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Case presentation

A 47-year-old female Caucasian patient presented with a right sided limp and ipsilateral thigh pain with an established diagnosis of CS according to the International Cowden Syndrome Consortium Operational Criteria1, positive for tumour suppressor phosphatase and tensin homolog gene (PTEN) mutation.

She was first diagnosed with thyroid follicular carcinoma and was treated with a thyroidectomy in 1989. The patient then developed breast cancer in 1991 for which she underwent lumpectomy followed by adjuvant radio-chemotherapy. Due to local recurrence the following year, she was treated with a left mastectomy and a few months later she underwent right nephrectomy for renal carcinoma. In 2003, she was diagnosed with left scapular renal metastatic and during the same year she developed brain metastases that required a right frontal lobe resection followed by whole brain radiotherapy. On presentation, she was known to have pulmonary and multiple bone metastases. Palliative skeletal radiotherapy was completed having exceeded the maximum radiation limits. As a last resort, she was on interferon treatment as well as bisphosphonates for palliation therapy.

On clinical examination, the right hip was painful with a restricted range of motion and she was unable to weight bear. At the distal part of her right femur a pulsatile mass could be felt but the knee had normal function with no effusion. There was no neurovascular deficit detectable. She scored 8 out of 10 in the visual analogue scale VAS for pain (VAS-P) and 3 out of 10 in the quality of life EuroQolVAS (VAS-EQ) questionnaires[7]. The Harris Hip Score[8] (HHS) was 46, the Beck Depression Index[9] (BDI) 28, the State-Trait Anxiety Index[10] (STAI) was 69, and she was given a score of 3 according to the American Society of Anesthesiologists (ASA)[11]. Radiographs of the pelvis and the entire right femur showed a destructive osteolytic lesion of the femoral head and neck occupying more than 50% of the bony mass with thinning of the medial femoral neck cortex and a large osteolytic lesion in the ipsilateral supracondylar region. Magnetic resonance imaging (MRI) of the right femur revealed a 5.3 cm in diameter bone metastasis within the distal femur which was breaching the posterior cortex and encroaching on the popliteal vessels (Figure 1, Figure 2 Figure 3). A vascular metastatic extrusion in the suprapatellar pouch was also detected (Figure 3). In addition, there was a similar lesion at the level of the lesser trochanter with an ill-defined intra-medullary component and marked cortical reaction (Figure 1). A 2.4 cm mass within the right femoral head extending into the subchondral bone and a second 3.5 cm mass in the femoral neck of lower intensity in STIR coronal views were also detected (Figure 2). MRI of the pelvis revealed vascular metastatic lesions adjacent to the acetabular roof and the posterolateral wall. The rest of the ipsilateral ilium and ischium were intact. Laboratory tests including a full blood count, renal, liver, thyroid function tests, clotting profile and parathyroid hormone levels were all within normal limits.

T1 weighted fat suppressed post gadolinium coronal views of the whole right femur :: Vascular lesions are shown at the distal intercondylar femoral site and the proximal femur adjacent to the esser trochanter  

[Figure ID: F1] Figure 1. T1 weighted fat suppressed post gadolinium coronal views of the whole right femur. Vascular lesions are shown at the distal intercondylar femoral site and the proximal femur adjacent to the esser trochanter. 
Coronal T2 weighted fat suppressed (STIR) view of the right hip joint :: Two different signals in the femoral neck. The most proximal was similar to subtrochanteric and distal femoral intercondylar signal most possibly of vascular origin. The most distal lesion was less vascular
[Figure ID: F2] Figure 2. Coronal T2 weighted fat suppressed (STIR) view of the right hip joint. Two different signals in the femoral neck. The most proximal was similar to subtrochanteric and distal femoral intercondylar signal most possibly of vascular origin. The most distal lesion was less vascular.
T1 fat suppression post gadolinium axial view of the distal femur :: The metastasis is bridging the anterior and the posterior femoral cortex and in places is in very close proximity to the popliteal neurovascular structures
[Figure ID: F3] Figure 3. T1 fat suppression post gadolinium axial view of the distal femur. The metastasis is bridging the anterior and the posterior femoral cortex and in places is in very close proximity to the popliteal neurovascular structures.