原发灶不明癌溯源定位方法的研究进展

赵凌昆; 李葳; 骆惊涛

doi:10.12354/j.issn.1000-8179.2023.20220993

原发灶不明癌溯源定位方法的研究进展

doi: 10.12354/j.issn.1000-8179.2023.20220993

赵凌昆^1,,
李葳²,
骆惊涛^2, ,

1.
天津医科大学研究生院，天津医科大学肿瘤医院颌面耳鼻喉肿瘤科，国家恶性肿瘤临床医学研究中心，天津市肿瘤防治重点实验室，天津市恶性肿瘤临床医学研究中心（天津市300060）
2.
天津医科大学肿瘤医院颌面耳鼻喉肿瘤科

基金项目: 本文课题受国家自然科学基金面上项目（编号：82073006）资助

详细信息

作者简介:
赵凌昆：专业方向为头颈肿瘤学的基础研究

通讯作者:
骆惊涛　jluo@tmu.edu.cn

计量
- 文章访问数: 1138
- HTML全文浏览量: 74
- PDF下载量: 55
- 被引次数: 0
出版历程
- 收稿日期: 2022-07-04
- 录用日期: 2022-10-07
- 修回日期: 2022-10-02
- 网络出版日期: 2023-02-14

Research progress in tracing and locating methods of cancer of unknown primary

Lingkun Zhao^1
,,
Wei Li²,
Jingtao Luo^{2
, ,}

1.
Graduate School of Tianjin Medical University, Department of Maxillofacial and Otorhinolaryngology Oncology, Tianjin Medical University Cancer Institute & Hospital
2.
Department of Maxillofacial Otolaryngological Oncology, Tianjin Medical University Cancer Institute & Hospital, National Clinical Research Center for Cancer, Tianjin Key Laboratory of Cancer Prevention and Therapy, Tianjin's Clinical Research Center for Cancer, Tianjin 300060, China

Funds: This work was supported by the National Natural Science Foundation of China (General Program) (No.82073006)

More Information

Corresponding author: Jingtao Luo; E-mail：jluo@tmu.edu.cn

摘要

摘要: 原发灶不明癌(cancer of unknown primary，CUP)是经组织学证实的转移性恶性肿瘤，其原发肿瘤部位在标准评估和影像学研究的基础上无法识别。通过临床检测、免疫组织化学、基因表达谱、DNA甲基化、下一代测序技术、microRNA检测等方法可对原发灶不明癌进行溯源。随着溯源定位技术的不断发展，更多的方法被开发出用于原发灶不明癌的原发病灶的定位，这些技术将有助于对原发灶不明癌进行评估及诊疗，并改善患者的预后。本文就原发灶不明癌溯源定位方法的研究进展做一综述，以期为临床治疗提供新的方法及理论依据。
- 肿瘤溯源 /
- 恶性肿瘤 /
- 癌症
Abstract: Cancer of unknown primary (CUP) is histologically confirmed, metastatic malignancies with a primary tumor site that is unidentifiable on the basis of standard evaluation and imaging studies. Clinical detection, immunohistochemistry, gene expression profile, DNA methylation, next-generation sequencing, microRNA detection, and other methods were used to trace the origin of CUP. With the continuous development of tracing and localization technologies for CUP origin, more methods for locating the primary foci of CUP have been developed. These techniques will contribute to the clinical evaluation, diagnosis, and treatment of CUP, and improve the prognosis of patients. This article reviewed the research progress of tracing and locating methods of CUP, to provide a new method and theoretical basis for clinical treatment.
- tumor tracing /
- malignant tumor /
- cancer

HTML全文

参考文献(39)

