Table of Contents
Definition / general | Case reports | Microscopic (histologic) description | Positive stains | Molecular / cytogenetics descriptionCite this page: Mihova D. t(1;19)(q23;p13.3); TCF3::PBX1. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/leukemiapreBALLt119.html. Accessed December 18th, 2024.
Definition / general
- 5 - 6% of ALL; commonly detected by conventional cytogenetics in children
- E2A-PBX1 (TCF3-PBX1) is chimeric gene formed by t(1;19)(q23;p13.3) (Mol Cell Biol 1994;14:3938)
- High WBC counts, frequent CNS involvement
- In children (Blood 1984;63:721) and adults (Haematologica 2010;95:241), is no longer a poor prognostic factor due to intensive therapy and bone marrow transplantation
Case reports
- Child with t(1;19) without fusion transcript by PCR or Southern blot (Rinsho Ketsueki 2005;46:7)
Microscopic (histologic) description
- No distinct morphologic findings
Positive stains
Molecular / cytogenetics description
- Produces fusion transcript of PBX1 and E2A; occurs in balanced and unbalanced forms; unbalanced form is der(19)t(1;19)
- The reciprocal product of der(1)t(1;19) is lost and the normal chromosome 1 is duplicated (Leukemia 2001;15:95)
Notes:
- “Unbalanced translocations” means the exchange of chromosomal material is unequal resulting in extra or missing genes
- “der” means derivative chromosome - term is used when only one chromosome from a translocation is present, or when one chromosome has two or more structural abnormalities
