Mutación del gen de la menina: desde el hiperparatiroidismo familiar aislado a la neoplasia endocrina múltiple de tipo 1
Palabras clave:
menina, neoplasia endocrina múltiple, hiperparatiroidismo primario, prolactinoma, carcinoma neuroendocrinoResumen
La menina es una proteína supresora de tumor codificada por el gen MEN1, cuya mutación produce procesos neoplásicos en múltiples tejidos del organismo que pueden manifestarse por generaciones como síndromes familiares. La mutación genera un espectro de enfermedad que va desde el hiperparatiroidismo familiar aislado hasta la neoplasia endocrina múltiple de tipo 1, caracterizada por neoplasias de paratiroides, hipófisis anterior, páncreas endocrino y duodeno, entre otras.
Como ejemplo, se presentan dos casos de pacientes con neoplasias endocrinas secundarias a la mutación del gen MEN1. Se revisa la información actual sobre la etiopatogenia y carcinogénesis entendidos apenas recientemente, al igual que otras mutaciones involucradas en los síndromes neoplásicos expuestos y se dan unas recomendaciones finales.
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Referencias bibliográficas
1. BUSYGINA V, BALE AE. Multiple endocrine neoplasia type 1 (MEN1) as a cancer predisposition syndrome: Clues into the mechanisms of MEN1-related carcinogenesis. Yale J Biol Med. 2006;79:105-14.
2. CARDINAL JW, BERGMAN L, HAYWARD N, SWEET A, WARNER J, MARKS L, et al. A report of a national mutation testing service for the MEN1 gene: Clinical presentations and implications for mutation testing. J Med Genet. 2005;42:69-74.
https://doi.org/10.1136/jmg.2003.017319
3. CALLENDER GG, RICH TA, PERRIER ND. Multiple endocrine neo- plasia syndromes. Surg Clin North Am. 2008;88:863-95.
https://doi.org/10.1016/j.suc.2008.05.001
4. MARINI F, FALCHETTI A, DEL MONTE F, CARBONELL SALA S, GOZZINI A, LUZI E, et al. Multiple endocrine neoplasia type I. Orphanet J Rare Dis. 2006;1:38.
https://doi.org/10.1186/1750-1172-1-38
5. WOHLLK N, BECKER P, VÉLIZ J, PINEDA G. Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular. Rev Méd Chile 2000;128:791-800.
https://doi.org/10.4067/S0034-98872000000700014
6. QUEVEDO V, SOUTELO M, FARAJ G, LUTFI R. ¿NEM tipo 1 o una simple asociación entre dos adenomas hiperfuncionantes? Glánd Tir Paratir. 2009;18:28-32.
7. WHITE ML, DOHERTY GM. Multiple endocrine neoplasia. Surg Oncol Clin N Am. 2008;17:439-59.
https://doi.org/10.1016/j.soc.2007.12.002
8. VILLABLANCA A, CALENDER A, FORSBERG L, HÖÖG A, CHENG JD, PETILLO D, et al. Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 2004;41:e32.
https://doi.org/10.1136/jmg.2003.012369
9. WARNER J, NYHOLT D, BUSFIELD F, EPSTEIN M, BURGESS J, STRANKS S, et al. Familial isolated hyperparathyroidism is linked to a 1.7Mb region on chromosome 2p13.3-14. J Med Genet. 2006;43:e12.
https://doi.org/10.1136/jmg.2005.035766
10. PHAN A, YAO J. Neuroenocrine tumors: Current and future medical therapies. MedscapeCME Oncology; 2009. Fecha de consulta: septiembre de 2010. Disponible en http://cme.medscape.com/ viewarticle/709466.
11. JENSEN RT, BERNA MJ, BINGHAM DB, NORTON JA. Inherited pancreatic endocrine tumor syndromes: Advances in molecular pathogenesis, diagnosis, management, and controversies. Cancer. 2008;113(Suppl.):1807-43.
https://doi.org/10.1002/cncr.23648
12. BALOGH K, PATÓCS A, HUNYADY L, RÁCZ K. Menin dynamics and functional insight: Take your partners. Mol Cell Endocrinol. 2010;326:80-4.
https://doi.org/10.1016/j.mce.2010.04.011
13. FAINSTEIN P, FERNÁNDEZ T, MOCETTI E, SANTINO J, BALZARETTI M, KOZAK A, et al. Estudio de la correlación genotipo/fenotipo en la expresión de la menina en el páncreas tumoral y no tumoral de una paciente afectada por neoplasia endocrina múltiple tipo 1 (NEM1). Rev Arg Endocrinol Metab. 2007;4(Supl.):140.
