Zirilli L, Benatti P, Romano S, Roncucci L, Rossi G, Diazzi C, Carani C, Ponz De Leon M, Rochira V
Integrated Department of Medicine, Endocrinology and Metabolism, and Geriatrics, University of Modena and Reggio Emilia, Ospedale S. Agostino-Estense di Baggiovara, Via Giardini 1355, Baggiovara, Modena, Italy.
Exp Clin Endocrinol Diabetes. 2009 May;117(5):234-9. doi: 10.1055/s-0028-1102920. Epub 2009 Feb 20.
Peutz-Jeghers Syndrome (PJS) is a rare dominantly inherited disease characterized by hamartomatous small bowel polyposis, mucocutaneous hyperpigmentation, and increased risk of cancer. Differentiated thyroid cancers (DTCs) present mainly as sporadic, but they may have also a familial component. We present a case of PJS in a caucasian 25 years-old woman, who developed a DTC.
The patient had a palpable nodule in the right side of the thyroid region and an endocrinological evaluation, including hormonal assays, neck ultrasound (US) and fine needle aspiration (FNAB) of the nodule was performed.
US confirmed a single nodular lesion in the right thyroid lobe (14 mm). Cytological analysis at FNAB revealed a pattern compatible with papillary thyroid carcinoma. The histological analysis after total thyroidectomy confirmed the diagnosis of a Hurtle cell variant of papillary thyroid carcinoma, with follicular architecture.
Even though rare, the association between PJS and DTC can be possible. In clinical practice it must be borne in mind that the wide spectrum of possible cancer diseases occurring in PJS could also include DTC, that the latter can occur earlier in life in PJS population and with a more aggressive histological pattern. Furthermore, in patients with PJS, US of the thyroid should be performed whenever thyroid disease is suspected at physical examination or based on patient's medical history. Due to lack of established data allowing for a real esteem of the association between PJS and DTC, US of the thyroid, should not be recommended as a routine screening for all subjects with PJS.
黑斑息肉综合征（PJS）是一种罕见的常染色体显性遗传病，其特征为错构瘤性小肠息肉病、黏膜皮肤色素沉着以及癌症风险增加。分化型甲状腺癌（DTC）主要表现为散发性，但也可能有家族性因素。我们报告一例25岁白种女性患PJS并发生DTC的病例。
该患者甲状腺区域右侧可触及一个结节，进行了内分泌评估，包括激素检测、颈部超声（US）以及对该结节的细针穿刺抽吸活检（FNAB）。
超声证实右侧甲状腺叶有一个单一的结节性病变（14毫米）。FNAB的细胞学分析显示一种与甲状腺乳头状癌相符的模式。全甲状腺切除术后的组织学分析证实为甲状腺乳头状癌的许特耳细胞变体诊断，具有滤泡结构。
尽管罕见，但PJS与DTC之间可能存在关联。在临床实践中必须牢记，PJS中可能出现的广泛癌症疾病谱也可能包括DTC，后者在PJS人群中可能更早发生且具有更具侵袭性的组织学模式。此外，对于PJS患者，每当根据体格检查或患者病史怀疑有甲状腺疾病时，都应进行甲状腺超声检查。由于缺乏确定的数据来真正评估PJS与DTC之间的关联，不建议将甲状腺超声作为所有PJS患者的常规筛查。
