Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Our patient had stage IIIAI Hodgkin's disease with synchronous myelofibrosis and myeloid metaplasia. A slowly progressive myeloproliferative disease developed over 9 1/2 years and terminated in a painful osteolytic bone disease, spinal extradural granulocytic sarcoma and acute megakaryocytic leukemia. It is likely that this was a result of the myeloproliferative disease rather than a late complication from combination chemotherapy. Our case demonstrates the importance of a curative approach to Hodgkin's disease even in the face of a coexistent disease with a long or unknown natural history.
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PMID:Synchronous Hodgkin's disease and myelofibrosis terminating with granulocytic sarcoma and acute megakaryocytic leukemia. 223 64

Paget's disease is a common bone disease which usually has little influence on the patient's mobility. Functional symptoms, such as pain, and bone deformation can be controlled partly by treatment. Cardiovascular complications are rare, except for arterial hypertension which seems to be closely related to the skeletal dystrophy. The incidence of sarcoma is difficult to evaluate, but that disease has a frightful prognosis little improved by therapeutics. Neurological manifestations are diverse and due to anatomical alterations and vascular steal syndromes. Bone fractures are frequent and sometimes herald the disease. Pagetic arthropathies may benefit from surgery after medical treatment.
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PMID:[Functional consequences and complications of Paget's disease]. 273 77

Sarcoma of the head and neck region following irradiation for primary malignancy other than retinoblastoma has rarely been reported. Three cases of postirradiation sarcoma arising in the head and neck region following definitive radiotherapy for primary malignancies of the nasal cavity, paranasal sinuses, and larynx are presented. The intervals from initial radiation to diagnosis of sarcoma were 10 years, 10 1/2 years, and 12 1/2 years, respectively. The dosage ranged from 6000--6400 rads using conventional fractionation (1750--1811 ret) on a 60Cobalt teletherapy unit. Methotrexate (25 mg I. V. every three days for seven doses) was utilized during the initial course of radiation in two of the three patients. The cases conform well to established criteria for the diagnosis of radiation-induced sarcoma. Postirradiation sarcoma of the head and neck region is a remote hazard that must be weighed against the benefits of curative radiation therapy, particularly when treating in the presence of bone disease or when treating retinoblastoma or benign lesions.
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PMID:Postirradiation sarcoma of the head and neck: a report of three late sarcomas following therapeutic irradiation for primary malignancies of the paranasal sinus, nasal cavity, and larynx. 742 4

Dislocation is the most common complication after proximal and total femur endoprosthetic reconstruction. The current study describes a surgical technique of acetabular preservation and reconstruction of the joint capsule and abductor mechanism that recreates joint stability and avoids dislocation. Between 1980 and 1996, 57 patients underwent proximal or total femur resection with endoprosthetic reconstruction. Forty-six patients had primary sarcoma of bone, nine had other bone tumors, and two had metabolic bone disease. The acetabulum was spared and not resurfaced in all patients. Bipolar hemiarthroplasty was performed in 49 patients, and fixed unipolar hemiarthroplasty was performed in eight. Soft tissue reconstruction included Dacron tape capsulorrhaphy over the prosthetic neck, reattachment of the abductor mechanism to the prosthesis, and extracortical bone fixation. The average followup period was 6.5 years (range, 2-18.2 years). Dislocation occurred in only one (1.7%) patient, and aseptic prosthetic loosening occurred in three (5.3%) patients. Four patients with primary bone sarcoma had local recurrence, of whom one required amputation of the limb. The limb salvage rate was 98%. Eighty-one percent of the patients had a good to excellent functional outcome. Acetabular preservation, capsulorrhaphy, and reconstruction of the abductor mechanism recreate hip stability and avoid dislocation after proximal and total femur endoprosthetic reconstruction.
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PMID:Reconstruction of hip stability after proximal and total femur resections. 1085 73

