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  • New Main Page
    ...ollaborative project to document and describe chromosome and other genomic abnormalities in cancer. This resource is supported by the [http://www.cancergenomics.org ...e]] '''Structural Abnormalities''' '''[[:Category:Structural Abnormalities Chromosome 1|1]]'''
    7 KB (905 words) - 22:59, 20 November 2017
  • All Categories
    == Structural == * Structural Abnormalities
    10 KB (1,089 words) - 22:30, 20 November 2017
  • HAEM4Backup:B-Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1
    ...in the production of a ''BCR-ABL1'' fusion, also known as the Philadelphia chromosome (Ph+).   * Philadelphia chromosome
    8 KB (1,060 words) - 12:37, 3 November 2023
  • HAEM4Backup:Acute Myeloid Leukemia (AML) Megakaryoblastic with t(1;22)(p13.3;q13.1);RBM15-MKL1
    ...">Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic a ...cal fusions are expressed, the ''RBM15''-''MKL1'' fusion on the derivative chromosome 22 is the candidate oncoprotein because it contains all of the putative fun
    10 KB (1,334 words) - 12:32, 3 November 2023
  • HAEM4Backup:Acute Myeloid Leukemia (AML) with t(6;9)(p23;q34.1); DEK-NUP214
    ...">Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic a Accounts for 0.7-1.8% of AML, occurring in both children (median age of 13 years) and adults (median age of 35-44 years)<ref name=":0" />.
    10 KB (1,401 words) - 12:32, 3 November 2023
  • HAEM4Backup:Pure Erythroid Leukemia
    ...(5;12;7)(p15.1;p13;q32),der(7)t(5;12;7),der(12)del(12)p13p13)t(5;12;7),del(13)(q12q14) was reported in a two year old boy with PEL<ref name=":10" />. !Chromosome Number!!Gain/Loss/Amp/LOH!!Region
    15 KB (2,002 words) - 12:34, 3 November 2023
  • HAEM4Backup:Mixed Phenotype Acute Leukemia (MPAL) with t(9;22)(q34.1;q11.2); BCR-ABL1
    ...f>{{Cite journal|last=Manola|first=Kalliopi N.|date=2013|title=Cytogenetic abnormalities in acute leukaemia of ambiguous lineage: an overview|url=https://www.ncbi.n Many cases have other cytogenetic abnormalities in addition to the t(9;22) or a complex karyotype.
    12 KB (1,664 words) - 12:36, 3 November 2023
  • HAEM4Backup:Acute Myeloid Leukemia (AML) with t(9;11)(p21.3;q23.3); KMT2A-MLLT3
    ...">Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic a ...st8=Gitte|last9=Andersen|first9=Mette Klarskov|date=2003|title=Cytogenetic abnormalities in childhood acute myeloid leukaemia: a Nordic series comprising all childr
    12 KB (1,750 words) - 12:32, 3 November 2023
  • HAEM4Backup:Acute Myeloid Leukemia (AML) with BCR-ABL1
    ...ion. The t(9:22)(q34.1;q11.2) results in the formation of the Philadelphia chromosome and the chimeric BCR-ABL1 fusion gene. It is worth noting that the fusion g ...there are only a few cases described where acquisition of the Philadelphia chromosome upon disease relapse or transformation of antecedent myelodysplastic syndro
    18 KB (2,578 words) - 12:33, 3 November 2023
  • HAEM4Backup:T-cell lymphoblastic leukemia with t(7;14)(p15;q32)
    ...osomal abnormalities are detected in approximately 50% of T-ALL/LBL. Other abnormalities include cryptic deletions, often of tumor suppressor genes, and other somat Cytogenetic abnormalities of T-ALL/LBL usually involve rearrangements of the T cell receptor (TCR) ge
    7 KB (1,040 words) - 12:57, 3 November 2023
  • HAEM4:T-cell lymphoblastic leukemia with t(7;14)(p15;q32)
    ...osomal abnormalities are detected in approximately 50% of T-ALL/LBL. Other abnormalities include cryptic deletions, often of tumor suppressor genes, and other somat Cytogenetic abnormalities of T-ALL/LBL usually involve rearrangements of the T cell receptor (TCR) ge
    8 KB (1,082 words) - 14:00, 3 November 2023
  • HAEM4Backup:Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1
    ...the leukemia is not classified in the group of AML with recurrent genetic abnormalities due to clinical and prognostic differences. AML with t(8;21)(q22;q22) is a ...s involving chromosomes 8, 21 and a third chromosome occur; the derivative chromosome 8 in the t(8;21)(q22;q22) and the variant t(8;21;var) carries the RUNX1-RUN
    20 KB (2,953 words) - 12:32, 3 November 2023
  • HAEM4Backup:Acute Myeloid Leukemia (AML) with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2);GATA2, MECOM
    ...icance of WHO type inv(3)(q21q26.2)/t(3;3)(q21;q26.2) and various other 3q abnormalities in acute myeloid leukemia|url=https://www.ncbi.nlm.nih.gov/pubmed/20660833| #Other 3q abnormalities.
