Lessons to be learned from the clinical management of a MEN 2A patient bearing a novel 634/640/700 mutation of the RET proto-oncogene

Clinical Endocrinology

Volumn 77, Issue 6, 2012, Pages 934-936

  Conzo, Giovanni ^a   Circelli, Luisa ^b,c   Pasquali, Daniela ^a   Sinisi, Antonio ^a   Sabatino, Lina ^c,d   Accardo, Giacomo ^a   Renzullo, Andrea ^a   Santini, Luigi ^a   Salvatore, Francesco ^b,c   Colantuoni, Vittorio ^c,d  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY OF SANNIO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENALIN; ALANINE; ARGININE; CALCITONIN; CATECHOLAMINE; CYSTEINE; GLYCINE; NORADRENALIN; PROTEIN RET;

ADRENALECTOMY; ADULT; AMINO ACID SUBSTITUTION; CALCITONIN BLOOD LEVEL; CANCER PATIENT; CASE REPORT; CATECHOLAMINE EXCRETION; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEADACHE; HETEROZYGOTE; HUMAN; HYPERTENSION; LAPAROTOMY; LETTER; LIVER METASTASIS; POSTOPERATIVE CARE; PRIORITY JOURNAL; PROTO ONCOGENE; SIPPLE SYNDROME; TACHYCARDIA;

EID: 84869007895     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2012.04412.x     Document Type: Letter

References (5)

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3. Tessitore, A., Sinisi, A.A., Pasquali, D., et al,. (1999) A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. Journal of Clinical Endocrinology and Metabolism, 84, 3522-3527. (Pubitemid 30645200)
4. Martinelli, P., Margotti, G.M., Pasquali, D., et al,. (2004) Genetic prenatal RET testing and pregnancy management of multiple endocrine neoplasia Type II A (MEN2): a case report. Journal of Endocrinological Investigation, 27, 357-360. (Pubitemid 38744615)
5. Toledo, R.A., Wagner, S.M., Coutinho, F.L., et al,. (2010) High penetrance of pheocromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protoncogene. Journal of Clinical Endocrinology and Metabolism, 95, 1318-1327.