Endocrine Cancer Precision Panel
Endocrine neoplasms comprise a variety of benign and malign tumors that arise from the endocrine and neuroendocrine glands. Depending on the tumor type, 10% to 40% of cases are associated with inherited genetic disorders. There are several hereditary syndromes that involve endocrine or neuroendocrine glands, such as multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2 (MEN2A and MEN2B), multiple endocrine neoplasia type 4 (MEN4), SDH-related familial paraganglioma-pheochromocytoma syndromes, Li-Fraumeni syndrome, Neurofibromatosis type 1, familial nonmedullary thyroid cancer syndromes, familial adenomatous polyposis, and von Hippel-Lindau disease.
Early detection of endocrine cancer syndromes by molecular analysis methods provides anticipatory guidance for prevention or early detection of manifestations, predict likelihood of tumor progression toward malignancy, uncover targeted treatment options, and offers inherited risk information for family members.
As many of the oncologists are used to group and study the different cancer types in systems or specialities, the main objective of this product is to provide them with a more manageable diagnostic tool according to their field of knowledge.
The Igenomix Endocrine Cancer Precision Panel is indicated in those cases in which the physician requires an accurate diagnosis of individuals with an endocrine tumour and additional features suggestive of a hereditary cancer syndrome. It is designed to ascertain whether a patient with one or more endocrine neoplasms is a spontaneous case or associated with an endocrine cancer syndrome and to act accordingly, providing the patient and even family members with the appropriate management of the condition.
- Identify pathogenic cancer susceptibility variants
- Maximize surveillance and preventive strategies for at risk individuals
- Provide options and strategies for targeted treatment, therapeutic planning, and clinical trials
- Perform risk assessment and genetic counselling for family members (cascade testing)
Anik, A., & Abaci, A. (2014). Endocrine cancer syndromes: an update. Minerva pediatrica, 66(6), 533–547.
Pilarski, R., & Nagy, R. (2012). Genetic testing by cancer site: endocrine system. Cancer journal (Sudbury, Mass.), 18(4), 364–371. https://doi.org/10.1097/PPO.0b013e3182609458
Laha, D., Nilubol, N., & Boufraqech, M. (2020). New Therapies for Advanced Thyroid Cancer. Frontiers in endocrinology, 11, 82. https://doi.org/10.3389/fendo.2020.00082
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
HEREDITARY ENDOCRINE TUMOURS: CURRENT STATE-OF-THE-ART AND RESEARCH OPPORTUNITIES: Challenges and opportunities in genetic counseling for hereditary endocrine neoplasia síndromes. Endocrine-Related Cancer (2020) 27, T65–T75; 1530/ERC-19-0454