    17 KB (2,499 words) - 12:32, 3 November 2023
  • HAEM4Backup:Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
    ...the leukemia is not classified in the group of AML with recurrent genetic abnormalities due to clinical and prognostic differences. ...distinctive cytogenetic subtype of acute myeloid leukemia. Both of these chromosome rearrangements result in the CBFB-MYH11 gene fusion.
    27 KB (3,873 words) - 12:32, 3 November 2023
  • HAEM4Backup:B-Lymphoblastic Leukemia/Lymphoma, BCR-ABL1-Like
    ...p A.|last9=Bräundl|first9=Kathrin|date=2017|title=Adults with Philadelphia chromosome-like acute lymphoblastic leukemia frequently have IGH-CRLF2 and JAK2 mutati ...et al., (2017). B-lymphoblastic leukaemia/lymphoma with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic a
    19 KB (2,670 words) - 12:38, 3 November 2023
  • BRST5:Phyllodes Tumour
    |Relevant gene: ''EGFR.'' Amplified (and/or with structural rearrangement, most commonly loss of exons 2-7, also known as EGFRvIII) in ...ically relevant gene(s) unknown. Observed in 39-57% of malignant tumors, 7-13% of borderline tumors; not seen in benign tumors <ref name=":6" />.
    16 KB (2,255 words) - 13:27, 29 February 2024
  • HAEM4Backup:B-Lymphoblastic Leukemia/Lymphoma with Hypodiploidy
    ...mphoblastic leukemias. The majority of cases (>80%) fall within the 44-45 chromosome range. However, beyond this, there are three main groups, that although ra ...edscape Article, Drugs & Diseases, Hematology.</ref>. Hypodiploid ALL with chromosome numbers less than 44 is associated with poor prognosis.
    21 KB (2,882 words) - 12:37, 3 November 2023
  • HAEM4:B-Lymphoblastic Leukemia/Lymphoma with Hypodiploidy
    ...mphoblastic leukemias. The majority of cases (>80%) fall within the 44-45 chromosome range. However, beyond this, there are three main groups, that although ra ...edscape Article, Drugs & Diseases, Hematology.</ref>. Hypodiploid ALL with chromosome numbers less than 44 is associated with poor prognosis.
