Detection of &lt;b&gt;&lt;i&gt;BRAF &lt;/i&gt;&lt;/b&gt;Mutation in Metastatic Melanoma Utilizing Cell-Transferred Cytological Smears

Malignant melanoma (MM) is a highly aggressive neoplasm with a growing worldwide incidence. It is not uncommon that the disease is already metastatic at the time of the first diagnosis. Regional lymph nodes and skin are the first and most common metastatic sites, followed by distant visceral sites (lungs, liver, and central nervous system) and bone. In this clinical setting, fine-needle aspiration (FNA) often represents the first diagnostic approach. FNA is a useful tool to obtain a rapid and accurate diagnosis, in conjunction with ancillary techniques and molecular analysis, as recommended by recent guidelines.The aim of this review was to describe the cytomorphology, immunocytochemical tools, and molecular tools used for the diagnosis of MM metastases on FNA. Cancer Cytopathol 2021;0:1-12.

show abstract

“… 53 Similar results were obtained by Chen et al, which determined the BRAF mutation status in 93% of 30 FNA cases. 54 …”

Section: Advances In the Cytologic Diagnosis Of MMmentioning

confidence: 99%

Cytologic diagnosis of metastatic melanoma by FNA: A practical review

Ronchi

Montella

Marino

et al. 2021

Cancer Cytopathology

View full text Add to dashboard Cite

show abstract

“…It was consequently proposed, and applied, as a screening tool for a rapid and cheaper assessment of BRAF V600E mutational status in histological samples [ 11 , 12 , 13 , 14 ]. In the clinical setting of the advanced disease, the biomaterial obtained from metastasis through FNA procedure for diagnosis could be also used for the assessment of the current BRAF status of the patients, who cannot benefit from surgery with radical intent, avoiding unnecessary surgical stress and public health charges [ 15 , 16 , 17 ]. Indeed, although the BRAF status usually does not change in the metastasis with respect to the primitive CM, a recent metanalysis underlined the discrepancy between the primitive CM and relative metastasis, calculating a change from BRAF mutation in primitive CM to wild type in relative metastasis in 15.1% of analyzed series and an opposite change in 13.2% of such series [ 18 ].…”

Section: Introductionmentioning

confidence: 99%

“…In addition, metastasis could be the only clinical feature of melanoma with an unknown BRAF status. Thus, cytological samples could represent the only biomaterials useful for detecting BRAF status [ 16 , 17 ]. Finally, a different BRAF status of the metastasis with respect to known primitive tumors could also be the expression of another tumor with a different mutational status [ 19 ].…”

Section: Introductionmentioning

confidence: 99%

Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era

et al. 2021

View full text Add to dashboard Cite

Background: Cutaneous malignant melanoma is an aggressive neoplasm. In advanced cases, the therapeutic choice depends on the mutational status of BRAF. Fine needle aspiration cytology (FNA) is often applied to the management of patients affected by melanoma, mainly for the diagnosis of metastases. The evaluation of BRAF mutational status by sequencing technique on cytological samples may be inconvenient, as it is a time and biomaterial-consuming technique. Recently, BRAF immunocytochemistry (ICC) was applied for the evaluation of BRAF V600E mutational status. Although it may be useful mainly in cytological samples, data about BRAF ICC on cytological samples are missing. Methods: We performed BRAF ICC on a series of 50 FNA samples of metastatic melanoma. BRAF molecular analysis was performed on the same cytological samples or on the corresponding histological samples. Molecular analysis was considered the gold standard. Results: BRAF ICC results were adequate in 49 out of 50 (98%) cases, positive in 15 out of 50 (30%) cases and negative in 34 out of 50 (68%) of cases. Overall, BRAF ICC sensitivity, specificity, positive predictive value and negative predictive value results were 88.2%, 100%, 100% and 94.1%, respectively. The diagnostic performance of BRAF ICC results was perfect when molecular evaluation was performed on the same cytological samples. Hyperpigmentation represents the main limitation of the technique. Conclusions: BRAF ICC is a rapid, cost-effective method for detecting BRAF V600E mutation in melanoma metastases, applicable with high diagnostic performance to cytological samples. It could represent the first step to evaluate BRAF mutational status in cytological samples, mainly in poorly cellular cases.

show abstract

Overview of Molecular Testing of Cytology Specimens

Huang¹,

Wei²

2019

Acta Cytologica

View full text Add to dashboard Cite

Objective: Utilizing cytology specimens for molecular testing has attracted increasing attention in the era of personalized medicine. Cytology specimens are clinically easier to access. The samples can be quickly and completely fixed in a very short time of fixation before tissue degradation occurs, compared to hours or days of fixation in surgical pathology specimens. In addition, cytology specimens can be fixed without formalin, which can significantly damage DNA and RNA. All these factors contribute to the superb quality of DNA and RNA in cytology specimens for molecular tests. Study Design: We summarize the most pertinent information in the literature regarding molecular testing in the field of cytopathology. Results: The first part focuses on the types of cytological specimens that can be used for molecular testing, including the advantages and limitations. The second section describes the common molecular tests and their clinical application. Conclusion: Various types of cytology specimens are suitable for many molecular tests, which may require additional clinical laboratory validation.

show abstract

Detection of <b><i>BRAF </i></b>Mutation in Metastatic Melanoma Utilizing Cell-Transferred Cytological Smears

Cited by 5 publications

References 11 publications

Cytologic diagnosis of metastatic melanoma by FNA: A practical review

Cytologic diagnosis of metastatic melanoma by FNA: A practical review

Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era

Overview of Molecular Testing of Cytology Specimens

Contact Info

Product

Resources

About