Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN)

Review on Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN), with data on clinics, and the genes involved

t(X;14)(q28;q11.2) TRA-TRD/MTCP1

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

t(7;11)(p15;p15) NUP98/HOXA13

Review on Renal cell carcinoma with t(X;1)(p11;p34) SFPQ/TFE3, with data on clinics, and the genes involved

Plasmablastic lymphoma (PBL)

Review on plasmablastic lymphoma, with data on clinics, and the genes involved

Second case of t(2;21)(q11.2;q22.3) in a child with T-cell acute lymphoblastic leukemia 30

Second case of t(2;21)(q11.2;q22.3) in a child with T-cell acute lymphoblastic leukemi

Mandatory chromosomal segment balance in aneuploid tumor cells

Copyright: Copyright 2013 Elsevier B.V., All rights reserved.Background: Euploid chromosome balance is vitally important for normal development, but is profoundly changed in many tumors. Is each tumor dependent on its own structurally and numerically changed chromosome complement that has evolved during its development and progression? We have previously shown that normal chromosome 3 transfer into the KH39 renal cell carcinoma line and into the Hone1 nasopharyngeal carcinoma line inhibited their tumorigenicity. The aim of the present study was to distinguish between a qualitative and a quantitative model of this suppression. According to the former, a damaged or deleted tumor suppressor gene would be restored by the transfer of a normal chromosome. If so, suppression would be released only when the corresponding sequences of the exogenous normal chromosome are lost or inactivated. According to the alternative quantitative model, the tumor cell would not tolerate an increased dosage of the relevant gene or segment. If so, either a normal cell derived, or, a tumor derived endogenous segment could be lost. Methods: Fluorescence in Situ Hybridization based methods, as well as analysis of polymorphic microsatellite markers were used to follow chromosome 3 constitution changes in monochromosomal hybrids. Results: In both tumor lines with introduced supernumerary chromosomes 3, the copy number of 3p21 or the entire 3p tended to fall back to the original level during both in vitro and in vivo growth. An exogenous, normal cell derived, or an endogenous, tumor derived, chromosome segment was lost with similar probability. Identification of the lost versus retained segments showed that the intolerance for increased copy number was particularly strong for 3p14-p21, and weaker for other 3p regions. Gains in copy number were, on the other hand, well tolerated in the long arm and particularly the 3q26-q27 region. Conclusion: The inability of the cell to tolerate an experimentally imposed gain in 3p14-p21 in contrast to the well tolerated gain in 3q26-q27 is consistent with the fact that the former is often deleted in human tumors, whereas the latter is frequently amplified. The findings emphasize the importance of even minor changes in copy number in seemingly unbalanced aneuploid tumors.publishersversionPeer reviewe

dic(17;20)(p11.2;q11.2)

Review on dic(17;20)(p11.2;q11.2), with data on clinics, and the genes involved