Algün E, Abaci N, Kösem M, Kotan C, Köseoğlu B, Boztepe H, Sekeroğlu R, Aslan H, Topal C, Ayakta H, Uygan I, Alagöl F, Erginel-Unaltuna N, Aksoy H
Yüzüncü Yil University, School of Medicine, Department of Endocrinology, Van, Turkey.
J Endocrinol Invest. 2002 Jul-Aug;25(7):603-8. doi: 10.1007/BF03345083.
MEN-2A is characterized by medullary thyroid carcinoma (MTC) with pheochromocytoma and sometimes parathyroid adenoma. In affected members of the family, the risk of MTC is about 100%. Biochemical screening allows tumors to be detected early but even at this stage treatment is not always curative. Missense mutations in exon 10 and 11 of the RET proto-oncogene are associated with MEN-2A. Early detection of this mutation by DNA analysis allows the identification of the carriers of the gene. We performed genetic screening in 88 members of an extended family with MEN-2A and found 18 members positive for RET mutation (Cys634Gly). Only three of these 18 RET positive cases had a previous diagnosis of medullary cancer and/or pheochromocytoma. Up to now, 12 of the RET positive cases have undergone thyroidectomy. There was extended disease with cervical lymph node metastasis in 6 of them, bilateral medullary microcancer in 3 and c-cell hyperplasia in the remaining 3. Three of the 18 RET positive patients had also pheochromocytoma. Primary hyperparathyroidism was present in only one patient. The mean age of diagnosis of medullary cancer was between 25-50 yr and mean age of death was between 35-95 yr in affected members of the family. The family had many other affected members in other cities in Turkey and in other countries throughout the world from Australia to the Netherlands. So this family is perhaps one of the most extended families with MEN-2A.
MEN-2A的特征是甲状腺髓样癌（MTC）伴嗜铬细胞瘤，有时还伴有甲状旁腺腺瘤。在该家族的患病成员中，MTC的发病风险约为100%。生化筛查可早期检测到肿瘤，但即便在这个阶段，治疗也并非总能治愈。RET原癌基因第10和11外显子的错义突变与MEN-2A相关。通过DNA分析早期检测到这种突变可识别该基因的携带者。我们对一个患有MEN-2A的大家庭的88名成员进行了基因筛查，发现18名成员RET突变（Cys634Gly）呈阳性。这18例RET阳性病例中只有3例先前被诊断为髓样癌和/或嗜铬细胞瘤。截至目前，18例RET阳性病例中有12例接受了甲状腺切除术。其中6例有广泛病变并伴有颈部淋巴结转移，3例有双侧甲状腺髓样微小癌，其余3例有C细胞增生。18例RET阳性患者中有3例也患有嗜铬细胞瘤。仅1例患者存在原发性甲状旁腺功能亢进。该家族中髓样癌的平均诊断年龄在25至50岁之间，受影响成员的平均死亡年龄在35至95岁之间。这个家族在土耳其的其他城市以及从澳大利亚到荷兰的世界其他国家还有许多其他受影响的成员。所以这个家族可能是患有MEN-2A的最庞大的家族之一。