14. THAKKER RV. Multiple endocrine neoplasia type 1 (MEN1). Best Pract Res Clin Endocrinol Metab. 2010;24:355-70.
https://doi.org/10.1016/j.beem.2010.07.003
15. WARNER J, EPSTEIN M, SWEET A, SINGH D, BURGESS J, STRANKS S, et al. Genetic testing in familial isolated hyperparathyroidism: Unexpected results and their implications. J Med Genet. 2004;41:155-60.
https://doi.org/10.1136/jmg.2003.016725
16. TSUKADA T, NAGAMURA Y, OHKURA N. MEN1 gene and its mutations: Basic and clinical implications. Cancer Sci. 2008 [Epub ahead of print].
https://doi.org/10.1111/j.1349-7006.2008.01034.x
17. WU X, HUA X. Menin, histone H3 methyltransferases, and regulation of cell roliferation: Current knowledge and perspective. Curr Mol Med. 2008;8:805-15.
https://doi.org/10.2174/156652408786733702
18. DREIJERINK K, LIPS C. Diagnosis and management of multiple endocrine neoplasia type 1 (MEN1). Hered Cancer Clin Pract. 2005;3:1-6.
https://doi.org/10.1186/1897-4287-3-1-1
19. MEJÍA O. La genética y la medicina predictiva. Implicaciones epistemológicas y consideraciones bioéticas. Acta Med Colomb. 2005;30:126-32.
20. LIPS J, LENTJES G, HÖPPENER W. Espectro de tumores y síndromes carcinoides. Acta Bioquím Clín Latinoam. 2004;38:47-59.
21. YANG Y, HUA X. In search of tumor suppressing functions of menin. Mol Cell Endocrinol. 2007;265-266;34-41.
https://doi.org/10.1016/j.mce.2006.12.032
22. SCHNEPP RW, CHEN YX, WANG H, CASH T, SILVA A, DIEHL JA, et al. Mutation of tumor suppressor gene MEN1 acutely enhances proliferation of pancreatic islet cells. Cancer Res. 2006;66:5707-15.
https://doi.org/10.1158/0008-5472.CAN-05-4518
23. CORBO V, DALAI I, SCARDONI M, BARBI S, BEGHELLI S, BERSANI S, et al. MEN1 in pancreatic endocrine tumors: Analysis of gene and protein status in 169 sporadic neoplasms reveals alterations in the vast majority of cases. Endocr Relat Cancer. 2010;17:771-83.
https://doi.org/10.1677/ERC-10-0028
24. LA P, YANG Y, KARNIK SK, SILVA AC, SCHNEPP RW, KIM SK, et al. Menin-mediated caspase 8 expression in suppressing multiple endocrine neoplasia type 1. J Biol Chem. 2007;282:31332-40.
https://doi.org/10.1074/jbc.M609555200
25. HOWELL VM, HAVEN CJ, KAHNOSKI K, KHOO SK, PETILLO D, CHEN J, et al. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet. 2003;40:657-63.
https://doi.org/10.1136/jmg.40.9.657
26. ELARAJ DM, CLARK OH. Current status and treatment of primary hyperparathyroidism. Perm J Winter. 2008;12:32-37.
https://doi.org/10.7812/TPP/07-091
27. KIHARA M, MIYAUCHI A, ITO Y, YOSHIDA H, MIYA A, KOBAYASHI K, et al. MEN1 gene analysis in patients with primary hyperparathyroidism: 10-year experience of a single institution for thyroid and parathyroid care in Japan. Endocr J. 2009;56:649-56.
https://doi.org/10.1507/endocrj.K08E-265
28. HOWELL V, CARDINAL J, RICHARDSON A, MARSH D. Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism. J Mol Diagn. 2006;8:559-66.
