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Biomedical subjects

Giovanni Pellacani

Publications and source records attributed to Giovanni Pellacani.

At least 19 recordsLinked to original sources
PubMed2006

Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas.

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal-dominant disorder characterized by predisposition to colorectal cancer and extracolonic malignancies, frequent multiple primary tumors in the same patient, and early age of cancer onset. A main clinical variant of Lynch syndrome, Muir-Torre syndrome (MTS) is characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or keratoacanthoma. In our study, we have screened a cohort of 538 HNPCC patients, related to 57 HNPCC families, to detect sebaceous skin tumors and keratoacanthomas and the role of mismatch repair (MMR) genes, MLH1, MSH2, and MSH6, in their pathogenesis. Among the 57 HNPCC families, we have identified four MTS families and one suspected MTS family, in which sebaceous carcinoma was found in one HNPCC mutation carrier subject who did not show visceral malignancy. In four of these families, linked to two MLH1 mutations and to two MSH2 mutations, biomolecular characterization showed concordance among immunohistochemistry analysis and gene mutations. The evidences of our investigations show that MLH1 and MSH2 gene mutations have an equivalent etiopathological role both for Lynch syndrome and for MTS; hence, we propose a broadened clinical criteria for definition of Lynch syndrome that will include sebaceous adenoma, carcinoma, and keratoacanthoma.

Adaptor Proteins, Signal Transducing↗
PubMed2006

Baseline factors influencing decisions on digital follow-up of melanocytic lesions in daily practice: an Italian multicenter survey.

BACKGROUND: Guidelines for optimized use of digital follow-up of melanocytic lesions are not yet available, and little is known about inclusion criteria adopted in clinical practice. OBJECTIVE: Our purpose was to describe the frequency of digital follow-up adoption in melanoma screening, the characteristics of patients and lesions selected, and the predictors of duration of the intervals of digital follow-up. METHODS: Baseline characteristics of patients and lesions selected for digital follow-up in 12 Italian pigmented lesion clinics were examined. Predictors of a short follow-up interval ( 4.75) was associated only with a marginal effect on the scheduled duration of follow-up interval (OR 1.34, 95% CI 0.97-1.86). These findings were confirmed by a multivariate analysis. LIMITATIONS: The adoption of different digital dermoscopy systems in the participating centers may have limited the reliability of the TDS assigned by a central group to dermoscopy images. CONCLUSIONS: Practicing dermatologists who use digital epiluminescence microscopy in screening for melanoma decided to submit at least one melanocytic lesion to digital follow-up for approximately 1 patient for every 5 examined. This implies costs and time spent that need to be evaluated together with the benefits of this procedure from a large-scale perspective. The lack of well-defined guidelines for inclusion and exclusion criteria may hamper optimized use of digital follow-up in daily practice.

Adult↗
PubMed2006

High risk of cutaneous melanoma amongst carriers of the intercellular adhesion molecule-1 R241 allele.

We examined the relation between cutaneous melanoma risk and the intercellular adhesion molecule-1 (ICAM-1) gene single nucleotide polymorphisms G241R and K469E, as well as the circulating soluble form of ICAM-1 determined in plasma, in the population of Modena Province, northern Italy. Individuals carrying at least one R241 allele, versus those carrying the wild-type GG genotype, had a relative risk of melanoma of 4.3 (P = 0.022), whereas the K469E polymorphism was unrelated to disease risk. Soluble ICAM-1 levels above 10 ng/ml directly and strongly correlated with melanoma risk. In this population, individuals carrying the R241 allele of the ICAM-1 gene appeared to show an enhanced susceptibility to cutaneous melanoma, possibly because of increased ICAM-1 expression.

Alleles↗
PubMed2006

Asymmetry in dermoscopic melanocytic lesion images: a computer description based on colour distribution.

