Diagnosis of metastatic melanoma by fine-needle aspiration biopsy and primary melanoma by using the skin and mucousa imprints
- 作者: Grigoruk O.G.1,2, Pupkova E.E.1, Bazulina L.M.1, Vikhlyanov I.V.1,2
-
隶属关系:
- Altai Regional Oncology Dispensary
- Kemerovo State Medical University
- 期: 卷 28, 编号 3 (2023)
- 页面: 119-129
- 栏目: Original Study Articles
- URL: https://journal-vniispk.ru/1028-9984/article/view/268186
- DOI: https://doi.org/10.17816/onco626586
- ID: 268186
如何引用文章
详细
BACKGROUND: Determination of the cytogenetic origin and morphological type of metastatic or primary tumor determines the prescription of therapy and affects the efficiency of patient’s treatment. Currently, a number of publications evaluate the potential of cytological diagnostics of melanoma.
AIM: To evaluate the significance of diagnosing metastatic melanoma by fine-needle aspiration biopsy and primary melanoma by using the skin and mucosa imprints.
METHODS: In a retrospective study, a comparative analysis of cytological melanoma samples, in comparison with clinical and anamnestic information and the results of histological, immunohistochemical, and molecular genetic studies, was carried out. Information about 109 patients from the cancer registry of the Altai Regional Oncology Dispensary (Barnaul, Russia) for 2022 was used in the study. Traditional and liquid-based methods for preparing samples were used. The samples were stained using Pappenheim and Papanicolaou methods. In some observations, cytological material was used for molecular genetic studies. Using the cancer registry data of the dispensary, the results of histological and of molecular genetic studies, and a final conclusion was given about each patient.
RESULTS: Fine-needle aspiration biopsy was carried out in 80 patients. Tumor smears were obtained from 29 patients. The cytological diagnose “melanoma” was consistent with the data of histological and immunohistochemical studies (p <0.001) for all 109 patients. Melanoma was diagnosed for the first time in 66 (60.5%) patients. In other cases, the process of progression was noted within the period from one year to 20 years. Epidermal melanoma was noted in 101 (92.7%) cases, including 9 patients with acral melanoma, and 2 cases with localization on the vulva. Melanomas of mucosa were found in 5 cases (4.5%): in the rectum and anal canal, vagina, and in 2 cases on the hard palate. Non-epidermal (uveal) melanomas metastases were diagnosed in liver by fine-needle aspiration biopsy in 3 patients (2.8%). Based on the cellular composition, epithelioid cell melanoma was determined in 81 (74.3%) patients, mixed cell in 14 (12.8%) cases, spindle cell in 9 (8.2%), pigmentless in 2 (1.8%) cases and nevoid melanoma in 1 (0.9%) case. The mutation status was determined in 96 patients (88.1%). Of these, in 8 patients it was determined using cytological material. In epidermal melanomas, mutations in codon 600 of exon 15 of the BRAF gene were found in 43 (44.8%) patients, including 2 cases of acral melanoma. Mutations V600K, V600E/Ec were found in one patient each. In mucousal melanomas: Q61R mutation was found in exon 3 of the NRAS gene (vaginal melanoma), G12C mutation was identified in exon 2 of the NRAS gene (anal canal melanoma). In uveal melanomas, the assessed mutations were absent (it is necessary to determine mutation is GNAQ11 and BAP1 genes).
CONCLUSION: Cytological diagnosis of melanoma by fine-needle aspiration biopsies and imprints from the tumor mass is a highly informative method that allows diagnosing melanoma and verifying the tumor subtype. The obtained results indicate tumor heterogeneity and differences in mutational status depending on the location of melanomas. The molecular classification of melanoma is important when choosing individualized therapy.
作者简介
Olga Grigoruk
Altai Regional Oncology Dispensary; Kemerovo State Medical University
编辑信件的主要联系方式.
