Al-Yahri Omer, Abdelaal Abdelrahman, El Ansari Walid, Farghaly Hanan, Murshed Khaled, Zirie Mahmoud A, Al Hassan Mohamed S
Department of General Surgery, Hamad General Hospital, Doha, Qatar.
Department of Surgery, Hamad General Hospital, Doha, Qatar; College of Medicine, Qatar University, Doha, Qatar; School of Health and Education, University of Skövde, Skövde, Sweden.
Int J Surg Case Rep. 2020;70:40-52. doi: 10.1016/j.ijscr.2020.04.025. Epub 2020 May 5.
The hobnail variant of papillary thyroid cancer (PTC) is rare. Intrathyroid parathyroid adenoma (ITPA) is also rare. Co-ocurrence of PTC and ITPA in the same thyroid lobe is extremely rare. Likewise, primary hyperparathyroidism with such non-medullary thyroid carcinoma is rare. The specific molecular profile of hobnail PTC (HPTC) is different from the classic, poorly differentiated and anaplastic variants and may contribute to its aggressive behavior. HPTC's genetic profile remains unclear.
A 61-year-old woman presented to our endocrine clinic with generalized aches, bone pain, polyuria, and right neck swelling of a few months' duration. Laboratory findings revealed hypercalcemia and hyperparathyroidism. Ultrasound of the neck showed 4.6 cm complex nodule within the right thyroid lobe. Sestamibi scan suggested parathyroid adenoma in the right thyroid lobe. Fine-needle aspiration (FNA) revealed atypical follicular lesion of undetermined significance. She underwent right lobectomy, which normalized the intraoperative intact parathyroid hormone levels. Final pathology with immunohistochemical stains demonstrated HPTC and IPTA (2 cm each). Next-generation sequencing investigated the mutation spectrum of HPTC and detected BRAFV600E mutation.
A parathyroid adenoma should not exclude the diagnosis of thyroid carcinoma. Thyroid evaluation is needed for patients with primary hyperparathyroidism to prevent missing concurrent thyroid cancers. Cytomorphologic features to distinguish thyroid from parathyroid cells on FNA cytology must be considered. Immunohistochemical stains are important. BRAFV600E is the most common mutation in HPTC. This is possibly the first reported case of HPTC and ITPA co-occurring within the same thyroid lobe. Studies that define other molecular abnormalities may be useful as therapeutic targets.
甲状腺乳头状癌（PTC）的鞋钉样变体很罕见。甲状腺内甲状旁腺腺瘤（ITPA）也很罕见。PTC和ITPA在同一甲状腺叶中共存极为罕见。同样，原发性甲状旁腺功能亢进合并此类非髓样甲状腺癌也很罕见。鞋钉样PTC（HPTC）的特定分子特征不同于经典、低分化和间变性变体，可能导致其侵袭性生物学行为。HPTC的基因特征仍不清楚。
一名61岁女性因持续数月的全身疼痛、骨痛、多尿和右颈部肿胀就诊于我们的内分泌诊所。实验室检查发现高钙血症和甲状旁腺功能亢进。颈部超声显示右甲状腺叶内有一个4.6厘米的复杂结节。锝-99m甲氧基异丁基异腈扫描提示右甲状腺叶甲状旁腺腺瘤。细针穿刺（FNA）显示意义不明确的非典型滤泡性病变。她接受了右叶切除术，术中完整甲状旁腺激素水平恢复正常。最终病理及免疫组化染色显示为HPTC和ITPA（均为2厘米）。二代测序研究了HPTC的突变谱，检测到BRAFV600E突变。
甲状旁腺腺瘤不应排除甲状腺癌的诊断。原发性甲状旁腺功能亢进患者需要进行甲状腺评估，以防止漏诊并发的甲状腺癌。FNA细胞学检查中区分甲状腺细胞和甲状旁腺细胞的细胞形态学特征必须予以考虑。免疫组化染色很重要。BRAFV600E是HPTC中最常见的突变。这可能是首例报道的HPTC和ITPA在同一甲状腺叶内共存的病例。确定其他分子异常的研究可能作为治疗靶点具有重要意义。
