PMID- 10087952
OWN - NLM
STAT- MEDLINE
DCOM- 19990407
LR  - 20190816
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 109
IP  - 2
DP  - 1999 Mar
TI  - Detection of monosomy 7 in bone marrow by fluorescence in situ hybridization. A 
      study of Fanconi anemia patients and review of the literature.
PG  - 154-60
AB  - Monosomy 7 is frequently found in the bone marrow of patients with Fanconi anemia 
      (FA), marrow myelodysplasia, or acute myelogenous leukemia and is associated with 
      poor prognosis. In our laboratory, cytogenetic analysis of bone marrow from an FA 
      patient found 2 of 30 cells with monosomy 7, but the results of fluorescence in 
      situ hybridization (FISH) indicated that 83 of 207 cells (40%) had monosomy 7. 
      FISH was then used to analyze two earlier samples from the index case, neither of 
      which had monosomy 7 as determined by standard cytogenetics. The FISH analysis 
      determined that the first sample, taken 19 months earlier, had 8 of 200 cells 
      (4%) with monosomy 7 and the second sample. taken 7 months later, contained 43 of 
      200 cells (21.5%) with monosomy 7. These results indicate a slow evolution toward 
      monosomy 7 in the patient's bone marrow. Standard metaphase chromosome analysis 
      represents only spontaneously dividing cells, leading us to hypothesize that FISH 
      was detecting monosomy 7 in nondividing cells and that it might be useful in the 
      early detection of abnormal clones. To test this hypothesis, FISH was performed 
      on 13 bone marrow samples from nine patients with FA who did not exhibit monosomy 
      7 by cytogenetic analysis. Monosomy 7 was detected in 3.44% of nuclei in FA 
      patients and in 3% of nuclei in normal controls. To date, none of these nine FA 
      patients have developed monosomy 7 or leukemia. They are being monitored by 
      standard cytogenetics and by FISH to determine whether monosomy 7 develops and 
      whether it can be detected by FISH prior to its detection by standard 
      cytogenetics. As standard practice, we have adopted FISH analysis for monosomy 7 
      in all patients with FA.
FAU - Thurston, V C
AU  - Thurston VC
AD  - Department of Medical and Molecular Genetics, Indiana University School of 
      Medicine, Indianapolis 46202, USA.
FAU - Ceperich, T M
AU  - Ceperich TM
FAU - Vance, G H
AU  - Vance GH
FAU - Heerema, N A
AU  - Heerema NA
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Bone Marrow/*pathology/physiology
MH  - Child
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 7
MH  - Fanconi Anemia/*genetics/pathology
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - *Monosomy
MH  - Reference Values
MH  - Sensitivity and Specificity
EDAT- 1999/03/24 00:00
MHDA- 1999/03/24 00:01
CRDT- 1999/03/24 00:00
PHST- 1999/03/24 00:00 [pubmed]
PHST- 1999/03/24 00:01 [medline]
PHST- 1999/03/24 00:00 [entrez]
AID - S0165460898001678 [pii]
AID - 10.1016/s0165-4608(98)00167-8 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 1999 Mar;109(2):154-60. doi: 
      10.1016/s0165-4608(98)00167-8.