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Massi D.,University of Florence | Pinzani P.,Experimental and Clinical science | Simi L.,Experimental and Clinical science | Salvianti F.,Experimental and Clinical science | And 5 more authors.
Melanoma Research | Year: 2013

The genotypic profile of rare amelanotic melanomas (AMs) has been poorly investigated, thus preventing either an accurate identification as a distinctive melanoma subtype or therapy stratification. Here, we investigated the presence of the BRAFV600E mutation by real-time quantitative PCR and KIT mutations (exons 11 and 17) by sequencing analysis in 33 AMs. AMs included 'truly' amelanotic lesions (n = 19), with no melanin pigmentation upon dermoscopic inspection and hypomelanotic lesions (n = 14), by definition partially pigmented lesions showing a melanin pigmentation area of less than 25% of the total surface area. The frequency of the BRAFV600E mutation was 70.3% in the 33 cases, a percentage that increased to 89% when only the subgroup of thin melanomas (≤ 1mm in thickness, n = 9) was considered. KIT mutations were found in 12.1% of AMs, all of which developed in nonacral sites. The identification of a relatively high frequency of BRAFV600E and KIT mutations in AMs may have important consequences for implementation of the novel targeted therapies now available to treat this life-threatening disease. © 2013 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Massi D.,University of Florence | Cesinaro A.M.,University of Modena and Reggio Emilia | Tomasini C.,University of Turin | Paglierani M.,University of Florence | And 11 more authors.
Journal of the American Academy of Dermatology | Year: 2011

Background: Identification of the clinical behavior of atypical Spitzoid tumors with conflicting histopathologic features remains controversial. Objective: We sought to assess whether molecular findings may be helpful in the diagnostic and prognostic assessment of atypical Spitzoid tumors. Methods: A total of 38 controversial, atypical Spitzoid lesions (≥1 mm in thickness) were analyzed for clinicopathological features, chromosomal alterations by fluorescence in situ hybridization (FISH) analysis (RREB1/MYB/CCND1/CEP6), BRAFV600E mutation by allele-specific real-time polymerase chain reaction confirmed by sequencing, and H-RAS gene mutation by direct sequencing. Results: Atypical Spitzoid lesions developed in 21 female and 17 male patients (mean age 22 years). Nine patients underwent sentinel lymph node biopsy and a sentinel lymph node micrometastasis was detected in 4 of these 9 cases. Four additional patients, who did not receive a sentinel lymph node biopsy, experienced bulky lymph node metastases and one experienced visceral metastases and death. Lesions from patients with lymph node involvement showed more deep mitoses (P < .01), less inflammation (P = .05), and more plasma cells (P = .04). FISH analysis demonstrated the presence of chromosomal alterations in 6 of 25 cases. Correlation with follow-up data showed that the only case with fatal outcome showed multiple chromosomal alterations by FISH analysis. BRAF V600E mutation was detected in 12 of 16 cases (75%) and H-RAS mutation on exon 3 was found in 3 of 11 cases (27%). Limitations: Our results require validation in a larger series with longer follow-up information. Conclusions: FISH assay may be of help in the prognostic evaluation of atypical Spitzoid tumors. Diagnostic significance of BRAFV600E and H-RAS mutations in this setting remains unclear. © 2010 by the American Academy of Dermatology, Inc.

Ermacora D.,DataMind | Pesente S.,Tecnologie Avanzate Srl | Pascoli F.,Tecnologie Avanzate Srl | Raducci S.,DataMind | And 5 more authors.
Ultrasound in Medicine and Biology | Year: 2015

A novel fully automated algorithm is introduced for 3-D cross-modality image segmentation of the prostate, based on the simultaneous use of co-registered computed tomography (CT) and 3-D ultrasound (US) images. By use of a Gabor feature detector, the algorithm can outline in three dimensions and in cross-modality the prostate, and it can be trained and optimized on specific patient populations. We applied it to 16 prostate cancer patients and evaluated the conformity between the automatically segmented prostate contours and the contours manually outlined by an experienced physician, on the CT-US fusion, using the mean distance to conformity (MDC) index. When only the CT scans were used, the average MDC value was 4.5 ± 1.7 mm (maximum value = 9.0 mm). When the US scans also were considered, the mean ± standard deviation was reduced to 3.9 ± 0.7 mm (maximum value = 5.5 mm). The cross-modality approach acted on all the largest distance values, reducing them to acceptable discrepancies. © 2015 World Federation for Ultrasound in Medicine & Biology.

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