Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

Alter, Blanche P; Baerlocher, Gabriela M; Savage, Sharon A; Chanock, Stephen J; Weksler, Babette B; Willner, Judith P; Peters, June A; Giri, Neelam; Lansdorp, Peter M (2007). Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood, 110(5), pp. 1439-47. Washington, D.C.: American Society of Hematology 10.1182/blood-2007-02-075598

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Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to the telomere maintenance pathway; patients with DC have very short telomeres. We used multicolor flow fluorescence in situ hybridization analysis of median telomere length in total blood leukocytes, granulocytes, lymphocytes, and several lymphocyte subsets to confirm the diagnosis of DC, distinguish patients with DC from unaffected family members, identify clinically silent DC carriers, and discriminate between patients with DC and those with other bone marrow failure disorders. We defined "very short" telomeres as below the first percentile measured among 400 healthy control subjects over the entire age range. Diagnostic sensitivity and specificity of very short telomeres for DC were more than 90% for total lymphocytes, CD45RA+/CD20- naive T cells, and CD20+ B cells. Granulocyte and total leukocyte assays were not specific; CD45RA- memory T cells and CD57+ NK/NKT were not sensitive. We observed very short telomeres in a clinically normal family member who subsequently developed DC. We propose adding leukocyte subset flow fluorescence in situ hybridization telomere length measurement to the evaluation of patients and families suspected to have DC, because the correct diagnosis will substantially affect patient management.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory

UniBE Contributor:

Baerlocher, Gabriela M.

ISSN:

0006-4971

ISBN:

17468339

Publisher:

American Society of Hematology

Language:

English

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 14:54

Last Modified:

04 May 2014 23:15

Publisher DOI:

10.1182/blood-2007-02-075598

PubMed ID:

17468339

Web of Science ID:

000249151800016

URI:

https://boris.unibe.ch/id/eprint/22892 (FactScience: 37603)

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