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), BRAF(V600E) 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 = .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 BRAF(V600E) and H-RAS mutations in this setting remains unclear.

Atypical Spitzoid melanocytic tumors: a morphological,mutational, and FISH analysis / Massi D; Cesinaro AM; Tomasini C; Paglierani M; Bettelli S; Dal Maso L; Simi L; Salvianti F; Pinzani P; Orlando C; De Giorgi V; Lukic S; Maiorana A; Santucci M; Canzonieri V.. - In: JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY. - ISSN 0190-9622. - STAMPA. - 64:(2011), pp. 919-935. [10.1016/j.jaad.2010.05.043]

Atypical Spitzoid melanocytic tumors: a morphological,mutational, and FISH analysis

MASSI, DANIELA;SIMI, LISA;SALVIANTI, FRANCESCA;PINZANI, PAMELA;ORLANDO, CLAUDIO;SANTUCCI, MARCO;
2011

Abstract

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), BRAF(V600E) 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 = .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 BRAF(V600E) and H-RAS mutations in this setting remains unclear.
64
919
935
Goal 3: Good health and well-being
Massi D; Cesinaro AM; Tomasini C; Paglierani M; Bettelli S; Dal Maso L; Simi L; Salvianti F; Pinzani P; Orlando C; De Giorgi V; Lukic S; Maiorana A; Santucci M; Canzonieri V.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2158/597416
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