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CDKN2A germline mutation frequency estimates are commonly based on families with several melanoma cases. When we started counseling in a research setting on gene susceptibility analysis in northern and central Italy, however, we mostly found small families with few cases. Here we briefly characterize those kindred, estimate CDKN2A/CDK4 mutation test yields, and provide indications on the possibility of implementing formal DNA testing for melanoma-prone families in Italy. In September 1995 we started genetic counseling in a research setting at our Medical Genetics Center. Screening for CDKN2A/CDK4 mutations was performed on families with two melanoma patients, one of whom was younger than 50 years at onset, the other complying with one of the following: 1) being a first-degree relative, 2) having an additional relative with pancreatic cancer, or 3) having multiple primary melanomas. Sixty-two of 67 (80%) melanoma cases met our criteria. Four previously described CDKN2A mutations (G101W, R24P, V126D, and N71S) were found in 21 of the 62 families (34%) with a high prevalence of G101W (18/21). The percentage of families with two melanoma cases/family harboring a mutation was low (7%, 2/27), but rose to 45% (9/20) if one of the melanoma patients carried multiple melanomas or if pancreatic cancer was present in that family. In the 15 families with three melanoma cases the presence of a mutation was higher (67%, 10/15) and reached 100% in the 4 families with four or more melanoma cases. Our results suggest that CDKN2A/CDK4 counseling-based mutational analysis may be reasonably efficient also for families with two melanoma cases, if one patient carries multiple melanomas or if pancreatic cancer is present in the family.

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CDKN2A germline mutation frequency estimates are commonly based on families with several melanoma cases. When we started counseling in a research setting on gene susceptibility analysis in northern and central Italy, however, we mostly found small families with few cases. Here we briefly characterize those kindred, estimate CDKN2A/CDK4 mutation test yields, and provide indications on the possibility of implementing formal DNA testing for melanoma-prone families in Italy. In September 1995 we started genetic counseling in a research setting at our Medical Genetics Center. Screening for CDKN2A/CDK4 mutations was performed on families with two melanoma patients, one of whom was younger than 50 years at onset, the other complying with one of the following: 1) being a first-degree relative, 2) having an additional relative with pancreatic cancer, or 3) having multiple primary melanomas. Sixty-two of 67 (80%) melanoma cases met our criteria. Four previously described CDKN2A mutations (G101W, R24P, V126D, and N71S) were found in 21 of the 62 families (34%) with a high prevalence of G101W (18/21). The percentage of families with two melanoma cases/family harboring a mutation was low (7%, 2/27), but rose to 45% (9/20) if one of the melanoma patients carried multiple melanomas or if pancreatic cancer was present in that family. In the 15 families with three melanoma cases the presence of a mutation was higher (67%, 10/15) and reached 100% in the 4 families with four or more melanoma cases. Our results suggest that CDKN2A/CDK4 counseling-based mutational analysis may be reasonably efficient also for families with two melanoma cases, if one patient carries multiple melanomas or if pancreatic cancer is present in the family.

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The authors report the results of a randomized clinical trial of antibiotic prophylaxis for post-operative infection following breast reconstruction with the transverse rectus abdominis myocutaneous (TRAM) flap. The aim was to evaluate the efficacy and tolerability of short-term parenteral prophylaxis with teicoplanin; the endpoint of the study was the reduction of wound contamination assessed by microbiologic culture of drain fluid. From October 1990 to March 1992, 38 patients were recruited: 20 patients were included in the antibiotic prophylaxis arm (teicoplanin i.v. 400 mg one hour before operation and in the following 12 h plus 200 mg i.v. at 24 h after operation) and 18 patients in the control group. Analysis of drain fluid showed a higher contamination (15/18=83%) in the control group (Staphylococcus epidermides, Streptococcus alfa-emoliticus, Enterobacter aerogenes, Peptostreptococcus magnus)as compared to the prophylaxis arm with teicoplanin (2/20=10%) (Staphylococcus coagulase-negative) (p< 0.0001). Moreover, 11 patients in the control group suffered from fever > 37.5 ° C as compared to one patient in the antibiotic prophylaxis group (p<0.0001); the post-operation stay was 13.3+4.3 and 9.0_+1.6 in the control and antibiotic arm, respectively (p = 0.0002). There were no antibiotic related side effect in this study. These results seem to confirm the value of parenteral short-term antibiotic prophylaxis of post-operative infection in this type of "clean" operative procedure.