Purpose. We report a series of 58 patients with metastatic bone disease treated with resection and endoprosthetic reconstruction over a five-year period at our institution. Introduction. The recent advances in adjuvant and neoadjuvant therapy in cancer treatment have resulted in improved prognosis of patients with bone metastases. Most patients who have either an actual or impending pathological fracture should have operative stabilisation or reconstruction. Endoprosthetic reconstructions are indicated in patients with extensive bone loss, failed conventional reconstructions, and selected isolated metastases. Methods and Results. We identified all patients who were diagnosed with metastatic disease to bone between 1999 and 2003. One hundred and seventy-one patients were diagnosed with bone metastases. Metastatic breast and renal cancer accounted for 84 lesions (49%). Fifty-eight patients with isolated bone metastasis to the appendicular skeleton had an endoprosthetic reconstruction. There were 28 males and 30 females. Twelve patients had an endoprosthesis in the upper extremity and 46 patients had an endoprosthesis in the lower extremity. The mean age at presentation was 62 years (24 to 88). At the time of writing, 19 patients are still alive, 34 patients have died, and 5 have been lost to follow up. Patients were followed up and evaluated using the musculoskeletal society tumour score (MSTS) and the Toronto extremity salvage score (TESS). The mean MSTS was 73% (57% to 90%) and TESS was 71% (46% to 95%). Mean follow-up was 48.2 months (range 27 to 82 months) and patients died of disease at a mean of 22 months (2 to 51 months) from surgery. Complications included 5 superficial wound infections, 1 aseptic loosening, 4 dislocations, 1 subluxation, and 1 case, where the tibial component of a prosthesis rotated requiring open repositioning. Conclusions. We conclude that endoprosthetic replacement for the treatment of isolated bone metastases is a reliable method of limb reconstruction in selected cases. It is associated with low complication and failure rates in our series, and achieves the aims of restoring function, allowing early weight bearing and alleviating pain.
Sarcoma 2007
PMID:The use of massive endoprostheses for the treatment of bone metastases. 1767 31

We analysed a series of 119 patients presenting with Paget's bone disease treated at the Istituto Ortopedico Rizzoli (Bologna Italy) over 35 years (from 1970 to 2006). Among these, we found 18 cases that had degenerated into sarcoma. The first goal of this study was to underline the potential factors of Paget's disease transformation into sarcoma. In detail we considered: age, gender, duration of disease, clinical expression, levels of total alkaline phosphatase and type of therapy. The results highlighted an interesting correlation between therapy and degeneration into sarcoma; more specifically, malignant transformation occurred both in patients who had not received any therapy and those who had received regular calcitonin treatment; otherwise, no sarcoma degeneration occurred in the patients treated with bisphosphonates. These data seem to indicate a preventing effect of bisphosphonates towards the degeneration of Paget's disease into sarcoma.
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PMID:Degeneration of Paget's disease into sarcoma: clinical and therapeutic influencing factors. 1840 34

Although Paget's disease of bone (PDB) is the second most common metabolic bone disease, to our knowledge, there is only one quantitative analysis on the histological and especially on the histomorphometric level. Therefore, the aim of this study was to analyze, on the basis of the Hamburg Bone Register, PBD in terms of incidence, skeletal distribution, malignant transformation, and histological and histomorphometric characteristics. Bone biopsies and patient files of 754 cases with histologically proven PDB were reviewed in a retrospective study. Quantitative static histomorphometry was performed on a representative subgroup of 247 biopsies derived from patients with manifestation of PDB at the iliac crest and compared with an age- and sex-matched control group. The peak incidence of PDB was between 70 and 80 yr of age. The majority of monostotic skeletal manifestation was localized at the os ilium, followed by the spine and femur. Histomorphometric results showed a high bone turnover with a significant increase in bone resorption and bone formation indices leading to an increased bone volume. Paget sarcoma was diagnosed in 6 of 754 patients, indicating a malignant transformation in 0.8% of the affected patients. Taken together, our study characterizes PDB in Germany on the basis of one of the largest cohorts of patients with histologically proven PDB. Moreover, for the first time, a quantitative histomorphometric approach was taken for >200 cases, where we could show local high bone mass lesions as a result of an increase of both osteoclast and osteoblast indices.
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PMID:Paget's disease of bone: histologic analysis of 754 patients. 1876 30

