not cause the animal discomfort. The cat was tested negative for FeLV. Palliative surgical removal of the mass was performed, resulting in a marked improvement of mobility with no local recurrence. The cat developed a non-regenerative anaemia after surgery, however the underlying cause was not identified upon request of the owner. Overall survival after surgery was only 2 months. The cat was then euthanised due to severe progression of the anaemia. CONCLUSION: Palliative surgical removal of osteochondromas may result in local improvement. However, owners need to be aware that it does not increase overall survival and that the prognosis is poor. Infection with FeLV is not necessarily associated with such lesions.

Occurrence of osteochondromatosis (multiple cartilaginous exostoses) in a domestic pig (Sus scrofa domesticus).

Osteochondromatosis is a condition in which multiple benign, cartilage-capped tumors arise from the surface of bones formed by endochondral ossification. The current report describes the presence of 4 prominent exophytic masses, measuring between 4 and 13 cm in diameter, arising from the surface of the ribs, and located within the thoracic cavity, in a 2-year-old female domestic pig (Sus scrofa domesticus). Histological studies revealed that masses were well-differentiated, cartilage-capped proliferations with an orderly pattern of endochondral mineralization toward deeper areas. The observed gross and microscopic findings are characteristic of osteochondromatosis.

Cavernous sinus syndrome due to osteochondromatosis in a cat.

A 1-year-old sexually intact male Korat cat was referred for ophthalmological consultation due to anisocoria. Mydriasis with external ophthalmoplegia and absence of pupillary light responses in the right eye and nasofacial hypalgesia were seen. Cavernous sinus syndrome (CSS) was suspected. Bilateral deformities of the jaw and phalangeal bones, severe spinal pain and abnormal conformation of the lumbar spine were also present. Radiographic examination revealed several mineralised masses in the appendicular and axial skeleton, indicative of multiple cartilaginous exostoses. For further investigation of the CSS-related neurological deficits, the cat underwent computed tomography (CT) examination of the skull. CT images revealed a non-vascularised, calcified, amorphous mass originating from the right lateral skull base and superimposing on the sella turcica. Based on the severity of diffuse lesions and owing to the clinical signs of extreme pain, the cat was euthanased. A diffuse skeletal and intracranial osteochondromatosis was diagnosed histologically.

Osteochondromatosis in a Rhesus macaque (Macaca mulatta).

A 5-y-old, male, rhesus macaque (Macaca mulatta) presented with a prominent mass slightly anteriomedial to the right stifle. On exam, multiple radiopaque masses were identified protruding from the mid- and distal femur. Lateral and anteroposterior radiographs of the right stifle region revealed multiple exophytic masses arising from the femur, with mild bony reaction of the proximal tibia. Histologic examination of biopsy tissue revealed woven and lamellar bone with granulation tissue and skeletal muscle. Because the macaque was exhibiting no lameness or signs of pain, we decided to monitor the progression of the masses. Minimal change was noted during the time prior to study termination at 6.5 y of age. Necropsy revealed that the bony masses were cartilage-capped lesions arising near the growth plate of the distal femur and midshaft of the femur and tibia. Histologic examination revealed chondro-osseous exophytic growths that blended imperceptibly with the cortex and spongiosa of the femur, consistent with a final diagnosis of multiple osteochondromas.

Clinical, radiological and ultrasonographic features, treatment and outcome in 22 horses with caudal distal radial osteochondromata.

REASONS FOR PERFORMING STUDY: Although a well recognised clinical entity, only small numbers of osteochondromata on the caudal distal radius have previously been published and its occurrence in young racing Thoroughbreds has not previously been reported. Identification and management of associated lesions in the deep digital flexor tendon have received scant attention in the literature. HYPOTHESIS: Osteochondromata of the caudal distal radius occur commonly in young racing Thoroughbreds. They vary in size and location, sagittally and proximodistally, but the majority cause impingement damage to the deep digital flexor tendon. METHODS: Case records and diagnostic images of horses with osteochondromata of the caudal distal radius were reviewed retrospectively and follow-up information obtained. RESULTS: Twenty-five osteochondromata were identified in 22 horses, 19 of which were Thoroughbreds. All osteochondromata were metaphyseal. Twenty-two were in the middle one-third of the bone and laceration of the adjacent deep digital flexor tendon was identified in 21 limbs. Treatment in all cases consisted of removal of the osteochondroma with debridement of the deep digital flexor tendon when this was affected. All horses returned to work and none exhibited any evidence of recurrence. CONCLUSION: Osteochondromata of the caudal distal radius occur in young racing Thoroughbreds but are also identified in other horses. They have a consistent metaphyseal location and most are found in the middle one-third of the radius. Size varies, but most cause laceration of the adjacent deep digital flexor tendon. Treatment by removal of the mass and debridement of the tendon is associated with a good prognosis. POTENTIAL RELEVANCE: Osteochondromata of the caudal distal radius are an important cause of tenosynovitis of the carpal sheath of the digital flexor tendons in young racing Thoroughbreds. When present in the most common location of the middle one-third of the bone, they are likely to cause impingement damage to the deep digital flexor tendon. Tenoscopic surgery offers a good prognosis.

