Genetic Bases of Neuroendocrine Neoplasms in Mexican Patients

NCT06523582 | Recruiting

• 1 other identifier: IMSSR-2022-785-011/INCMNSZ4090
• Study Type: observational
• Target: 750
• Locations: 1 country
• Sites: 3

Brief Summary

Neuroendocrine neoplasms (NENs) are a heterogeneous group of lesions derived from cells with the ability to produce hormones that may arise from multiple different organs. Their clinical behavior is quite variable, encompassing both benign lesions and aggressive tumors that invade surrounding and/or distant structures. NENs may also cause serious morbidity due to hormone oversecretion. NENs are among the most frequently inherited human tumors, presenting either isolated or as part of syndromes in which a single patient or family develops multiple tumors. There are also non-inherited changes in the genetic information of the tumor cells that are potential targets for treatment. Both inherited and non-inherited DNA defects can be identified using modern routine genetic tests which, unfortunately, are not widely available in Mexico. This project seeks to uncover the genetic defects causing NENs in a large cohort of Mexican patients, using three different methods for genetic testing. Adult individuals with various types of NENs from two reference hospitals in Mexico City will be invited to participate. After completing informed consent, blood and, if possible, tissue samples will be obtained from all participants. Clinical details, laboratory results, imaging studies, and histopathological data at disease presentation will be retrieved. An initial screening will be performed by analyzing changes in the sequence of multiple genes that have been associated with the occurrence of NENs. In cases with negative screening, a specific method to assess changes in the number of copies of the same genes will also be employed. Finally, sequences of all DNA regions encoding information required to make proteins will be obtained in selected cases. Analyses will be carried out in blood and, if available, also in tumor tissue samples from study participants. Screening of additional family members will be offered. This project will accurately describe the repertoire of specific defects causing NENs in the study population, and will likely uncover and characterize novel genetic associations. The results will contribute for a better understanding of the alterations within and outside known driver genes that shape syndromic presentations, tumor behaviors, and inheritance patterns in individuals with NENs. These data will contribute to improve the information on the molecular bases of NENs, including alterations that can be used as therapeutic targets.

Conditions

Neuroendocrine Neoplasm; Neuroendocrine Neoplasm of Gastrointestinal Tract; Neuroendocrine Neoplasm of Lung; Thymic Neuroendocrine Neoplasm; Neuroendocrine Tumor of Pancreas; Gastrointestinal Stromal Tumors; Medullary Thyroid Cancer; Paraganglioma; Pheochromocytoma; Primary Hyperparathyroidism; Pituitary Tumor; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Multiple Endocrine Neoplasia Type 4; Carney Complex; Carney Stratakis Dyad; Carney Triad; Cowden Syndrome; DICER1 Syndrome; Li-Fraumeni Syndrome; Lynch Syndrome; Von Hippel-Lindau Disease; Familial Isolated Pituitary Adenoma; X-Linked Acrogigantism; Neurofibromatosis 1; Tuberous Sclerosis

Outcome Measures

Primary Outcomes (1)

• Detection of a germline or somatic genetic defect of interest.

  Detection of a genetic defect classified as pathogenic, likely pathogenic, or of uncertain significance in accordance with the criteria of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  Up to fifteen years from the date of recruitment.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Individuals with new or previous clinical diagnosis of the conditions included in the eligibility criteria under follow up at either of two reference hospitals in Mexico City: Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, and Specialties Hospital of Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social. All individuals must provide written informed consent to be included in the study.

You may qualify if:

• Adult patients with a new or previous clinical diagnosis of any of the following conditions:
• Isolated NENs with sporadic presentation, including bronchopulmonary NENs, gastrointestinal NENs, medullary thyroid carcinoma, pancreatic NENs, paragangliomas, pheochromocytomas, pituitary neuroendocrine tumors, and primary hyperparathyroidism.
• Familial isolated NENs, including familial isolated pituitary adenoma, familial pheochromocytomas and paragangliomas, familial primary hyperparathyroidism, familial gastrointestinal stromal tumors and X-linked acrogigantism.
• Clinical syndromes encompassing NENs, with familial or sporadic presentation, including Carney complex, Carney-Stratakis syndrome, Carney triad, Cowden syndrome, DICER1 syndrome, Li-Fraumeni syndrome, Lynch syndrome, multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2, multiple endocrine neoplasia type 4, neurofibromatosis type 1, Pacak-Zhuang syndrome, paraganglioma, pheochromocytoma and pituitary adenoma syndrome, tuberous sclerosis complex, Von Hippel Lindau syndrome.