Digital dermoscopy improves the accuracy of melanoma diagnosis. The aim of this study was to develop and validate software for assessment of asymmetry in melanocytic lesion images, based on evaluation of colour symmetry, and to compare it with assessment by human observers. An image analysis program enabling numerical assessment of asymmetry in melanocytic lesions, based on the evaluation and comparison of CIE L*a*b* colour components (CIE L*a*b* is the name of a colour space defined by the Commission Internationale de l'Eclairage) inside image colour blocks, was employed on the recorded lesion images. Clinical evaluation of asymmetry in dermoscopic images was performed on the same image set employing a 0-1 scoring system. Asymmetry judgement was expressed by the clinicians for 12.8% of benign naevi, 44.7% of atypical naevi and 64.2% of malignant melanomas, whereas the computer identified as asymmetric 6.3%, 33.3% and 82.2%, respectively. Numerical parameters referring to malignant melanomas were significantly higher, both with respect to benign naevi and atypical naevi. The numerical parameters produced could be effectively employed for computer-aided melanoma diagnosis.

Databases as Topic↗
PubMed2005

Reflectance-mode confocal microscopy of pigmented skin lesions--improvement in melanoma diagnostic specificity.

BACKGROUND: In vivo confocal microscopy enables skin visualization with a quasihistopathologic resolution. OBJECTIVE: We sought to describe confocal features in melanocytic lesions and to evaluate their diagnostic significance for melanoma (MM) identification. METHODS: Thirty seven MMs, 49 acquired nevi, and 16 Spitz/Reed nevi, presenting equivocal clinicodermoscopic aspects were investigated by confocal microscopy. RESULTS: MMs and nevi significantly differed for some aspects. In multivariate analysis, the presence of nonedged dermal papillae, atypical cells, and isolated nucleated cells within dermal papilla, pagetoid cells, widespread pagetoid infiltration, and cerebriform clusters were strongly correlated with MM diagnosis. A receiver operating characteristic curve value of 0.952 was obtained. LIMITATIONS: Spitz/Reed nevi represented a pitfall in confocal diagnosis, owing to the frequent observation of pagetoid infiltration, architectural disarray, and cytologic atypia, and to the impossibility of evaluating cell maturation with depth. CONCLUSION: Characterization of confocal microscopy features of MMs and nevi seems to improve diagnostic accuracy for melanocytic lesions that are difficult to diagnose.

Diagnosis, Differential↗
PubMed2005

Identification of Muir-Torre syndrome among patients with sebaceous tumors and keratoacanthomas: role of clinical features, microsatellite instability, and immunohistochemistry.

BACKGROUND: The Muir-Torre syndrome (MTS) is an autosomal-dominant genodermatosis characterized by the presence of sebaceous gland tumors, with or without keratoacanthomas, associated with visceral malignancies. A subset of patients with MTS is considered a variant of the hereditary nonpolyposis colorectal carcinoma, which is caused by mutations in mismatch-repair genes. The objective of the current study was to evaluate whether a combined clinical, immunohistochemical, and biomolecular approach could be useful for the identification of Muir-Torre syndrome among patients with a diagnosis of sebaceous tumors and keratoacanthomas. METHODS: The authors collected sebaceous skin lesions and keratoacanthomas recorded in the files of the Pathology Department of the University of Modena during the period 1986-2000. Through interviews and examination of clinical charts, family trees were drawn for 120 patients who were affected by these skin lesions. RESULTS: Seven patients also were affected by gastrointestinal tumors, thus meeting the clinical criteria for the diagnosis of MTS. In the MTS families, a wide phenotypic variability was evident, both in the spectrum of visceral tumors and in the type of skin lesions. Microsatellite instability was found in five MTS patients: These patients showed concordance with immunohistochemical analysis; moreover, a constitutional mutation in the MSH2 gene was found in 1 patient. Lack of expression of MSH2/MSH6 or MLH1 proteins was evident in the skin lesions and in the associated internal malignancies of 3 patients and 2 patients with MTS, respectively. CONCLUSIONS: The clinical, biomolecular, and immunohistochemical characterization of sebaceous skin lesions and keratoacanthomas may be used as screening for the identification of families at risk of MTS, a disease that is difficult to recognize and diagnose.

Adult↗
PubMed2005

The spectrum of Spitz nevi: a clinicopathologic study of 83 cases.