https://doi.org/10.2353/jmoldx.2006.060015
29. KANDIL E, ALABBAS HH, LUM YW, TUFARO AP. Familial isolated primary hyperparathyroidism with double adenoma. South Med J. 2010;103:236-8.
https://doi.org/10.1097/SMJ.0b013e3181d0fe11
30. MIZUSAWA N, UCHINO S, IWATA T, TSUYUGUCHI M, SUZUKI Y, MIZUKOSHI T, et al. Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol (Oxford). 2006;65:9-16.
https://doi.org/10.1111/j.1365-2265.2006.02534.x
31. SIMONDS W, JAMES-NEWTON L, AGARWAL S, YANG B, SKARULIS M, HENDY G, et al. Familial isolated hyperparathyroidism. Clinical and genetic characteristics of 36 kindreds. Medicine. 2002;81:1- 26.
https://doi.org/10.1097/00005792-200201000-00001
32. TEH BT, FARNEBO F, TWIGG S, HÖÖG A, KYTÖLÄ S, KORPI-HYÖVÄLTI E, et al. Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families. J Clin Endocrinol Metab. 1998;83:2114-20.
https://doi.org/10.1210/jc.83.6.2114
33. SHARRETTS JM, SIMONDS WF. Clinical and molecular genetics of parathyroid neoplasms. Best Pract Res Clin Endocrinol Metab. 2010;24:491-502.
https://doi.org/10.1016/j.beem.2010.01.003
34. WESTIN G, BJÖRKLUND P, AKERSTRÖM G. Molecular genetics of parathyroid disease. World J Surg. 2009;33:2224-33.
https://doi.org/10.1007/s00268-009-0022-6
35. GEORGITSI M, RAITILA A, KARHU A, VAN DER LUIJT RB, AALFS CM, SANE T, et al. Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab. 2007;92:3321-5.
https://doi.org/10.1210/jc.2006-2843
36. HAASE M, ANLAUF M, SCHOTT M, SCHINNER S, KAMINSKY E, SCHERBAUM WA, et al. A new mutation in the menin gene causes the multiple endocrine neoplasia type 1 syndrome with adrenocortical carcinoma. Endocrine. 2010 Nov 11. [Epub ahead of print]
https://doi.org/10.1007/s12020-010-9424-3
37. AGARWAL SK, MATEO CM, MARX SJ. Rare germline mutations in cyclin-dependent kinase inhibitors genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab. 2009;94:1826-34.
https://doi.org/10.1210/jc.2008-2083
38. IGREJA S, CHAHAL HS, AKKER SA, GUEORGUIEV M, POPOVIC V, DAMJANOVIC S, et al. Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations. Clin Endocrinol (Oxford). 2009;70:259-64.
https://doi.org/10.1111/j.1365-2265.2008.03379.x
39. PELLEGATA NS, QUINTANILLA-MARTÍNEZ L, SIGGELKOW H, SAMSON E, BINK K, HÖFLER H, et al. Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci USA. 2006;103:15558-63.
https://doi.org/10.1073/pnas.0603877103
40. MARINONI I, PELLEGATA NS. p27kip1: A new multiple endocrine neoplasia gene? Neuroendocrinology. 2010 Oct 27. [Epub ahead of print]
https://doi.org/10.1159/000320366
41. MOLATORE S, MARINONI I, LEE M, PULZ E, AMBROSIO MR, DEGLI UBERTI EC, et al. A novel germline CDKN1B mutation causing multiple endocrine tumors: Clinical, genetic and functional characterization. Hum Mutat. 2010;31:E1825-35.
https://doi.org/10.1002/humu.21354
42. PIGNY P, CARDOT-BAUTERS C. Genetics of pheochromocytoma and paraganglioma: new developments. Ann Endocrinol (Paris). 2010;71:76-82.
https://doi.org/10.1016/j.ando.2009.11.004
43. FILOCAMO M, REGIS S, MAZZOTTI R, PARENTI G, STROPPIANO M, GATTI R. A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene. J Med Genet 2001;38:e34.
https://doi.org/10.1136/jmg.38.10.e34
44. FALCHETTI A. Genetic screening for multiple endocrine neoplasia syndrome type 1 (MEN-1): When and how. F1000 Med Rep. 2010;2.pii:14.
