Gene Set: CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_DN

Standard name CASORELLI_ACUTE_PROMYELOCYTIC_LEUKEMIA_DN
Systematic name M18635
Brief description Genes down-regulated in APL (acute promyeolocytic leukemia) blasts expressing PML-RARA fusion [GeneID=5371;5914] compared to normal promyeloblasts.
Full description or abstract Acute promyelocytic leukemia (APL) is a clonal expansion of hematopoietic precursors blocked at the promyelocytic stage. Gene expression profiles of APL cells obtained from 16 patients were compared to eight samples of CD34+-derived normal promyelocytes. Malignant promyelocytes showed widespread changes in transcription in comparison to their normal counterpart and 1020 differentially expressed genes were identified. Discriminating genes include transcriptional regulators (FOS, JUN and HOX genes) and genes involved in cell cycle and DNA repair. The strong upregulation in APL of some transcripts (FLT3, CD33, CD44 and HGF) was also confirmed at protein level. Interestingly, a trend toward a transcriptional repression of genes involved in different DNA repair pathways was found in APL and confirmed by real-time polymerase chain reactor (PCR) in a new set of nine APLs. Our results suggest that both inefficient base excision repair and recombinational repair might play a role in APLs development. To investigate the expression pathways underlying the development of APL occurring as a second malignancy (sAPL), we included in our study eight cases of sAPL. Although both secondary and de novo APL were characterized by a strong homogeneity in expression profiling, we identified a small set of differentially expressed genes that discriminate sAPL from de novo cases.
Collection C2: curated gene sets
      CGP: chemical and genetic perturbations
Source publication Pubmed 16990782   Authors: Casorelli I,Tenedini E,Tagliafico E,Blasi MF,Giuliani A,Crescenzi M,Pelosi E,Testa U,Peschle C,Mele L,Diverio D,Breccia M,Lo-Coco F,Ferrari S,Bignami M
Exact source Table 2S
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Organism Homo sapiens
Contributed by Leona Saunders (MSigDB Team)
Source platform AFFY_HG_U133
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