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MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE

MedGen UID:
864723
•Concept ID:
C4016286
•
Neoplastic Process
OMIM®: 164761

Professional guidelines

PubMed

Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.
Frank-Raue K, Raue F
Recent Results Cancer Res 2015;204:139-56. doi: 10.1007/978-3-319-22542-5_6. PMID: 26494387
Multiple endocrine neoplasia type 2: recent progress in diagnosis and management.
Heshmati HM, Hofbauer LC
Eur J Endocrinol 1997 Dec;137(6):572-8. doi: 10.1530/eje.0.1370572. PMID: 9437218
Multiple endocrine neoplasia type II and familial medullary thyroid carcinoma. Impact of genetic screening on management.
Gagel RF
Cancer Treat Res 1997;89:421-41. doi: 10.1007/978-1-4615-6355-6_20. PMID: 9204204

Recent clinical studies

Etiology

New mutations associated with Hirschsprung disease.
Lorente-Ros M, Andrés AM, Sánchez-Galán A, Amiñoso C, García S, Lapunzina P, Solera-García J
An Pediatr (Engl Ed) 2020 Oct;93(4):222-227. Epub 2020 Jan 31 doi: 10.1016/j.anpede.2019.05.007. PMID: 34092334
Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.
Frank-Raue K, Raue F
Recent Results Cancer Res 2015;204:139-56. doi: 10.1007/978-3-319-22542-5_6. PMID: 26494387
The Hirschsprung's-multiple endocrine neoplasia connection.
Moore SW, Zaahl M
Clinics (Sao Paulo) 2012;67 Suppl 1(Suppl 1):63-7. doi: 10.6061/clinics/2012(sup01)12. PMID: 22584708Free PMC Article
Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.
Moore SW, Zaahl MG
Pediatr Surg Int 2008 May;24(5):521-30. Epub 2008 Mar 26 doi: 10.1007/s00383-008-2137-5. PMID: 18365214
RET mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease.
Reynolds LF, Eng C
Curr Opin Pediatr 1995 Dec;7(6):702-9. doi: 10.1097/00008480-199512000-00014. PMID: 8776023

Diagnosis

Timely diagnosis of multiple endocrine neoplasia 2B by identification of intestinal ganglioneuromatosis: a case series.
van den Broek MFM, Rijks EBG, Nikkels PGJ, Wolters VM, van Es RJJ, van Santen HM, van Nesselrooij BPM, Vriens MR, van Leeuwaarde RS, Valk GD, Verrijn Stuart AA
Endocrine 2021 Jun;72(3):905-914. Epub 2021 Jan 21 doi: 10.1007/s12020-021-02607-2. PMID: 33474713Free PMC Article
Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.
Frank-Raue K, Raue F
Recent Results Cancer Res 2015;204:139-56. doi: 10.1007/978-3-319-22542-5_6. PMID: 26494387
The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.
Coyle D, Friedmacher F, Puri P
Pediatr Surg Int 2014 Aug;30(8):751-6. Epub 2014 Jun 28 doi: 10.1007/s00383-014-3538-2. PMID: 24972642
Multiple endocrine neoplasias type 2B and RET proto-oncogene.
Martucciello G, Lerone M, Bricco L, Tonini GP, Lombardi L, Del Rossi CG, Bernasconi S
Ital J Pediatr 2012 Mar 19;38:9. doi: 10.1186/1824-7288-38-9. PMID: 22429913Free PMC Article
Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.
Moore SW, Zaahl MG
Pediatr Surg Int 2008 May;24(5):521-30. Epub 2008 Mar 26 doi: 10.1007/s00383-008-2137-5. PMID: 18365214

Therapy

The Hirschsprung's-multiple endocrine neoplasia connection.
Moore SW, Zaahl M
Clinics (Sao Paulo) 2012;67 Suppl 1(Suppl 1):63-7. doi: 10.6061/clinics/2012(sup01)12. PMID: 22584708Free PMC Article

Prognosis

New mutations associated with Hirschsprung disease.
Lorente-Ros M, Andrés AM, Sánchez-Galán A, Amiñoso C, García S, Lapunzina P, Solera-García J
An Pediatr (Engl Ed) 2020 Oct;93(4):222-227. Epub 2020 Jan 31 doi: 10.1016/j.anpede.2019.05.007. PMID: 34092334
The Hirschsprung's-multiple endocrine neoplasia connection.
Moore SW, Zaahl M
Clinics (Sao Paulo) 2012;67 Suppl 1(Suppl 1):63-7. doi: 10.6061/clinics/2012(sup01)12. PMID: 22584708Free PMC Article
Multiple endocrine neoplasias type 2B and RET proto-oncogene.
Martucciello G, Lerone M, Bricco L, Tonini GP, Lombardi L, Del Rossi CG, Bernasconi S
Ital J Pediatr 2012 Mar 19;38:9. doi: 10.1186/1824-7288-38-9. PMID: 22429913Free PMC Article
Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.
Moore SW, Zaahl MG
Pediatr Surg Int 2008 May;24(5):521-30. Epub 2008 Mar 26 doi: 10.1007/s00383-008-2137-5. PMID: 18365214
RET and neuroendocrine tumors.
Murakumo Y, Jijiwa M, Asai N, Ichihara M, Takahashi M
Pituitary 2006;9(3):179-92. doi: 10.1007/s11102-006-0263-4. PMID: 17036197

Clinical prediction guides

Hereditary Medullary Thyroid Cancer Genotype-Phenotype Correlation.
Frank-Raue K, Raue F
Recent Results Cancer Res 2015;204:139-56. doi: 10.1007/978-3-319-22542-5_6. PMID: 26494387
Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.
Moore SW, Zaahl MG
Pediatr Surg Int 2008 May;24(5):521-30. Epub 2008 Mar 26 doi: 10.1007/s00383-008-2137-5. PMID: 18365214
The RET proto-oncogene: a challenge to our understanding of disease pathogenesis.
Kusafuka T, Puri P
Pediatr Surg Int 1997;12(1):11-8. doi: 10.1007/BF01194794. PMID: 9035202
Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease.
Borst MJ, VanCamp JM, Peacock ML, Decker RA
Surgery 1995 Apr;117(4):386-91. doi: 10.1016/s0039-6060(05)80057-1. PMID: 7716719
Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes and Hirschsprung disease.
Smith DP, Eng C, Ponder BA
J Cell Sci Suppl 1994;18:43-9. doi: 10.1242/jcs.1994.supplement_18.6. PMID: 7883791

Recent systematic reviews

The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.
Coyle D, Friedmacher F, Puri P
Pediatr Surg Int 2014 Aug;30(8):751-6. Epub 2014 Jun 28 doi: 10.1007/s00383-014-3538-2. PMID: 24972642

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