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Sarcoma Mutation Analysis Panel
By definition, it is malignant (i.e., being locally invasive and at least theoreticlally capable of metastasizing), and arises from / mimics muscle or connective tissue elements that are not marrow or immune / white cells. The sarcomas are a tremendously varied and troublesome family of tumors, though thankfully less common than carcinomas and the leukemia / ...Read more
Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? If not, what additional indications are required for md to order germline analysis?
See below: Lynch sydrome is caused by a germline mutation in a gene leading to msi. Combined testing for msi, and using ihc to look for genetic abnormalities leading to msi are the best tests to determine if you have lynch syndrome. Further genetic testing could be done in people who test positive for msi or ihc. Please see: http://www.Mayoclinic.Com/health/lynch-syndrome/ds00669/dsection=tests-and-diagnosis. ...Read moreSee 1 more doctor answer
If a mutation is new & SIFT analysis predicts deleterious, but you only fit some of the criteria for the diagnosis, do you give the diagnose?
Thyroseq v2 was mutations NOT detected but analysis limited due to low amount of thyroid epithelial cells.So this test was useless?
Totally: B"sd absolutely right - genetic studies should only be done on an appropriate tissue specimen. To my knowlege, specimens are screened for adequacy before such testing. If the biopsy was indicated in the first place then it must be repeated - usually after an appropriate interval to allow the "needled" tissue to heal. ...Read more
Hello,i am twice i have abortion and i made Androgen analysis and this is the result( Tag Androgen in exon 1 of androgen receptor gens typ of mutation 23 high risk of abortion) Doctor what do you think about this analysis and what is the cure for it
Not Standard Care: Doctors in the US generally do not send genetic analyses as detailed as yours b/c we do not fully know what to do with results like that which may not bear significance on future pregnancies. We usually examine chromosomes but not genes. Is that genetic analysis from YOU or from the remnants of the pregnancy? For more information, see a genetic counselor. ...Read more
ACTUALLY IT CAN BE: There are some genetic abnormalities that predispose people to have sarcoma- for instance: li- fraumeni syndrome- where there is 7% risk for sarcoma; gardner syndrome/fap- related to high frequency of intraabdominal desmoid tumor, retinoblastoma is associated with osteosarcoma, rothmund-thomson syndrome (poikiloderma congenitale) is associated with osteosarcoma- etc. ...Read moreSee 1 more doctor answer
Rare tumor: A very malignant tumor of the liver that appears in younger people. In contrast to the more common tumor, the hepatocellular tumor or hepatoma, the embryonal sarcoma is a primitive mesenchymal tumour of unknown aetiology associated with multiple genetic mutations . Also known as malignant mesenchymoma, mesenchymal sarcoma, primary sarcoma, undifferentiated sarcoma, surgical resection needed. ...Read more
Bone cancer: Osteogenic sarcoma, or osteosarcoma, is a rare cancer. It forms bone tissue (when examined under a microscope) and usually arises in bone around knee or shoulder. Rarely, osteosarcoma may arise in the soft tissues. Most of the time there are random mutations causing the tumor but in rare cases there is a genetic mutation predisposing the patient. It is most common in teenagers and young adults. ...Read moreSee 1 more doctor answer
In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more
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