You may not qualify if:

• Age \<18 years.
• Refusal to give informed consent.

Sponsors & Collaborators

• Universidad Nacional Autonoma de Mexico: lead
• Instituto Mexicano del Seguro Social: collaborator
• Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran: collaborator

Study Sites (3)

Hospital de Especialidades, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social

Mexico City, Mexico City, 06720, Mexico

RECRUITING

Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

Mexico City, Mexico City, 14080, Mexico

RECRUITING

Red de Apoyo a la Investigación, Coordinación de la Investigación Científica, Universidad Nacional Autónoma de México

Mexico City, Mexico City, 14080, Mexico

RECRUITING

Related Publications (40)

• Kloppel G, Rindi G, Anlauf M, Perren A, Komminoth P. Site-specific biology and pathology of gastroenteropancreatic neuroendocrine tumors. Virchows Arch. 2007 Aug;451 Suppl 1:S9-27. doi: 10.1007/s00428-007-0461-0. Epub 2007 Aug 8.

  PMID: 17684761 BACKGROUND

• Asa SL, Mete O, Cusimano MD, McCutcheon IE, Perry A, Yamada S, Nishioka H, Casar-Borota O, Uccella S, La Rosa S, Grossman AB, Ezzat S; Attendees of the 15th Meeting of the International Pituitary Pathology Club, Istanbul October 2019. Pituitary neuroendocrine tumors: a model for neuroendocrine tumor classification. Mod Pathol. 2021 Sep;34(9):1634-1650. doi: 10.1038/s41379-021-00820-y. Epub 2021 May 21.

  PMID: 34017065 BACKGROUND

• Johansson E, Andersson L, Ornros J, Carlsson T, Ingeson-Carlsson C, Liang S, Dahlberg J, Jansson S, Parrillo L, Zoppoli P, Barila GO, Altschuler DL, Padula D, Lickert H, Fagman H, Nilsson M. Revising the embryonic origin of thyroid C cells in mice and humans. Development. 2015 Oct 15;142(20):3519-28. doi: 10.1242/dev.126581. Epub 2015 Sep 22.

  PMID: 26395490 BACKGROUND

• Kulke MH, Shah MH, Benson AB 3rd, Bergsland E, Berlin JD, Blaszkowsky LS, Emerson L, Engstrom PF, Fanta P, Giordano T, Goldner WS, Halfdanarson TR, Heslin MJ, Kandeel F, Kunz PL, Kuvshinoff BW 2nd, Lieu C, Moley JF, Munene G, Pillarisetty VG, Saltz L, Sosa JA, Strosberg JR, Vauthey JN, Wolfgang C, Yao JC, Burns J, Freedman-Cass D; National comprehensive cancer network. Neuroendocrine tumors, version 1.2015. J Natl Compr Canc Netw. 2015 Jan;13(1):78-108. doi: 10.6004/jnccn.2015.0011.

  PMID: 25583772 BACKGROUND

• Crona J, Skogseid B. GEP- NETS UPDATE: Genetics of neuroendocrine tumors. Eur J Endocrinol. 2016 Jun;174(6):R275-90. doi: 10.1530/EJE-15-0972.

  PMID: 27165966 BACKGROUND

• Furlan A, Dyachuk V, Kastriti ME, Calvo-Enrique L, Abdo H, Hadjab S, Chontorotzea T, Akkuratova N, Usoskin D, Kamenev D, Petersen J, Sunadome K, Memic F, Marklund U, Fried K, Topilko P, Lallemend F, Kharchenko PV, Ernfors P, Adameyko I. Multipotent peripheral glial cells generate neuroendocrine cells of the adrenal medulla. Science. 2017 Jul 7;357(6346):eaal3753. doi: 10.1126/science.aal3753.

  PMID: 28684471 BACKGROUND

• Kastriti ME, Kameneva P, Kamenev D, Dyachuk V, Furlan A, Hampl M, Memic F, Marklund U, Lallemend F, Hadjab S, Calvo-Enrique L, Ernfors P, Fried K, Adameyko I. Schwann Cell Precursors Generate the Majority of Chromaffin Cells in Zuckerkandl Organ and Some Sympathetic Neurons in Paraganglia. Front Mol Neurosci. 2019 Jan 25;12:6. doi: 10.3389/fnmol.2019.00006. eCollection 2019.