https://doi.org/10.3410/M2-14
45. MCDERMOTT U, DOWNING JR, STRATTON MR. Genomics and the continuum of cancer care. N Engl J Med. 2011;364:335-40.
https://doi.org/10.1056/NEJMra0907178
2. CARDINAL JW, BERGMAN L, HAYWARD N, SWEET A, WARNER J, MARKS L, et al. A report of a national mutation testing service for the MEN1 gene: Clinical presentations and implications for mutation testing. J Med Genet. 2005;42:69-74.
https://doi.org/10.1136/jmg.2003.017319
3. CALLENDER GG, RICH TA, PERRIER ND. Multiple endocrine neo- plasia syndromes. Surg Clin North Am. 2008;88:863-95.
https://doi.org/10.1016/j.suc.2008.05.001
4. MARINI F, FALCHETTI A, DEL MONTE F, CARBONELL SALA S, GOZZINI A, LUZI E, et al. Multiple endocrine neoplasia type I. Orphanet J Rare Dis. 2006;1:38.
https://doi.org/10.1186/1750-1172-1-38
5. WOHLLK N, BECKER P, VÉLIZ J, PINEDA G. Neoplasias endocrinas múltiples: un modelo clínico para aplicar técnicas de genética molecular. Rev Méd Chile 2000;128:791-800.
https://doi.org/10.4067/S0034-98872000000700014
6. QUEVEDO V, SOUTELO M, FARAJ G, LUTFI R. ¿NEM tipo 1 o una simple asociación entre dos adenomas hiperfuncionantes? Glánd Tir Paratir. 2009;18:28-32.
7. WHITE ML, DOHERTY GM. Multiple endocrine neoplasia. Surg Oncol Clin N Am. 2008;17:439-59.
https://doi.org/10.1016/j.soc.2007.12.002
8. VILLABLANCA A, CALENDER A, FORSBERG L, HÖÖG A, CHENG JD, PETILLO D, et al. Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 2004;41:e32.
https://doi.org/10.1136/jmg.2003.012369
9. WARNER J, NYHOLT D, BUSFIELD F, EPSTEIN M, BURGESS J, STRANKS S, et al. Familial isolated hyperparathyroidism is linked to a 1.7Mb region on chromosome 2p13.3-14. J Med Genet. 2006;43:e12.
https://doi.org/10.1136/jmg.2005.035766
10. PHAN A, YAO J. Neuroenocrine tumors: Current and future medical therapies. MedscapeCME Oncology; 2009. Fecha de consulta: septiembre de 2010. Disponible en http://cme.medscape.com/ viewarticle/709466.
11. JENSEN RT, BERNA MJ, BINGHAM DB, NORTON JA. Inherited pancreatic endocrine tumor syndromes: Advances in molecular pathogenesis, diagnosis, management, and controversies. Cancer. 2008;113(Suppl.):1807-43.
https://doi.org/10.1002/cncr.23648
12. BALOGH K, PATÓCS A, HUNYADY L, RÁCZ K. Menin dynamics and functional insight: Take your partners. Mol Cell Endocrinol. 2010;326:80-4.
https://doi.org/10.1016/j.mce.2010.04.011
13. FAINSTEIN P, FERNÁNDEZ T, MOCETTI E, SANTINO J, BALZARETTI M, KOZAK A, et al. Estudio de la correlación genotipo/fenotipo en la expresión de la menina en el páncreas tumoral y no tumoral de una paciente afectada por neoplasia endocrina múltiple tipo 1 (NEM1). Rev Arg Endocrinol Metab. 2007;4(Supl.):140.
