Age-related probability of development of hereditary medullary thyroid carcinoma.
Age-related probability of development of hereditary medullary thyroid carcinoma.
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遗传性甲状腺髓样癌发生年龄相关的概率。
DOI：
10.1016/s0022-3476(82)80014-0
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发表时间：
1982
期刊：
影响因子：
--
通讯作者：
TashjianJr,AH
中科院分区：
文献类型：
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作者：
Gagel,RF;Jackson,CE;Block,MA;Feldman,ZT;Reichlin,S;Hamilton,BP;TashjianJr,AH
遗传性甲状腺髓样癌是常染色体显性遗传；受影响父母的每个孩子在出生时都有 50% 的机会患上这种疾病。事实证明，在刺激性钙或五肽胃泌素刺激后测量血浆降钙素浓度有助于该疾病的早期诊断。为了确定激发试验从阴性转为阳性的与年龄相关的风险，对 11 个家族的 445 名成员进行了序贯试验研究。在 159 名出生时患甲状腺髓样癌风险为 50% 的家庭成员中，有 38 人的检测结果从阴性转为阳性（平均转变年龄为 15 岁）。通过先前描述的用于确定发生亨廷顿舞蹈病的年龄相关概率的方法，我们提出了一种用于确定发生甲状腺髓样癌的概率的方法。检测结果为阴性的高危个体日后检测结果转为阳性的概率如下：年龄（岁）/概率，0/0.5； 5/0.49； 10/0.41； 15/0.25； 20/0.16； 25/0.10； 30/0.05；和 35/0。我们的结论是，遗传性甲状腺髓样癌在儿科年龄组中可以定期检测到，筛查应从 5 岁开始，并定期持续到 35 岁。
Hereditary medullary thyroid carcinoma is inherited as an autosomal dominant trait; at birth each child of an affected parent has a 50% chance of developing the disease. Measurement of plasma calcitonin concentrations after provocative calcium or pentagastrin stimulation has proved useful in the early diagnosis of this disease. To determine the age-related risk of conversion from a negative to a positive provocative test, 445 members of 11 kindreds were studied with sequential tests. Of 159 family members with a 50% risk at birth of developing medullary thyroid carcinoma 38 converted from a negative to a positive test result (mean age of conversion was 15 years). By means of methods previously described for determining the age-related probability for developing Huntington chorea, we present a method for determining the probability of development of medullary thyroid carcinoma. An individual at risk whose test result was negative had the following probability of converting to a positive test result at a later date: age (years)/probability, 0/0.5; 5/0.49; 10/0.41; 15/0.25; 20/0.16; 25/0.10; 30/0.05; and 35/0. We conclude that hereditary medullary thyroid carcinoma is regularly detectable in the pediatric age group and that screening should begin by age 5 years and be continued at regular intervals until age 35.