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*GENOTYPE PHENOTYPE CORRELATION IN AN AUSTRALASIAN MEDULLARY THYROID CANCER
Author(s) -
Sywak M.,
Abraham D. T.,
Messina M.,
Sidhu S. B.,
Robinson B. G.,
Delbridge L.
Publication year - 2009
Publication title -
anz journal of surgery
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.426
H-Index - 70
eISSN - 1445-2197
pISSN - 1445-1433
DOI - 10.1111/j.1445-2197.2009.04916_16.x
Subject(s) - medicine , medullary thyroid cancer , lymph node , calcitonin , oncology , genetic testing , genotype , cohort , disease , gastroenterology , medullary cavity , thyroid cancer , thyroid , gene , genetics , biology
Purpose: The aim of this study is to review the genotype‐ phenotype correlation in patients with medullary thyroid cancer in an Australian cohort. Methodology: Patients were identified from a prospectively maintained surgical database. Clinical features of tumour size, pre‐operative calcitonin, rate of lymph node metastases, disease free survival, tumour recurrence, RET mutations, were statistically assessed using the Stata software package. Results: Eighty patients were identified between 1967 and 2006. Fifty‐three had sporadic MTC (sMTC) and 27 had familial MTC (fMTC). Significant difference p < 0.05 to p < 0.001 between the two groups was found in the following features: tumour size, pre‐operative serum calcitonin, rate of lymph node metastases where sMTC was consistently higher when compared to fMTC. In addition, disease‐free survival were significantly different between the two groups (81% in fMTC vs. 72% in sMTC, p = 0.041). The review of genetic mutations in RET revealed that the 5 year disease free survival for patients with codon 804 mutations was greater than for those with codon 618, 620 and 634 mutations, considered low and intermediate risk groups respectively. Since the introduction of genetic testing, patients with fMTC were detected at an earlier stage with smaller tumour size (13.0 mm vs. 26.0 mm, p = 0.0038), less lymph node metastasis (33% vs. 47%) and better 5 year disease free survival (81% vs. 72% years). Conclusion: Patients with familial form of MTC had better outcome compared to the sporadic counterpart. The type of RET gene mutation influenced the outcome of patients with fMTC. Work on an additional genetic marker that may assist in further disease prognosis and better risk stratification is in progress.