Jornal de Síndromes Genéticas e Terapia Gênica
Acesso livre
ISSN: ISSN: 2157-7412
ISSN: ISSN: 2157-7412
Haneef Awan, Johanna Furuholmen, Geir E. Tjønnfjord, Bernt Ly, Tom Børge Johannesen, Anne Tierens, Jan Delabie and Viggo Jonsson
Familial malignant lymphoma, viz. more than two cases of malignant hematological disease in a family of which one diagnosis is malignant lymphoma, was seen in 43 (37 per cent) of the families in our database of familial malignant hematological disease. Genealogical examination of the 43 pedigrees after multiple ascertainment showed an equal amount of vertical transmissions (affected parent-offspring and grandparent-parent-offspring combinations) and non-vertical transmissions (affected uncle, aunt-nephew, niece, cousin combinations) without evident Mendelian pattern and no significant difference between observed and expected patrilineal and matrilineal lines in spite of a marked predominance of males. A marked pleiotropic diversity of involved diagnoses comprised 57 (93 per cent) lymphoproliferative- and 4 (7%) myeloproliferative diseases. Both Hodgkin’s lymphoma, non-Hodgkin’s lymphoma apart from the diffuse large B-cell lymphoma and chronic lymphocytic leukemia had a strong mutual association, and a weaker yet significant association to multiple myeloma and to diffuse large B-cell lymphoma. Compared with the number of patients in the population extracted from the crude age-adjusted incidences, the observed number of patients in familial disease was significantly higher interpreted as a stronger expression of congenic susceptibility among family members with reservations related to different environmental factors. Signs of anticipation in all combinations but no birth order effect were observed. It is discussed that an epigenetic parental genomic imprinting as a modifier for the segregation of linked susceptibility loci theoretically would bring about a similar pattern with male predominance and pleiotrophic diversity of diagnoses away from any Mendelian expectation.