Familial acute myeloid leukemia and DiGuglielmo syndrome Journal Article

Authors: Siebert, R.; Jhanwar, S.; Brown, K.; Berman, E.; Offit, K.
Article Title: Familial acute myeloid leukemia and DiGuglielmo syndrome
Abstract: A family is described in which two sisters developed acute myeloblastic leukemia (AML FAB M2) and erythroleukemia (FAB M6) at ages 60 and 53, 15 years apart. Their father was diagnosed as having chronic erythremic myelosis (DiGuglielmo syndrome) 24 years earlier at age 56. Cytogenetic analysis of bone marrow blasts in the patient with AML M2 revealed a complex hyperdiploid karyotype with clonal abnormalities -3, -5, del(5)(q13q23), -8, +i(8)(q10), -11, add(11) (q23), add(12)(p13), -13, +3mar. No environmental risk factors could be identified. Hematologic and cytogenetic analysis of all living first degree relatives of the affected persons revealed hematological abnormalities, but normal constitutional karyotypes of peripheral blood lymphocytes and no induction of cytogenetic abnormalities in folate deficient medium.
Keywords: adult; acute granulocytic leukemia; case report; chemotherapy; bone marrow; culture medium; chromosome aberration; cell culture; chromosome analysis; polycythemia vera; leukemia remission; peripheral lymphocyte; blast cell; corticotropin; acute myeloid leukemia; erythroleukemia; familial aggregation; human; male; female; priority journal; article; cortisone; diguglieimo syndrome
Journal Title: Leukemia
Volume: 9
Issue: 6
ISSN: 0887-6924
Publisher: Nature Publishing Group  
Date Published: 1995-06-01
Start Page: 1091
End Page: 1094
Language: English
PUBMED: 7596175
PROVIDER: scopus
Notes: Article -- Export Date: 28 August 2018 -- Source: Scopus