OBJECTIVE: To achieve a clinicopathologic classification of Spitz nevi by comparing their clinical, dermoscopic, and histopathologic features. DESIGN: Eighty-three cases were independently reviewed by 3 histopathologists and preliminarily classified into classic or desmoplastic Spitz nevus (CDSN, n = 11), pigmented Spitz nevus (PSN, n = 14), Reed nevus (RN, n = 16), or atypical Spitz nevus (ASN, n = 14); the remaining 28 cases were then placed into an intermediate category (pigmented Spitz-Reed nevus, PSRN) because a unanimous diagnosis of either PSN or RN was not reached. SETTING: University dermatology and pathology departments and general hospital pathology departments. PATIENTS: A sample of subjects with excised melanocytic lesions. MAIN OUTCOME MEASURE: Frequency of dermoscopic patterns within the different histopathologic subtypes of Spitz nevi. RESULTS: Overlapping clinical, dermoscopic, and histopathologic findings were observed among PSN, RN, and PSRN, thereby justifying their inclusion into the single PSRN diagnostic category. Asymmetry was the most frequent indicator of histopathologic ASN (79%; n = 11); in only 4 cases did dermoscopic asymmetry show no histopathologic counterpart, and in those cases the discrepancy was probably the result of an artifact of the gross sampling technique carried out with no attention to the dermoscopic features. CONCLUSIONS: Among Spitz nevi, histopathologic distinction between PSN and RN is difficult, not reproducible, and may be clinically useless. A simple clinicopathologic classification of these neoplasms might therefore be structured as CDSN, PSRN, and ASN. Asymmetry should be assessed using both dermoscopic and histopathologic analysis, and reliability in histopathologic diagnosis may be enhanced by the simultaneous evaluation of the corresponding dermoscopic images.

Adolescent↗
PubMed2005

Microscopic in vivo description of cellular architecture of dermoscopic pigment network in nevi and melanomas.

OBJECTIVE: To characterize the microscopic aspects of the dermoscopic pigment network in vivo, by means of confocal scanning laser microscopy. DESIGN: Confocal imaging was performed on melanocytic lesions characterized by pigment network at dermoscopy. Some confocal architectural and cytologic features, as observed at the dermoepidermal junction, were morphologically described and quantified by means of a dedicated program. SETTING: University medical department. STUDY POPULATION: We studied confocal images of 15 melanomas, 15 dermoscopic atypical nevi, and 15 common nevi. MAIN OUTCOME MEASURES: Features referring to aspect, size, regularity, homogeneity, and infiltration of dermal papillae and to cellular size, regularity, and atypia were described by 2 observers on confocal images. Mean dermal papillary diameter, mean cell area, and shape irregularity were quantified by drawing papillae and cell contours on confocal images and measured with the use of a computer program. RESULTS: Pigment network in melanomas consisted of large basal cells that circumscribed small to medium-sized dermal papillae with marked cellular atypia, sometimes infiltrating dermal papillae. On the other hand, common acquired nevi were characterized by lack of atypical cells and edged dermal papillae. Atypical nevi presented intermediate characteristics between clearly benign and malignant lesions. CONCLUSION: Cellular atypia was the most sensitive feature for melanoma diagnosis, whereas the presence of nucleated cells infiltrating dermal papillae was the most specific one.

Biopsy, Needle↗
PubMed2005

Trace elements and melanoma.

Melanoma incidence has been steadily increasing in recent years in most western countries, thus suggesting a role of environmental risk factors. Among these determinants, it has been hypothesized that some trace elements of nutritional and toxicological interest may be implicated in the etiology of the disease. We examined patients with newly diagnosed melanoma of the skin and population controls from the Modena province northern Italy. Clinical and dietary data were collected through questionnaires, and toenails were sampled for trace element determination. Levels of cadmium, chromium, lead, selenium, zinc, copper and iron in toenails were measured by inductively coupled plasma optical emission spectrometry and by neutron activation analysis. Data obtained from 58 cases and 58 controls indicated higher levels of copper and lower concentrations of iron in melanoma patients, whilst no other differences were seen for the remaining elements. Patterns of correlations of zinc and copper with the estimated intake of some dietary factors were different between cases and controls. Results of the present study suggest that abnormal intake or metabolism of copper and of iron might be implicated in the etiology of melanoma, whilst they do not indicate an involvement of exposure to cadmium, chromium, lead, selenium and zinc in this disease.

Case-Control Studies↗
PubMed2005

In vivo assessment of melanocytic nests in nevi and melanomas by reflectance confocal microscopy.

