Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.

BACKGROUND: The incidence of cutaneous melanoma is increasing in Italy, in parallel with the implementation of gene panels. Therefore, a revision of national genetic assessment criteria for hereditary melanoma may be needed. The aim of this study was to identify predictors of susceptibility variants in the largest prospective cohort of Italian high-risk melanoma cases studied to date. MATERIALS AND METHODS: From 25 Italian centers, we recruited 1044 family members and germline sequenced 940 cutaneous melanoma index cases through a shared gene panel, which included the following genes: CDKN2A, CDK4, BAP1, POT1, ACD, TERF2IP, MITF and ATM. We assessed detection rate according to familial status, region of origin, number of melanomas and presence and type of non-melanoma tumors. RESULTS: The overall detection rate was 9.47% (5.53% analyzing CDKN2A alone), ranging from 5.14% in sporadic multiple melanoma cases (spoMPM) with two cutaneous melanomas to 13.9% in familial cases with at least three affected members. Three or more cutaneous melanomas in spoMPM cases, pancreatic cancer and region of origin predicted germline status [odds ratio (OR) = 3.23, 3.15, 2.43, P < 0.05]. Conversely, age > 60 years was a negative independent predictor (OR = 0.13, P = 0.008), and was the age category with the lowest detection rate, especially for CDKN2A. Detection rate was 19% when cutaneous melanoma and pancreatic cancer clustered together. CONCLUSIONS: Gene panel doubled the detection rate given by CDKN2A alone. National genetic testing criteria may need a revision, especially regarding age cut-off (60) in the absence of strong family history, pancreatic cancer and/or a high number of cutaneous melanomas.

Primary cutaneous mucinous carcinoma of the cheek. Case report.

Primary mucinous carcinoma of the skin (MCS) is a rare neoplasia described for the first time by Lennox et al. in 1952 and formally reviewed by Mendoza and Helwing in 1971. It is an uncommon subtype of sweat gland tumor. MCS affects men (58,8%) more than women (41,2%). It tends to occur in more elderly individuals (average 62,6 years, range 8-87 years), although the disease has been reported in a patient as young as 8 years old. In the english Literature are described 100 case of MCS. MCS has a varied clinical onset, tipically presenting as an asymptomatic, slow-growning, painless, papular or nodular, subcutaneous or cutaneous, ranging from 5 mm to 120 mm. The lesion is frequently single and isolated red, pink, gray, blue or purple coulored. Telangiectasia may or not be present. The surface may be smooth, ulcerated or crusted. Local recurrence occurs frequently (29,4%) after conventional excision, but the rate of distant metastasis is low (9,6%). In fact this tumour is tipically avascular, a factor that help to explain its low rate of metastasis. In September 2007, a 69 year old white man was referred to our observation for the evaluation of a painless, superficial nodular mass in left cheek that had slowly grown over 1 year to 2x1,4 cm current measures. The lesion was excised. Microscopic examination revealed a mucinous cutaneous carcinoma of the skin. Investigations for a primary visceral malignancy, including CT total body and colonoscopy, were negative.

Aggressive scalp carcinoma with intracranial extension: a multidisciplinary experience of 25 patients with long-term follow-up.

Malignant skin cancer of the scalp with skull invasion, dural infiltration and brain involvement is a uncommon lesion. This scenario is most often encountered in patients where initial scalp lesions are not appropriately diagnosed or their extent is underestimated by the patient and/or the doctor. Our study is a retrospective review of 25 patients treated using a multidisciplinary approach (combined plastic surgery/neurosurgery procedure and neuro-oncological management). After a mean follow-up of 7 years, 22 patients did not show local recurrence or distant metastases of their primary disease. Overall, these 22 patients had excellent quality of life; however, three patients died from causes not related to their primary pathology. To obtain a complete and definitive cure, prompt diagnosis of scalp cancers followed by appropriate multidisciplinary management is strongly advised.

[Critical ischemia of the diabetic patient]. / L'ischemia critica nel paziente diabetico.

BACKGROUND: Critical ischemia of the lower limbs is the final result of diabetic arteriopathy. The surgeon is more and more forced to choose between amputation d emblée and the attempt to revascularization in very old patients and in deficient general conditions. Shall we point out some principle to address our strategy? METHODS: To answer this question we reviewed retrospectively our surgical choices and the results obtained during two years, from January 1997 to December 1998 (medium follow-up 11.3 months), at the Emergency Division of the Cannizzaro Hospital of Catania. In this period 143 diabetic patients were selected by our ambulatory. Of these, nineteen had a critical lower limb ischemia and therefore were submitted to a revascularization and/or amputation. All the revascularized patients were controlled by Doppler-sonography immediately after operation and then daily, till their discharge. Controls were done at the first, third, sixth month and after one year, except for patients who complained a new objective or subjective ischemic symptomatology. RESULTS: The primary patency rate was 84.2% and the secondary patency rate was 89.4%. The amputation rate due to the procedure failure was 5%. The complications were three: two graft infections (10.5%) and one early thrombosis of a femoro-popliteal bypass graft, due to technical defect (5.2%). Perioperative mortality rate was 15.7%. CONCLUSIONS: These results, if related with those reported in the letterature about amputations, are in favour of the attempt to revascularization.

Oxyphil cell adenoma (oncocytoma) of the lacrimal caruncle: a case report.

The onset of oncocytic neoplasms in the ocular area is exceptional. A rare case of oxyphil cell adenoma of the lacrimal caruncle in an 81-year-old woman is presented. The anatomo-clinical profile of this benign small tumor is drawn up: a slowly growing tumor, generally occurring in the caruncle of elderly women, which is characterized by a uniform population of epithelial cells with eosinophilic finely-granular cytoplasm containing large numbers of mitochondria. The histogenetic problem of this tumor is briefly discussed.