伴乳头状癌核特征的非浸润性滤泡性甲状腺肿瘤的分子研究进展
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摘要
目的总结伴乳头状癌核特征的非浸润性滤泡性甲状腺肿瘤(noninvasive follicular thyroid neoplasm with papillary-like nuclear features,NIFTP)的分子研究进展。方法通过检索国内外与NIFTP分子研究相关的文献资料,并进行综述。结果 NIFTP中最常见的分子突变是鼠肉瘤病毒致癌基因同源物(rat sarcoma viral oncogene homolog,RAS),并可见Raf激酶蛋白的β异构体K~(601E)(B-type RAF,BRAF~(K601E))突变、PPARG融合和THADA融合,一般无BRAF~(V600E)突变。微小RNA(micro RNAs)在NIFTP中同样存在异常表达。结论与NIFTP相关的分子可能成为其临床诊断的新分子标志物。
Objective The aim of this study is to review the molecular landscape of noninvasive follicular thyroid neoplasm with papillary-like nuclear features(NIFTP). Method The relevant literatures about molecular profiling of NIFTP were retrospectively analyzed and summarized. Results The most common mutation in NIFTP was rat sarcoma viral oncogene homolog(RAS) mutation. B-type RAF(BRAF~(K601E)) mutation, PPARG fusion, and THADA fusion also could be seen. There was usually no BRAF~(V600E) mutation. miRNAs also were found to be differentially expressed in NIFTP.Conclusion The molecular profiling of NIFTP may become a new molecular marker for the diagnosis of NIFTP.
Objective The aim of this study is to review the molecular landscape of noninvasive follicular thyroid neoplasm with papillary-like nuclear features(NIFTP). Method The relevant literatures about molecular profiling of NIFTP were retrospectively analyzed and summarized. Results The most common mutation in NIFTP was rat sarcoma viral oncogene homolog(RAS) mutation. B-type RAF(BRAF~(K601E)) mutation, PPARG fusion, and THADA fusion also could be seen. There was usually no BRAF~(V600E) mutation. miRNAs also were found to be differentially expressed in NIFTP.Conclusion The molecular profiling of NIFTP may become a new molecular marker for the diagnosis of NIFTP.
引文
1Haugen BR, Alexander EK, Bible KC, et al. 2015 American Thyroid Association Management Guidelines for Adult Patients with Thyroid Nodules and Differentiated Thyroid Cancer:The American Thyroid Association Guidelines Task Force on Thyroid Nodules and Differentiated Thyroid Cancer. Thyroid, 2016, 26(1):1-133.
2Liu Y, Su L, Xiao H. Review of factors related to the thyroid cancer epidemic. Int J Endocrinol, 2017, 2017:5308635.
3Siegel RL, Miller KD, Jemal A. Cancer statistics, 2018. CA Cancer J Clin, 2018, 68(1):7-30.
4Sipos JA, Mazzaferri EL. Thyroid cancer epidemiology and prognostic variables. Clin Oncol(R Coll Radiol), 2010, 22(6):395-404.
5Lloyd RV, Osamura RY, Kloppel G, et al. WHO classification of tumours of endocrine organs, Lyon, France:IARC, 2017:1-20.
6Mahajan S, Agarwal S, Kocheri N, et al. Cytopathology of noninvasive follicular thyroid neoplasm with papillary-like nuclear features:a comparative study with similar patterned papillary thyroid carcinoma variants. Cytopathology, 2018, 29(3):233-240.
7Lloyd RV, Asa SL, LiVolsi VA, et al. The evolving diagnosis of noninvasive follicular thyroid neoplasm with papillary-like nuclear features(NIFTP). Hum Pathol, 2018, 74:1-4.
8Hung YP, Barletta JA. A user’s guide to non-invasive follicular thyroid neoplasm with papillary-like nuclear features(NIFTP).Histopathology, 2018, 72(1):53-69.
9Ward R. Carcinoma of the thyroid gland:a clinical and pathologic study of 293 patients at the University of California hospital. Calif Med, 1960, 93(4):261.
10Baloch ZW, Shafique K, Flannagan M, et al. Encapsulated classic and follicular variants of papillary thyroid carcinoma:comparative clinicopathologic study. Endocr Pract, 2010, 16(6):952-959.
11Vivero M, Kraft S, Barletta JA. Risk stratification of follicular variant of papillary thyroid carcinoma. Thyroid, 2013, 23(3):273-279.
12Liu J, Singh B, Tallini G, et al. Follicular variant of papillary thyroid carcinoma:a clinicopathologic study of a problematic entity.Cancer, 2006, 107(6):1255-1264.