Use of latissimus dorsi and abdominal external oblique muscle for reconstruction of a thoracic wall defect in a cat with feline osteochondromatosis.

A 4-year-old, male castrated European shorthair cat was presented with a firm mass palpable on the right caudal rib cage. Lateral and ventrodorsal radiographs of the thorax revealed a 4x3x2cm large, expansile and radiodense mass originating from the distal part of the 13th rib. After removal of the tumour, which was histopathologically confirmed as feline osteochondromatosis, the diaphragm, omentum, external abdominal oblique and latissimus dorsi muscles were used to reconstruct the defect. Feline osteochondromatosis is induced by retroviruses, eg, feline leukaemia virus, for which the cat tested positive. The tumour was removed for palliative reasons, because such tumours have the tendency to transform into osteosarcomas. Six months after the surgical excision the cat showed no clinical signs of reoccurrence.

Linear osteochondromatosis in a cat.

A domestic shorthair cat was presented with quadriparesis and lumbar hyperesthesia that progressed over 4 months. There were linear and amorphous radiopaque masses throughout the soft tissue surrounding the long bones, vertebral bodies, ribs, pelvis, and scapula. The diagnosis of osteochondromatosis was confirmed by histopathology. Unlike previously reported patients with osteochondromatosis, most of the calcified masses in this cat were not connected to the periosteum; some were linear and were arranged parallel to the long bones involved.

A newly recognized pattern of canine osteochondromatosis.

Clinicopathological findings are described for a unique skeletal pattern of osteochondromatosis (syn. multiple osteochondromas) in three crossbred littermate dogs. Multiple nonpainful bilaterally symmetric skeletal lesions arose from focal semiannular and annular areas of periosteal thickening on the cortical surface of the metaphyses and diaphyses of long bones. Flat bones of the skull were spared. In radiographs osteochondromas in different stages of evolution were apparent. Grossly there were smoothly contoured, nodular subperiosteal masses of dense fibrocartilaginous and osseous tissue that were continuous with and overlying apparently normal but thin trabeculae of cancellous bone. Cortical compacta was attenuated or absent beneath exostoses. In histologic sections of the cartilage-capped exostoses a hyperplastic periosteum formed a focal semiannular or annular cap of proliferative hyaline cartilage tissue that underwent endochondral ossification and replacement by cancellous bone at its base. Intertrabecular spaces in the cancellous bone of exostoses were filled with fibro-osseous and hematopoietic tissue. A hereditary origin was suspected for the osteochondromas. Origin of some osteochondromas as semiannular or annular perturbations of the perichondrial ring of metaphyseal physes of long bones likely contributed to limb shortening and a pattern of billaterally symmetric angular limb deformities of all limbs as occurs in some children affected by osteochondromatosis.

Radiographic features of feline joint diseases.

Feline joint disorders are often overlooked, possibly because cats are extremely agile and appear to cope with pathologic changes within their joints better than their canine counterparts. There is a growing awareness that osteoarthritis occurs more frequently than previously anticipated in cats, and recently we have seen the emergence of hip dysplasia as an entity of concern in some purebred cats. There are also several poorly understood conditions that affect the joints of cats, such as synovial osteochondromatosis, that invite further study. In recent years we have seen an expansion in the knowledge of immune-mediated and infectious arthropathies and their inter-relationship with infective agents. This article describes the radiographic changes seen in many of the currently recognized joint disorders of domestic cats.

Osteochondromatosis of the cervical spine causing compressive myelopathy in a dog.

A 10-month-old Alaskan malamute presented with cervical pain and hindlimb proprioceptive deficits. Plain and myelographic radiographic studies of the cervical spine demonstrated extradural compression of the spinal cord at the level of C7 and C5. Computed tomography assisted presurgical characterisation of the lesions as osteochondromatosis. Laminectomy permitted successful removal of the lesions.

A case of multiple osteochondroma in the rat.

The occurrence of spontaneous osteochondroma in rats is extremely rare and only a few cases have been reported. Spontaneous multiple osteochondroma was found in a male SD strain rat, at the age of 58 weeks from the control group in a toxicity study. Histological findings of both a walnut-sized mass involving the humerus and scapula of right forelimb and a soybean-sized mass adjacent to the costochondrial junction of the right posterior rib were similar in appearance. The outer layer of the tumors consisted of hyaline cartilage and the core of the tumors consisted of trabecular bone with abundant fatty bone marrow. The periosteum of the surface was continuous with that of the parent bone, and cortical bone and the medullary cavity of the parent bone communicated with those of the tumors. Because of showing progressive enlargement, multiple osteochondromas in the rat were considered to be neoplastic in nature.