Causes and consequences of delayed diagnosis in breast cancer screening with a focus on mammographic features and tumour characteristics.

PURPOSE: To study the prevalence, causes and consequences of delayed breast cancer diagnosis in the screening population. METHODS: This retrospective study was performed in women who underwent biennial screening mammography between January 1, 2009 and June 30, 2019. Patients were divided into 3 groups; screen-detectedbreast cancer (SDC) without a diagnostic delay, a primary diagnostic delay(i.e. missed cancer at previous screening round)and a delay in diagnostic work-up after recall. Women with a true interval cancer (IC; i.e. not visible on prior examinations) were excluded. Outcome parameters included mammographic and tumour characteristics, lymph node status and surgical treatment. RESULTS: In our sample of 4491 women with breast cancer (4292 SDC and 199 'missed' IC), respectively, a total of 1112 women experienced a diagnostic delay of ≥ 4 months. Compared to women without a diagnostic delay (n = 2720), the 176 women with a delay in diagnostic work-up showed overall similar mammographic abnormalities (P = 0.052). These groups show similar distributions in invasive tumours, tumour stage and lymph node status (P = 0.25, P = 0.95 and P = 0.93, respectively). Women with a primary diagnostic delay (n = 936) showed less calcifications (P < 0.001), and more masses with calcifications and architectural distortions on mammography (P = 0.01 and P = 0.04, respectively). Moreover, this group comprised larger tumours (P < 0.001) and lymph node metastases (P < 0.001), and more often underwent mastectomy (P < 0.001). CONCLUSIONS: A primary diagnostic delay in breast cancer diagnosis results in less favourable tumour characteristics and relatively more mastectomies compared to no delay in breast cancer diagnosis and a delay in diagnostic work-up after recall.

Quantifying the Effects of Hip Surgery on the Sphericity of the Femoral Head in Patients with Mucopolysaccharidosis Type I.

BACKGROUND: The introduction of stem cell transplantation has improved life expectancy and cognitive outcome in patients with mucopolysaccharidosis I, but this condition remains associated with substantial residual disease in several parts of the body. Many patients have hip dysplasia with progressive medial flattening of the femoral head. Quantitative evidence on the effect of surgery on remodeling to sphericity of flattened femoral heads is lacking. In the present study, we used statistical shape modeling to quantify the effect of hip surgery on the sphericity of the femoral head in patients with mucopolysaccharidosis I. METHODS: We performed a retrospective case control study involving a series of 23 patients with hip dysplasia due to mucopolysaccharidosis I. Surgery was not offered to the first 11 children (control group). Following a change in treatment protocol, the next 12 children underwent bilateral proximal femoral varus derotation osteotomy and Pemberton osteotomy for the treatment of acetabular dysplasia with progressive femoral head flattening (surgery group). The surgery and control groups were compared with a reference group of patients with normal hips. Statistical shape modeling was used to quantify the shape of the femoral head (i.e., flattening and/or roundness of the epiphysis). RESULTS: The mean age at the time of stem cell transplantation in the surgery and control groups was comparable (1.2 years). The mean age at the time of surgical intervention was 5.5 years, and mean duration of postoperative follow-up was 3.3 years. Statistical shape modeling showed variations within the total group in terms of medial indentation, width, height, and sphericity of the femoral heads. In contrast to the progressive femoral head flattening in the control group, the surgery group showed improvement of the sphericity of the femoral head after surgery. The overall shape characteristics of the femoral head in the surgery group were similar to those of the reference group of patients with normal hips. CONCLUSIONS: To our knowledge, this is the first study in patients with mucopolysaccharidosis I that has shown quantitative remodeling of the dysplastic, flattened femoral head to normal sphericity after increasing containment of the femoral head. LEVEL OF EVIDENCE: Therapeutic Level III. See Instructions for Authors for a complete description of levels of evidence.