In vivo reflectance confocal microscopy is a novel technique for the noninvasive study and diagnosis of the skin. The aim of this study was to describe and characterize the cytological and architectural aspects of cell clusters in melanocytic lesions observed by confocal microscopy, and to correlate them with routine histopathology. A total of 55 melanocytic lesions comprising 20 melanomas, 25 acquired nevi and 10 Spitz nevi were studied by means of reflectance confocal microscopy, dermoscopy and routine histopathology. Three different types of cell clusters at confocal microscopy observation (dense, sparse cell and cerebriform clusters) were identified and correlated with histopathology. Dense clusters appeared characteristic for benign lesions, although present in 13 out of 20 melanomas. Sparse cell clusters were more frequently observable in melanomas, but also sporadically present in one Spitz nevus. Moreover, cerebriform clusters were exclusively observed in five out of 20 melanomas. Confocal microscopy allowed the in vivo characterization of aspects of melanocytic nests and their exact correlation with histopathology.

Humans↗
PubMed2005

Environmental exposure to trace elements and risk of cutaneous melanoma.

PURPOSE: Our aim was to examine the risk of melanoma in association with exposure to trace elements of toxicological and nutritional interest. METHODS: We analyzed the concentrations of cadmium, lead, chromium, selenium, copper and zinc in toenails of 58 patients with newly diagnosed cutaneous melanoma as well as in 58 age- and sex-matched control subjects, randomly selected from the population of Modena province in northern Italy. RESULTS: Melanoma risk was substantially unrelated to toenail levels of cadmium, chromium, lead and selenium. Subjects with higher toenail copper levels showed an excess risk, both in the crude analysis and after adjusting for sun exposure and level of education, while in both analyses high iron concentrations were associated with a decreased risk of the disease. A weak direct association between zinc levels and melanoma risk also emerged in the multivariate analysis. CONCLUSIONS: Overall, these results do not suggest an involvement of heavy metals in melanoma etiology, while they do give some support to a possible role of zinc and, in particular, copper and iron exposure in influencing disease risk. However, these findings must be evaluated with caution due to the limited statistical stability of the point estimates.

Case-Control Studies↗
PubMed2005

A population-based case-control study of diet and melanoma risk in northern Italy.

OBJECTIVE: We aimed at examining the association between dietary constituents and risk of cutaneous melanoma. DESIGN: In an area of northern Italy we recruited 59 newly diagnosed melanoma patients and 59 age- and sex-matched population controls, to whom we administered a validated semi-quantitative food-frequency questionnaire. RESULTS: We found an excess risk of melanoma in subjects with a higher energy-adjusted intake of total polyunsaturated fatty acids and, in particular, of linoleic acid (relative risk = 2.16 for intake in the highest tertile compared with the lowest tertile, P for linear trend = 0.061). Conversely, disease risk was inversely associated with the consumption of soluble carbohydrates (relative risk = 0.34 for intake in the upper vs. the lowest tertile adjusting for total energy intake, P for linear trend = 0.046). No other dietary factors, including alcohol, vitamins and trace elements, correlated with melanoma risk. The association of melanoma risk with linoleic acid and soluble carbohydrates intakes was further strengthened in multivariate analysis, and when analysis was limited to females. CONCLUSIONS: Overall, these results indicate that an excess energy-adjusted intake of linoleic acid and a lower consumption of soluble carbohydrates may increase melanoma risk.

Case-Control Studies↗
PubMed2005

Reflectance-mode confocal microscopy for the in vivo characterization of pagetoid melanocytosis in melanomas and nevi.

