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Acral melanoma (AM) is a rare and aggressive subtype of melanoma affecting the palms, soles, and nail apparatus with similar incidence among different ethnicities. AM is unrelated to ultraviolet radiation and has a low mutation burden but frequent chromosomal rearrangements and gene amplifications. Next generation sequencing of 33 genes and somatic copy number variation (CNV) analysis with genome-wide single nucleotide polymorphism arrays were performed in order to molecularly characterize 48 primary AMs of Italian patients in association with clinicopathological and prognostic features. BRAF was the most commonly mutated gene, followed by NRAS and TP53, whereas TERT promoter, KIT, and ARID1A were less frequently mutated. Gains and losses were recurrently found in the 1q, 6p, 7, 8q, 20 and 22 chromosomes involving PREX2, RAC1, KMT2C, BRAF, CCND1, TERT, and AKT3 genes, and in the 6q, 9, 10, 11q and 16q chromosomes including CDKN2A, PTEN, and ADAMTS18 genes, respectively. This study confirmed the variety of gene mutations and the high load of CNV in primary AM. Some genomic alterations were associated with histologic prognostic features. BRAF mutations, found with a higher rate than previously reported, correlated with a low Breslow thickness, low mitotic count, low CNV of the AMs, and with early-stage of disease.

Introduzione: Le differenze geografiche nell'incidenza del melanoma e nella penetranza delle mutazioni di CDKN2A, principale gene di suscettibilità al melanoma, sono tali che non esistono criteri per indirizzare un paziente al test genetico applicabili in modo uniforme a livello internazionale. Leachman et al. hanno proposto che due eventi oncologici (melanoma e/o adenocarcinoma pancreatico, associato anch'esso a mutazioni di CDKN2A) in un singolo paziente o in un famiglia siano considerati criterio sufficiente per il test genetico nelle aree a bassa incidenza di melanoma(1). L'Italia è inclusa fra queste aree sulla base dei dati liguri in cui mutazioni da effetto fondatore sono state riscontrate anche nel 40% dei casi familiari di melanoma. Lo studio basato sulle raccomandazioni SIGU per l'ammissione al test per il melanoma familiare ha riscontrato mutazioni di CDKN2A nel 25% dei casi familiari con due soli affetti (2), che aumentavano in presenza di casi di melanoma multiplo (MPM). Altri geni di predisposizione al melanoma sono stati identificati di recente ma la penetranza delle nuove mutazioni non è ancora stata chiarita. Scopo principale del nostro studio è stato di valutare su base nazionale la prevalenza di mutazione in CDKN2A, CDK4 e MITF in casi di MPM per stabilire se anche in assenza di familiarità lo sviluppo di MPM possa essere considerato criterio sufficiente di avvio al test genetico. Materiali e metodi: 587 casi di melanoma multiplo e un numero uguale di casi di melanoma singolo e controlli sono stati consecutivamente reclutati nei centri partecipanti e analizzati per CDKN2A, CDK4 e MITF. Risultati Mutazioni di CDKN2A sono state riscontrate nel 19% dei casi di melanoma multiplo e nel 4.4% dei casi di melanoma singolo, compresi melanomi in situ. Nei casi multipli familiari il rate di mutazione varia dal 36.6% al 58.8% mentre nei casi sporadici dall'8.2% al 17.6% nei casi con due o con 3 o più melanomi, rispettivamente. La mutazione MITF E318K è stata riscontrata nel 3% dei casi di melanoma multiplo. Conclusioni I pazienti italiani con due melanomi, anche in situ, e senza familiarità dovrebbero essere indirizzati alla valutazione genetica. Bibliografia 1.Leachman, S. A. et al. Selection criteria for genetic assessment of patients with familial melanoma. Journal of the American Academy of Dermatology 61, (2009) 2.Bruno, W. et al. Clinical genetic testing for familial melanoma in Italy: A cooperative study. J. Am. Acad. Dermatol. 61, 775-782 (2009)

In recent times, ionospheric and magnetospheric perturbations constituted by radiation belt particle precipitations, variations of temperature and density of ionic and electronic components of ionospheric plasma as well as electric and magnetic field fluctuations have been detected on board of the LEO satellites and associated with earthquake preparation and occurrence. Several mechanisms have been suggested as justifying the seismoelectromagnetic phenomena observed in the upper lithosphere and in the topside ionosphere before, during and after an earthquake. Their propagation in these media has also been investigated, but physical knowledge of such processes is below standard. Consequently, coordinated space and ground-based observations based on data gathered simultaneously in space and at the Earth’s surface are needed to investigate seismo-associated phenomena. To this end, the ESPERIA space mission project has been designed for the Italian Space Agency (ASI). To date, a few instruments of its payload have been built and tested in space. This paper reports on the justification, science background, and characteristics of the ESPERIA mission project as well as the description and testing of ESPERIA Instruments (ARINA and LAZIO-EGLE) in space.

Osteoid osteoma constitutes 10-12% of all benign neoplasms of the bone. The tumor more frequently involves the male sex (male to female ratio 2.1:1) and it may be observed in all age groups, with evident predilection for the second decade of life. All of the skeletal segments may be affected, but the most frequent site is the long bones, in the diaphyseal, metaphyseal and more rarely epiphyseal regions. The lesion is characterized by an osteolytic area, the nidus, which is at times partially calcified, surrounded by an osteosclerotic zone that is more or less accentuated. Clinical suspicion and traditional radiography are essential in diagnostic orientation; usually, further imaging methods are also recommended, such as bone scan with Tc99, CT scan and MRI. This last method allows for easy localization of the lesion, although with a sensitivity that is less than that of the CT scan. Nonetheless, the finding, if not supported by clinical suspicion, may be dangerously deviating and it may orient diagnosis towards a more aggressive disease.

This paper presents a fully electronic label-free DNA chip in 0.5-mu m CMOS technology, with 5-V supply voltage, suitable for low-cost highly integrated applications. The chip features an array of 128 sensor sites with gold electrodes and integrated measurement, conditioning, multiplexing and analog-to-digital conversion circuitry. The circuits measure capacitance variations due to DNA hybridization on the gold electrodes which are bio-modified by covalently attaching probes of known sequence. Specificity, repeatability and parallel detection capability of the fabricated chip are successfully demonstrated.