  PMID: 30740044 BACKGROUND

• Zandee WT, Kamp K, van Adrichem RC, Feelders RA, de Herder WW. Effect of hormone secretory syndromes on neuroendocrine tumor prognosis. Endocr Relat Cancer. 2017 Jul;24(7):R261-R274. doi: 10.1530/ERC-16-0538. Epub 2017 May 8.

  PMID: 28483790 BACKGROUND

• Melmed S. Pituitary-Tumor Endocrinopathies. N Engl J Med. 2020 Mar 5;382(10):937-950. doi: 10.1056/NEJMra1810772. No abstract available.

  PMID: 32130815 BACKGROUND

• Yao JC, Hassan M, Phan A, Dagohoy C, Leary C, Mares JE, Abdalla EK, Fleming JB, Vauthey JN, Rashid A, Evans DB. One hundred years after "carcinoid": epidemiology of and prognostic factors for neuroendocrine tumors in 35,825 cases in the United States. J Clin Oncol. 2008 Jun 20;26(18):3063-72. doi: 10.1200/JCO.2007.15.4377.

  PMID: 18565894 BACKGROUND

• Capdevila J, Casanovas O, Salazar R, Castellano D, Segura A, Fuster P, Aller J, Garcia-Carbonero R, Jimenez-Fonseca P, Grande E, Castano JP. Translational research in neuroendocrine tumors: pitfalls and opportunities. Oncogene. 2017 Apr 6;36(14):1899-1907. doi: 10.1038/onc.2016.316. Epub 2016 Sep 19.

  PMID: 27641330 BACKGROUND

• Buffet A, Burnichon N, Favier J, Gimenez-Roqueplo AP. An overview of 20 years of genetic studies in pheochromocytoma and paraganglioma. Best Pract Res Clin Endocrinol Metab. 2020 Mar;34(2):101416. doi: 10.1016/j.beem.2020.101416. Epub 2020 Mar 10.

  PMID: 32295730 BACKGROUND

• McDonnell JE, Gild ML, Clifton-Bligh RJ, Robinson BG. Multiple endocrine neoplasia: an update. Intern Med J. 2019 Aug;49(8):954-961. doi: 10.1111/imj.14394.

  PMID: 31387156 BACKGROUND

• Chevalier B, Dupuis H, Jannin A, Lemaitre M, Do Cao C, Cardot-Bauters C, Espiard S, Vantyghem MC. Phakomatoses and Endocrine Gland Tumors: Noteworthy and (Not so) Rare Associations. Front Endocrinol (Lausanne). 2021 May 6;12:678869. doi: 10.3389/fendo.2021.678869. eCollection 2021.

  PMID: 34025587 BACKGROUND

• Denes J, Korbonits M. The clinical aspects of pituitary tumour genetics. Endocrine. 2021 Mar;71(3):663-674. doi: 10.1007/s12020-021-02633-0. Epub 2021 Feb 4.

  PMID: 33543431 BACKGROUND

• Pitsava G, Settas N, Faucz FR, Stratakis CA. Carney Triad, Carney-Stratakis Syndrome, 3PAS and Other Tumors Due to SDH Deficiency. Front Endocrinol (Lausanne). 2021 May 3;12:680609. doi: 10.3389/fendo.2021.680609. eCollection 2021.

  PMID: 34012423 BACKGROUND

• Halperin R, Tirosh A. Non-Interventional Management of Advanced Pancreatic Neuroendocrine Neoplasms in Patients with von Hippel-Lindau Disease. Cancers (Basel). 2023 Mar 13;15(6):1739. doi: 10.3390/cancers15061739.

  PMID: 36980625 BACKGROUND

• WILLIAMS ED. A REVIEW OF 17 CASES OF CARCINOMA OF THE THYROID AND PHAEOCHROMOCYTOMA. J Clin Pathol. 1965 May;18(3):288-92. doi: 10.1136/jcp.18.3.288.

  PMID: 14304238 BACKGROUND

• Chong GC, Beahrs OH, Sizemore GW, Woolner LH. Medullary carcinoma of the thyroid gland. Cancer. 1975 Mar;35(3):695-704. doi: 10.1002/1097-0142(197503)35:33.0.co;2-w.