13Davies L, Welch HG. Current thyroid cancer trends in the United States. JAMA Otolaryngol Head Neck Surg, 2014, 140(4):317-322.
14Howitt BE, Jia Y, Sholl LM, et al. Molecular alterations in partiallyencapsulated or well-circumscribed follicular variant of papillary thyroid carcinoma. Thyroid, 2013, 23(10):1256-1262.
15Nikiforov YE, Seethala RR, Tallini G, et al. Nomenclature revision for encapsulated follicular variant of papillary thyroid carcinoma:a paradigm shift to reduce overtreatment of indolent tumors. JAMA Oncol, 2016, 2(8):1023-1029.
16Jiang XS, Harrison GP, Datto MB. Young investigator challenge:molecular testing in noninvasive follicular thyroid neoplasm with papillary-like nuclear features. Cancer Cytopathol, 2016, 124(12):893-900.
17Bizzarro T, Martini M, Capodimonti S, et al. Young investigator challenge:the morphologic analysis of noninvasive follicular thyroid neoplasm with papillary-like nuclear features on liquidbased cytology:some insights into their identification. Cancer Cytopathol, 2016, 124(10):699-710.
18Paulson VA, Shivdasani P, Angell TE, et al. Noninvasive follicular thyroid neoplasm with papillary-like nuclear features accounts for more than half of “carcinomas” harboring RAS mutations.Thyroid, 2017, 27(4):506-511.
19Giannini R, Ugolini C, Poma AM, et al. Identification of two distinct molecular subtypes of non-invasive follicular neoplasm with papillary-like nuclear features by digital RNA counting.Thyroid, 2017, 27(10):1267-1276.
20Zhao L, Dias-Santagata D, Sadow PM, et al. Cytological, molecular,and clinical features of noninvasive follicular thyroid neoplasm with papillary-like nuclear features versus invasive forms of follicular variant of papillary thyroid carcinoma. Cancer Cytopathol, 2017, 125(5):323-331.
21Cho U, Mete O, Kim MH, et al. Molecular correlates and rate of lymph node metastasis of non-invasive follicular thyroid neoplasm with papillary-like nuclear features and invasive follicular variant papillary thyroid carcinoma:the impact of rigid criteria to distinguish non-invasive follicular thyroid neoplasm with papillary-like nuclear features. Mod Pathol, 2017, 30(6):810-825.
22Lee SE, Hwang TS, Choi YL, et al. Molecular profiling of papillary thyroid carcinoma in Korea with a high prevalence of BRAF thyroid. Thyroid, 2017, 27(6):802-810.
23Kim M, Jeon MJ, Oh HS, et al. BRAF and RAS mutational status in noninvasive follicular thyroid neoplasm with papillary-like nuclear features and invasive subtype of encapsulated follicular variant of papillary thyroid carcinoma in Korea. Thyroid, 2018, 28(4):504-510.
24Strickland KC, Eszlinger M, Paschke R, et al. Molecular testing of nodules with a suspicious or malignant cytologic diagnosis in the setting of non-invasive follicular thyroid neoplasm with papillarylike nuclear features(NIFTP). Endocr Pathol, 2018, 29(1):68-74.
25du Jour KP, Schmitt AC, Chen AY, et al. Application of strict criteria for noninvasive follicular thyroid neoplasm with papillarylike nuclear features and encapsulated follicular variant papillary thyroid carcinoma:a retrospective study of 50 tumors previously diagnosed as follicular vriant PTC. Endocr Pathol, 2018, 29(1):35-42.
26Wang Z, Wang W, Huang K, et al. MicroRNA-34a inhibits cells proliferation and invasion by downregulating Notch1 in endometrial cancer. Oncotarget, 2017, 8(67):111258-111270.
27Cui XB, Peng H, Li RR, et al. MicroRNA-34a functions as a tumor suppressor by directly targeting oncogenic PLCE1 in Kazakh esophageal squamous cell carcinoma. Oncotarget, 2017, 8(54):92454-92469.
28Song L, Peng L, Hua S, et al. miR-144-5p enhances the radiosensitivity of non-small-cell lung cancer cells via targeting ATF2. Biomed Res Int, 2018, 2018:5109497.
29Chen K, Chen Y, Chen Z, et al. miR-134 increases the antitumor effects of cytarabine by targeting Mnks in acute myeloid leukemia cells. Onco Targets Ther, 2018, 11:3141-3147.
30Han L, Chen W, Xia Y, et al. MiR-101 inhibits the proliferation and metastasis of lung cancer by targeting zinc finger E-box binding homeobox 1. Am J Transl Res, 2018, 10(4):1172-1183.
