Naslov
Clinical utility of the genetic analysis in medullary thyroid carcinoma (MTC)

Autori
Dabelić, Nina ; Lechpammer, Stanislav ; Mateša, Neven ; Gall-Trošelj, Koraljka ; Pavelić, Krešimir ; Kusić, Zvonko

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Book of Abstracts: Third International Congress of the Croatian Society of Nuclear Medicine / - , 1999, 25-25

Skup
Third International Congress of the Croatian Society of Nuclear Medicine

Mjesto i datum
Opatija, Hrvatska, 10.05.1999. - 12.05.1999

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Clinical utility of the genetic analysis in medullary thyroid carcinoma (MTC)

Sažetak
In last 20 years, 33 patients (pts) with MTC were treated and followed-up at the “Sestre milosrdnice” U. H. (4,2% of all thyroid carcinomas). Female (18/33) to male (15/33) ratio was 1,2:1. In all pts total thyroidectomy was performed; while 10/33 (30,3%) have had also neck dissection. All diagnoses were obtained patho-histologically. The mean age at diagnosis in females was 51,5 yrs (26 to 83 yrs) and in males 46 yrs (13 to 63 yrs). The mean follow-up was 4,5 years. The follow-up protocol routinely included: physical examination, chest x-ray, USG of the neck and abdomen, measurements of T4, T3, TSH and calcitonin levels. After surgery, 42,9% pts had elevated calcitonin (>10 ng/mL), while 57,1% pts were within the normal range. If clinically indicated, CT, bone scintigraphy and other nuclear medicine procedures (i.e. imaging with 99mTc-DMSA, 131I-MIBG, and 99mTc-MIBI) were performed. Recently, a direct molecular analysis of ret protooncogene in exons 10, 11, 13 and 16, using the PCR, was initiated as part of diagnostic evaluation of MTC pts. Till now, 13 (39%) pts were analysed. In 9 (69%), no sign of inherited, "germline" mutation was found. In one pt (whose father had died of MTC), MEN-2B syndrome was confirmed although he had no signs of other symptoms connected to this syndrome. In one pt, genetic analysis raised the suspicion of MEN-2A or FMTC, leading to clinical diagnosis of pheochromocytoma; pointing to MEN-2A. One pt had mutation in the tumor but not in blood DNA, indicating a mosaic mutation affecting thyroid tissue but not blood cells. In conclusion; clinically 30 pts (91%) were classified as sporadic MTC, 2 pts (a father and a son) as MEN-2B; which was confirmed in son by genetic analysis as well. PCR analysis alone pointed to MEN-2A or FMTC in another pt, where additional diagnostic evaluation confirmed MEN-2A. Our first results encourage further clinical use of genetic analysis of MTC pts, not only for prevention of disease in family members but also as valuable tool in clinical management of their cancer.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita

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