PMID- 25374696
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20141106
LR  - 20211021
IS  - 2090-3219 (Print)
IS  - 2090-3227 (Electronic)
IS  - 2090-3227 (Linking)
VI  - 2014
DP  - 2014
TI  - A Novel Cryptic Three-Way Translocation t(2;9;18)(p23.2;p21.3;q21.33) with 
      Deletion of Tumor Suppressor Genes in 9p21.3 and 13q14 in a T-Cell Acute 
      Lymphoblastic Leukemia.
PG  - 357123
LID - 10.1155/2014/357123 [doi]
LID - 357123
AB  - Acute leukemia often presents with pure chromosomal resolution; thus, aberrations 
      may not be detected by banding cytogenetics. Here, a case of 26-year-old male 
      diagnosed with T-cell acute lymphoblastic leukemia (T-ALL) and a normal karyotype 
      after standard GTG-banding was studied retrospectively in detail by molecular 
      cytogenetic and molecular approaches. Besides fluorescence in situ hybridization 
      (FISH), multiplex ligation-dependent probe amplification (MLPA) and high 
      resolution array-comparative genomic hybridization (aCGH) were applied. Thus, 
      cryptic chromosomal aberrations not observed before were detected: three 
      chromosomes were involved in a cytogenetically balanced occurring translocation 
      t(2;9;18)(p23.2;p21.3;q21.33). Besides a translocation t(10;14)(q24;q11) was 
      identified, an aberration known to be common in T-ALL. Due to the three-way 
      translocation deletion of tumor suppressor genes CDKN2A/INK4A/p16, 
      CDKN2B/INK4B/p15, and MTAP/ARF/p14 in 9p21.3 took place. Additionally RB1 in 
      13q14 was deleted. This patient, considered to have a normal karyotype after low 
      resolution banding cytogenetics, was treated according to general protocol of 
      anticancer therapy (ALL-BFM 95).
FAU - Othman, Moneeb A K
AU  - Othman MA
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Kollegiengasse 10, 07743 Jena, Germany.
FAU - Rincic, Martina
AU  - Rincic M
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Kollegiengasse 10, 07743 Jena, Germany ; Croatian Institute of Brain 
      Research, Salata 12, 10000 Zagreb, Croatia.
FAU - Melo, Joana B
AU  - Melo JB
AD  - Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of 
      Coimbra, Azinhaga Santa Comba, Polo Ciencias da Saude, 3000-548 Coimbra, Portugal 
      ; Centro de Investigacao em Meio Ambiente, Genetica e Oncobiologia (CIMAGO), Rua 
      Larga, 3004-504 Coimbra, Portugal.
FAU - Carreira, Isabel M
AU  - Carreira IM
AD  - Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of 
      Coimbra, Azinhaga Santa Comba, Polo Ciencias da Saude, 3000-548 Coimbra, Portugal 
      ; Centro de Investigacao em Meio Ambiente, Genetica e Oncobiologia (CIMAGO), Rua 
      Larga, 3004-504 Coimbra, Portugal.
FAU - Alhourani, Eyad
AU  - Alhourani E
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Kollegiengasse 10, 07743 Jena, Germany.
FAU - Hunstig, Friederike
AU  - Hunstig F
AD  - Jena University Hospital, Friedrich Schiller University, Department of Internal 
      Medicine II (Oncology and Hematology), 07749 Jena, Germany.
FAU - Glaser, Anita
AU  - Glaser A
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Kollegiengasse 10, 07743 Jena, Germany.
FAU - Liehr, Thomas
AU  - Liehr T
AD  - Jena University Hospital, Friedrich Schiller University, Institute of Human 
      Genetics, Kollegiengasse 10, 07743 Jena, Germany.
LA  - eng
PT  - Journal Article
DEP - 20141008
PL  - United States
TA  - Leuk Res Treatment
JT  - Leukemia research and treatment
JID - 101591812
PMC - PMC4206928
EDAT- 2014/11/07 06:00
MHDA- 2014/11/07 06:01
PMCR- 2014/10/08
CRDT- 2014/11/07 06:00
PHST- 2014/07/25 00:00 [received]
PHST- 2014/09/18 00:00 [revised]
PHST- 2014/09/20 00:00 [accepted]
PHST- 2014/11/07 06:00 [entrez]
PHST- 2014/11/07 06:00 [pubmed]
PHST- 2014/11/07 06:01 [medline]
PHST- 2014/10/08 00:00 [pmc-release]
AID - 10.1155/2014/357123 [doi]
PST - ppublish
SO  - Leuk Res Treatment. 2014;2014:357123. doi: 10.1155/2014/357123. Epub 2014 Oct 8.