BACKGROUND: The hypotheses that Swedish patients with four or more primary tumours [including at least one cutaneous malignant melanoma (CMM)] harbour an increased number of CDKN2A (formerly p16) germline mutations, and that this group of patients show a predisposition to other tumours, e.g. nonmelanoma skin cancer (NMSC), were studied descriptively. So far the mutation 113insArg explains all CDKN2A-associated CMM in ethnic Swedes. OBJECTIVES: All patients with four or more primary tumours, of which at least one was a CMM, from the Southern Swedish Regional Tumour Registry, between 1958 and 1999, were included in this study. METHODS: Forty-four patients were found and subdivided into three groups according to having multiple CMM (group A) or single CMM +/- NMSC (groups B and C). Screening for the presence of the Swedish founder mutation 113insArg in blood or in tissue blocks was performed. RESULTS: Patients in group A were younger at the time of the first CMM diagnosis than patients in group B and group C. The 113insArg mutation was found in four of 44 patients (9%), three with multiple CMM. In group C (n = 14) no founder mutation was evident, while in group B (n = 15) one mutation carrier was found. Nonmutation carriers with multiple CMM (group A) also had a predilection for meningiomas and neurinomas (four patients) or multiple NMSC (three patients). In group B CMM were especially associated with adenocarcinomas but in group C CMM were associated with multiple NMSC. CONCLUSION: The association between meningiomas and neurinomas (no acoustic neurinoma was seen) might indicate a new syndrome. Patients in groups B and C may harbour unknown genetic defects, which could interact with different environmental risk factors.
BACKGROUND: The hypotheses that Swedish patients with four or more primary tumours [including at least one cutaneous malignant melanoma (CMM)] harbour an increased number of CDKN2A (formerly p16) germline mutations, and that this group of patients show a predisposition to other tumours, e.g. nonmelanoma skin cancer (NMSC), were studied descriptively. So far the mutation 113insArg explains all CDKN2A-associated CMM in ethnic Swedes. OBJECTIVES: All patients with four or more primary tumours, of which at least one was a CMM, from the Southern Swedish Regional Tumour Registry, between 1958 and 1999, were included in this study. METHODS: Forty-four patients were found and subdivided into three groups according to having multiple CMM (group A) or single CMM +/- NMSC (groups B and C). Screening for the presence of the Swedish founder mutation 113insArg in blood or in tissue blocks was performed. RESULTS:Patients in group A were younger at the time of the first CMM diagnosis than patients in group B and group C. The 113insArg mutation was found in four of 44 patients (9%), three with multiple CMM. In group C (n = 14) no founder mutation was evident, while in group B (n = 15) one mutation carrier was found. Nonmutation carriers with multiple CMM (group A) also had a predilection for meningiomas and neurinomas (four patients) or multiple NMSC (three patients). In group B CMM were especially associated with adenocarcinomas but in group C CMM were associated with multiple NMSC. CONCLUSION: The association between meningiomas and neurinomas (no acoustic neurinoma was seen) might indicate a new syndrome. Patients in groups B and C may harbour unknown genetic defects, which could interact with different environmental risk factors.
Authors: Sancy A Leachman; John Carucci; Wendy Kohlmann; Kimberly C Banks; Maryam M Asgari; Wilma Bergman; Giovanna Bianchi-Scarrà; Teresa Brentnall; Brigitte Bressac-de Paillerets; William Bruno; Clara Curiel-Lewandrowski; Femke A de Snoo; Tadeusz Debniak; Marie-France Demierre; David Elder; Alisa M Goldstein; Jane Grant-Kels; Allan C Halpern; Christian Ingvar; Richard F Kefford; Julie Lang; Rona M MacKie; Graham J Mann; Kurt Mueller; Julia Newton-Bishop; Håkan Olsson; Gloria M Petersen; Susana Puig; Darrell Rigel; Susan M Swetter; Margaret A Tucker; Emanuel Yakobson; John A Zitelli; Hensin Tsao Journal: J Am Acad Dermatol Date: 2009-10 Impact factor: 11.527
Authors: C Marian; A Scope; K Laud; E Friedman; F Pavlotsky; E Yakobson; B Bressac-de Paillerets; E Azizi Journal: Br J Cancer Date: 2005-06-20 Impact factor: 7.640