[Multilocular Paget's disease in IBMPFD syndrome. A case report with 14-year follow-up]. / Multilokulärer Morbus Paget bei IBMPFD-Syndrom. Darstellung eines Krankheitsverlaufes über 14 Jahre.

Paget's osteodystrophia deformans is a monoostotic or polyostotic disease of the skeletal system with increased bone remodelling, structural modifications and skeletal deformation, typically arranged like a chessboard. The unusual case of a patient is described who had suffered from generalized Paget's disease of the bone for 14 years and also developed progressive myopathy and a behavioural variant frontotemporal dementia. Further cytogenetic diagnostics revealed a point mutation in the valosin-containing protein (VCP, p97) gene on chromosome 9p13-p12 consistent with the finding of inclusion body myopathy with early onset Paget's disease and frontotemporal dementia (IBMPFD syndrome). A causal therapy of this disease is not known. Conservative treatment with bisphosphonate therapy, intensive physiotherapeutic exercise and psychotherapeutic treatment was performed to retard the progression of the disease.

Scintimammography and single-photon emission computed tomography for postoperative image guidance for radiation treatment planning in breast cancer patients.

PURPOSE: To evaluate post-surgical tumor-metabolic regions outside of the computed tomography (CT)-defined volume for radiation therapy (RT) planning using functional imaging of scintimammography (SMG) ± single photon emission computerized tomography (SPECT) in breast cancer (BC) patients. METHODS: 62 operated high-risk BC females, mean age 50.45 years, underwent SMG±SPECT before RT planning. Twenty-one and twelve patients with stage I and IIa respectively had lumpectomy (LT) with axillary lymph node dissection (ALND), and modified radical mastectomy (Patay) + ALND was realized in 29 stage IIb-III patients. All SMG images, positive for viable tumor tissue (VTT) or metastatically involved lymph nodes (LNs) were verified cytologically/ histologically. Three early planar and delayed images were acquired after i.v. administration of 550-740 MBq 99mTc- MIBI or 99mTc-TF. Uptake values (UV) > 1.65 revealed VTT. RESULTS: Data in 49 (79%) of 62 patients were characterized as true-negative (TN; UV<1.35). In 13 (21%) patients SMG visualized 22 true-positive (TP) malignant lesions: 2 residual VTT in scars, 1 newly defined BC in the contralateral breast and 18 regional LN metastases (6 axillary, 6 parasternal, 1 sub- and 5 supraclavicular). All 22 TP VTT lesions were imaged by scintigraphy using different tumor-seeking radiopharmaceuticals: 99mTc-MIBI - 17 (77%) and 99mTc- TF - 5 (23%) of the TP lesions. One false-positive (FP) (inflammation: UV>1.65) and one false-negative (FN) (UV<1.35) foci were found. Applying SMG±SPECT for BC restaging after surgery, the RT volume was changed in 13 of 62 (21%) patients. CONCLUSION: SMG is a reliable imaging method for evaluating residual VTT, LN metastases or altered biological activity in the scars after BC surgery and could modify the irradiated volume, optimizing the therapeutic effect and minimizing RT side effects.

Bone scintigraphy in the monitoring of treatment effect of bisphosphonates in bone metastatic breast cancer.

PURPOSE: The aim of this retrospective study was to assess the possibilities of whole-body bone scintigraphy (WB BSc) in the monitoring of the effect of biphosphonate treatment in patients with breast cancer and bone metastases. PATIENTS AND METHODS: 51 breast cancer patients with bone metastases, aged from 33 to 73 years, were included.WB BSc was performed on a Siemens DIACAM gamma camera, 2-4 h after i.v. injection of 740 MBq 99mTc-MDP, before the start of the biphosphonate treatment (baseline scintigraphy) with zoledronic acid(Zometa) and at least 6 months thereafter (control scintigraphy) in order to avoid the "flare" effect. RESULTS: At the baseline WB BSc 41 (80.4%) patients presented with multiple (over 3) bone metastatic lesions, 9 (17.6%) patients with single (up to 3) lesions and 1 (1.96%) patient with a solitary bone metastasis. All bone metastases had osteoblastic appearance. At the control scintigraphy 4 (8%) patients showed complete therapeutic response (CR; no bone lesions were visualized); 21 (41%) patients partial response (PR; decrease in the number and the intensity of the lesions); 16 (31%) patients stable bone lesions (SD; no change in the number or the intensity of the bone metastases); and 10(20%) patients showed disease progression (PD). CONCLUSION: WB BSc is a reliable functional imaging modality for assessment of the biphosphonate therapeutic effect and an important method in the multimodal treatment planning of breast cancer patients.