RESUMO
Our study involved two extended familial atypical multiple mole melanoma (FAMMM) kindreds wherein a sufficient number of informative, high genetic risk, and affected patients enabled collection of pertinent tissue samples (normal skin/fibroblasts and atypical nevi/melanocytes) for cytogenetic analysis, and peripheral blood lymphocytes for DNA usage for linkage studies. We observed marked chromosome instability, as evidence by increased frequencies of cells with chromosomal rearrangements (translocations, deletions, and inversions) in cell cultures from atypical nevi and normal skin. There was no evidence of linkage of the FAMMM disease locus to any of the markers for the short arm of chromosome 1p in these two families. Well-characterized FAMMM kindreds provide an opportunity for biomarker investigations for elucidating heterogeneity and, ultimately, improving cancer control.
Assuntos
Aberrações Cromossômicas , Síndrome do Nevo Displásico/genética , Adolescente , Adulto , Idoso , Células Cultivadas , Mapeamento Cromossômico , Feminino , Fibroblastos , Humanos , Escore Lod , Masculino , Melanócitos , Pessoa de Meia-Idade , LinhagemRESUMO
Midwest dermatologists minimally initiate or carry on in-depth genealogical investigations of patients with the cancer associated genodermatosis, the familial atypical multiple mole melanoma (FAMMM) syndrome. Their conceptualizations of the FAMMM syndrome varies over a wide spectrum and results in a range of clinical behaviour patterns in the care of these patients. If the clinical behavior of physicians with respect to patients with the FAMMM syndrome is a valid model for deducing patterns of clinical behavior in their practices then medical schools' curricula and continuation educational programs need significant revisions to correct these deficiencies in the delivery of health care.
Assuntos
Síndrome do Nevo Displásico/genética , Síndromes Neoplásicas Hereditárias/genética , Síndrome do Nevo Displásico/diagnóstico , Síndrome do Nevo Displásico/prevenção & controle , Testes Genéticos , Humanos , Anamnese , Melanoma/diagnóstico , Melanoma/genética , Melanoma/prevenção & controle , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/prevenção & controle , Fatores de Risco , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/prevenção & controleRESUMO
This survey of physicians covered their attitudes toward, knowledge of, and diligence in the integration of family history and its application to the care of patients with multiple atypical nevi. The respondents recognized the importance of a personal or family history of malignant melanoma and a medical genealogical investigation of the kindred, but they gave little attention to pursuing an in-depth genetic investigation of their patients' kindred. The data suggest that curricula in medical schools need to include not only the clinical expressions of genetic disorders but must emphasize the physicians' behavior skills pursuing genealogical investigative techniques in the preventive health care of patients and their kindred with hereditary cancers.
