El Panel de Precisión de Cáncer de Tiroides Hereditario de Igenomix está indicado en aquellos casos en los que exista una sospecha clínica de cáncer de tiroides junto con antecedentes familiares, presentándose con las siguientes manifestaciones:
La utilidad clínica de este panel es:
|
GENE |
OMIM DISEASES |
INHERITANCE* |
% GENE COVERAGE (20X) |
HGMD** |
|
CDKN1A |
Multiple Endocrine Neoplasia Type 1 |
– |
100% |
2 of 2 |
|
CDKN1B |
Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 4 |
AD |
99.99% |
19 of 20 |
|
CDKN2B |
Familial Melanoma, Multiple Endocrine Neoplasia Type 1 |
– |
100% |
7 of 7 |
|
CDKN2C |
Multiple Endocrine Neoplasia Type 1 |
– |
99.83% |
2 of 2 |
|
FOXE1 |
Athyreosis, Bamforth-Lazarus Syndrome, Familial Papillary Or Follicular Thyroid Carcinoma, Hypothyroidism, Nonmedullary Thyroid Cancer |
AD,AR |
84.65% |
14 of 22 |
|
HABP2 |
Familial Papillary Or Follicular Thyroid Carcinoma, Venous Thromboembolism, Nonmedullary Thyroid Cancer, Nonmedullary |
AD |
100% |
2 of 2 |
|
HRAS |
Bladder Cancer, Costello Syndrome, Epidermal Nevus, Linear Nevus Sebaceus Syndrome, Schimmelpenning-Feuerstein-Mims Syndrome, Nonmedullary Thyroid Cancer |
AD |
100% |
34 of 34 |
|
MEN1 |
Familial Isolated Hyperparathyroidism, Insulinoma, Multiple Endocrine Neoplasia Type 1, Pituitary Gigantism, Prolactinoma |
AD |
99.90% |
871 of 876 |
|
MINPP1 |
Familial Papillary Or Follicular Thyroid Carcinoma, Nonmedullary Thyroid Cancer |
AD |
100% |
2 of 2 |
|
NRAS |
Colorectal Cancer, Epidermal Nevus, Large Congenital Melanocytic Nevus, linear Nevus Sebaceus Syndrome, Neurocutaneous Melanosis, Noonan Syndrome, RAS-associated Autoimmune Lymphoproliferative Syndrome Type 4, Schimmelpenning-Feuerstein-Mims Syndrome, Nonmedullary Thyroid Cancer |
AD |
100% |
15 of 15 |
|
RET |
Congenital Failure of Autonomic Control, Haddad Syndrome, Hereditary Pheochromocytoma-Paraganglioma, Multiple Endocrine Neoplasia Type 2A, Multiple Endocrine Neoplasia Type 2B, Pheochromocytoma, Renal Agenesis, Sporadic Pheochromocytoma/Secreting Paraganglioma, Familial Medullary Thyroid Carcinoma |
AD |
100% |
453 of 454 |
|
SRGAP1 |
Nonmedullary Thyroid Cancer |
AD |
99.92% |
5 of 5 |
* Herencia: AD: Autosómico Dominante; AR: autosómico recesivo; X: ligado a X; XLR: recesivo vinculado a X; Mi: mitocondrial; Mu: multifactorial; G: herencia gonosomal; D: herencia digénica
** HGMD: número de mutaciones clínicamente relevantes según HGMD
Dralle, H., Machens, A., & Lorenz, K. (2008). Hereditäre Schilddrüsenkarzinome [Hereditary thyroid cancer]. Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen, 79(11), 1017–1028. https://doi.org/10.1007/s00104-008-1558-y
Guilmette, J., & Nosé, V. (2017). Hereditary and familial thyroid tumours. Histopathology, 72(1), 70-81. doi: 10.1111/his.13373
Accardo, G., Conzo, G., Esposito, D., Gambardella, C., Mazzella, M., Castaldo, F., Di Donna, C., Polistena, A., Avenia, N., Colantuoni, V., Giugliano, D., & Pasquali, D. (2017). Genetics of medullary thyroid cancer: An overview. International journal of surgery (London, England), 41 Suppl 1, S2–S6. https://doi.org/10.1016/j.ijsu.2017.02.064
Haugen, B., Alexander, E., Bible, K., Doherty, G., Mandel, S., & Nikiforov, Y. et al. (2016). 2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer: The American Thyroid Association Guidelines Task Force on Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid, 26(1), 1-133. doi: 10.1089/thy.2015.0020
NCCN Clinical Practice Guidelines in Oncology: Thyroid Carcinoma. Version l.2016. National Comprehensive Cancer Network. (2021). Retrieved 18 February 2021, from https://www.nccn.org/professionals/physician_gls/pdf/thyroid.pdf.
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