Email: cytolakod@rambler.ru
ORCID iD: 0000-0001-9981-2348
SPIN 代码: 7250-6259
Dr. Sci. (Biology), Professor
俄罗斯联邦, Barnaul; KemerovoElena Pupkova
Altai Regional Oncology Dispensary
Email: elenapupkova@yandex.ru
ORCID iD: 0000-0001-7369-1883
俄罗斯联邦, Barnaul
Larisa Bazulina
Altai Regional Oncology Dispensary
Email: lardoc69@mail.ru
ORCID iD: 0000-0002-7222-0657
俄罗斯联邦, Barnaul
Igor Vikhlyanov
Altai Regional Oncology Dispensary; Kemerovo State Medical University
Email: akod@akod22.ru
ORCID iD: 0000-0003-3290-7187
俄罗斯联邦, Barnaul; Kemerovo
参考
- Ronchi A, Montella M, Marino FZ, et al. Cytologic diagnosis of metastatic melanoma by FNA: A practical review. Cancer Cytopathol. 2022;130(1):18–29. doi: 10.1002/cncy.22488
- Reed KB, Brewer JD, Lohse CM, et al. Increasing incidence of MM among young adults: an epidemiological study in Olmsted County, Minnesota. Mayo Clin Proc. 2012;87:328–334. doi: 10.1016/j.mayocp.2012.01.010
- Ali Z, Yousaf N, Larkin J. Melanoma epidemiology, biology and prognosis. EJC Suppl. 2013;11:81–91. doi: 10.1016/j.ejcsup.2013.07.012
- Erkenova FD, Puzin SN. Statistics of melanoma in Russia and Europe. Medical and Social Expert Evaluation and Rehabilitation. 2020;23(1):44–52. EDN: WIAAEF doi: 10.17816/MSER34259
- Kaprin AD, Starinskii VV, Shakhzadova AO, editors. Malignant neoplasms in Russia in 2021 (morbidity and mortality). Moscow: P.A. Herzen MNIOI — branch of FGBU NMC Radiology of the Ministry of Health of Russia; 2022. (In Russ).
- Pollock PM, Harper UL, Hansen KS, et al. High frequency of BRAF mutations in nevi. Nat Genet. 2003;33(1):19–20. doi: 10.1038/ng1054
- Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature. 2002;417(6892):949–954. doi: 10.1038/nature00766
- Wong CW, Fan YS, Chan TL, et al. BRAF and NRAS mutations are uncommon in melanomas arising in diverse internal organs. Cancer Genome Project. J Clin Pathol. 2005;58(6):640–644. doi: 10.1136/jcp.2004.022509
- Frank GA, Zavalishina LE, Kekeyeva TV, et al. First Russian nationwide molecular epidemiological study for melanoma: results of BRAF mutation analysis. Arkhiv Patologii. 2014;76(3):65–73. EDN: STSGUN
- Mazurenko NN. Genetic alterations and markers of melanoma. Advances in molecular oncology. 2014;2:26–35. EDN: TRRYPH doi: 10.17650/2313-805X.2014.1.2.26-35
- Semyanikhina AV, Filippova MG, Arkhipova ON, Lyubchenko LN. Hereditary uveal melanoma: a review of literature and a case report. Siberian journal of oncology. 2018;17(2):82–88. doi: 10.21294/1814-4861-2018-17-2-82-88
- Hall BJ, Schmidt RL, Sharma RR, Layfield LJ. Fine-needle aspiration cytology for the diagnosis of metastatic melanoma: systematic review and meta-analysis. Am J Clin Pathol. 2013;140(5):635–642. doi: 10.1309/AJCPWSDDHLLW40WI
- Murali R, Doubrovsky A, Watson GF, et al. Diagnosis of metastatic melanoma by fine-needle biopsy: analysis of 2,204 cases. Am J Clin Pathol. 2007;127(3):385–397. doi: 10.1309/3QR4FC5PPWXA7N29
补充文件
