Presence of cytogenetic abnormalities in Spitz naevi: a diagnostic challenge for fluorescence <i>in‐situ</i> hybridization analysis

Martin, Vittoria; Banfi, Sara; Bordoni, Andrea; Leoni-Parvex, Sandra; Mazzucchelli, Luca

doi:10.1111/j.1365-2559.2011.04087.x

Cited by 20 publications

(13 citation statements)

References 17 publications

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“…32,47 However, tetraploidy is not the unique problem that can be encountered in morphologically clear-cut Spitz nevi, inasmuch as conflicting data have been reported about FISH results in Spitzoid neoplasms as a whole (Table 5). 18,24,[28][29][30][31][32][33][34] In our recent routine (unpublished data), of 36 consecutive atypical Spitzoid proliferations, we found 12 FISHpositive cases (33.3%), none of which was tetraploid, with isolated RREB1 and isolated CCND1 gain being the most commonly positive parameters (4 cases each). In the 4 cases with isolated CCND1 (11q13) gain, we also performed a dualcolor FISH test for CCND1 (labeled with SpectrumOrange) and chromosome 11 centromere (labeled with SpectrumGreen): all these cases were demonstrated to harbor a "high-level" CCND1 gene amplification (.2 gene/centromere ratio or "clustered spots" of the gene 52 ; Fig.…”

Section: Diagnostic Problems With Fish In Spitzoid Lesionsmentioning

confidence: 98%

Fluorescence In Situ Hybridization for Melanoma Diagnosis

Ferrara

Vanna

2016

The American Journal of Dermatopathology

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Although conventional histopathological examination is the undisputable mainstay for the diagnosis of melanocytic skin neoplasms, fluorescence in situ hybridization (FISH) has the potential to provide important information to morphologically challenging cases. The standard melanoma FISH test targeting RREB1 (6p25), MYB (6q23), CCND1 (11q13), and centromere 6 is an effective compromise between cost, technical complexity, and sensitivity. The authors use the standard FISH-positivity as a tie-breaker for challenging melanocytic neoplasms mainly in a non-Spitzoid morphologic context because the currently available test leaves several unresolved issues: namely, a relatively low diagnostic accuracy in morphologically ambiguous melanocytic neoplasms; a relatively low sensitivity and specificity in Spitzoid neoplasms; and the occurrence of false positives due to tetraploidy in Spitz nevi and in nevi with an atypical epithelioid component. Under investigation is currently a new melanoma probe cocktail targeting RREB1 (6p25), C-MYC (8q24), CDKN2A (9p21), and CCND1 (11q13). However, CDKN2A is a significant parameter only if lost in homozygosis, and this complicates the interpretation of the results. Furthermore, the new melanoma probe cocktail has been tested on cases of atypical Spitzoid proliferations with fatal outcomes which at present are too few to allow definite conclusions. The authors propose the implementation of a FISH algorithm (standard 4-probe test followed by either C-MYC or CDKN2A/centromere 9) to assist the histopathological diagnosis and minimize the technical problems. Nevertheless, because the diagnostic accuracy of the FISH technique is far from being absolute, the overall clinicopathological context must always guide the decision-making process about the management of morphobiologically ambiguous melanocytic proliferations.

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Section: Diagnostic Problems With Fish In Spitzoid Lesionsmentioning

confidence: 98%

Fluorescence In Situ Hybridization for Melanoma Diagnosis

Ferrara

Vanna

2016

The American Journal of Dermatopathology

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“…It is possible, unlike melanoma, that there is not significant ongoing instability in these lesions. It is important to point out that others have noted other cytogenetic abnormalities in Spitz nevi [22] so ongoing CIN cannot be fully ruled out. Thus, while the current data suggests CIN does not play a role in the majority of nevi, chromosomal aberrations do occur in benign lesions and indicate a need to be cautious when interpreting chromosomal changes in melanocytic lesions.…”

Section: Is There Cin In Benign Neoplasms?mentioning

confidence: 99%

Diagnostic Role of Chromosomal Instability in Melanoma

Dabas

Byrnes

Rosa

et al. 2012

Journal of Skin Cancer

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Early diagnosis gives melanoma patients the best chance for long term survival. However discrimination of an early melanoma from an unusual/atypical benign nevus can represent a significant challenge. There are no current pathological markers to definitively define malignant potential in these indeterminate lesions. Thus, there is a need for improved diagnostic tools. Chromosomal instability (CIN) is a hallmark of cancer and is markedly prevalent in melanoma. Advances in genomics have opened the door for the development of molecular tools to better segregate benign and malignant lesions. This paper focuses on CIN in melanoma and the role of current diagnostic approaches.

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“…However, 20 of these 30 positive cases (67%) showed interalgorithmic differences, being FISH positive according to one set of criteria but negative according to another one ( Table 2). 8 Prompted by these interalgorithmic differences and ambiguous results, we developed 2 graphic tools for the evaluation of multicolor melanoma FISH data and compared the results with those of the mathematical algorithms (Abbott, Gerami, and NeoGenomics). Validation of the newly developed graphic analysis of FISH data was first performed on 30 common acquired melanocytic nevi that were all FISH negative according to the 3 numerical criteria tested.…”

Section: Resultsmentioning

confidence: 99%

Two-Dimensional Visualization of Multicolor FISH-Generated Data as a Helpful Tool for the Analysis and Understanding of Cytogenetic and Chromosomal Alterations in Melanocytic Lesions

Kerl

Schärer²,

Hesse³

et al. 2013

The American Journal of Dermatopathology

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For the evaluation of data generated by multicolor fluorescence in situ hybridization (FISH), we present here a synergistic approach that integrates the 3 most commonly used numerical algorithms in conjunction with 2 newly devised graphic tools for data visualization, namely "signal curves" and "rhombic heat maps." These two graphic tools provide information additional to the currently used numerical algorithms and thus facilitate the recognition and compensation of inherent errors that occur with the numerical method.

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Presence of cytogenetic abnormalities in Spitz naevi: a diagnostic challenge for fluorescence in‐situ hybridization analysis

Cited by 20 publications

References 17 publications

Fluorescence In Situ Hybridization for Melanoma Diagnosis

Fluorescence In Situ Hybridization for Melanoma Diagnosis

Diagnostic Role of Chromosomal Instability in Melanoma

Two-Dimensional Visualization of Multicolor FISH-Generated Data as a Helpful Tool for the Analysis and Understanding of Cytogenetic and Chromosomal Alterations in Melanocytic Lesions

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