31Sun W, Lan X, Wang Z, et al. MicroRNA-144 inhibits proliferation by targeting WW domain-containing transcription regulator protein 1 in papillary thyroid cancer. Oncol Lett, 2018, 15(1):1007-1013.
32Stefanescu H, Muntean D, Pilut C, et al. Using blood and plasma microRNAs as a non-invasive biomarker in patients with colorectal cancer. Clin Lab, 2018, 64(3):257-262.
33Xia D, Li X, Niu Q, et al. MicroRNA-185 suppresses pancreatic cell proliferation by targeting transcriptional coactivator with PDZbinding motif in pancreatic cancer. Exp Ther Med, 2018, 15(1):657-666.
34Borrelli N, Denaro M, Ugolini C, et al. miRNA expression profiling of ‘noninvasive follicular thyroid neoplasms with papillary-like nuclear features’ compared with adenomas and infiltrative follicular variants of papillary thyroid carcinomas.Mod Pathol, 2017, 30(1):39-51.
35Jahanbani I, Al-Abdallah A, Ali RH, et al. Discriminatory miRNAs for the management of papillary thyroid carcinoma and noninvasive follicular thyroid neoplasms with papillary-like nuclear features. Thyroid, 2018, 28(3):319-327.
2Liu Y, Su L, Xiao H. Review of factors related to the thyroid cancer epidemic. Int J Endocrinol, 2017, 2017:5308635.
3Siegel RL, Miller KD, Jemal A. Cancer statistics, 2018. CA Cancer J Clin, 2018, 68(1):7-30.
4Sipos JA, Mazzaferri EL. Thyroid cancer epidemiology and prognostic variables. Clin Oncol(R Coll Radiol), 2010, 22(6):395-404.
5Lloyd RV, Osamura RY, Kloppel G, et al. WHO classification of tumours of endocrine organs, Lyon, France:IARC, 2017:1-20.
6Mahajan S, Agarwal S, Kocheri N, et al. Cytopathology of noninvasive follicular thyroid neoplasm with papillary-like nuclear features:a comparative study with similar patterned papillary thyroid carcinoma variants. Cytopathology, 2018, 29(3):233-240.
7Lloyd RV, Asa SL, LiVolsi VA, et al. The evolving diagnosis of noninvasive follicular thyroid neoplasm with papillary-like nuclear features(NIFTP). Hum Pathol, 2018, 74:1-4.
8Hung YP, Barletta JA. A user’s guide to non-invasive follicular thyroid neoplasm with papillary-like nuclear features(NIFTP).Histopathology, 2018, 72(1):53-69.
9Ward R. Carcinoma of the thyroid gland:a clinical and pathologic study of 293 patients at the University of California hospital. Calif Med, 1960, 93(4):261.
10Baloch ZW, Shafique K, Flannagan M, et al. Encapsulated classic and follicular variants of papillary thyroid carcinoma:comparative clinicopathologic study. Endocr Pract, 2010, 16(6):952-959.
11Vivero M, Kraft S, Barletta JA. Risk stratification of follicular variant of papillary thyroid carcinoma. Thyroid, 2013, 23(3):273-279.
12Liu J, Singh B, Tallini G, et al. Follicular variant of papillary thyroid carcinoma:a clinicopathologic study of a problematic entity.Cancer, 2006, 107(6):1255-1264.
13Davies L, Welch HG. Current thyroid cancer trends in the United States. JAMA Otolaryngol Head Neck Surg, 2014, 140(4):317-322.
14Howitt BE, Jia Y, Sholl LM, et al. Molecular alterations in partiallyencapsulated or well-circumscribed follicular variant of papillary thyroid carcinoma. Thyroid, 2013, 23(10):1256-1262.
15Nikiforov YE, Seethala RR, Tallini G, et al. Nomenclature revision for encapsulated follicular variant of papillary thyroid carcinoma:a paradigm shift to reduce overtreatment of indolent tumors. JAMA Oncol, 2016, 2(8):1023-1029.
16Jiang XS, Harrison GP, Datto MB. Young investigator challenge:molecular testing in noninvasive follicular thyroid neoplasm with papillary-like nuclear features. Cancer Cytopathol, 2016, 124(12):893-900.
17Bizzarro T, Martini M, Capodimonti S, et al. Young investigator challenge:the morphologic analysis of noninvasive follicular thyroid neoplasm with papillary-like nuclear features on liquidbased cytology:some insights into their identification. Cancer Cytopathol, 2016, 124(10):699-710.
