These results suggest increasing PTC incidence is largely attributable to greater diagnosis of small PTC, many of which are likely to have been asymptomatic, identified by neck ultrasonography and subsequent FNAB. However, the incidence of PTC larger than 1 cm in patients without history of preoperative FNAB has also risen, suggesting the occurrence of clinically relevant tumors may also have increased.

Adrenal lesions are common in MEN-1 and occur in association with pancreatic disease. Abdominal CT scan is more sensitive than ultrasonographic examination in detecting adrenal disease. Primary hypersecretory syndromes of the adrenal glands appear to be rare, and the majority of lesions follow an indolent clinical course.

Background: Germline variants in MC1R may increase risk of childhood/adolescent melanoma, but a clear conclusion is challenging because of the limited number of studies and cases. We evaluated the association of MC1R variants and childhood/adolescent melanoma in a large study comparing the prevalence of MC1R variants of childhood/adolescent melanoma patients to that among adult melanoma cases and unaffected controls. Methods: Phenotypic and genetic data on 233 childhood/adolescent (≤20 years) and 932 adult melanoma patients, and 932 unaffected controls, were gathered through the M-SKIP Project, the Italian Melanoma Intergroup and European centers. We calculated odds ratios (OR) for childhood/adolescent melanoma associated with MC1R variants by multivariable logistic regression. Subgroup analysis was done for children aged ≤18 and ≤14 years. Findings: Children and adolescents had a higher odds of carrying MC1R r variants than adults (OR:1•54; 95%CI:1•02-2•33), also when analysis was restricted to cases ≤18 years (OR:1•80; 95%CI:1•06-3•07). All the investigated variants except R160W showed a higher frequency in childhood/adolescent melanoma compared to adult melanoma, with significant results for V60L (OR:1•60; 95%CI:1•05-2•44) and D294H (OR:2•15; 95%CI:1•05-4•40). Compared to unaffected controls, childhood/adolescent melanoma patients had significantly higher frequencies of any MC1R variants.. Interpretation: Our pooled-analysis of childhood/adolescent patients with MC1R genetic data revealed that MC1R r variants were more prevalent in childhood/adolescent compared to adult melanoma especially in children ≤18 years. Our findings support the role of MC1R in childhood/adolescent melanoma susceptibility with a potential clinical relevance in developing early melanoma detection and preventive strategies.

A pedigree of autosomal dominant expression of multiple benign adnexal tumours is presented. Seven cases spanning three generations are discussed. The clinical manifestations of these tumours are quite variable, including multiple papules concentrated on the face, scalp nodules and a large turban tumour. One member of the family had a linear papular eruption involving one half of his body. Histopathology of all lesions demonstrated benign adnexal characteristics, including well-characterized eccrine spiradenomas, trichoepitheliomas and an eccrine cylindroma. The cutaneous tumours occurring in these patients have continued to develop during their lifetimes. The authors propose that this pedigree has phenotypic characteristics consistent with Brooke-Spiegler syndrome.

Exposure to ionizing radiation, changing levels of iodine nutrition, and increased pathologic diagnosis of clinically unimportant thyroid neoplasia have all been proposed as explanations for a worldwide rise in the incidence of thyroid carcinoma (TC) over the past 6 decades. Tasmania is geographically an area of endemic iodine deficiency. In this report, we describe the spectrum of TC in a population averaging 450,000 persons during a 21-yr period that spans the communities transition from iodine sufficiency to iodine deficiency after discontinuation of universal iodine prophylaxis in the mid 1980s. The Tasmanian Cancer Register was used to ascertain all cases of TC diagnosed in Tasmania between 1978 and 1998. Histopathological and demographic data were reviewed. A total of 289 cases of TC were identified. Papillary TC (PTC), follicular TC, medullary TC, and other species accounted for 62%, 23%, 4%, and 11% of cases, respectively. The age standardized incidence rate for total TC increased from 2.45 to 5.33 per 100,000 for females and 0.75 to 1.76 per 100,000 for males between 1978 and 1984 and 1992 and 1998, respectively. A rise in the incidence of PTC by 4.5-fold (P < 0.05) in females and 2.1-fold in males (not significant) was the dominant change over this period. In parallel, the proportion of follicular TC relative to PTC fell from 0.35 to 0.17 during these years (P < 0.05). The rise in PTC incidence was, in part, due to an increase in the occurrence of tumors 1cm or less in diameter. Nonetheless, a 3-fold rise in incidence of larger lesions was also observed during the study period. Forty-three (24%) PTC cases had multifocal disease, 17 (40%) of whom had bilateral tumors. Familial (autosomal dominant) PTC was identified in nine (5%) total PTC cases. Prior studies have linked iodine prophylaxis to a rise in the proportion of differentiated TC, particularly PTC. Our data suggest a complex relationship between iodine nutrition and thyroid tumorigenesis. Factors such as a long latency between changes in iodine nutrition and thyroid tumorigenesis, a dose threshold for the effect of iodine nutrition on thyroid tumorigenesis, and an interaction between iodine nutrition and thyroidal sensitivity to ionizing radiation may all play a role.