Diagnostic and Surgical Dilemmas in Hereditary Medullary Thyroid Carcinoma

被引：4

作者：

Allen, Shawn M. ^{[1
]}

Bodenner, Donald ^{[2
,3
]}

Suen, James Y. ^{[1
]}

Richter, Gresham T. ^{[1
]}

机构：

[1] Univ Arkansas Med Sci, Dept Otolaryngol Head & Neck Surg, Little Rock, AR 72205 USA

[2] Univ Arkansas Med Sci, Dept Geriatr, Little Rock, AR 72205 USA

[3] Cent Arkansas VA Med Ctr, Little Rock, AR USA

来源：

LARYNGOSCOPE | 2009年 / 119卷 / 07期

关键词：

Medullary thyroid carcinoma; familial medullar thyroid carcinoma; hereditary medullary thyroid carcinoma; diagnosis; therapy; dilemmas; MULTIPLE ENDOCRINE NEOPLASIA; NEEDLE-ASPIRATION-CYTOLOGY; SERUM CALCITONIN; ROUTINE MEASUREMENT; PREOPERATIVE DIAGNOSIS; RET PROTOONCOGENE; FOLLOW-UP; CANCER; MANAGEMENT; MUTATIONS;

D O I：

10.1002/lary.20299

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Medullary thyroid carcinoma (MTC) is a rare malignancy arising from the parafollicular C cells within the thyroid gland. The majority of cases are sporadic, but at least 30% are hereditary in nature. Inherited forms of MTC occur as familial MTC or as a manifestation of multiple endocrine neoplasia type 2. Early diagnosis and aggressive surgical management, including prophylactic thyroidectomy, improve the prognosis of patients with hereditary MTC. Several issues regarding the diagnosis and treatment of MTC remain controversial. Genetic penetrance and virulence are variable. We present an index case of familial MTC to illustrate common difficulties in the initial diagnosis and dilemmas in the surgical approach, followed by a review of current literature relevant to the management of hereditary MTC.

引用

页码：1303 / 1311

页数：9

共 69 条

[1] Medullary thyroid cancer: Monitoring and therapy [J].

Ball, Douglas W. .

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA, 2007, 36 (03) :823-+

[2] Prognostic impact of serum calcitonin and carcinoembryonic antigen doubling-times in patients with medullary thyroid carcinoma [J].

Barbet, J ;

Campion, L ;

Kraeber-Bodéré, F ;

Chatal, JF .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (11) :6077-6084

[3] Role of FNA cytology immunochemistry in the diagnosis and management of medullary thyroid carcinoma:: Report of six cases and review of the literature [J].

Bhanot, Punam ;

Yang, Jack ;

Schnadig, Vicki J. ;

Logrono, Roberto .

DIAGNOSTIC CYTOPATHOLOGY, 2007, 35 (05) :285-292

[4] POTENT VASODILATOR ACTIVITY OF CALCITONIN GENE-RELATED PEPTIDE IN HUMAN-SKIN [J].

BRAIN, SD ;

TIPPINS, JR ;

MORRIS, HR ;

MACINTYRE, I ;

WILLIAMS, TJ .

JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1986, 87 (04) :533-536

[5] Guidelines for diagnosis and therapy of MEN type 1 and type 2 [J].

Brandi, ML ;

Gagel, RF ;

Angeli, A ;

Bilezikian, JP ;

Beck-Peccoz, P ;

Bordi, C ;

Conte-Devolx, B ;

Falchetti, A ;

Gheri, RG ;

Libroia, A ;

Lips, CJM ;

Lombardi, G ;

Mannelli, M ;

Pacini, F ;

Pondder, BAJ ;

Raue, F ;

Skogseid, B ;

Tamburrano, G ;

Thakker, RV ;

Thompson, NW ;

Tomassetti, P ;

Tonelli, F ;

Wells, SA ;

Marx, SJ .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (12) :5658-5671

[6] Molecular analysis of the RET proto-oncogene in patients with sporadic medullary thyroid carcinoma: A novel point mutation in the extracellular cysteine-rich domain [J].

Bugalho, MJ ;

Frade, JP ;

Santos, JR ;

Limbert, E ;

Sobrinho, L .

EUROPEAN JOURNAL OF ENDOCRINOLOGY, 1997, 136 (04) :423-426

[7] Preoperative diagnosis of medullary thyroid carcinoma: Fine needle aspiration cytology as compared with serum calcitonin measurement [J].

Bugalho, MJM ;

Santos, JR ;

Sobrinho, L .

JOURNAL OF SURGICAL ONCOLOGY, 2005, 91 (01) :56-60

[8] Calcitonin measurement in the evaluation of thyroid nodules in the United States: A cost-effectiveness and decision analysis [J].

Cheung, Kevin ;

Roman, Sanziana A. ;

Wang, Tracy S. ;

Walker, Hugh D. ;

Sosa, Julie Ann .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2008, 93 (06) :2173-2180

[9] Long-term clinical and biochemical follow-up in medullary thyroid carcinoma -: A single institution's experience over 20 years [J].

Cupisti, Kenko ;

Wolf, Achim ;

Raffel, Andreas ;

Schott, Matthias ;

Miersch, Daniel ;

Yang, Qin ;

Eisenberger, Claus F. ;

Roeher, Hans D. ;

Knoefel, Wolfram T. .

ANNALS OF SURGERY, 2007, 246 (05) :815-821

[10] The RET mutation E768D confers a late-onset Familial medullary thyroid carcinoma - only phenotype with incomplete penetrance: Implications for screening and management of carrier status [J].

Dabir, Tabib ;

Hunter, Steven J. ;

Russell, Colin F. J. ;

McCall, Damien ;

Morrison, Patrick J. .

FAMILIAL CANCER, 2006, 5 (02) :201-204

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