18Paulson VA, Shivdasani P, Angell TE, et al. Noninvasive follicular thyroid neoplasm with papillary-like nuclear features accounts for more than half of “carcinomas” harboring RAS mutations.Thyroid, 2017, 27(4):506-511.
19Giannini R, Ugolini C, Poma AM, et al. Identification of two distinct molecular subtypes of non-invasive follicular neoplasm with papillary-like nuclear features by digital RNA counting.Thyroid, 2017, 27(10):1267-1276.
20Zhao L, Dias-Santagata D, Sadow PM, et al. Cytological, molecular,and clinical features of noninvasive follicular thyroid neoplasm with papillary-like nuclear features versus invasive forms of follicular variant of papillary thyroid carcinoma. Cancer Cytopathol, 2017, 125(5):323-331.
21Cho U, Mete O, Kim MH, et al. Molecular correlates and rate of lymph node metastasis of non-invasive follicular thyroid neoplasm with papillary-like nuclear features and invasive follicular variant papillary thyroid carcinoma:the impact of rigid criteria to distinguish non-invasive follicular thyroid neoplasm with papillary-like nuclear features. Mod Pathol, 2017, 30(6):810-825.
22Lee SE, Hwang TS, Choi YL, et al. Molecular profiling of papillary thyroid carcinoma in Korea with a high prevalence of BRAF thyroid. Thyroid, 2017, 27(6):802-810.
23Kim M, Jeon MJ, Oh HS, et al. BRAF and RAS mutational status in noninvasive follicular thyroid neoplasm with papillary-like nuclear features and invasive subtype of encapsulated follicular variant of papillary thyroid carcinoma in Korea. Thyroid, 2018, 28(4):504-510.
24Strickland KC, Eszlinger M, Paschke R, et al. Molecular testing of nodules with a suspicious or malignant cytologic diagnosis in the setting of non-invasive follicular thyroid neoplasm with papillarylike nuclear features(NIFTP). Endocr Pathol, 2018, 29(1):68-74.
25du Jour KP, Schmitt AC, Chen AY, et al. Application of strict criteria for noninvasive follicular thyroid neoplasm with papillarylike nuclear features and encapsulated follicular variant papillary thyroid carcinoma:a retrospective study of 50 tumors previously diagnosed as follicular vriant PTC. Endocr Pathol, 2018, 29(1):35-42.
26Wang Z, Wang W, Huang K, et al. MicroRNA-34a inhibits cells proliferation and invasion by downregulating Notch1 in endometrial cancer. Oncotarget, 2017, 8(67):111258-111270.
27Cui XB, Peng H, Li RR, et al. MicroRNA-34a functions as a tumor suppressor by directly targeting oncogenic PLCE1 in Kazakh esophageal squamous cell carcinoma. Oncotarget, 2017, 8(54):92454-92469.
28Song L, Peng L, Hua S, et al. miR-144-5p enhances the radiosensitivity of non-small-cell lung cancer cells via targeting ATF2. Biomed Res Int, 2018, 2018:5109497.
29Chen K, Chen Y, Chen Z, et al. miR-134 increases the antitumor effects of cytarabine by targeting Mnks in acute myeloid leukemia cells. Onco Targets Ther, 2018, 11:3141-3147.
30Han L, Chen W, Xia Y, et al. MiR-101 inhibits the proliferation and metastasis of lung cancer by targeting zinc finger E-box binding homeobox 1. Am J Transl Res, 2018, 10(4):1172-1183.
31Sun W, Lan X, Wang Z, et al. MicroRNA-144 inhibits proliferation by targeting WW domain-containing transcription regulator protein 1 in papillary thyroid cancer. Oncol Lett, 2018, 15(1):1007-1013.
32Stefanescu H, Muntean D, Pilut C, et al. Using blood and plasma microRNAs as a non-invasive biomarker in patients with colorectal cancer. Clin Lab, 2018, 64(3):257-262.
33Xia D, Li X, Niu Q, et al. MicroRNA-185 suppresses pancreatic cell proliferation by targeting transcriptional coactivator with PDZbinding motif in pancreatic cancer. Exp Ther Med, 2018, 15(1):657-666.
34Borrelli N, Denaro M, Ugolini C, et al. miRNA expression profiling of ‘noninvasive follicular thyroid neoplasms with papillary-like nuclear features’ compared with adenomas and infiltrative follicular variants of papillary thyroid carcinomas.Mod Pathol, 2017, 30(1):39-51.
35Jahanbani I, Al-Abdallah A, Ali RH, et al. Discriminatory miRNAs for the management of papillary thyroid carcinoma and noninvasive follicular thyroid neoplasms with papillary-like nuclear features. Thyroid, 2018, 28(3):319-327.