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Somatic mutations in the MAP (mitogen-activated protein) kinase pathway have been found in about 80% of papillary thyroid tumors (PTCs). The evaluation of the PTC mutational profile is crucial for the definition of the prognosis and for predicting the effects of targeted and personalized therapies. Molecular characterization by mass spectrometry (Mass ARRAY) allows the search for multiple mutations in a single experiment, in a sensitive, fast and economic way. A Mass ARRAY platform (PTC-MA) was developed, capable of identifying the presence of the most common somatic point mutations and rearrangements in PTC (Pesenti et al., Endocrine 2017). The aim of the study is to characterize the mutational profile of a large series of papillary thyroid carcinomas (PTC). Tumor samples will be analyzed using our PTC-MA platform. The molecular profile of PTCs will be correlated with the clinical and prognostic characteristics of the patients.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with papillary thyroid cancer |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Genotyping | Genetic | Characterization of genetic profile of tumor tissues |
|
| Measure | Description | Time Frame |
|---|---|---|
| Mutational profile of PTCs | The mutational profile of about 600 PTCs will be characterized and correlate with the clinical characteristics and patient outcomes | years 1-8 |
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Inclusion Criteria:
Exclusion Criteria:
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Patients diagnosed with papillary thyroid cancer, operated and followed by our Center of Excellence for the Diagnosis and Treatment of Thyroid Tumors
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Marina Muzza, PhD | Contact | +390261191 | 2432 | m.muzza@auxologico.it |
| Name | Affiliation | Role |
|---|---|---|
| Laura Fugazzola, MD PhD | Istituto Auxologico Italiano-Milan, Italy | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Istituto Auxologico Italiano | Recruiting | Milan | MI | 20145 | Italy |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 29214440 | Result | Pesenti C, Muzza M, Colombo C, Proverbio MC, Fare C, Ferrero S, Miozzo M, Fugazzola L, Tabano S. MassARRAY-based simultaneous detection of hotspot somatic mutations and recurrent fusion genes in papillary thyroid carcinoma: the PTC-MA assay. Endocrine. 2018 Jul;61(1):36-41. doi: 10.1007/s12020-017-1483-2. Epub 2017 Dec 6. |
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| ID | Term |
|---|---|
| D000077273 | Thyroid Cancer, Papillary |
| ID | Term |
|---|---|
| D000231 | Adenocarcinoma, Papillary |
| D000230 | Adenocarcinoma |
| D002277 | Carcinoma |
| D009375 | Neoplasms, Glandular and Epithelial |
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| ID | Term |
|---|---|
| D005838 | Genotype |
| ID | Term |
|---|---|
| D055614 | Genetic Phenomena |
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papillary thyroid tumor tissue
| D009370 |
| Neoplasms by Histologic Type |
| D009369 | Neoplasms |
| D013964 | Thyroid Neoplasms |
| D004701 | Endocrine Gland Neoplasms |
| D009371 | Neoplasms by Site |
| D006258 | Head and Neck Neoplasms |
| D004700 | Endocrine System Diseases |
| D013959 | Thyroid Diseases |