Concomitant deletion of the short arm (del(1p13.3)) and amplification or gain (1q21) of chromosome 1 by fluorescence in situ hybridization are associated with a poor clinical outcome in multiple myeloma.

BACKGROUND: Chromosome 1 abnormalities in multiple myeloma (MM) are increasingly recognized as high risk-defining features. The authors report the prognostic value of del(1p13.3) by fluorescence in situ hybridization (FISH) at enrollment in subjects treated on total therapy clinical trials 2-6. METHODS: FISH probes were generated from specific BAC DNA clones for the AHCYL1 gene locus (1p13.3) and the CKS1B locus (1q21). RESULTS: A total of 1133 patients were included in this analysis. Although del(1p13.3) was detected in 220 (19.4%) patients, 1q21gain or 1q21amp were observed in 300 (26.5%) and 150 (13.2%) patients, respectively. Concomitant del(1p13.3) with 1q21 gain or amp was observed in 65 (5.7%) and 29 (2.5%) patients, respectively. There was enrichment of high-risk features such as International Staging System (ISS) stage 3 disease and gene expression profiling (GEP)70 high risk (HR) in the group with del(1p13.3). Presence of del(1p13.3) confers inferior progression-free survival (PFS) and overall survival (OS). On multivariate analysis, the presence of ISS stage 3 disease, GEP70 HR, 1q21gain, and 1q21amp were independent predictors of PFS or OS. CONCLUSIONS: The PFS and OS of patients with combined abnormalities of del (1p13.3)/1q21gain or amp was significantly worse compared to del(1p13.3) alone and 1q21gain or 1q21 amp alone, which identifies a subset of patients with poor clinical outcomes.

The Risk of Curve Progression and Surgery in African Americans With Adolescent Idiopathic Scoliosis.

STUDY DESIGN: Retrospective clinical cohort study. OBJECTIVE: To determine if certain risk factors (age, curve magnitude, skeletal maturity, gender, and curve pattern) traditionally associated with curve progression and surgical intervention in the general population apply equally to African Americans. SUMMARY OF BACKGROUND DATA: Currently, information is limited on the role that a patient's race plays in the risk of curve progression of adolescent idiopathic scoliosis (AIS), and existing studies have conflicting results. METHODS: Retrospective search of records identified patients who were African American, had been diagnosed with AIS, had a major curve Cobb angle of 10 degrees or more, and had at least two clinical visits with spinal radiographs at least 90 days apart to determine the risk factors for surgical treatment, and 2 years apart to determine the risk factors for curve progression. Patients with a medical condition likely to cause scoliosis were excluded. RESULTS: Of 738 African American patients with AIS, 223 were assessed for surgical risk factors, and 72 were assessed for curve progression risk factors. Fifty-six (29.17%) had progression of the major coronal curve, and 38 (17.04%) underwent surgery. Age at presentation and curve magnitude at presentation were significant risk factors for surgical intervention. Curve magnitude at presentation was a significant risk factor for curve progression. No significant relationships were found for gender or curve type as they relate to surgical intervention or curve progression. CONCLUSION: Age and curve magnitude at presentation were significantly associated with surgery, as is true in other scoliosis populations. Curve magnitude at presentation was associated with curve progression. In contrast to studies in other populations, however, no significant association was observed between curve progression and age at presentation, curve type, or gender, or between surgery and curve type or gender. LEVEL OF EVIDENCE: Level III, prognostic cohort study.

Progressive valgus deformity after curettage of benign lesions of the proximal tibia.

BACKGROUND: Progressive valgus deformity after proximal tibial metaphyseal fractures in pediatric patients has been well described, although the pathophysiology is not clear. We performed a retrospective study to evaluate the occurrence of progressive tibia valga after curettage of benign bone lesions of the tibia. METHODS: During a 6-year period, we performed curettage and bone grafting of benign bone lesions of the tibia in 20 patients aged 16 years and younger. Radiographs and clinical notes were reviewed. The diagnosis, age, sex, location of lesion, surgical approach, physeal arrest, limb-length discrepancy, deformity, and treatment were documented. RESULTS: Four patients subsequently developed progressive tibia valga (mean, 12 degrees; range, 7-21 degrees). Progressive valgus deformity occurred in 4 of 5 patients younger than 10 years old who had curettage of lesions of the proximal tibial metaphysis. Deformity did not occur in any of the 13 patients older than 10 years (range, 13-16 years) or in any of the 8 patients who had curettage of the distal tibia (age range, 6-14 years). In patients who developed tibia valga, the deformity progressed during the first 6 to 17 months postoperatively and then stabilized. One patient required corrective osteotomy at age 12 years for a symptomatic 21-degree deformity 3 years after curettage. The other 3 patients with tibia valga remained asymptomatic and demonstrated partial correction of their deformities, currently ranging from 3 to 7 degrees with a mean follow-up of 31 months (range, 19-47 months). CONCLUSIONS: Progressive tibia valga seem to be relatively common in patients younger than 10 years who have had curettage of the proximal tibial metaphysis. This potential sequela should be discussed thoroughly with the patient's parents before proceeding with surgery, and patients should be followed and evaluated for this postoperatively.