Spontaneous remission of congenital AML with skin involvement and t(1;11)(p32;q23)

Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/136016/1/pbc26269_am.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/136016/2/pbc26269.pd

t(12;13)(p13;q12) ETV6/FLT3

Review on t(12;13)(p13;q12) ETV6/FLT3 , with data on DNA, on the protein encoded, and where the gene is implicated

ETV6 (ets variant 6)

The ETV6 gene located at band 12p13 encodes a protein containing two major domains, the HLH (helix-loop-helix) domain, encoded by exons 3 and 4, and the ETS domain, encoded by exons 6 through 8, with in between the internal domain encoded by exon 5. ETV6 is a strong transcriptional repressor, acting through its HLH and internal domains. Five potential mechanisms of ETV6-mediated carcinogenesis have been identified: constitutive activation of the kinase activity of the partner protein, modification of the original functions of a transcription factor, loss of function of the fusion gene, affecting ETV6 and the partner gene, activation of a proto-oncogene in the vicinity of a chromosomal translocation and dominant negative effect of the fusion protein over transcriptional repression mediated by wild-type ETV6. Thirty-three ETV6 partner genes have been identified

t(3;12)(q26;p13) ETV6/MECOM - t(3;12)(q26;p13) ETV6/EVI1

Short communication on t(3;12)(q26;p13) ETV6/MECOM, with data on clinics, and the genes implicated

t(9;12)(q34;p13) ETV6/ABL1

Review on t(9;12)(q34;p13) ETV6/ABL1, with data on clinics, and the genes implicated

Simultaneous Translocation of Both TCR Loci (14q11) with Rare Partner Loci (Xq22 and 12p13) in a Case of T-lymphoblastic Leukemia

The most common recurrent cytogenetic abnormalities in T-lymphoblastic leukemia (T-acute lymphoblastic leukemia [T-ALL]) involve T-cell receptor (TCR) loci and a variety of partner genes, including HOX11, HOX11L2, MYC, and TAL1. In this report, we present a rare case involving simultaneous translocation of the TCR α/δ loci with different partner loci (Xq22 and 12p13); this resulted in a poor prognosis. Chromosomal analysis showed 46,Y,t(X;14)(q22;q11.2),t(12;14)(p13;q11.2) and FISH analysis by using a T-cell receptor alpha delta DNA probe, Split Signal (DakoCytomation, Denmark), showed translocations at the same TCR α/δ locus on both chromosomes. FISH with 2 bacterial artificial chromosome clones showed break apart signal, which suggests involvement of the IRS4 gene. To our knowledge, this is the first report of T-ALL in which both TCR α/δ loci were translocated with different partner loci, and 1 of the partner loci, Xq22, was a rare translocation partner locus that included IRS4 gene

t(11;22)(q13;q13) HRASLS5/PHF21B

Review on t(11;22)(q13;q13), with data on clinics, and the genes involved

Using Bacterial Artificial Chromosomes in Leukemia Research: The Experience at the University Cytogenetics Laboratory in Brest, France

The development of the bacterial artificial chromosome (BAC) system was driven in part by the human genome project in order to construct genomic DNA libraries and physical maps for genomic sequencing. The availability of BAC clones has become a valuable tool for identifying cancer genes. We report here our experience in identifying genes located at breakpoints of chromosomal rearrangements and in defining the size and boundaries of deletions in hematological diseases. The methodology used in our laboratory consists of a three-step approach using conventional cytogenetics followed by FISH with commercial probes, then BAC clones. One limitation to the BAC system is that it can only accommodate inserts of up to 300 kb. As a consequence, analyzing the extent of deletions requires a large amount of material. Array comparative genomic hybridization (array-CGH) using a BAC/PAC system can be an alternative. However, this technique has limitations also, and it cannot be used to identify candidate genes at breakpoints of chromosomal rearrangements such as translocations, insertions, and inversions

inv(3)(q21q26) RPN1/MECOM

review on inv(3)(q21q26) RPN1/MECO

t(10;17)(p15;q21) ZMYND11/MBTD1

Short communication on on t(10;17)(p15;q21) ZMYND11/MBTD1, with data on clinics, and the genes implicated