Naciu Anda Mihaela, Verri Martina, Crescenzi Anna, Taffon Chiara, Longo Filippo, Frasca Luca, Tabacco Gaia, Monte Lavinia, Palermo Andrea, Crucitti Pierfilippo, Cesareo Roberto
Unit of Endocrinology and Diabetes, Campus Bio-Medico Univerity of Rome, Rome, Italy.
Unit of Pathology, Campus Bio-Medico Univerity of Rome, Rome, Italy.
Endocrinol Diabetes Metab Case Rep. 2021 Jan 27;2021. doi: 10.1530/EDM-20-0184.
We present the case of a 47-year-old Caucasian previously healthy woman with a voluminous thyroid nodule occupying almost the entire anterior neck region. The lesion had progressively increased in size during the previous 3 months and the patient presented intermittent symptoms of dysphagia and odynophagia with a slight change in voice. Fine needle aspiration showed papillary carcinoma. Based on imaging and cytological findings, the patient underwent total thyroidectomy. The surgical sample revealed a totally enlarged thyroid gland (weight: 208 g) with the presence of a poly-lobulated lesion centrally located and involving the isthmus and both lobes. Hobnail features were present in more than 30% of the neoplastic cells in agreement with the criteria for this subtype. Psammoma bodies and focal necrosis were also present. The extra-thyroidal extension included strap muscles and peri-esophageal glands. Immunohistochemistry using VE1 antibody for detecting BRAF-V600E mutation resulted positive. The final diagnosis was papillary thyroid carcinoma (PTC) hobnail variant (HVPTC)-pT4a. The HVPTC is a rare entity and, in most cases, appears like a unifocal lesion with a maximum tumor size of 8 cm reported so far. To our knowledge, this represents the largest tumor ever described (14 cm), showing rapid growth and with multinodular goiter-like aspect.
HVPTC is an aggressive variant of PTC, usually associated with radioactive iodine refractoriness, and a higher mortality rate compared to classic PTC. However, there is a marked individual variability in this association. HVPTC usually appears as small unifocal lesion but a multinodular goiter presentation may occur. The present case highlights that despite of the histology, our patient achieved a high ablation success rate after radioactive iodine therapy.
我们报告了一例47岁的白种女性病例,该女性此前身体健康,其甲状腺结节巨大,几乎占据了整个颈部前区。在过去3个月中,该病变大小逐渐增大,患者出现间歇性吞咽困难、吞咽疼痛症状,声音略有改变。细针穿刺显示为乳头状癌。基于影像学和细胞学检查结果,患者接受了甲状腺全切除术。手术标本显示甲状腺完全肿大(重量:208克),中央有一个多叶状病变,累及峡部和双侧叶。超过30%的肿瘤细胞呈现鞋钉样特征,符合该亚型的标准。还存在砂粒体和局灶性坏死。甲状腺外侵犯包括带状肌和食管周围腺体。使用VE1抗体检测BRAF-V600E突变的免疫组化结果呈阳性。最终诊断为甲状腺乳头状癌(PTC)鞋钉样变异型(HVPTC)-pT4a。HVPTC是一种罕见的实体,在大多数情况下,表现为单灶性病变,迄今为止报道的最大肿瘤大小为8厘米。据我们所知,这是有史以来描述的最大肿瘤(14厘米),生长迅速,具有多结节性甲状腺肿样外观。
HVPTC是PTC的侵袭性变异型,通常与放射性碘难治性相关,与经典PTC相比死亡率更高。然而,这种关联存在明显的个体差异。HVPTC通常表现为小的单灶性病变,但也可能出现多结节性甲状腺肿表现。本病例突出表明,尽管组织学类型如此,但我们的患者在放射性碘治疗后仍获得了较高的消融成功率。