Family with acute myelocytic leukemia, breast, ovarian, and gastrointestinal cancer

Henry T. Lynch, Dennis D. Weisenburger, Brigid Quinn-Laquer, Carrie L. Snyder, Jane F. Lynch, Steven M. Lipkin, Warren G. Sanger

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


We report a multigeneration family in which hematologic cancers, particularly acute myelocytic leukemia (AML), and solid tumors were interspersed in cancer-prone lineages consistent with an autosomal dominant mode of genetic transmission. This combination of AML and solid tumors, in the absence of a known hereditary disorder such as the Li-Fraumeni syndrome, appears to be unique. This pedigree appears to support our hypothesis of a genetic susceptibility to both solid tumors and hematologic cancer in this kindred. Our study involved the genetic work-up of the family and the education of high-risk patients. Medical and pathology reports were retrieved for cross-referencing and verification of family reports. Blood collected through venipuncture and, when available, diagnostic bone marrow specimens were obtained for cytogenetic studies, inclusive of multiflour fluorescence in situ hybridization (M-FISH) and G-banding methods. Slides and tissue blocks were reviewed, when available. No constitutional chromosomal abnormality or rearrangement and no abnormal platelet count or function was identified in cancer-affected members or high-risk relatives in this family. However, two family members affected with AML exhibited abnormal acquired clones in their bone marrow specimens by both G-band studies and interphase FISH, both with a deletion of 5q.

Original languageEnglish (US)
Pages (from-to)8-14
Number of pages7
JournalCancer genetics and cytogenetics
Issue number1
StatePublished - Aug 2002

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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