[1]	Maghami E, Ismaila N, Alvarez A, et al. Diagnosis and management of squamous cell carcinoma of unknown primary in the head and neck: ASCO Guideline[J]. J Clin Oncol, 2020, 38(22):2570-2596. doi: 10.1200/JCO.20.00275
[2]	Pavlidis N, Briasoulis E, Hainsworth J, et al. Diagnostic and therapeutic management of cancer of an unknown primary[J]. Eur J Cancer, 2003, 39(14):1990-2005.
[3]	Hermans KEPE, van den Brandt PA, Loef C, et al. Alcohol consumption, cigarette smoking and cancer of unknown primary risk: Results from the Netherlands Cohort Study[J]. Int J Cancer, 2021, 148(7):1586-1597. doi: 10.1002/ijc.33328
[4]	Grewcock ALR, Hermans KEPE, Weijenberg MP, et al. Family history of cancer in first degree relatives and risk of cancer of unknown primary[J]. Eur J Cancer Care (Engl), 2021, 30(6):e13485.
[5]	Tanizaki J, Yonemori K, Akiyoshi K, et al. Open-label phase Ⅱ study of the efficacy of nivolumab for cancer of unknown primary[J]. Ann Oncol, 2022, 33(2):216-226. doi: 10.1016/j.annonc.2021.11.009
[6]	Davalos V, Esteller M. Insights from the genetic and transcriptional characterization of a cancer of unknown primary (CUP)[J]. EMBO Mol Med, 2020, 12(7):e12685.
[7]	Verginelli F, Pisacane A, Gambardella G, et al. Cancer of unknown primary stem-like cells model multi-organ metastasis and unveil liability to MEK inhibition[J]. Nat Commun, 2021, 12(1):2498. doi: 10.1038/s41467-021-22643-w
[8]	Lu MY, Chen TY, Williamson DFK, et al. AI-based pathology predicts origins for cancers of unknown primary[J]. Nature, 2021, 594(7861):106-110. doi: 10.1038/s41586-021-03512-4
[9]	Kang S, Jeong JH, Yoon S, et al. Real-world data analysis of patients with cancer of unknown primary[J]. Sci Rep, 2021, 11(1):23074. doi: 10.1038/s41598-021-02543-1
[10]	Rassy E, Kattan J, Pavlidis N. Familial cancer of unknown primary[J]. Int J Clin Oncol, 2019, 24(10):1328-1331.
[11]	Haratani K, Hayashi H, Takahama T, et al. Clinical and immune profiling for cancer of unknown primary site[J]. J Immunother Cancer, 2019, 7(1):251. doi: 10.1186/s40425-019-0720-z
[12]	Hannouf MB, Winquist E, Mahmud SM, et al. The potential clinical and economic value of primary tumour identification in metastatic cancer of unknown primary tumour: A population-based retrospective matched cohort study[J]. Pharmacoecon Open, 2018, 2(3):255-270. doi: 10.1007/s41669-017-0051-2
[13]	Hayashi H, Kurata T, Takiguchi Y, et al. Randomized phase Ⅱ trial comparing site-specific treatment based on gene expression profiling with carboplatin and paclitaxel for patients with cancer of unknown primary site[J]. J Clin Oncol, 2019, 37(7):570-579. doi: 10.1200/JCO.18.00771
[14]	Rassy E, Pavlidis N. The currently declining incidence of cancer of unknown primary[J] Cancer Epidemiol ,2019 , 61: 139-141.
[15]	Talantov D, Baden J, Jatkoe T, et al. A quantitative reverse transcriptase-polymerase chain reaction assay to identify metastatic carcinoma tissue of origin[J]. J Mol Diagn, 2006, 8(3):320-329. doi: 10.2353/jmoldx.2006.050136
[16]	Lee MS, Sanoff HK. Cancer of unknown primary[J]. BMJ, 2020, 371:m4050.
[17]	Selves J, Long-Mira E, Mathieu MC, et al. Immunohistochemistry for diagnosis of metastatic carcinomas of unknown primary site[J]. Cancers (Basel), 2018, 10(4):108. doi: 10.3390/cancers10040108
[18]	Donizy P, Wróblewska JP, Dias-Santagata D, et al. Merkel cell carcinoma of unknown primary: immunohistochemical and molecular analyses reveal distinctUV-signature/MCPyV-negative and high immunogenicity/MCPyV-positive profiles[J]. Cancers (Basel), 2021, 13(7):1621. doi: 10.3390/cancers13071621
[19]	Taguchi T, Ishikawa M, Ichikawa M, et al. Amplification-free detection of bacterial genes using a signaling probe-based DNA microarray[J]. BiosensBioelectron, 2021, 194:113659.
[20]	Nagy Á, Munkácsy G, Győrffy B. Pancancer survival analysis of cancer hallmark genes[J]. Sci Rep, 2021, 11(1):6047. doi: 10.1038/s41598-021-84787-5
