Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease CTD_human
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE This case seems to represent an exceedingly rare instance of Ph1(+),i(17q) ALL in which the differential diagnosis between blast transformation of CML and Ph1(+) ALL was initially difficult to make. 1747460 1991
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Rearrangements in the BCR gene first intron, the so-called bcr2 and bcr3 regions, were detected in two other cases, one with an acute lymphoblastic leukemia (ALL) and one with mixed acute leukemia. 1993310 1991
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE In lymphoblastic leukemias, there are two molecular subtypes of the Ph1 chromosome, one with a rearrangement of the breakpoint cluster region (bcr) of the BCR gene, producing the same 8.5-kilobase BCR-ABL fusion mRNA seen in chronic myelogenous leukemia (CML), and the other, without a bcr rearrangement, producing a 7.0-kilobase BCR-ABL fusion mRNA that is seen only in acute lymphoblastic leukemia (ALL). 2498881 1989
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE A series of five single-copy genomic probes from the 70-kilobase first intron of BCR were used to localize rearrangements in 8 of 10 Philadelphia chromosome-positive ALLs. 2567002 1989
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE In CML the translocation breakpoint on chromosome 22 is within the breakpoint cluster region, while in childhood ALL, no detectable change in breakpoint cluster region is routinely observed. 3162827 1988
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Philadelphia (Ph1) chromosome breakpoints in acute lymphoblastic leukemia (ALL) are of two kinds: those within the breakpoint cluster region (bcr+), as in chronic myeloid leukemia (CML), and those outside it (bcr-). 3165301 1988
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Twenty patients had chronic myeloid leukemia in blast crisis (CML-BC), three had Ph+ de novo acute nonlymphocytic leukemia (ANLL), and five had de novo acute lymphoblastic leukemia (ALL). 3474891 1987
Childhood Acute Lymphoblastic Leukemia
0.400 AlteredExpression disease BEFREE None of the patients with ALL or CML-lymphoid-BC expressed SCL. 7579412 1995
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE Homozygous deletions of p16 exons were found in 5 of 10 (50%) patients with CML in lymphoid BC and in 5 (26%) ALL patients, but in only 1 (2%) case with AML. 7718873 1995
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE 95% of Chronic Myelocytic (CML) and 15-25% of Acute Lymphoblastic Leukemia (ALL) patients are Ph1 producing a fusion transcript between the abl proto-oncogene and the bcr gene. 8251913 1993
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Both retained the Ph1 chromosome and expressed the ALL type bcr/abl chimeric mRNA containing the junction of the first exon of BCR gene (e1) and second exon of c-abl gene (a2). 8428799 1993
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE We have now used the same technique, reverse transcription/polymerase chain reaction amplification of ABL-BCR transcripts, to study nine patients with Philadelphia (Ph) chromosome-positive acute lymphoblastic leukemia (ALL); seven expressed the P190 and two the P210 type of BCR-ABL fusion protein. 8490164 1993
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE In the present study, we analyzed blood or bone marrow smears of 46 patients (34 with chronic myeloid leukemia [CML] and 12 with acute lymphoblastic leukemia [ALL]) for the presence of a BCR-ABL fusion. 8625254 1996
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Southern blot analysis revealed no rearrangement in Mbcr1, and direct sequencing of the PCR product confirmed it to be the ALL-type mbcr1 fusion mRNA with the first exon of the BCR gene fused to ABL exon a2. 8756076 1996
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE We have described an unusual case of ALL in which ETV6 is found fused to the ABL gene; ABL is normally activated by fusion to the BCR gene in the 9:22 translocation. 9523202 1998
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Among hematopoietic malignancies, the highest frequencies of p15del and p16del were seen in acute lymphoblastic leukemia (ALL) (>30%) with striking rates in T-ALL (>50%), but also high rates in B cell precursor (BCP)-ALL (>20%); the rates of deletions in chronic lymphoid leukemia (CLL), multiple myeloma, acute and chronic myeloid leukemia (AML and CML), and myelodysplastic syndromes (MDS) were rather low, only some B cell and T cell lymphomas showed increased frequencies. 9639410 1998
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE This assay will identify both the CML- and ALL-type BCR-ABL transcripts encoded by the t(9;22), all described variants of the E2A-PBX1 transcripts encoded by the t(1;19), the MLL-AF4 transcripts encoded by the t(4;11), and all variants of TEL-AML1 encoded by the t(12;21). 9844930 1998
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE These findings suggest a role for the pre-BCR complex in the response of ALL cells to treatment and provide insight into the mechanism of steroid response in the treatment of pre-B ALL. 12154021 2002
Childhood Acute Lymphoblastic Leukemia
0.400 AlteredExpression disease BEFREE The BCR-ABL1 kinase expressed in acute lymphoblastic leukemia (ALL) drives malignant transformation of human pre-B cells. 14993251 2004
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE The Japan Adult Leukemia Study Group (JALSG) has recently started a phase 2 trial with intensive chemotherapy and imatinib for newly diagnosed BCR-AB-positive ALL patients, and we present here the interim results for the first 24 patients. 15315963 2004
Childhood Acute Lymphoblastic Leukemia
0.400 AlteredExpression disease BEFREE The BCR-ABL1 kinase expressed in acute lymphoblastic leukemia (ALL) drives malignant transformation of pre-B cells and prevents further development. 15611260 2005
Childhood Acute Lymphoblastic Leukemia
0.400 Biomarker disease BEFREE In all patients, normal and leukemic repopulating stem cells could successfully be separated prospectively, and notably, the size of the normal HSC compartment in ETV6-RUNX1 and P190 BCR-ABL1 ALLs was found to be unaffected by the expansive leukemic stem cell population. 15908956 2005
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE Detectable by fluorescence in situ hybridization (FISH), these losses of sequence include deletion of the 5' region of the ABL gene and the 3' region of BCR in chronic myeloid leukemia (CML) and acute lymphoblastic leukemia (ALL), as well as the 5' region of ETO in acute myeloid leukemia (AML) French-American-British type M2 associated with t(8;21), 3'MLL in AML and ALL, and 3' core-binding factor beta (CBFbeta) in AML associated with inv(16). 16213359 2005
Childhood Acute Lymphoblastic Leukemia
0.400 GeneticVariation disease BEFREE The Philadelphia chromosome (Ph) encoding the oncogenic BCR-ABL1 kinase defines a subset of acute lymphoblastic leukemia (ALL) with a particularly unfavorable prognosis. 17485517 2007