Albinism is a clinically and genetically heterogeneous disease characterized by variable degrees of hypopigmentation and by nystagmus, foveal hypoplasia, and chiasmatic misrouting of the optic nerves. The wide phenotypic heterogeneity impedes the establishment of phenotype-genotype correlations. To obtain a precise diagnosis, we screened the 19 known albinism genes in 990 index patients using targeted next-generation sequencing (NGS) and high-resolution comparative genomic hybridization. A molecular diagnosis was obtained in 72.32% of patients. A total of 243 new pathogenic variants were identified. Intragenic rearrangements represented 10.8% of all pathogenic alleles. NGS panel analysis allowed establishing a diagnosis for the rarest forms of the disease, which could not be diagnosed otherwise. Because of the clinical overlap between the different forms of the disease, diagnosis nowadays clearly relies on molecular grounds.

Purpose To compare the results for patients treated with intercalary endoprosthetic replacement (EPR) or intercalary allograft reconstruction for diaphyseal tumours of the femur in terms of: (1) reconstruction failure rates; (2) cause of failure; (3) risk of amputation of the limb; and (4) functional result. Methods Patients with bone sarcomas of the femoral diaphysis, treated with en bloc resection and reconstructed with an intercalary EPR or allograft, were reviewed. A total of 107 patients were included in the study (36 EPR and 71 intercalary allograft reconstruction). No differences were found between the two groups in terms of follow-up, age, gender and the use of adjuvant chemotherapy. Results The probability of failure for intercalary EPR was 36% at 5 years and 22% for allograft at 5 years (p = 0.26). Mechanical failures were the most prevalent in both types of reconstruction. Aseptic loosening and implant fracture are the main cause in the EPR group. For intercalary allograft reconstructions, fracture followed by nonunion was the most common complication. Ten-year risk of amputation after failure for both reconstructions was 3%. There were no differences between the groups in terms of the mean Musculoskeletal Tumor Society score (27.4, range 16-30 vs. 27.6, range 17-30). Conclusions We have demonstrated similar failure rates for both reconstructions. In both techniques, mechanical failure was the most common complication with a low rate of limb amputation and good functional results. Level of evidence Level III, therapeutic study.

We found no evidence of progression from OFD to adamantinoma. Conservative management with observation or curettage is often successful for patients with OFD and OFD-like adamantinoma. Resection with clear margins is required for patients with adamantinoma. Late tumour recurrence is not uncommon in adamantinoma and prolonged follow-up should be considered. Cite this article: 2017;99-B:409-16.

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