14. THAKKER RV. Multiple endocrine neoplasia type 1 (MEN1). Best Pract Res Clin Endocrinol Metab. 2010;24:355-70.
https://doi.org/10.1016/j.beem.2010.07.003
15. WARNER J, EPSTEIN M, SWEET A, SINGH D, BURGESS J, STRANKS S, et al. Genetic testing in familial isolated hyperparathyroidism: Unexpected results and their implications. J Med Genet. 2004;41:155-60.
https://doi.org/10.1136/jmg.2003.016725
16. TSUKADA T, NAGAMURA Y, OHKURA N. MEN1 gene and its mutations: Basic and clinical implications. Cancer Sci. 2008 [Epub ahead of print].
https://doi.org/10.1111/j.1349-7006.2008.01034.x
17. WU X, HUA X. Menin, histone H3 methyltransferases, and regulation of cell roliferation: Current knowledge and perspective. Curr Mol Med. 2008;8:805-15.
https://doi.org/10.2174/156652408786733702
18. DREIJERINK K, LIPS C. Diagnosis and management of multiple endocrine neoplasia type 1 (MEN1). Hered Cancer Clin Pract. 2005;3:1-6.
https://doi.org/10.1186/1897-4287-3-1-1
19. MEJÍA O. La genética y la medicina predictiva. Implicaciones epistemológicas y consideraciones bioéticas. Acta Med Colomb. 2005;30:126-32.
20. LIPS J, LENTJES G, HÖPPENER W. Espectro de tumores y síndromes carcinoides. Acta Bioquím Clín Latinoam. 2004;38:47-59.
21. YANG Y, HUA X. In search of tumor suppressing functions of menin. Mol Cell Endocrinol. 2007;265-266;34-41.
https://doi.org/10.1016/j.mce.2006.12.032
22. SCHNEPP RW, CHEN YX, WANG H, CASH T, SILVA A, DIEHL JA, et al. Mutation of tumor suppressor gene MEN1 acutely enhances proliferation of pancreatic islet cells. Cancer Res. 2006;66:5707-15.
https://doi.org/10.1158/0008-5472.CAN-05-4518
23. CORBO V, DALAI I, SCARDONI M, BARBI S, BEGHELLI S, BERSANI S, et al. MEN1 in pancreatic endocrine tumors: Analysis of gene and protein status in 169 sporadic neoplasms reveals alterations in the vast majority of cases. Endocr Relat Cancer. 2010;17:771-83.
https://doi.org/10.1677/ERC-10-0028
24. LA P, YANG Y, KARNIK SK, SILVA AC, SCHNEPP RW, KIM SK, et al. Menin-mediated caspase 8 expression in suppressing multiple endocrine neoplasia type 1. J Biol Chem. 2007;282:31332-40.
https://doi.org/10.1074/jbc.M609555200
25. HOWELL VM, HAVEN CJ, KAHNOSKI K, KHOO SK, PETILLO D, CHEN J, et al. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet. 2003;40:657-63.
https://doi.org/10.1136/jmg.40.9.657
26. ELARAJ DM, CLARK OH. Current status and treatment of primary hyperparathyroidism. Perm J Winter. 2008;12:32-37.
https://doi.org/10.7812/TPP/07-091
27. KIHARA M, MIYAUCHI A, ITO Y, YOSHIDA H, MIYA A, KOBAYASHI K, et al. MEN1 gene analysis in patients with primary hyperparathyroidism: 10-year experience of a single institution for thyroid and parathyroid care in Japan. Endocr J. 2009;56:649-56.
https://doi.org/10.1507/endocrj.K08E-265
28. HOWELL V, CARDINAL J, RICHARDSON A, MARSH D. Rapid mutation screening for HRPT2 and MEN1 mutations associated with familial and sporadic primary hyperparathyroidism. J Mol Diagn. 2006;8:559-66.
https://doi.org/10.2353/jmoldx.2006.060015
29. KANDIL E, ALABBAS HH, LUM YW, TUFARO AP. Familial isolated primary hyperparathyroidism with double adenoma. South Med J. 2010;103:236-8.
https://doi.org/10.1097/SMJ.0b013e3181d0fe11
30. MIZUSAWA N, UCHINO S, IWATA T, TSUYUGUCHI M, SUZUKI Y, MIZUKOSHI T, et al. Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol (Oxford). 2006;65:9-16.
https://doi.org/10.1111/j.1365-2265.2006.02534.x
31. SIMONDS W, JAMES-NEWTON L, AGARWAL S, YANG B, SKARULIS M, HENDY G, et al. Familial isolated hyperparathyroidism. Clinical and genetic characteristics of 36 kindreds. Medicine. 2002;81:1- 26.