  PMID: 1111937 BACKGROUND

• Fountain JW, Wallace MR, Brereton AM, O'Connell P, White RL, Rich DC, Ledbetter DH, Leach RJ, Fournier RE, Menon AG, et al. Physical mapping of the von Recklinghausen neurofibromatosis region on chromosome 17. Am J Hum Genet. 1989 Jan;44(1):58-67.

  PMID: 2491783 BACKGROUND

• Ledbetter DH, Rich DC, O'Connell P, Leppert M, Carey JC. Precise localization of NF1 to 17q11.2 by balanced translocation. Am J Hum Genet. 1989 Jan;44(1):20-4.

  PMID: 2491776 BACKGROUND

• Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science. 1993 May 28;260(5112):1317-20. doi: 10.1126/science.8493574.

  PMID: 8493574 BACKGROUND

• Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 1997 Apr 18;276(5311):404-7. doi: 10.1126/science.276.5311.404.

  PMID: 9103196 BACKGROUND

• Wells SA Jr, Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF, Lee N, Machens A, Moley JF, Pacini F, Raue F, Frank-Raue K, Robinson B, Rosenthal MS, Santoro M, Schlumberger M, Shah M, Waguespack SG; American Thyroid Association Guidelines Task Force on Medullary Thyroid Carcinoma. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015 Jun;25(6):567-610. doi: 10.1089/thy.2014.0335.

  PMID: 25810047 BACKGROUND

• Iacovazzo D, Hernandez-Ramirez LC, Korbonits M. Sporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening. Expert Rev Endocrinol Metab. 2017 Mar;12(2):143-153. doi: 10.1080/17446651.2017.1306439.

  PMID: 30063429 BACKGROUND

• Papathomas TG, Suurd DPD, Pacak K, Tischler AS, Vriens MR, Lam AK, de Krijger RR. What Have We Learned from Molecular Biology of Paragangliomas and Pheochromocytomas? Endocr Pathol. 2021 Mar;32(1):134-153. doi: 10.1007/s12022-020-09658-7. Epub 2021 Jan 12.

  PMID: 33433885 BACKGROUND

• Jha S, Simonds WF. Molecular and Clinical Spectrum of Primary Hyperparathyroidism. Endocr Rev. 2023 Sep 15;44(5):779-818. doi: 10.1210/endrev/bnad009.

  PMID: 36961765 BACKGROUND

• Perez-Rivas LG, Simon J, Albani A, Tang S, Roeber S, Assie G, Deutschbein T, Fassnacht M, Gadelha MR, Hermus AR, Stalla GK, Tichomirowa MA, Rotermund R, Flitsch J, Buchfelder M, Nasi-Kordhishti I, Honegger J, Thorsteinsdottir J, Saeger W, Herms J, Reincke M, Theodoropoulou M. TP53 mutations in functional corticotroph tumors are linked to invasion and worse clinical outcome. Acta Neuropathol Commun. 2022 Sep 19;10(1):139. doi: 10.1186/s40478-022-01437-1.

  PMID: 36123588 BACKGROUND

• Lin AL, Rudneva VA, Richards AL, Zhang Y, Woo HJ, Cohen M, Tisnado J, Majd N, Wardlaw SL, Page-Wilson G, Sengupta S, Chow F, Goichot B, Ozer BH, Dietrich J, Nachtigall L, Desai A, Alano T, Ogilive S, Solit DB, Bale TA, Rosenblum M, Donoghue MTA, Geer EB, Tabar V. Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors. Acta Neuropathol. 2024 May 17;147(1):85. doi: 10.1007/s00401-024-02736-8.

  PMID: 38758238 BACKGROUND

• Webster AP, Thirlwell C. The Molecular Biology of Midgut Neuroendocrine Neoplasms. Endocr Rev. 2024 May 7;45(3):343-350. doi: 10.1210/endrev/bnad034.

