2006
DOI: 10.1007/s00508-006-0636-8
|View full text |Cite
|
Sign up to set email alerts
|

Hereditary medullary thyroid cancer in Slovenia – genotype-phenotype correlations

Abstract: Correlation between tumor size, stage of MTC at diagnosis in view of patient's age, and specific genotype were indicated in our limited series and were more evident in female patients with codon 790 mutations. Later onset and a probably less aggressive course of MTC in these patients than in patients with other mutations should be considered in planning prophylactic thyroid surgery. MEN2A syndrome was related solely to codon 634 mutations.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
2
1

Citation Types

4
16
1
1

Year Published

2011
2011
2018
2018

Publication Types

Select...
6

Relationship

0
6

Authors

Journals

citations
Cited by 22 publications
(22 citation statements)
references
References 30 publications
4
16
1
1
Order By: Relevance
“…Our data is in concordance with 38-52% of the reports on inheritance of RET gene mutations in MEN 2A, FMTC and MEN 2B family members (Frilling et al 1995;Bergant et al 2006).…”
Section: Discussionsupporting
confidence: 95%
See 2 more Smart Citations
“…Our data is in concordance with 38-52% of the reports on inheritance of RET gene mutations in MEN 2A, FMTC and MEN 2B family members (Frilling et al 1995;Bergant et al 2006).…”
Section: Discussionsupporting
confidence: 95%
“…Further, multiple exon mutations in individual patients were also reported by the authors. The presence of multiple mutations, and high percentage of mutations in spontaneous MTCs, has not been frequently observed (Frilling et al 1995;Sánchez et al 1999;Klein et al 2001;Jindrichová et al 2004;Kameyama et al 2004;Bergant et al 2006). We also did not observe multiple mutations and mutations in sporadic MTC patients in our study, in accordance with earlier studies on various European sample groups.…”
Section: Discussionsupporting
confidence: 93%
See 1 more Smart Citation
“…However, their study strongly supported that the screening for pheochromocytoma in MEN 2A family members should be done starting at 10 years of age. MEN2A cases with C634G mutation and consisting of MTC with pheochromocytoma are very rarely presented in literature, with one case in France [24], one in Italy [16], and two in Slovenia [25]. Our patient presented with a level 2 RET mutation, which is considered to confer an intermediate risk for earlier development of MTC (along with codons 611, 618, and 620) [26].…”
Section: Test (Units)mentioning
confidence: 72%
“…Approximately 25 % of MTC represents inherited disease, while the rest is as a sporadic tumor [1][2][3][4]. MTC originates from the parafollicular cells (C cells) and produces the hormone calcitonin.…”
Section: Introductionmentioning
confidence: 99%