Unidad de Cirugía Endocrina, Cirugía General y del Apartado Digestivo, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain; Digestive, Endocrine and Trasplant Group, Instituto Murciano de Investigación Biosanitaria Pascual Parrilla (IMIB_Pascual Parrilla), Murcia, Spain; General Surgery Department, Universidad de Murcia, Murcia, Spain.
Servicio de Anatomía Patológica, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
Surgery. 2024 Sep;176(3):708-712. doi: 10.1016/j.surg.2024.06.005. Epub 2024 Jul 6.
Cowden syndrome is an autosomal-dominant disorder caused by a germline phosphatase and tensin homolog mutation, giving rise to several tumors with an aggressive clinical course. In the thyroid, there are certain histologic criteria that could be related to this syndrome that could be useful for its early detection. We sought to analyze the loss of phosphatase and tensin homolog in thyroid histologic pieces with certain histologic criteria and to determine the percentage of patients diagnosed with Cowden syndrome with this methodology.
Five hundred thirty-five thyroid specimens collected were retrospectively analyzed (2017-2020). Those samples that presented certain histologic criteria were studied for loss of phosphatase and tensin homolog expression. Patients with loss of expression underwent a clinical study to rule out dermatologic or other lesions compatible with Cowden syndrome. Patients with positive clinical study were referred for genetic study.
The phosphatase and tensin homolog study was performed in 6.7% (n = 36) of the thyroidectomy samples, showing loss of expression in 22% (n = 8); the most frequent histologic finding was the presence of multiple monomorphous adenomatous nodules. The samples with loss of expression showed more diffuse oncocytic changes. Of the 8 patients with loss of expression, 5 showed dermatologic lesions that could be associated with Cowden syndrome and 1 had a history of macrocephaly. These patients were referred for genetic study, being positive for Cowden syndromein in one quarter of the cases (n = 2).
The immunohistochemical study of phosphatase and tensin homolog in pieces of thyroidectomies with histologic criteria suggestive of Cowden syndrome can help in its early diagnosis.
Cowden 综合征是一种常染色体显性遗传疾病，由种系磷酸酶和张力蛋白同源突变引起，导致多种具有侵袭性临床病程的肿瘤。在甲状腺中，存在某些组织学标准可能与该综合征有关，这对于其早期发现可能是有用的。我们试图分析具有某些组织学标准的甲状腺组织学切片中磷酸酶和张力蛋白同源物的缺失，并确定使用这种方法诊断 Cowden 综合征的患者百分比。
回顾性分析了 535 例甲状腺标本（2017-2020 年）。对具有某些组织学标准的样本进行磷酸酶和张力蛋白同源物表达缺失的研究。表达缺失的患者进行临床研究以排除与 Cowden 综合征相符的皮肤病或其他病变。具有阳性临床研究的患者被转介进行基因研究。
在 6.7%（n=36）的甲状腺切除术样本中进行了磷酸酶和张力蛋白同源物研究，显示 22%（n=8）表达缺失；最常见的组织学发现是存在多个单形性腺瘤结节。表达缺失的样本显示更弥漫的嗜酸细胞变化。在 8 名表达缺失的患者中，有 5 名患者存在可能与 Cowden 综合征相关的皮肤病损，1 名患者有大头畸形病史。这些患者被转介进行基因研究，其中四分之一（n=2）的病例检测出 Cowden 综合征阳性。
对具有 Cowden 综合征组织学标准的甲状腺切除术标本进行磷酸酶和张力蛋白同源物的免疫组织化学研究有助于其早期诊断。
