Family with acute myelocytic leukemia, breast, ovarian, and gastrointestinal cancer. Academic Article uri icon

Overview

MeSH

  • Bone Marrow
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Lod Score
  • Male
  • Pedigree

MeSH Major

  • Breast Neoplasms
  • Chromosome Mapping
  • Gastrointestinal Neoplasms
  • Leukemia, Myeloid, Acute
  • Ovarian Neoplasms

abstract

  • 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.

publication date

  • August 2002

has subject area

  • Bone Marrow
  • Breast Neoplasms
  • Chromosome Mapping
  • Female
  • Gastrointestinal Neoplasms
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myeloid, Acute
  • Lod Score
  • Male
  • Ovarian Neoplasms
  • Pedigree

Research

keywords

  • Journal Article

Identity

Language

  • eng

PubMed ID

  • 12377407

Additional Document Info

start page

  • 8

end page

  • 14

volume

  • 137

number

  • 1