PMID- 10557048
OWN - NLM
STAT- MEDLINE
DCOM- 19991207
LR  - 20190915
IS  - 0887-6924 (Print)
IS  - 0887-6924 (Linking)
VI  - 13
IP  - 11
DP  - 1999 Nov
TI  - Extensive cytogenetic studies of clonality following interferon-alpha therapy in 
      chronic myeloid leukemia occurring in monosomic cells in a patient with Turner 
      syndrome mosaic.
PG  - 1749-53
AB  - In a 27-year-old female with Turner syndrome mosaic, Philadelphia (Ph) 
      chromosome-positive chronic myeloid leukemia (CML) occurred only in the monosomic 
      cells (45, Xc). Extensive cytogenetic studies, including triple-color 
      fluorescence in situ hybridization (FISH), revealed that Ph-positive monosomic 
      cells (45, Xc), Ph-negative monosomic cells and normal diploid cells (46, XX) 
      were present in her bone marrow at diagnosis. After successful interferon 
      therapy, the non-leukemia cells expanded and reconstituted normal hematopoiesis 
      resulting in complete cytogenetic response, following the selective suppression 
      of the monosomic Ph-positive leukemia clone. The ratio of Xc to XX cells in bone 
      marrow cells was significantly increased to that in skin fibroblasts. Moreover, 
      the ratio of Ph-positive cells to Ph-negative cells was found to be significantly 
      different between karyotyping and FISH. Studies of this quite unique case not 
      only confirmed the clonality of CML, effectiveness of interferon-alpha and X 
      chromosome imbalance among different tissues, but also demonstrated a discrepant 
      increase of the BCR/ABL-positive clone in CML. The latter supports the hypothesis 
      that reduced programmed cell death may be the primary mechanism responsible for 
      the expansion of the leukemia clone in CML. Our study verifies the importance of 
      extensive analysis of a neoplastic disease in patients with a constitutional 
      chromosomal abnormality.
FAU - Takeshita, A
AU  - Takeshita A
AD  - Division of Hematology, Department of Medicine III, Hamamatsu University School 
      of Medicine, Japan.
FAU - Shinjo, K
AU  - Shinjo K
FAU - Yamashita, M
AU  - Yamashita M
FAU - Fujisawa, S
AU  - Fujisawa S
FAU - Naito, K
AU  - Naito K
FAU - Ohnishi, K
AU  - Ohnishi K
FAU - Takahashi, K
AU  - Takahashi K
FAU - Matsui, H
AU  - Matsui H
FAU - Ohno, R
AU  - Ohno R
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Leukemia
JT  - Leukemia
JID - 8704895
RN  - 0 (Interferon-alpha)
RN  - EC 2.7.10.2 (Fusion Proteins, bcr-abl)
SB  - IM
MH  - Adult
MH  - Bone Marrow Cells/drug effects/pathology
MH  - Cell Count/drug effects
MH  - Chi-Square Distribution
MH  - Clone Cells/drug effects/pathology
MH  - Female
MH  - Fibroblasts/drug effects/metabolism/pathology
MH  - Fusion Proteins, bcr-abl/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Interferon-alpha/pharmacology/*therapeutic use
MH  - Karyotyping
MH  - Leukemia, Myelogenous, Chronic, BCR-ABL Positive/complications/*drug 
      therapy/*genetics/pathology/therapy
MH  - Leukemia, Myeloid, Chronic, Atypical, BCR-ABL 
      Negative/complications/genetics/pathology/therapy
MH  - Monosomy/*genetics/pathology
MH  - Mosaicism/*genetics/pathology
MH  - Remission Induction
MH  - Skin
MH  - Turner Syndrome/complications/*genetics/pathology
MH  - X Chromosome/genetics
EDAT- 1999/11/11 00:00
MHDA- 1999/11/11 00:01
CRDT- 1999/11/11 00:00
PHST- 1999/11/11 00:00 [pubmed]
PHST- 1999/11/11 00:01 [medline]
PHST- 1999/11/11 00:00 [entrez]
AID - 10.1038/sj.leu.2401528 [doi]
PST - ppublish
SO  - Leukemia. 1999 Nov;13(11):1749-53. doi: 10.1038/sj.leu.2401528.