Metastatic pathological fractures of the proximal femur are increasingly treated by endoprosthetic proximal femoral replacement. We report the results and the costs incurred performing these procedures at our supra-regional sarcoma unit. Sixty-two patients underwent 63 proximal femoral replacements for metastatic bone disease over a seven-year period. Breast cancer was the most common primary pathology. One patient underwent a revision procedure for infection. Twenty-two patients suffered dislocations, most commonly those undergoing a conventional arthroplasty articulation. The estimated cost of a proximal femoral replacement is 18,002 pounds at our centre. Less than half of this is reimbursed under Payment by Results. Endoprosthetic replacement of the proximal femur is an effective treatment of metastases, but is poorly reimbursed under current funding arrangements.
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PMID:Proximal femoral replacements for metastatic bone disease: financial implications for sarcoma units. 1960 65

We examined the role of total body magnetic resonance imaging (TB-MRI)-governed involved compartment irradiation (ICI) and high-dose chemotherapy (HDC), followed by stem cell rescue (SCR) in patients with high-risk Ewing tumors (ETs) with multiple primary bone metastases (high-risk ET-MBM). Eleven patients with high-risk ET-MBM receiving initial assessment of involved bones by TB-MRI were registered from 1995 to 2000 (group A). In all, 6 patients out of 11 had additional lung disease at initial diagnosis; all had multifocal bone disease with more than three bones involved. After systemic induction with etoposide, vincristine, adriamycin (doxorubicin), ifosfamide, and actinomycin D (EVAIA) or VAIA chemotherapy, ICI of all sites positive by TB-MRI was administered, followed by HDC and SCR. A second group matched for observation period and consisting of 26 patients with more than three involved bones at diagnosis was treated with the European Intergroup Cooperative Ewing Sarcoma Study-92 (EICESS-92) protocol (group B). These patients did not receive TB-MRI and consequently did not receive TB-MRI-governed ICI, or HDC and SCR. Survival in group A vs group B was 45 vs 8% at 5 years and 27 vs 8% at 10 years after diagnosis (log rank and Breslow: P<0.005). We conclude that TB-MRI-governed ICI followed by HDC and SCR in ET-MBM is feasible and warrants further evaluation in prospective studies.
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PMID:Total body MRI-governed involved compartment irradiation combined with high-dose chemotherapy and stem cell rescue improves long-term survival in Ewing tumor patients with multiple primary bone metastases. 1968 33

Osteosarcoma is an aggressive but ill-understood cancer of bone that predominantly affects adolescents. Its rarity and biological heterogeneity have limited studies of its molecular basis. In recent years, an important role has emerged for the RUNX2 "platform protein" in osteosarcoma oncogenesis. RUNX proteins are DNA-binding transcription factors that regulate the expression of multiple genes involved in cellular differentiation and cell-cycle progression. RUNX2 is genetically essential for developing bone and osteoblast maturation. Studies of osteosarcoma tumours have revealed that the RUNX2 DNA copy number together with RNA and protein levels are highly elevated in osteosarcoma tumors. The protein is also important for metastatic bone disease of prostate and breast cancers, while RUNX2 may have both tumor suppressive and oncogenic roles in bone morphogenesis. This paper provides a synopsis of the current understanding of the functions of RUNX2 and its potential role in osteosarcoma and suggests directions for future study.
Sarcoma 2011
PMID:The Role of RUNX2 in Osteosarcoma Oncogenesis. 2119 65


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