Search

Background: No studies are available in the literature on the distribution of different melanoma features and risk factors in the Italian geographical areas. Objective: To identify the differences in clinical-pathological features of melanoma, the distribution of risk factors and sun exposure in various Italian macro-areas. Methods: Multicentric-observational study involving 1,472 melanoma cases (713 north, 345 centre, 414 south) from 26 referral centres belonging to the Italian Multidisciplinary Group for Melanoma. Results: Melanoma patients in northern regions are younger, with thinner melanoma, multiple primaries, lower-intermediate phototype and higher counts of naevi with respect to southern patients; detection of a primary was mostly connected with a physician examination, while relatives were more involved in the south. Northern patients reported a more frequent use of sunbeds and occurrence of sunburns before melanoma despite sunscreen use and a lower sun exposure during the central hours of the day. Conclusions: The understanding of differences in risk factors distribution could represent the basis for tailored prevention programmes.

Extranodal natural killer/T-cell (ENK/T) lymphoma is a rare neoplasm, subcategorized into ENK/T-nasal (ENK/T-N) and ENK/T-nasal type (ENK/T-NT) lymphomas. ENK/T-NT lymphoma with initial presentation in the skin is known as primary cutaneous ENK/T-NT (PC-ENK/T-NT) lymphoma. The aim of this study was to investigate pathogenesis, genomic alterations, and prognosis of cutaneous ENK/T lymphomas to provide further insights into clinicopathologic features and genetic mechanism of lymphomagenesis. A retrospective case study of 5 white patients affected by ENK/T lymphoma (4 PC-ENK/T-NT and 1 ENK/T-N with cutaneous involvement) was performed. Most of the cases presented with multiple nodules and ulcerations localized on the extremities. A considerable percentage had disease in advanced stage with a 12-month survival rate of 40%. Genomic alterations were detected by array-based comparative genomic hybridization that showed gains of 1q, 7q and loss of 17p in the cases of PC-ENK/T-NT lymphomas and gain of 7q and loss of 9p, 12p, 12q in the case of ENK/T-N lymphoma. In conclusion, ENK/T lymphoma is a very aggressive entity, and, in our cases, the exclusively cutaneous presentation was not associated with a better prognosis. The results of our array comparative genomic hybridization analysis could be useful to better define the different ENK/T lymphoma subgroups with cutaneous involvement.

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are considered to be severity variants of the same disease, which is almost always associated with drug intake. In contrast, erythema multiforme (EM) is a disorder regarded as only rarely caused by drugs. Keratinocyte apoptosis has been shown to play an important part in the pathogenesis of SJS and TEN, whilst its role in EM remains controversial. To determine the expression of apoptosis-associated molecules Fas, Fas ligand (FasL), Bcl-2 and Bax in the above disorders, an immunohistochemical analysis was performed. We studied both lesional skin from thirty patients having drug-induced EM and 5 cases classified within the SJS/TEN spectrum and normal skin samples. We found a keratinocyte overexpression of Fas antigen, an important molecule mediating apoptosis, not only in SJS and TEN but also in EM. Another noteworthy finding was the strong expression of Bcl-2, a protein known as blocking apoptosis, along the basal layer and in the dermal infiltrate both in SJS/TEN and in EM. Taken together, these findings suggest that Fas-dependent keratinocyte apoptosis may play a part in the pathogenesis of both SJS/TEN and EM. Fas-mediated cell death may be partially suppressed by the Bcl-2 protein. Copyright © by Biolife, s.a.s.

Cutaneous leishmaniasis (CL) is an infection caused by protozoa from the genus Leishmania. The disease is transmitted by sandflies. Reservoirs are dogs, mice, wild rodents and, more rarely, humans. CL is clinically characterized by a single, polymorphous lesion, usually localized on the face or limbs. Nowadays, CL is more frequently seen among travellers returning from tropical and subtropical countries (1). Cutaneous lymphoid hyperplasia (CLH), also known as pseudolymphoma, is a reactive proliferation, probably secondary to persistent antigenic stimulation. We present here a case of CLH associated with L. panamensis infection.

