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.
| Original language | English |
|---|---|
| Pages (from-to) | 8-14 |
| Number of pages | 7 |
| Journal | Cancer Genetics and Cytogenetics |
| Volume | 137 |
| Issue number | 1 |
| DOIs | |
| State | Published - Aug 2002 |
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All Science Journal Classification (ASJC) codes
- Cancer Research
- Genetics
- Molecular Biology
Cite this
Family with acute myelocytic leukemia, breast, ovarian, and gastrointestinal cancer. / Lynch, Henry T.; Weisenburger, Dennis D.; Quinn-Laquer, Brigid; Snyder, Carrie L.; Lynch, Jane F.; Lipkin, Steven M.; Sanger, Warren G.
In: Cancer Genetics and Cytogenetics, Vol. 137, No. 1, 08.2002, p. 8-14.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Family with acute myelocytic leukemia, breast, ovarian, and gastrointestinal cancer
AU - Lynch, Henry T.
AU - Weisenburger, Dennis D.
AU - Quinn-Laquer, Brigid
AU - Snyder, Carrie L.
AU - Lynch, Jane F.
AU - Lipkin, Steven M.
AU - Sanger, Warren G.
PY - 2002/8
Y1 - 2002/8
N2 - 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.
AB - 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.
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UR - http://www.scopus.com/inward/citedby.url?scp=0036698248&partnerID=8YFLogxK
U2 - 10.1016/S0165-4608(02)00537-X
DO - 10.1016/S0165-4608(02)00537-X
M3 - Article
VL - 137
SP - 8
EP - 14
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
SN - 0165-4608
IS - 1
ER -