Translation and preliminary validation of the English version of the DUX questionnaire for lower extremity bone tumor patients (Bt-DUX): a disease-specific measure for quality of life.

PURPOSE: To translate the Dutch DUX questionnaire for lower extremity bone tumor patients (Bt-DUX), a disease-specific quality of life (QoL) instrument, into the English (UK) language and preliminary validate the English version in patients who were treated for lower-extremity bone tumors. METHODS: Adaptation and translation process included forward translation, back-translation, and a review of the back-translation by an expert committee. Internal consistency and validity of the translated questionnaire were examined in a sample of adolescents treated for lower extremity osteosarcoma in the United Kingdom. Assessments included the Bt-DUX, the Toronto Extremity Salvage Score (TESS), the Short Form (SF)-36, and the TNO-AZL Questionnaire for Adult's Quality of Life (TAAQOL). RESULTS: Seventeen patients (7 ♂ and 10 ♀), median age 19.9 (range: 16-25) years completed the questionnaires. Mean Bt-DUX score was 38.8 (range: 23-78), with Cronbach's α being 0.95 domain-total correlations ranged between 0.84 and 0.93 (P < 0.01). Spearman's correlation coefficients between the Bt-DUX total and domain scores and corresponding TAAQOL and SF-36 scores were overall moderate to good and reaching statistical significance in a most cases. CONCLUSION: Preliminary evidence suggests that the English Bt-DUX translation is a valid disease-specific instrument for evaluating QoL of adolescents with lower extremity bone cancer.

Detection of ASPL/TFE3 fusion transcripts and the TFE3 antigen in formalin-fixed, paraffin-embedded tissue in a series of 18 cases of alveolar soft part sarcoma: useful diagnostic tools in cases with unusual histological features.

Alveolar soft part sarcoma (ASPS) is a rare malignancy; diagnostic problems may occur when cases present as a metastasis or with unusual morphologic features. In this study, a series of 18 cases with follow-up information were analysed with regard to the ASPL/TFE3 fusion transcripts and immuno-detection of TFE3 using archival formalin-fixed, paraffin-embedded tissues. Novel primers to detect ASPL/TFE3 fusion transcripts, type 1 and 2, were designed. The patients, ten female and eight male, ranged in age from 3 to 46 years; 16 involved soft tissues of the extremities (nine, lower; seven, upper), one involved the uterine cervix and one was a primary bone tumour of the foot. Seven ASPS had unusual morphologic features lacking the typical alveolar pattern. Seven had lung metastases at the time of diagnosis, and three developed lung and brain metastases later. Four patients died of disease (after 1-5 years); four are alive with metastases (after 2-15 years), and ten are alive and well (after 1-10 years). Vascular invasion correlated with metastatic disease. All 18 ASPS, four granular cell tumours (one of which was malignant) and one adrenal cortical carcinoma showed TFE3 immuno-positivity. The 18/18 ASPS showed ASPL/TFE3 fusion transcripts (nine, type 1; nine, type 2), four of which had a balanced translocation. ASPL/TFE3 fusion transcripts were not detected in 25 controls. We conclude that immuno-detection of TFE3 and RT-PCR-based identification of ASPL/TFE3 fusion transcripts in formalin-fixed, paraffin-embedded tissues are powerful tools in the diagnosis of ASPS, particularly in cases with unusual morphologic features.

Extensible endoprostheses for bone tumors of the proximal femur in children.

Between 1983 and 1996, nine children were treated with extensible endoprosthetic replacements of the proximal femur after resection of primary bone tumors. Four patients died of their disease. The remaining five patients were observed for an average follow-up period of 7.6 years. In these five patients, the authors performed an average of 10.2 operations per patient, including five lengthenings and a mean total extension of 69.7 mm per patient. Acetabular loosening and hip dislocations were the most frequent complications. Only two patients have not had a revision or a major complication. Despite this, four children are alive with a functioning lower limb and a mean Musculoskeletal Tumor Society functional score of 77.6%. Extensible endoprosthesis of the proximal femur is a viable alternative to hip disarticulation and in selected children offers an opportunity for near-normal development of the lower limb by allowing equalization of limb length and the ability to walk without the use of mobility aids.