https://doi.org/10.1097/00005792-200201000-00001
32. TEH BT, FARNEBO F, TWIGG S, HÖÖG A, KYTÖLÄ S, KORPI-HYÖVÄLTI E, et al. Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families. J Clin Endocrinol Metab. 1998;83:2114-20.
https://doi.org/10.1210/jc.83.6.2114
33. SHARRETTS JM, SIMONDS WF. Clinical and molecular genetics of parathyroid neoplasms. Best Pract Res Clin Endocrinol Metab. 2010;24:491-502.
https://doi.org/10.1016/j.beem.2010.01.003
34. WESTIN G, BJÖRKLUND P, AKERSTRÖM G. Molecular genetics of parathyroid disease. World J Surg. 2009;33:2224-33.
https://doi.org/10.1007/s00268-009-0022-6
35. GEORGITSI M, RAITILA A, KARHU A, VAN DER LUIJT RB, AALFS CM, SANE T, et al. Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab. 2007;92:3321-5.
https://doi.org/10.1210/jc.2006-2843
36. HAASE M, ANLAUF M, SCHOTT M, SCHINNER S, KAMINSKY E, SCHERBAUM WA, et al. A new mutation in the menin gene causes the multiple endocrine neoplasia type 1 syndrome with adrenocortical carcinoma. Endocrine. 2010 Nov 11. [Epub ahead of print]
https://doi.org/10.1007/s12020-010-9424-3
37. AGARWAL SK, MATEO CM, MARX SJ. Rare germline mutations in cyclin-dependent kinase inhibitors genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab. 2009;94:1826-34.
https://doi.org/10.1210/jc.2008-2083
38. IGREJA S, CHAHAL HS, AKKER SA, GUEORGUIEV M, POPOVIC V, DAMJANOVIC S, et al. Assessment of p27 (cyclin-dependent kinase inhibitor 1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes in multiple endocrine neoplasia (MEN1) syndrome patients without any detectable MEN1 gene mutations. Clin Endocrinol (Oxford). 2009;70:259-64.
https://doi.org/10.1111/j.1365-2265.2008.03379.x
39. PELLEGATA NS, QUINTANILLA-MARTÍNEZ L, SIGGELKOW H, SAMSON E, BINK K, HÖFLER H, et al. Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci USA. 2006;103:15558-63.
https://doi.org/10.1073/pnas.0603877103
40. MARINONI I, PELLEGATA NS. p27kip1: A new multiple endocrine neoplasia gene? Neuroendocrinology. 2010 Oct 27. [Epub ahead of print]
https://doi.org/10.1159/000320366
41. MOLATORE S, MARINONI I, LEE M, PULZ E, AMBROSIO MR, DEGLI UBERTI EC, et al. A novel germline CDKN1B mutation causing multiple endocrine tumors: Clinical, genetic and functional characterization. Hum Mutat. 2010;31:E1825-35.
https://doi.org/10.1002/humu.21354
42. PIGNY P, CARDOT-BAUTERS C. Genetics of pheochromocytoma and paraganglioma: new developments. Ann Endocrinol (Paris). 2010;71:76-82.
https://doi.org/10.1016/j.ando.2009.11.004
43. FILOCAMO M, REGIS S, MAZZOTTI R, PARENTI G, STROPPIANO M, GATTI R. A simple non-isotopic method to show pitfalls during mutation analysis of the glucocerebrosidase gene. J Med Genet 2001;38:e34.
https://doi.org/10.1136/jmg.38.10.e34
44. FALCHETTI A. Genetic screening for multiple endocrine neoplasia syndrome type 1 (MEN-1): When and how. F1000 Med Rep. 2010;2.pii:14.
https://doi.org/10.3410/M2-14
45. MCDERMOTT U, DOWNING JR, STRATTON MR. Genomics and the continuum of cancer care. N Engl J Med. 2011;364:335-40.
https://doi.org/10.1056/NEJMra0907178
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2011-04-01
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Taboada, L. B.; Vera, A.; Kattah, W.; López, R.; Medina, V. L.; González D. Mutación Del Gen De La Menina: Desde El Hiperparatiroidismo Familiar Aislado a La Neoplasia Endocrina múltiple De Tipo 1. Rev Colomb Cir 2011, 26, 118-130.
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