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Cited by 138Acute Myeloid Leukemia ResearchAcute Lymphoblastic Leukemia researchEpigenetics and DNA Methylation

Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe [see comments]

Fey, MF, Liechti-Gallati, S, von Rohr, A, Borisch, B, Theilkas, L, Schneider, V, Oestreicher, M, Nagel, S +2 more·1994·Blood
DOI 10.1182/blood.v83.4.931.931
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Abstract

About 80% to 90% of females are informative for X-inactivation/methylation analysis with the probe M27 beta, which would therefore seem attractive in assessing clonality in hematologic cell populations. Eighteen acute lymphoid or myeloid leukemias, three chronic lymphocytic leukemias, and three chronic myelogenous leukemias as well as 12 malignant non-Hodgkin's lymphomas mostly showed extremely skewed clonal X inactivation (median allelic cleavage ratio [ACR] of unmethylated/inactive M27 beta alleles was 50, range 1 to 100) or hypermethylation of both alleles. Two lymphomas showed random M27 beta X inactivation but clonal antigen-receptor gene rearrangements. In normal peripheral blood leukocytes from 105 healthy females aged 2 to 96 years, the median ACR was 2 (range 1 to 100). Thus, it was significantly lower than in the leukemias (P = .0001, Mann-Whitney test), but extremely skewed patterns (ACR > 10.8, ie, > 80th percentile) were seen not only in the leukemias but also in 21/105 samples (20%) of normal leukocytes, and significantly more frequent in a population of elderly women (aged 75 to 96 years) compared with healthy children (aged 2 to 8 years) and younger women (aged 20 to 58 years) (P = .00125; chi 2 test). We conclude that in a population of cells derived from the hematopoietic system where clonality is uncertain, skewed M27 beta patterns are not reliable indicators for the presence of a clonal neoplastic disorder. The basis for severe X-inactivation skewing is unclear at present, but this finding raises interesting questions regarding the composition of the hematopoietic stem cell pool.

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  • Studies of non-random X-chromosome inactivation in women led to the discovery that clonal hematopoiesis also occurs in individuals without cancer.

    “But in the 1990s, studies of non-random X-chromosome inactivation (XCI) in women led to the discovery that clonal hematopoiesis also occurs in individuals without cancer 18.”

    From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [18]

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Authors
Fey, M., Liechti-Gallati, S., von Rohr, A., Borisch, B., Theilkas, L., Schneider, V, Oestreicher, M., Nagel, S., Ziemiecki, A., & Tobler, A.
Affiliations
  • University Hospital of Bern (CH)
  • Institute of Medical Oncology, Inselspita, Berne, Switzerland.
ORCID
Borisch, B
Venue
Blood
Publisher
American Society of Hematology
Published
1994-02-15
Volume
83
Issue
4
Pages
931-938
ISSN
  • 0006-4971 (ISSN-L)
  • 1528-0020
DOI
10.1182/blood.v83.4.931.931
OpenAlex
W269456550
Cited by
138
References
39
Citations by year
2026: 4 · 2025: 6 · 2024: 3 · 2023: 10 · 2022: 11 · 2021: 11 · 2020: 10 · 2019: 8 · 2018: 5 · 2017: 3 · 2016: 3 · 2013: 1 · 2012: 1
FWCI
5.42
Type
journal article
Language
en
Open access
closed
Locations
  • Blood (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
  • Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Acute Lymphoblastic Leukemia research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
Keywords
X-inactivation skewing, clonality, hematopoietic cells, leukemia, lymphoma, X chromosome methylation, hematopoietic stem cells
MeSH terms
Acute Disease, Adult, Aged, Aged, 80 and over, Aging, Base Sequence, Child, Child, Preschool, Chronic Disease, Cloning, Molecular, Female, Hematopoiesis, Humans, Leukemia, Leukocytes, Lymphoma, Non-Hodgkin, Methylation, Middle Aged, Molecular Sequence Data, Polymorphism, Genetic, Reference Values, X Chromosome, Blotting, Southern, Restriction Mapping, DNA Probes, Polymerase Chain Reaction, DNA Primers

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