  PMID: 38123518 BACKGROUND

• Denes J, Swords F, Rattenberry E, Stals K, Owens M, Cranston T, Xekouki P, Moran L, Kumar A, Wassif C, Fersht N, Baldeweg SE, Morris D, Lightman S, Agha A, Rees A, Grieve J, Powell M, Boguszewski CL, Dutta P, Thakker RV, Srirangalingam U, Thompson CJ, Druce M, Higham C, Davis J, Eeles R, Stevenson M, O'Sullivan B, Taniere P, Skordilis K, Gabrovska P, Barlier A, Webb SM, Aulinas A, Drake WM, Bevan JS, Preda C, Dalantaeva N, Ribeiro-Oliveira A Jr, Garcia IT, Yordanova G, Iotova V, Evanson J, Grossman AB, Trouillas J, Ellard S, Stratakis CA, Maher ER, Roncaroli F, Korbonits M. Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. J Clin Endocrinol Metab. 2015 Mar;100(3):E531-41. doi: 10.1210/jc.2014-3399. Epub 2014 Dec 12.

  PMID: 25494863 BACKGROUND

• Xekouki P, Szarek E, Bullova P, Giubellino A, Quezado M, Mastroyannis SA, Mastorakos P, Wassif CA, Raygada M, Rentia N, Dye L, Cougnoux A, Koziol D, Sierra Mde L, Lyssikatos C, Belyavskaya E, Malchoff C, Moline J, Eng C, Maher LJ 3rd, Pacak K, Lodish M, Stratakis CA. Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. J Clin Endocrinol Metab. 2015 May;100(5):E710-9. doi: 10.1210/jc.2014-4297. Epub 2015 Feb 19.

  PMID: 25695889 BACKGROUND

• Persani L, de Filippis T, Colombo C, Gentilini D. GENETICS IN ENDOCRINOLOGY: Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks. Eur J Endocrinol. 2018 Sep;179(3):R111-R123. doi: 10.1530/EJE-18-0379. Epub 2018 Jun 7.

  PMID: 29880707 BACKGROUND

• Seabrook AJ, Harris JE, Velosa SB, Kim E, McInerney-Leo AM, Dwight T, Hockings JI, Hockings NG, Kirk J, Leo PJ, Love AJ, Luxford C, Marshall M, Mete O, Pennisi DJ, Brown MA, Gill AJ, Hockings GI, Clifton-Bligh RJ, Duncan EL. Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5? J Clin Endocrinol Metab. 2021 Mar 25;106(4):1163-1182. doi: 10.1210/clinem/dgaa957.

  PMID: 33367756 BACKGROUND

• Seabrook A, Wijewardene A, De Sousa S, Wong T, Sheriff N, Gill AJ, Iyer R, Field M, Luxford C, Clifton-Bligh R, McCormack A, Tucker K. MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations. J Clin Endocrinol Metab. 2022 Jul 14;107(8):2339-2349. doi: 10.1210/clinem/dgac162.

  PMID: 35323929 BACKGROUND

• Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML; Endocrine Society. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011. doi: 10.1210/jc.2012-1230. Epub 2012 Jun 20.

  PMID: 22723327 BACKGROUND

• Hernandez-Ramirez LC, Gabrovska P, Denes J, Stals K, Trivellin G, Tilley D, Ferrau F, Evanson J, Ellard S, Grossman AB, Roncaroli F, Gadelha MR, Korbonits M; International FIPA Consortium. Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers. J Clin Endocrinol Metab. 2015 Sep;100(9):E1242-54. doi: 10.1210/jc.2015-1869.

  PMID: 26186299 BACKGROUND

• Silva-Zolezzi I, Hidalgo-Miranda A, Estrada-Gil J, Fernandez-Lopez JC, Uribe-Figueroa L, Contreras A, Balam-Ortiz E, del Bosque-Plata L, Velazquez-Fernandez D, Lara C, Goya R, Hernandez-Lemus E, Davila C, Barrientos E, March S, Jimenez-Sanchez G. Analysis of genomic diversity in Mexican Mestizo populations to develop genomic medicine in Mexico. Proc Natl Acad Sci U S A. 2009 May 26;106(21):8611-6. doi: 10.1073/pnas.0903045106. Epub 2009 May 11.