    21 KB (2,915 words) - 13:48, 3 November 2023
  • HAEM4Backup:TEMPI Syndrome
    Somatic Structural variants of translocation: |t(2;13)(2p22.3/q14.2)
    17 KB (2,353 words) - 12:42, 3 November 2023
  • HAEM4:TEMPI Syndrome
    Somatic Structural variants of translocation: |t(2;13)(2p22.3/q14.2)
    17 KB (2,397 words) - 16:35, 4 December 2023
  • HAEM4Backup:Blastic Plasmacytoid Dendritic Cell Neoplasm
    ....gov/pubmed/30350260|journal=Current Hematologic Malignancy Reports|volume=13|issue=6|pages=477–483|doi=10.1007/s11899-018-0489-z|issn=1558-822X|pmid=3 ...et age and shorter median survival<ref name=":5" />. ''RUNX2'', located on chromosome 6p21, is strongly expressed in pDCs and BPDCN cells. The t(6,8) generates m
    17 KB (2,329 words) - 12:35, 3 November 2023
  • HAEM4:Blastic Plasmacytoid Dendritic Cell Neoplasm
    ....gov/pubmed/30350260|journal=Current Hematologic Malignancy Reports|volume=13|issue=6|pages=477–483|doi=10.1007/s11899-018-0489-z|issn=1558-822X|pmid=3 ...et age and shorter median survival<ref name=":5" />. ''RUNX2'', located on chromosome 6p21, is strongly expressed in pDCs and BPDCN cells. The t(6,8) generates m
    17 KB (2,369 words) - 13:47, 3 November 2023
  • BRST5:Adenoid Cystic Carcinoma
    ...nih.gov/31105427|journal=Breast Cancer: Basic and Clinical Research|volume=13|pages=1178223419842185|doi=10.1177/1178223419842185|issn=1178-2234|pmc=6501 |Fusions involving ''MYB'' with other gene partners or complex structural abnormalities associated with ''MYB'' gene fusion generate more complex karyotypes. Loss
    19 KB (2,737 words) - 13:17, 29 February 2024
  • HAEM5:B-lymphoblastic leukaemia/lymphoma with hypodiploidy
    ...mphoblastic leukemias. The majority of cases (>80%) fall within the 44-45 chromosome range. However, beyond this, there are three main groups, that although ra ...edscape Article, Drugs & Diseases, Hematology.</ref>. Hypodiploid ALL with chromosome numbers less than 44 is associated with poor prognosis.
    30 KB (4,118 words) - 14:20, 13 December 2023
  • HAEM4:Acute Myeloid Leukemia (AML) with BCR-ABL1
    ...ion. The t(9:22)(q34.1;q11.2) results in the formation of the Philadelphia chromosome and the chimeric BCR-ABL1 fusion gene. It is worth noting that the fusion g ...there are only a few cases described where acquisition of the Philadelphia chromosome upon disease relapse or transformation of antecedent myelodysplastic syndro
    18 KB (2,576 words) - 13:45, 3 November 2023
  • HAEM4Backup:Anaplastic Large Cell Lymphoma, ALK-Negative
    ...ac|date=2012-09-13|title=Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas|url=http ...rst9=Kip|date=2012|title=Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas|url=http
    23 KB (3,346 words) - 12:52, 3 November 2023
  • HAEM4:Anaplastic Large Cell Lymphoma, ALK-Negative
    ...ac|date=2012-09-13|title=Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas|url=http ...rst9=Kip|date=2012|title=Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas|url=http
    24 KB (3,388 words) - 16:41, 4 December 2023
  • HAEM4Backup:High-Grade B-cell Lymphoma, Not Otherwise Specified (NOS)
    .... Jeffrey|date=2015-02|title=B-cell lymphomas with concurrent MYC and BCL2 abnormalities other than translocations behave similarly to MYC/BCL2 double-hit lymphomas ...pical immunophenotype (e.g. diffuse and strong BCL2 expression) or genetic abnormalities (e.g. a complex karyotype) are present<ref name=":0" /><ref name=":4">{{Cit
    17 KB (2,506 words) - 12:47, 3 November 2023
  • HAEM5:Blastic plasmacytoid dendritic cell neoplasm
