Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Atlas Journal Atlas Journal versus Atlas Database: the accumulation of the issues of the Journal constitutes the body of the Database/Text-Book. TABLE OF CONTENTS Volume 7, Number 2, Apr-Jun 2003 Previous Issue / Next Issue Genes AML1 (acute myeloid leukemia 1); CBFA2; RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) (21q22.3) - updated. Jean-Loup Huret, Sylvie Senon. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 163-170. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/AML1.html MAPK8 (mitogen-activated protein kinase 8) (10q11.21). Fei Chen. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 171-178. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/JNK1ID196.html MAPK9 (mitogen-activated protein kinase 9) (5q35). Fei Chen. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 179-184. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/JNK2ID426.html MAPK10 (mitogen-activated protein kinase 10) (4q21-q23). Fei Chen. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 185-190. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2003; 2 I URL : http://AtlasGeneticsOncology.org/Genes/JNK3ID427.html JUNB (19p13.2). Fei Chen. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 191-195. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/JUNBID178.html JUN-D proto-oncogene (19p13.1-p12). Fei Chen. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 196-200. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/JUNDID179.html JUN (V-Jun sarcoma virus 17 oncogene homolog (avian)) (1p32-p31). Fei Chen. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 201-206. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/JUNID151.html RECQL (12p12-p11). Mounira Amor-Guéret. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 207-210. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/RECQLID283.html BCL9 (B-cell CLL/lymphoma 9) (1q21). Jean-Loup Huret, Sylvie Senon. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 211-213. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/BCL9ID466.html WFDC1 (WAP four-disulfide core domain 1) (16q24.1). Raphael Saffroy, Antoinette Lemoine, Brigitte Debuire. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 214-219. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/WFDC1ID424.html ELL (eleven nineteen lysin rich leukemia gene) (19p13.1) - updated. Jay L Hess. Atlas Genet Cytogenet Oncol Haematol 2003; 2 II Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 220-224. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/ELL.html Leukaemias t(7;9)(q34;q34). Jacques Boyer. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 225-228. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0709q34q34ID1055.html t(7;19)(q34;p13). Jacques Boyer. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 229-232. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0719q34p13ID1060.html 3q rearrangements in myeloid malignancies. Bruce Poppe, Nicole Dastugue, Frank Speleman. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 233-238. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/3qrearrmyeloID1125.html t(2;21)(p11;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 239-240. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0221p11q22ID1261.html t(4;21)(q31;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 241-242. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0421q31q22ID1262.html t(5;21)(q13;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 243-244. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0521q13q22ID1174.html Atlas Genet Cytogenet Oncol Haematol 2003; 2 III t(6;21)(p22;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 245-246. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0621p22q22ID1266.html t(8;21)(q24;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 247-248. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0821q24q22ID1263.html t(12;21)(q24;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 249-250. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t1221q24q22ID1268.html t(14;21)(q22;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 251-252. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t1421q22q22ID1269.html t(15;21)(q22;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 253-254. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t1521q22q22ID1270.html t(20;21)(q13;q22). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 255-256. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t2021q13q22ID1264.html Solid Tumours Bone: Adamantinoma. Hans Marten Hazelbag, Pancras CW Hogendoorn. Atlas Genet Cytogenet Oncol Haematol 2003; 2 IV Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 257-262. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/AdamantinID5154.html Neuroendocrine tumors: Phaeochromocytoma. Anne-Paule Gimenez-Roqueplo. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 263-270. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/pheochromocytomaID5026.html Soft tissue tumors: an overview. Paola Dal Cin. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 271-283. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/softissuTumID5042.html Cancer Prone Diseases Deep Insights Heterochromatin, from Chromosome to Protein. Marie-Geneviève Mattei and Judith Luciani. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 284-299. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Deep/HeterochromatineDEEP.html The WNT Signaling Pathway and Its Role in Human Solid Tumors. Lin Thorstensen, Ragnhild A. Lothe. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 300-331. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Deep/WNTSignPathID20042.html Case Reports Educational Items Transcription factors. Valentina Guasconi, Hakima Yahi, Slimane Ait-Si-Ali. Atlas Genet Cytogenet Oncol Haematol 2003; 7 (2): 332-336. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Educ/TFactorsEng.html © Atlas of Genetics and Cytogenetics in Oncology and Haematology Atlas Genet Cytogenet Oncol Haematol 2003; 2 V X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching For comments and suggestions or contributions, please contact us [email protected]. Atlas Genet Cytogenet Oncol Haematol 2003; 2 VI Atlas of Genetics and Cytogenetics in Oncology and Haematology AML1 (acute myeloid leukemia 1) (updated: old version not available) RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) CBFA2 (core binding factor A2) Identity Other PEBPaB (polyomavirus enhancer binding protein aB) names Hugo RUNX1 Location 21q22.3 AML1 (21q22.3) in normal cells: clone dJ1107L6 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are wellcome: contact M Rocchi DNA/RNA DNA Diagram Description the gene spans a region of more than 120 kb Transcription transcription is from telomere to centromere --> the fusion gene is located on the 'other' chromosome (eg the der(8) of the t(8;21), the der(3) of the t(3;21)...); alternate splicing --> transcripts of 2, 3.3, ->7.5 and 8 kb Protein Atlas Genet Cytogenet Oncol Haematol 2003; 2 -163- Protein Diagram Description 250, 453 amino acids and other forms; forms heterodimers with CBFB Expression widely expressed, including hematopoietic cells at various stages of differenciation: role in haematopoiesis Localisation nuclear Function transcription factor (activator) for various hematopoietic-specific genes: binds to the core site 5' PyGPyGGTPy 3' of a number of promotors and enhancers, as in GM-CSF (granulocyte-macrophage colony stimulating factor, CSF1R (colony stimulating factor 1 receptor), TCRb sites (T cell antigen receptors), and myeloid myeloperoxidase Homology 1- Runt (drosophila): nuclear DNA binding protein; role in segmentation (embryology); 2- AML2 (also called: CBFA3, CBFa3, PEBPaC), located in 1p35-36, expressed in B lineage (3 and 5 kb RNA); AML3: (also called: CBFA1, CBFa1, PEBPaA) in 6p21; 3- cbfa family (mouse) Implicated in Entity Familial platelet disorder with predisposition to acute non lymphocytic leukemia Entity t(1;21)(p36;q22) treatment related acute non lymphocytic leukemia (ANLL) --> ?/ AML1 Entity t(2;21)(p11;q22) ANLL --> ?/ AML1 Entity t(3;21)(q26;q22)/ myelodysplastic syndrome (MDS) or ANLL --> - EVI1 or EAP/ MDS1 - AML1 Disease CML-BC of myeloid type; ANLL and MDS, often therapy related (secondary to antitopoisomerase II) Hybrid/Mutated 5' AML1 - 3' EAP or MDS1 or EVI1 Gene Entity t(4;21)(q31;q22) T-cell acute lymphoblastic leukemia (T-ALL) --> ?/ AML1 Entity t(5;21)(q13;q22) myelodysplastic syndrome (MDS) and ANLL --> ?/ AML1 Atlas Genet Cytogenet Oncol Haematol 2003; 2 -164- Entity t(8;21)(q22;q22)/ANLL. --> ETO - AML1 Disease ANLL, M2 mostly Prognosis CR is obtained; median survival (1.5-2 yrs) is the range with other