Spatial and temporal evolution of distal 10q deletion, a prognostically unfavorable event in diffuse low-grade gliomas.

BACKGROUND: The disease course of patients with diffuse low-grade glioma is notoriously unpredictable. Temporal and spatially distinct samples may provide insight into the evolution of clinically relevant copy number aberrations (CNAs). The purpose of this study is to identify CNAs that are indicative of aggressive tumor behavior and can thereby complement the prognostically favorable 1p/19q co-deletion. RESULTS: Genome-wide, 50 base pair single-end sequencing was performed to detect CNAs in a clinically well-characterized cohort of 98 formalin-fixed paraffin-embedded low-grade gliomas. CNAs are correlated with overall survival as an endpoint. Seventy-five additional samples from spatially distinct regions and paired recurrent tumors of the discovery cohort were analyzed to interrogate the intratumoral heterogeneity and spatial evolution. Loss of 10q25.2-qter is a frequent subclonal event and significantly correlates with an unfavorable prognosis. A significant correlation is furthermore observed in a validation set of 126 and confirmation set of 184 patients. Loss of 10q25.2-qter arises in a longitudinal manner in paired recurrent tumor specimens, whereas the prognostically favorable 1p/19q co-deletion is the only CNA that is stable across spatial regions and recurrent tumors. CONCLUSIONS: CNAs in low-grade gliomas display extensive intratumoral heterogeneity. Distal loss of 10q is a late onset event and a marker for reduced overall survival in low-grade glioma patients. Intratumoral heterogeneity and higher frequencies of distal 10q loss in recurrences suggest this event is involved in outgrowth to the recurrent tumor.

[Elastofibroma dorsi: a characteristic, benign, subscapular swelling]. / Elastofibroma dorsi: een karakteristieke, benigne, subscapulaire zwelling.

Two female patients, 63 and 67 years old, visited the outpatient department with a growing soft tissue swelling bilaterally in the subscapular region. Using CT imaging and core needle biopsy, the first patient was diagnosed with an 'elastofibroma dorsi'. Because of the benign character of this lesion an expectative policy was followed. In the second patient the swelling was resected unilaterally without preoperative clinical and radiological confirmation of the diagnosis. Pathological examination revealed the typical characteristics of an elastofibroma. As there were no symptoms, the contralateral lesion was not excised. Elastofibromas are benign, soft tissue tumours, for which resection is only indicated if they are symptomatic. To prevent unnecessary anxiety, medical investigations and interventions, on encountering subscapular soft tissue tumours, elastofibroma dorsi should be considered.