    ....gov/pubmed/30350260|journal=Current Hematologic Malignancy Reports|volume=13|issue=6|pages=477–483|doi=10.1007/s11899-018-0489-z|issn=1558-822X|pmid=3 ...et age and shorter median survival<ref name=":5" />. ''RUNX2'', located on chromosome 6p21, is strongly expressed in pDCs and BPDCN cells. The t(6,8) generates m
    26 KB (3,637 words) - 14:21, 13 December 2023
  • HAEM4:High-Grade B-cell Lymphoma, Not Otherwise Specified (NOS)
    .... Jeffrey|date=2015-02|title=B-cell lymphomas with concurrent MYC and BCL2 abnormalities other than translocations behave similarly to MYC/BCL2 double-hit lymphomas ...pical immunophenotype (e.g. diffuse and strong BCL2 expression) or genetic abnormalities (e.g. a complex karyotype) are present<ref name=":0" /><ref name=":4">{{Cit
    18 KB (2,549 words) - 16:38, 4 December 2023
  • HAEM5:ALK-negative anaplastic large cell lymphoma
    ...ac|date=2012-09-13|title=Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas|url=http ...rst9=Kip|date=2012|title=Genome-wide analysis reveals recurrent structural abnormalities of TP63 and other p53-related genes in peripheral T-cell lymphomas|url=http
    32 KB (4,584 words) - 14:16, 13 December 2023
  • HAEM5:Acute myeloid leukaemia with BCR::ABL1 fusion
    ...ion. The t(9:22)(q34.1;q11.2) results in the formation of the Philadelphia chromosome and the chimeric BCR-ABL1 fusion gene. It is worth noting that the fusion g ...there are only a few cases described where acquisition of the Philadelphia chromosome upon disease relapse or transformation of antecedent myelodysplastic syndro
    26 KB (3,785 words) - 14:16, 13 December 2023
  • CNS5:Ganglioglioma
    ...st2=K.|last3=Comair|first3=Y. G.|date=1995-07|title=Cortical architectural abnormalities and MIB1 immunoreactivity in gangliogliomas: a study of 60 patients with in ...st2=K.|last3=Comair|first3=Y. G.|date=1995-07|title=Cortical architectural abnormalities and MIB1 immunoreactivity in gangliogliomas: a study of 60 patients with in
    23 KB (3,102 words) - 13:55, 25 February 2024
  • HAEM4Backup:Waldenstrom Macroglobulinemia
    ....nlm.nih.gov/23474147|journal=Clinical Lymphoma, Myeloma & Leukemia|volume=13|issue=2|pages=244–246|doi=10.1016/j.clml.2013.02.001|issn=2152-2669|pmid= ...s in lymphoplasmacytic lymphoma/Waldenström macroglobulinemia. Chromosomal abnormalities are associated with the polymorphous subtype and an aggressive clinical cou
    35 KB (4,909 words) - 12:40, 3 November 2023
  • HAEM5:High-grade B-cell lymphoma, NOS
    .... Jeffrey|date=2015-02|title=B-cell lymphomas with concurrent MYC and BCL2 abnormalities other than translocations behave similarly to MYC/BCL2 double-hit lymphomas ...pical immunophenotype (e.g. diffuse and strong BCL2 expression) or genetic abnormalities (e.g. a complex karyotype) are present<ref name=":0" /><ref name=":4">{{Cit
    26 KB (3,680 words) - 14:26, 13 December 2023
  • HAEM4Backup:Intravascular Large B-cell Lymphoma
    ...ging. Radiological findings are often non-specific, but frequently include abnormalities if the central nervous system is imaged using MRI, including hyperintense l ...of three cases of IVLBCL and a literature review, Khoury et al<ref name=":13" /> described case reports of breakpoints involving BCL6, CMYC, PAX5, BCL1,
    46 KB (6,456 words) - 12:45, 3 November 2023
  • HAEM4:Waldenstrom Macroglobulinemia
    ....nlm.nih.gov/23474147|journal=Clinical Lymphoma, Myeloma & Leukemia|volume=13|issue=2|pages=244–246|doi=10.1016/j.clml.2013.02.001|issn=2152-2669|pmid= ...s in lymphoplasmacytic lymphoma/Waldenström macroglobulinemia. Chromosomal abnormalities are associated with the polymorphous subtype and an aggressive clinical cou
