Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous mutations in IDH1 (c.394C>T encoding an R132C substitution and c.395G>A encoding an R132H substitution) or IDH2 (c.516G>C encoding R172S) in 87% of enchondromas (benign cartilage tumors) and in 70% of spindle cell hemangiomas (benign vascular lesions). In total, 35 of 43 (81%) subjects with Ollier disease and 10 of 13 (77%) with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of 16 subjects had identical mutations in separate lesions. Immunohistochemistry to detect mutant IDH1 R132H protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors were associated with hypermethylation and downregulated expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, which will enable functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation

Guarded long-term prognosis in male cats with urethral obstruction

The aim of this study was to evaluate the course of urethral obstruction in cats. Forty-five male cats with urethral obstruction or lower urinary tract signs referable to urethral obstruction were included in the study. Follow-up information was gained by telephone interview in most cases and was available in 39 cats. Of the 22 cats with idiopathic urethral obstruction, eight (36%) re-obstructed after 3-728 days (median 17 days). Of 10 cats with urolithiasis, three (30%) re-obstructed after 10, 13 and 472 days, respectively. Of the seven cats with urethral plugs, three (43%) re-obstructed after 4, 34 and 211 days, respectively. Recurrent signs of lower urinary tract disease including obstruction were common in cats with urethral obstruction (20/39; 51%) and occurred in the same frequency irrespective of the primary cause of the obstruction. Recurrent obstruction (14/39; 36%) was the most common reason for euthanasia and was performed in 8/39 (21%) cats

R132C IDH1 Mutations Are Found in Spindle Cell Hemangiomas and Not in Other Vascular Tumors or Malformations

MTG

R132C IDH1 Mutations Are Found in Spindle Cell Hemangiomas and Not in Other Vascular Tumors or Malformations

Molecular tumour pathology - and tumour genetic

R132C IDH1 Mutations Are Found in Spindle Cell Hemangiomas and Not in Other Vascular Tumors or Malformations

Molecular tumour pathology - and tumour genetic