[21]	Ma J, Lin X, Chen C, et al. Circulating miR-181c-5p and miR-497-5p are potential biomarkers for prognosis and diagnosis of osteoporosis[J]. J Clin Endocrinol Metab, 2020, 105(5):dgz300.
[22]	Ramaswamy S, Tamayo P, Rifkin R, et al. Multiclass cancer diagnosis using tumor gene expression signatures[J]. Proc Natl Acad Sci USA, 2001, 98(26):15149-15154. doi: 10.1073/pnas.211566398
[23]	Greco FA, Lennington WJ, Spigel DR, et al. Molecular profiling diagnosis in unknown primary cancer: accuracy and ability to complement standard pathology[J]. J Natl Cancer Inst, 2013, 105(11):782-790. doi: 10.1093/jnci/djt099
[24]	Koch A, Joosten SC, Feng Z, et al. Analysis of DNA methylation in cancer: location revisited[J]. Nat Rev Clin Oncol, 2018, 15(7):459-466. doi: 10.1038/s41571-018-0004-4
[25]	Heiss JA, Just AC. Improved filtering of DNA methylation microarray data by detection p values and its impact on downstream analyses[J]. Clin Epigenetics, 2019, 11(1):15. doi: 10.1186/s13148-019-0615-3
[26]	Jiao X, Zhang S, Jiao J, et al. Promoter methylation of SEPT9 as a potential biomarker for early detection of cervical cancer and its overexpression predicts radioresistance[J]. Clin Epigenetics, 2019, 11(1):120. doi: 10.1186/s13148-019-0719-9
[27]	Moran S, Martínez-Cardús A, Sayols S, et al. Epigenetic profiling to classify cancer of unknown primary: a multicentre, retrospective analysis[J]. Lancet Oncol, 2016, 17(10):1386-1395. doi: 10.1016/S1470-2045(16)30297-2
[28]	Du J, Li M, Huang Q, et al. The critical role of microRNAs in stress response: Therapeutic prospect and limitation[J]. Pharmacol Res, 2019, 142:294-302. doi: 10.1016/j.phrs.2018.12.007
[29]	Kozomara A, Birgaoanu M, Griffiths-Jones S. MirBase: from microRNA sequences to function[J]. Nucleic Acids Res, 2019, 47(D1): D155-D162.
[30]	Zanutto S, Ciniselli CM, Belfiore A, et al. Plasma miRNA-based signatures in CRC screening programs[J]. Int J Cancer, 2020, 146(4):1164-1173. doi: 10.1002/ijc.32573
[31]	Mitchell PS, Parkin RK, Kroh EM, et al. Circulating microRNAs as stable blood-based markers for cancer detection[J]. Proc Natl Acad Sci USA, 2008, 105(30):10513-10518. doi: 10.1073/pnas.0804549105
[32]	Laprovitera N, Riefolo M, Porcellini E, et al. MicroRNA expression profiling with a droplet digital PCR assay enables molecular diagnosis and prognosis of cancers of unknown primary[J]. Mol Oncol, 2021, 15(10):2732-2751. doi: 10.1002/1878-0261.13026
[33]	Gaertner J, Frechen S, Sladek M, et al. Palliative care consultation service and palliative care unit: why do we need both[J]. Oncologist, 2012, 17(3):428-435. doi: 10.1634/theoncologist.2011-0326
[34]	Erlander MG, Ma XJ, Kesty NC, et al. Performance and clinical evaluation of the 92-gene real-time PCR assay for tumor classification[J]. J Mol Diagn, 2011, 13(5):493-503. doi: 10.1016/j.jmoldx.2011.04.004
[35]	Li M, Li H, Hong G, et al. Identifying primary site of lung-limited cancer of unknown primary based on relative gene expression orderings[J]. BMC Cancer, 2019, 19(1):67. doi: 10.1186/s12885-019-5274-4
[36]	Hainsworth JD, Rubin MS, Spigel DR, et al. Molecular gene expression profiling to predict the tissue of origin and direct site-specific therapy in patients with carcinoma of unknown primary site: a prospective trial of the Sarah Cannon research institute[J]. J Clin Oncol, 2013, 31(2):217-223.
[37]	Varghese AM, Arora A, Capanu M, et al. Clinical and molecular characterization of patients with cancer of unknown primary in the modern era[J]. Ann Oncol, 2017, 28(12):3015-3021. doi: 10.1093/annonc/mdx545
[38]	Kato S, Krishnamurthy N, Banks KC, et al. Utility of genomic analysis in circulating tumor DNA from patients with carcinoma of unknown primary[J]. Cancer Res, 2017, 77(16):4238-4246. doi: 10.1158/0008-5472.CAN-17-0628
[39]	Penson A, Camacho N, Zheng Y, et al. Development of genome-derived tumor type prediction to inform clinical cancer care[J]. JAMA Oncol, 2020, 6(1):84-91. doi: 10.1001/jamaoncol.2019.3985