Human Gene Set: CASORELLI_APL_SECONDARY_VS_DE_NOVO_DN


Standard name CASORELLI_APL_SECONDARY_VS_DE_NOVO_DN
Systematic name M19979
Brief description Genes down-regulated in secondary APL (acute promyelocytic leukemia) compared to the de novo tumors.
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 ARCHIVED: Archived Founder gene sets that are referenced by current Hallmarks
      C2_NONE: ARCHIVED Curated
            C2_CGP: ARCHIVED 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 2: downregulated in sAPL
Related gene sets (show 3 additional gene sets from the source publication)

(show 12 gene sets from the same authors)
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Source species Homo sapiens
Contributed by Leona Saunders (MSigDB Team)
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identifier namespace
AFFY_HG_U133
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Version history 7.2: Moved to Archive due to mapping changes.

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