Unresolved issues in the genesis and management of multiple endocrine neoplasia type 2

被引：3

作者：

Gagel, RF

机构：

来源：

HORMONE AND METABOLIC RESEARCH | 1997年 / 29卷 / 03期

关键词：

RET proto-oncogene; medullary thyroid carcinoma; multiple endocrine neoplasia pentogastrin;

D O I：

10.1055/s-2007-979006

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

It has been slightly less than 3 years since mutations of the RET proto-oncogene were identified in multiple endocrine neoplasia type 2. The period since the initial report has been one of intense activity with a wide spectrum of mutations identified in exons 10, 11, 13, 14, 15 and 16 of this gene. Recent studies have provided experimental evidence for an activating effect of the exon 11 and 16 mutations. Two questions are addressed in this report: the high rate of false positive tests in prospective screening studies and the implications for future interpretation of this test: and the mechanism of transformation in MEN 2.

引用

页码：135 / 137

页数：3

共 31 条

[1]

ASAI N, 1995, MOL CELL BIOL, V15, P1613

[2]

BUHR HJ, 1990, EUR J SURG ONCOL, V16, P366

[3]

CARLSON KM, 1994, AM J HUM GENET, V55, P1076

[4] CYTOGENETIC CHARACTERIZATION OF 3 HUMAN AND 3 RAT MEDULLARY-THYROID CARCINOMA CELL-LINES [J].

COOLEY, LD ;

ELDER, FFB ;

KNUTH, A ;

GAGEL, RF .

CANCER GENETICS AND CYTOGENETICS, 1995, 80 (02) :138-149

[5] PROGRESS IN GENETIC SCREENING OF MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A - IS CALCITONIN TESTING OBSOLETE [J].

DECKER, RA ;

PEACOCK, ML ;

BORST, MJ ;

SWEET, JD ;

THOMPSON, NW .

SURGERY, 1995, 118 (02) :257-264

[6] MUTATIONS IN THE RET PROTOONCOGENE ARE ASSOCIATED WITH MEN 2A AND FMTC [J].

DONISKELLER, H ;

DOU, SS ;

CHI, D ;

CARLSON, KM ;

TOSHIMA, K ;

LAIRMORE, TC ;

HOWE, JR ;

MOLEY, JF ;

GOODFELLOW, P ;

WELLS, SA .

HUMAN MOLECULAR GENETICS, 1993, 2 (07) :851-856

[7] MUTATION OF THE RET PROTOONCOGENE IN SPORADIC MEDULLARY-THYROID CARCINOMA [J].

ENG, C ;

MULLIGAN, LM ;

SMITH, DP ;

HEALEY, CS ;

FRILLING, A ;

RAUE, F ;

NEUMANN, HPH ;

PFRAGNER, R ;

BEHMEL, A ;

LORENZO, MJ ;

STONEHOUSE, TJ ;

PONDER, MA ;

PONDER, BAJ .

GENES CHROMOSOMES & CANCER, 1995, 12 (03) :209-212

[8] Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype [J].

FrankRaue, K ;

Hoppner, W ;

Frilling, A ;

Kotzerke, J ;

Dralle, H ;

Haase, R ;

Mann, K ;

Seif, F ;

Kirchner, R ;

Rendl, J ;

Deckart, HF ;

Ritter, MM ;

Hampel, R ;

Klempa, J ;

Scholz, GH ;

Raue, F ;

Bogner, U ;

Brabant, G ;

Grussendorf, M ;

Hartenstein, CH ;

Heidemann, P ;

Hensen, J ;

Dorr, AG ;

Hohne, T ;

HornigFranz, I ;

Hufner, M ;

Kress, I ;

Langer, HJ ;

Lottermoser, K ;

Schweikert, HU ;

Kusterer, K ;

Menken, U ;

Mercier, J ;

Oelkers, W ;

Ziegler, R .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (05) :1780-1783

[9] THE CLINICAL OUTCOME OF PROSPECTIVE SCREENING FOR MULTIPLE ENDOCRINE NEOPLASIA TYPE-2A - AN 18-YEAR EXPERIENCE [J].

GAGEL, RF ;

TASHJIAN, AH ;

CUMMINGS, T ;

PAPATHANASOPOULOS, N ;

KAPLAN, MM ;

DELELLIS, RA ;

WOLFE, HJ ;

REICHLIN, S .

NEW ENGLAND JOURNAL OF MEDICINE, 1988, 318 (08) :478-484

[10] CLINICAL USE OF MOLECULAR INFORMATION IN THE MANAGEMENT OF MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A [J].

GAGEL, RF ;

COTE, GJ ;

BUGALHO, MJGM ;

BOYD, AE ;

CUMMINGS, T ;

GOEPFERT, H ;

EVANS, DB ;

CANGIR, A ;

KHORANA, S ;

SCHULTZ, PN .

JOURNAL OF INTERNAL MEDICINE, 1995, 238 (04) :333-341

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