A pedigree with autosomal dominant thrombocytopenia, red cell macrocytosis, and an occurrence of t(12:21) positive pre-B acute lymphoblastic leukemia

Escher, Robert; Wilson, Peter; Carmichael, Catherine; Suppiah, Ram; Liu, Marjorie; Kavallaris, Maria; Cannon, Ping; Michaud, Joelle; Scott, Hamish S (2007). A pedigree with autosomal dominant thrombocytopenia, red cell macrocytosis, and an occurrence of t(12:21) positive pre-B acute lymphoblastic leukemia. Blood cells, molecules, & diseases, 39(1), pp. 107-14. San Diego, Calif.: Elsevier 10.1016/j.bcmd.2007.02.009

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Sampling and analyzing new families with inherited blood disorders are major steps contributing to the identification of gene(s) responsible for normal and pathologic hematopoiesis. Familial occurrences of hematological disorders alone, or as part of a syndromic disease, have been reported, and for some the underlying genetic mutation has been identified. Here we describe a new autosomal dominant inherited phenotype of thrombocytopenia and red cell macrocytosis in a four-generation pedigree. Interestingly, in the youngest generation, a 2-year-old boy presenting with these familial features has developed acute lymphoblastic leukemia characterized by a t(12;21) translocation. Tri-lineage involvement of platelets, red cells and white cells may suggest a genetic defect in an early multiliear progenitor or a stem cell. Functional assays in EBV-transformed cell lines revealed a defect in cell proliferation and tubulin dynamics. Two candidate genes, RUNX1 and FOG1, were sequenced but no pathogenic mutation was found. Identification of the underlying genetic defect(s) in this family may help in understanding the complex process of hematopoiesis.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

?? DCD5A442B9C7E17DE0405C82790C4DE2 ??

UniBE Contributor:

Escher, Robert

ISSN:

1079-9796

ISBN:

17434765

Publisher:

Elsevier

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 15:01

Last Modified:

08 Dec 2015 16:33

Publisher DOI:

10.1016/j.bcmd.2007.02.009

PubMed ID:

17434765

Web of Science ID:

000247299900015

URI:

https://boris.unibe.ch/id/eprint/26598 (FactScience: 73647)

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