Section of Endocrinology and Metabolism, Department of Medical, Surgical and Neurological Sciences, University of Siena, Policlinico Santa Maria alle Scotte, Viale Bracci 1, 53100, Siena, Italy.
J Endocrinol Invest. 2019 Oct;42(10):1205-1213. doi: 10.1007/s40618-019-01039-0. Epub 2019 Mar 29.
An increased aggressiveness of familial papillary thyroid carcinoma (FPTC) compared with sporadic form has been reported. On the contrary, the biological behavior of familial microPTC (FmPTC) is still debated. To assess if familial diseases should be considered as a negative prognostic factor in mPTC, the clinical presentation and outcome of FmPTC and sporadic mPTC (SmPTC) were compared.
We retrospectively analyzed 291 mPTC (SmPTC n = 248, FmPTC n = 43) patients followed for a median follow-up of 8.3 years. FmPTC was defined as the presence of PTC in two or more first-degree relatives, after excluding hereditary syndromes associated with PTC.
FmPTC patients had more frequently bilateral tumor (32.6% versus 16.5%, p = 0.01) and lymph node metastases at diagnosis (30.2% versus 14.9%, p = 0.02). At the first follow-up, FmPTC patients had a higher rate of structural disease and a lower rate of remission compared to SmPTC (p = 0.01). Also in a multivariate model, using a "CHAID tree-building algorithm", familial disease correlated with a worse clinical presentation and outcome of mPTC patients. Familial disease was associated with a higher rate of intermediate risk patients in non incidental mPTC and with a higher rate of structural incomplete response in mPTC without lymph node metastases (p = 0.01).
Like in macroPTC, the familial form of the diseases has been shown to be a negative prognostic factor also in mPTC, therefore, it should be highly regarded in the management of mPTC patients.
与散发性甲状腺乳头状癌（SPTC）相比，家族性甲状腺乳头状癌（FPTC）的侵袭性更强。相反，家族性微小甲状腺乳头状癌（FmPTC）的生物学行为仍存在争议。为了评估家族性疾病是否应被视为 mPTC 的不良预后因素，我们比较了 FmPTC 和 SPTC 的临床表现和结局。
我们回顾性分析了 291 例 mPTC（SPTC n=248 例，FmPTC n=43 例）患者，中位随访时间为 8.3 年。FmPTC 的定义为两个或两个以上一级亲属存在 PTC，排除与 PTC 相关的遗传性综合征后。
FmPTC 患者更常发生双侧肿瘤（32.6%比 16.5%，p=0.01）和诊断时淋巴结转移（30.2%比 14.9%，p=0.02）。在首次随访时，与 SmPTC 相比，FmPTC 患者结构性疾病发生率更高，缓解率更低（p=0.01）。在多变量模型中，使用“CHAID 树构建算法”，家族性疾病与 mPTC 患者的不良临床表现和结局相关。家族性疾病与非偶发性 mPTC 中中间风险患者的发生率较高相关，与无淋巴结转移的 mPTC 中结构性不完全缓解的发生率较高相关（p=0.01）。
与宏 PTC 一样，家族性疾病在 mPTC 中也被证明是一个不良预后因素，因此在 mPTC 患者的管理中应高度重视。