  PMID: 19433783 BACKGROUND

• Ziyatdinov A, Torres J, Alegre-Diaz J, Backman J, Mbatchou J, Turner M, Gaynor SM, Joseph T, Zou Y, Liu D, Wade R, Staples J, Panea R, Popov A, Bai X, Balasubramanian S, Habegger L, Lanche R, Lopez A, Maxwell E, Jones M, Garcia-Ortiz H, Ramirez-Reyes R, Santacruz-Benitez R, Nag A, Smith KR, Damask A, Lin N, Paulding C, Reppell M, Zollner S, Jorgenson E, Salerno W, Petrovski S, Overton J, Reid J, Thornton TA, Abecasis G, Berumen J, Orozco-Orozco L, Collins R; Regeneron Genetics Center; Mexico City Prospective Study; Baras A, Hill MR, Emberson JR, Marchini J, Kuri-Morales P, Tapia-Conyer R. Genotyping, sequencing and analysis of 140,000 adults from Mexico City. Nature. 2023 Oct;622(7984):784-793. doi: 10.1038/s41586-023-06595-3. Epub 2023 Oct 11.

  PMID: 37821707 BACKGROUND

• Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

  PMID: 25741868 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

A 5 ml sample of peripheral blood obtained by phlebotomy will be collected in a tube with EDTA at recruitment and stored at 4°C until processing. Archival formalin-fixed paraffin-embedded tissues samples will be obtained for patients with previous tumor resection, and fresh frozen tissue samples will be obtained por individuals undergoing surgical tumor excision in the course of the study, when possible. DNA, and in selected cases, RNA, will be extracted from blood and tissue samples and will be stored at -20 °C or -80 °C, respectively, for the durantion of the study. A unique deidentified code for each participant will be used for sample labelling.

MeSH Terms

Conditions

Neuroendocrine Tumors; Adenoma, Islet Cell; Gastrointestinal Stromal Tumors; Carcinoma, Medullary; Paraganglioma; Pheochromocytoma; Hyperparathyroidism, Primary; Pituitary Neoplasms; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2a; Carney Complex; Carney-Stratakis Syndrome; Carney Triad; Hamartoma Syndrome, Multiple; Li-Fraumeni Syndrome; Colorectal Neoplasms, Hereditary Nonpolyposis; von Hippel-Lindau Disease; Pituitary Adenoma, Familial Isolated; Neurofibromatosis 1; Tuberous Sclerosis

Condition Hierarchy (Ancestors)

Neuroectodermal Tumors; Neoplasms, Germ Cell and Embryonal; Neoplasms by Histologic Type; Neoplasms; Neoplasms, Nerve Tissue; Adenoma; Neoplasms, Glandular and Epithelial; Pancreatic Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Endocrine Gland Neoplasms; Digestive System Diseases; Pancreatic Diseases; Endocrine System Diseases; Neoplasms, Connective Tissue; Neoplasms, Connective and Soft Tissue; Gastrointestinal Neoplasms; Gastrointestinal Diseases; Carcinoma, Neuroendocrine; Adenocarcinoma; Carcinoma; Neoplasms, Ductal, Lobular, and Medullary; Hyperparathyroidism; Parathyroid Diseases; Hypothalamic Neoplasms; Supratentorial Neoplasms; Brain Neoplasms; Central Nervous System Neoplasms; Nervous System Neoplasms; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hypothalamic Diseases; Pituitary Diseases; Multiple Endocrine Neoplasia; Neoplasms, Multiple Primary; Neoplastic Syndromes, Hereditary; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Myxoma; Heart Neoplasms; Thoracic Neoplasms; Heart Diseases; Cardiovascular Diseases; Abnormalities, Multiple; Congenital Abnormalities; Skin Abnormalities; Hamartoma; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Colorectal Neoplasms; Intestinal Neoplasms; Colonic Diseases; Intestinal Diseases; Neurocutaneous Syndromes; Angiomatosis; Vascular Diseases; Ciliopathies; Neurofibromatoses; Neurofibroma; Nerve Sheath Neoplasms; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Neuromuscular Diseases; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations

Study Officials

• Laura C Hernández Ramírez, MD, PhD

  Universidad Nacional Autonoma de Mexico

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Laura C Hernández Ramírez, MD, PhD

CONTACT

+525554870900; laura.hernandez@cic.unam.mx

Claudia Ramírez Rentería, MD, MSc

CONTACT

+525556276900; clau.r2000@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Associate Researcher C

Study Record Dates

• First Submitted: July 17, 2024
• First Posted: July 26, 2024
• Study Start: August 3, 2022
• Primary Completion (Estimated): March 1, 2037
• Study Completion (Estimated): March 1, 2037
• Last Updated: July 26, 2024

Record last verified: 2024-07

Locations

ME (3)