Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029463 (osteosarcoma)
 16,637 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical manifestations of Gardner's syndrome were studied in 280 patients from 11 families. Forty-five per cent of the patients at risk inherited the syndrome. Forty-one patients had carcinoma of the intestine develop, with only a 27 per cent survival rate for this type cancer. Eight per cent of the patients with the syndrome showed peritoneal fibrosis and fibrous tumors. They also had carcinomas of the ampulla of Vater, liver, bldder and ovary develop as well as osteogenic sarcoma. The patients without the syndrome had carcinomas of the pancreas and breast develop as well as melanoma and leukemia. Twelve of the 16 patients having had a colectomy and ileoproctostomy showed regression of the remaining polyps of the rectum.
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PMID:Gardner's syndrome. 115 13

A case of a very large solitary osteoma of the right posterior mandible in a 22-year-old man is presented. The tumor was asymptomatic despite its location and large size. It was removed via an extraoral Risdon approach without complication. The importance of differentiating a large solitary osteoma from a parosteal osteogenic sarcoma is emphasized. Any patient presenting with a solitary osteoma also should be evaluated for Gardner's syndrome.
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PMID:Gigantic osteoma of the mandible: report of a case. 159 29

We have presented a case of an osteoma of the clavicle in a 41-year-old man. The possibility of alternate diagnoses--in particular, ancient osteochondroma, posttraumatic hyperostosis, and parosteal osteosarcoma--was addressed. However, the pathological examination was most consistent with the diagnosis of osteoma. This benign bone lesion is most often found in the calvarium, jaw, and face. Osteomas of long bones remain extremely rare, except in the setting of Gardner's syndrome.
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PMID:Case report 698: Osteoma of the clavicle. 175 21

Most hereditary predispositions to tumours affect only one particular cell type of the body but the genes bearing the relevant germ-line mutation are not cell-type-specific. Some predisposition syndromes include increased risks of lesions (developmental or tumourous) of unrelated cell types, in any individual predisposed to the main lesion (e.g. osteosarcoma in patients predisposed to retinoblastoma). Other predispositions to additional lesions occur only in members of some families with the predisposition to the basic lesion (e.g. Gardner's syndrome in some families suffering familial adenomatous polyposis). In yet other predisposition syndromes, different mutations of the same gene are associated with markedly differing family-specific clinical syndromes. In particular, identical germline mutations (e.g. in APC, RET and PTEN genes), have been found associated with differing clinical syndromes in different families. This paper reviews previously suggested mechanisms of the cell-type specificity of inherited predispositions to tumour. Models of tumour formation in predisposition syndromes are discussed, especially those involving a germline mutation (the first 'hit') of a tumour suppressor gene (TSG) and a second (somatic) hit on the second allele of the same TSG. A modified model is suggested, such that the second hit is a co-mutation of the second allele of the TSG and a regulator which is specific for growth and/or differentiation of the cell type which is susceptible to the tumour predisposition. In some cases of tumour, the second hit may be large enough to be associated with a cytogenetically-demonstrable abnormality of the part of the chromosome carrying the TSG, but in other cases, the co-mutation may be of 'sub-cytogenetic' size (i.e. 10(2)-10(5) bases). For the latter, mutational mechanisms of frameshift and impaired fidelity of replication of DNA by DNA polyerases may sometimes be involved. Candidate cell-type-specific regulators may include microRNAs and perhaps transcription factors. It is suggested that searching the introns within 10(5)-10(6) bases either side of known of exonic mutations of TSGs associated with inherited tumour predisposition might reveal microRNA cell-type-specific regulators. Additional investigations may involve fluorescent in situ hybridisations on interphase tumour nuclei.
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PMID:The cell-type-specificity of inherited predispositions to tumours: review and hypothesis. 1553 89

The osteoma is a benign, bone-forming lesion that is not considered a true neoplasm. It almost exclusively affects the flat bones of the skull and face. Jaw lesions may cause facial deformity and impair oral function. Multiple osteomas may be associated with Gardner's syndrome. Clinically and radiographically, osteomas may need to be differentiated from other bone-forming lesions. This article describes a cancellous osteoma of the left maxillary molar and tuberosity area and differentiates it from other benign and malignant lesions, including the parosteal osteosarcoma.
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PMID:Cancellous osteoma of the maxillary tuberosity: case report. 1990 27

Due to the frequent use and availability of the orthopantomogram (OPG), dental practitioners are more frequently confronted with incidental findings such as osteomas located in the maxillary/-mandibular bone or inside the maxillary sinuses. Osteomas are benign slow-growing osteogenic tumors, which frequently develop in the mandible. In the midface, osteomas appear frequently in the frontoethmoidal sinuses. Maxillary sinus osteoma is a rare entity. Also in asymptomatic patients, cranio-facial osteomas need to be further investigated for a precise diagnosis. The clinical importance of osteomas lies in their differentiation from a malignant lesion such as the osteosarcoma. In patients with multiple osteomas, Gardner's syndrome (GS) as an underlying disease needs to be excluded. In this report, we present the case of a solitary maxillary sinus osteoma, incidentally found on the OPG. The surgical technique for the removal of the osteoma is presented. In this case, the patient was free of the stigmas associated with GS.
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PMID:Maxillary sinus osteoma: From incidental finding to surgical management. 2425 Jan 4

Bone islands (BI; enostoses) may be solitary or occur in the setting of osteopoikilosis (multiple bone islands) and are sometimes associated with Gardner's Syndrome (osteopoikilosis and colonic polyposis). Characteristic features of bone islands are (1) absence of pain or local tenderness, (2) typical radio dense central appearance with peripheral radiating spicules (rose thorn), (3) Mean CT (computerized tomography) attenuation values above 885 Hounsfield units (HU) (4) absence of uptake on bone scan and (5) radiographic stability over time. However, when enostoses display atypical features of pain, unusual radiographic appearance, aberrant HU, increased radiotracer uptake, and/or enlargement, they can be difficult to differentiate from more sinister bony lesions such as osteoblastic metastasis, low grade central osteosarcoma, osteoid osteoma and osteoblastoma. In this retrospective case series, the demographic, clinical, radiographic, treatment and outcome for ten patients with eleven atypical bone islands (ABI) are presented, some showing associated pain (5), some with atypical radiographic appearance (3), some with increased activity on BS (4), some with documented enlargement over time (7), one with abnormal CT attenuation value, some in the setting of osteopoikilosis (2), one in the setting of Gardner's Syndrome and one osteoid osteoma simulating a bone island. This series represents the spectrum of presentations of ABI. Comprehensive review of the literature reveals that the previous largest series of ABI showing enlargement as the atypical feature was in younger patients with jaw BI. Hence, this represents one of the largest series reported of ABI of all types in adults.
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PMID:Atypical Enostoses-Series of Ten Cases and Literature Review. 3306 73