Pagetoid infiltration of the epidermis by melanocytes is a relevant criterion for the histologic diagnosis of melanoma, although sporadically observable in benign lesions. Since in vivo reflectance-mode confocal microscopy enables the visualization of superficial layers at cellular-level resolution, the different aspects and the diagnostic significance of epidermal alterations and pagetoid cell infiltration were investigated on 84 benign and malignant melanocytic lesions by confocal microscopy and compared with histopathology. The observation of a disarranged pattern in superficial layers appeared characteristic for malignant lesions. In vivo identification of pagetoid cells, clearly present in the majority of melanomas and in a few benign lesions, seemed useful for melanoma diagnosis. An excellent concordance between confocal microscopy and histopathology was achieved. Moreover, identification of some characteristic features by confocal microscopy, such as large and numerous closely arranged cells extended to the stratum corneum, was strongly correlated with malignancy. In conclusion, confocal microscopy enabled a very good identification of melanocytes spreading upward in a pagetoid fashion in melanocytic lesions. Thus, when pagetoid melanocytosis is observable by means of confocal microscopy, melanoma diagnosis should be considered, whereas it cannot be excluded in the absence of pagetoid cells, lacking in at least 10% of malignant lesions.

Humans↗
PubMed2005

Acquired melanocytic lesions and the decision to excise: role of color variegation and distribution as assessed by dermoscopy.

BACKGROUND: Because melanoma may sometimes be difficult to differentiate from nevi with clinical atypia, many benign lesions also undergo surgical removal. OBJECTIVE: To assess color type and distribution in dermoscopic melanocytic lesion images and to analyze the influence of color parameters on the diagnostic process and the decision to excise. METHODS: Overall, 603 images, referring to 112 melanomas and 491 nevi, were retrospectively subdivided into four groups: "clearly benign," "follow-up," "dermoscopic atypical nevi," and "dermoscopic melanomas," according to their dermoscopic aspects. The frequency of color type, number, and asymmetry were evaluated on digital images. RESULTS: With respect to lesions not eligible for excision according to dermoscopy (but excised for cosmetic reasons), those excised with a suspicion of malignancy showed a higher number of colors, whose distribution was also more asymmetric. Moreover, the frequency of the presence of black and blue-gray progressively increased from clearly benign lesions to atypical nevi and dermoscopic melanomas. CONCLUSION: In dermoscopic images, color parameters are essential elements for the diagnosis of atypical nevus, which can be differentiated from both a clearly benign lesion and a melanoma. Furthermore, pigmentation asymmetry and the presence of blue-gray represent the main color features, which should lead to the decision to excise.

Decision Support Techniques↗
PubMed2005

Colors in atypical nevi: a computer description reproducing clinical assessment.

BACKGROUND/PURPOSE: Atypical nevi (AN) share some dermoscopic features with early melanoma (MM), and computer elaboration of digital images could represent a useful support to diagnosis to assess automatically colors in AN, and to compare the data with those referring to clearly benign nevi (BN) and MMs. METHODS: An image analysis program enabling the numerical description of color areas in melanocytic lesions was used on 459 videomicroscopic images, referring to 76 AN, 288 clearly BN and 95 MMs. RESULTS: Black, white and blue-gray were more frequently found in AN than in clearly BN, but less frequently than in MMs. Color area values significantly differed between the three groups. CONCLUSION: The clinical-morphological interpretation of the numerical data, based on the mathematical description of the aspect and distribution of different color areas in different lesion types may contribute to the characterization of AN and their distinction from MMs.

Algorithms↗
PubMed2004

In vivo confocal scanning laser microscopy of pigmented Spitz nevi: comparison of in vivo confocal images with dermoscopy and routine histopathology.

BACKGROUND: Spitz nevus is a benign melanocytic lesion sometimes mistakenly diagnosed clinically as melanoma. OBJECTIVE: Our aim was to evaluate in vivo reflectance-mode confocal scanning laser microscopy (CSLM) aspects of globular Spitz nevi and to correlate them with those of surface microscopy and histopathology. METHODS: A total of 6 Spitz nevi, with globular aspects on epiluminescence observation, were imaged with CSLM and subsequently excised for histopathologic examination. RESULTS: A close correlation among CSLM, epiluminescence, and histopathologic aspects was observed. Individual cells, observed in high-resolution confocal images, were similar in shape and dimension to the histopathologic ones. Lesion architecture was described on reconstructed CSLM images. Melanocytic nests corresponded to globular cellular aggregates at confocal microscopy and to globules at epiluminescence observation. Melanophages were clearly identified in the papillary dermis both by confocal microscopy and histopathology. CONCLUSION: In vivo CSLM enabled the identification of characteristic cytologic and architectural aspects of Spitz nevi, correlated with histopathology and epiluminescence microscopy observation.

Adult↗