Endocrine Unit, Department of Clinical and Experimental Medicine, University Hospital of Pisa, 56124 Pisa, Italy.
Diagnostic and Interventional Radiology, Department of Translational Research and New Technologies in Medicine and Surgery, University Hospital of Pisa, 56124 Pisa, Italy.
J Clin Endocrinol Metab. 2017 Sep 1;102(9):3091-3096. doi: 10.1210/jc.2017-00304.
The diffuse sclerosing variant of papillary thyroid cancer (DSV-PTC) is a rare variant of papillary thyroid cancer (PTC) with different clinicopathological features compared with conventional PTC.
An advanced DSV-PTC was diagnosed in a 39-year-old man. The radioiodine posttherapeutic whole-body-scan showed only an uptake in the central neck, whereas the computerized tomography showed multiple latero-cervical and mediastinum lymph node metastases, a single and spiculated lung lesion and multiple bilateral cerebellum metastases. The patient died after 6 months from the initial diagnosis. The histological revision of the thyroid tumor confirmed the diagnosis of DSV-PTC, and its molecular analysis revealed a KIF5B/RET rearrangement that, until now, was described only in a minority of lung adenocarcinoma. Other 18 cases of DSV-PTC were then studied for the presence of KIF5B/RET rearrangement, but all of them were negative.
This was a case of DSV-PTC positive for KIF5B/RET rearrangement, but considering that this alteration has been described only in lung adenocarcinoma and that the clinical course was more typical of lung carcinoma, we cannot completely rule out the possibility that this was a metastatic lesion from a lung tumor mimicking a DSV-PTC. As an alternative, we can also hypothesize that this was a case of fusion of two tumoral tissues deriving from a DSV-PTC and a metastasis of a KIF5B/RET positive lung adenocarcinoma. The question of whether the molecular findings, particularly when specifically reported only in some subtypes of human tumors, can overcome the morphological diagnosis is a matter of discussion.
弥漫硬化型甲状腺乳头状癌（DSV-PTC）是甲状腺乳头状癌（PTC）的一种罕见变异型，与传统 PTC 相比具有不同的临床病理特征。
一名 39 岁男性被诊断为晚期弥漫硬化型甲状腺乳头状癌。放射性碘治疗后全身扫描仅显示中央颈部摄取，而计算机断层扫描显示多个侧颈部和纵隔淋巴结转移，单个且有刺状的肺病变和多个双侧小脑转移。患者从最初诊断后 6 个月死亡。甲状腺肿瘤的组织学修订确认了 DSV-PTC 的诊断，其分子分析显示 KIF5B/RET 重排，迄今为止，这种重排仅在少数肺腺癌中描述过。随后对其他 18 例 DSV-PTC 进行了 KIF5B/RET 重排的检测，但均为阴性。
这是一例 KIF5B/RET 重排阳性的弥漫硬化型甲状腺乳头状癌病例，但考虑到这种改变仅在肺腺癌中描述过，且临床过程更典型于肺癌，我们不能完全排除这是来自肺肿瘤的转移病变，模拟弥漫硬化型甲状腺乳头状癌的可能性。作为一种替代方案，我们还可以假设这是源自 DSV-PTC 和 KIF5B/RET 阳性肺腺癌转移的两种肿瘤组织融合的病例。分子发现，特别是当仅在某些人类肿瘤亚型中具体报告时，是否能够克服形态学诊断，这是一个值得讨论的问题。
