1.CSI Laboratories, Alpharetta, GA / e-Mail: email@example.com
T-cell prolymphocytic leukemia (T-PLL) is a rare and aggressive post-thymic lymphoid neoplasm characterized by recurrent chromosome rearrangements that lead to activation of the TCL1A (14q32.1) or the MTCP1 (Xq28) genes. In this report, we focus on the t(X ;14)(q28 ;q11.2), which is thought to occur in approximately 20% of T-PLL cases and leads to overexpression of the MTCP1 gene by relocation to the T-cell receptor alpha/delta (TRA/D) located at 14q11.2 locus. A rare variant of the t(X ;14) is the t(X ;7)(q28 ;q34) also leading to overexpression of MTCP1 this time by relocation to the T-cell receptor beta (TRB) locus. Approximately 80% of T-PLL cases, however, are characterized by the inv(14)(q11.2q32.1) and variants, which lead to the activation of the TCL1A (14q32.1) gene by relocation to the TRA/D or TRB gene loci. The additional abnormalities in cases with MTCP1 or TCL1A related abnormalities are similar and include gain of 8q usually in the form of i(8q), as well as deletions 6q, 9p, 11q, and 13q.
Aurelia M. Meloni-Ehrig
t(X;14)(q28;q11.2) TRA-TRD/MTCP1t(X;7)(q28;q34) TRB/MTCP1
Atlas Genet Cytogenet Oncol Haematol. 2016-03-01
Online version: http://atlasgeneticsoncology.org/haematological/2051/t(x;14)(q28;q11-2)