Abstract 2713 Primary cutaneous T-cell lymphomas (CTCL) are usually characterized by a T-helper CD4+ immunophenotype and show an indolent clinical course; on the contrary, cases harbouring a CD8+ cytotoxic immunophenotype exhibiting epidermotropism (AECTCL) or pleomorphic morphology (PTL-NOS), as well as cases with gamma-delta + (CGDL) immunophenotype, display a very different course. Clinically, these tumours are very aggressive, with poor outcome in adults. Chemotherapy, preferably based on intensive CHOP-like regimens, represents the mainstay of treatment, when possible followed by stem cell transplantation. Histologically, tumour cells constitute a population of pleomorphic medium-large size elements. In these rare CTCL subtypes few reports have been published dealing with oncogenomic investigations. With this study, by array-based comparative genomic hybridization (a-CGH) and gene expression profiling (a-GEP), we aimed to explore genomic alterations possibly involved in tumorigenesis of aggressive CTCL referred to our department. We focused on 9 cases of CD8+ AECTCL, 3 cases of CD8+ PTL-NOS and 4 cases of CGDL, who were extensively investigated by a-CGH; a-GEP was applied in 5 cases of AECTCL to further expose genomic profile of neoplastic cells. Among AECTCL patients, immunophenotype was always typical and EBV was demonstrated only in one case. Results were assessed by statistical analysis to reveal more significant common chromosomal aberrations. By a-CGH investigations, we found the presence of extensive gains and losses of both large and small chromosomal regions; copy number gains were more frequent than losses. In CD8+ cases, we observed gains of 3p21.33-p21.2 in 10 out of 12 cases, 6p21.2-p21.1 in 8/12, 7q11.23 in 9/12, 7q21.2-q22.1 in 10/12, 7q36.1-q36.3 in 7/12, 8q24.3 in 8/12, 11pter in 11/12, 11q12.3-q13.2 in 10/12, 16p13.3 in 10/12, 17q in 10/12, trisomy 19 (as a mosaic aberration) in 12/12, and trisomy 22 in 8/12; losses involved 4q12-q22.2 in 8/12, 9p21.3 in 10/12 (homozygous in 7) and 14q11.2 in 9/12. In CGDL, recurrent copy number alterations (observed in 50% to 75% of cases) were gains of 2q13-qter, 17q21.3, 19 (trisomy, as mosaic) and 22q11.21, along with losses of 4q12-q22, 6q23.3 and 9p21.3. Summarizing, most of our genomic results have been previously described in other cutaneous lymphomas: gains of 3p21 in diffuse large B-cell lymphomas (DLBCL), of 7q21 in mycosis fungoides (MF), of 8q24 in PTL-NOS and in Sézary syndrome (SS), of 11q22-q13 in DLBCL, of 16p in DLBCL and in angioimmunoblastic T-cell lymphoma (AITL), of 19p in AITL and natural killer lymphomas, trisomy 22 in AITL, PTL-NOS and SS, gain of 17q in SS and in ALCL, MF and PTL-NOS. However, we underline the loss of p21.3, determining CDKN2A deletion, as a common alteration in these three CTCL entities. We also found other common anomalies in AECTCL and PTL-NOS, with particular interest with regard to gain of 17q, 19p13 and 19q13.11-q32, which associate with the JAK/STAT signaling pathway activation. Other alterations in AECTCL cases involve c-MYC (8q24), CCND1/CDK4–6 (11q13) and IL21R (16p13.3). Worth mentioning, GEP analysis in AECTCL confirmed altered expression of CDKN2A, JAK3 and STAT6 genes. Although most genetic aberrations detected in our study have already been described in other lymphoproliferative disorders, we conclude that the combination of aberrations appears characteristic in these aggressive disorders. Disclosures: No relevant conflicts of interest to declare.