STANDARD_NAME CASORELLI_APL_SECONDARY_VS_DE_NOVO_UP SYSTEMATIC_NAME M13339 COLLECTION C2:CGP MSIGDB_URL https://www.gsea-msigdb.org/gsea/msigdb/human/geneset/CASORELLI_APL_SECONDARY_VS_DE_NOVO_UP NAMESPACE AFFY_HG_U133 DESCRIPTION_BRIEF Genes up-regulated in secondary APL (acute promyelocytic leukemia) compared to the de novo tumors. DESCRIPTION_FULL 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. PMID 16990782 GEOID 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 CONTRIBUTOR Leona Saunders CONTRIBUTOR_ORG MSigDB Team EXACT_SOURCE Table 2: upregulated in sAPL FILTERED_BY_SIMILARITY EXTERNAL_NAMES_FOR_SIMILAR_TERMS EXTERNAL_DETAILS_URL SOURCE_MEMBERS 200770_s_at,200771_at,200782_at,201341_at,202007_at,202768_at,203184_at,203501_at,203765_at,204225_at,205016_at,205090_s_at,206631_at,206715_at,208470_s_at,209189_at,209474_s_at,209581_at,210220_at,210944_s_at,211742_s_at,212116_at,213006_at,213119_at,213698_at,214830_at,216027_at,218728_s_at,218831_s_at,218865_at,219049_at,219090_at,219373_at,219694_at,219885_at,219892_at,220305_at,220603_s_at,221841_s_at,222043_at,57588_at,58780_s_at GENE_SYMBOLS LAMC1,LAMC1,ANXA5,ENC1,NID1,FOSB,FBN2,CPQ,GCA,HDAC4,TGFA,NAGPA,PTGER2,TFEC,HP,FOS,ENTPD1,PLAAT3,FZD2,CAPN3,EVI2B,TRIM27,,SLC36A1,TMEM35B,SLC38A6,TMX4,CNIH4,FCGRT,MTARC1,CSGALNACT1,SLC24A3,DPM3,OTULINL,SLFN12,TM6SF1,MAVS,MCTP2,KLF4,CLU,SLC24A3,ARHGEF40 FOUNDER_NAMES