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经细胞学诊断为不典型性甲状腺炎(de Quervain),而 Afirma Genomic Sequencing Classifier 怀疑为癌症。

Atypical de Quervain's thyroiditis diagnosed as atypia of undetermined significance by cytology and suspicious for cancer by Afirma Genomic Sequencing Classifier.

机构信息

Division of Endocrinology, UCLA David Geffen School of Medicine, Los Angeles, California, USA.

Department of Pathology, UCLA David Geffen School of Medicine, Los Angeles, California, USA.

出版信息

Diagn Cytopathol. 2021 Aug;49(8):E312-E315. doi: 10.1002/dc.24733. Epub 2021 Mar 3.

Abstract

We report a case of atypical de Quervain's thyroiditis diagnosed as atypia of undetermined significance by cytology and suspicious for cancer by Afirma Genomic Sequencing Classifier. A 71-year-old male underwent thyroid ultrasound for goiter and was found to have two American Thyroid Association (ATA) 2015 high-suspicion nodules. The larger, 2.2-cm nodule was biopsied and the cytology showed atypical follicular cells and histiocytes. The Afirma Genomic Sequencing Classifier (detecting mRNA expression profile) result was ''suspicious'' (risk of malignancy ~50%) but Afirma Xpression Atlas (detecting specific mutations) did not find mutations in BRAF V600E, RET/PTC1, or RET/PTC3. The patient saw two endocrine surgeons and two endocrinologists who each recommended hemithyroidectomy. The patient chose to monitor the nodules. A new diagnostic ultrasound performed 3 months after the first one showed that the thyroid was significantly smaller and the previously seen nodules were no longer found. Re-examination of the cellular smears confirmed that the cytological findings were also compatible with de Quervain's thyroiditis. This case illustrates that atypical de Quervain's thyroiditis should be in the differential diagnosis of thyroid nodules for cytologists, radiologists, and clinicians. Furthermore, this case demonstrates that atypical de Quervain's thyroiditis can generate false positive results of molecular tests for indeterminate thyroid nodules.

摘要

我们报告了一例不典型的德奎尔万甲状腺炎病例,其细胞学诊断为意义未明的不典型性,而 Afirma Genomic Sequencing Classifier 则怀疑为癌症。一名 71 岁男性因甲状腺肿而行甲状腺超声检查,发现有两个美国甲状腺协会(ATA)2015 年的高可疑结节。较大的 2.2 厘米结节进行了活检,细胞学显示为不典型滤泡细胞和组织细胞。 Afirma Genomic Sequencing Classifier(检测 mRNA 表达谱)结果为“可疑”(恶性肿瘤风险约为 50%),但 Afirma Xpression Atlas(检测特定突变)未发现 BRAF V600E、RET/PTC1 或 RET/PTC3 突变。该患者看了两位内分泌外科医生和两位内分泌科医生,他们都建议进行半甲状腺切除术。患者选择监测结节。首次超声检查 3 个月后进行的新诊断性超声显示甲状腺明显缩小,之前看到的结节已不再存在。对细胞涂片的重新检查证实,细胞学发现也与德奎尔万甲状腺炎相符。这个病例说明了不典型的德奎尔万甲状腺炎应该是细胞学、放射科医生和临床医生在诊断甲状腺结节时的鉴别诊断之一。此外,该病例表明,不典型的德奎尔万甲状腺炎可能会导致不确定甲状腺结节的分子检测产生假阳性结果。

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