    35 KB (4,949 words) - 16:33, 4 December 2023
  • HAEM4:Intravascular Large B-cell Lymphoma
    ...ging. Radiological findings are often non-specific, but frequently include abnormalities if the central nervous system is imaged using MRI, including hyperintense l ...of three cases of IVLBCL and a literature review, Khoury et al<ref name=":13" /> described case reports of breakpoints involving BCL6, CMYC, PAX5, BCL1,
    46 KB (6,495 words) - 13:54, 3 November 2023
  • HAEM5:Intravascular large B-cell lymphoma
    ...ging. Radiological findings are often non-specific, but frequently include abnormalities if the central nervous system is imaged using MRI, including hyperintense l ...of three cases of IVLBCL and a literature review, Khoury et al<ref name=":13" /> described case reports of breakpoints involving BCL6, CMYC, PAX5, BCL1,
    55 KB (7,745 words) - 14:29, 13 December 2023
  • ACMG technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders (2013)
    ...ics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders. ...errations and therapeutic outcomes. Molecular investigation of chromosomal abnormalities identified by standard methods has led to discovery of genes, and gene func
    59 KB (8,449 words) - 19:11, 27 July 2016
  • Recurrent Genomic Alterations in Pediatric and Adult Central Nervous System Tumors Detected by Chromosomal Microarray
    ...t7=Nicolas|last8=Jacob|first8=Karine|last9=Gerges|first9=Noha|date=2015-10-13|title=Non-random aneuploidy specifies subgroups of pilocytic astrocytoma an ...gal|first8=S.|last9=Jauch|first9=A.|date=2007-02-15|title=Frequent loss of chromosome 9, homozygous CDKN2A/p14(ARF)/CDKN2B deletion and low TSC1 mRNA expression
    103 KB (13,991 words) - 17:05, 20 April 2021
  • HAEM4Backup:Plasma Cell Myeloma
    ...8=Kyle|first8=R. A.|last9=Gertz|first9=M. A.|date=2003-02|title=Chromosome abnormalities clustering and its implications for pathogenesis and prognosis in myeloma|u ...heavy chain (IgH) translocations and dysregulated oncogenes in the partner chromosome
    73 KB (10,415 words) - 12:41, 3 November 2023
  • HAEM4:Plasma Cell Myeloma
    ...8=Kyle|first8=R. A.|last9=Gertz|first9=M. A.|date=2003-02|title=Chromosome abnormalities clustering and its implications for pathogenesis and prognosis in myeloma|u ...heavy chain (IgH) translocations and dysregulated oncogenes in the partner chromosome
    73 KB (10,453 words) - 13:51, 3 November 2023
  • HAEM5:Plasma cell myeloma / multiple myeloma
    |+Table 4: Cytogenetic abnormalities on clinical course and prognosis in multiple myeloma (adapted from Rajan an |Isolated monosomy 13,
    80 KB (11,414 words) - 14:36, 13 December 2023
  • HAEM4Backup:Primary Amyloidosis
    ...noglobulin deposition disease (Randall type). Relationship with structural abnormalities of immunoglobulin chains|url=https://linkinghub.elsevier.com/retrieve/pii/S ...ewald|first9=Gordon W.|date=2000|title=FISH Demonstrates Treatment-Related Chromosome Damage in Myeloid but not Plasma Cells in Primary Systemic Amyloidosis|url=
    40 KB (5,557 words) - 12:42, 3 November 2023
  • HAEM4:Primary Amyloidosis
    ...noglobulin deposition disease (Randall type). Relationship with structural abnormalities of immunoglobulin chains|url=https://linkinghub.elsevier.com/retrieve/pii/S ...ewald|first9=Gordon W.|date=2000|title=FISH Demonstrates Treatment-Related Chromosome Damage in Myeloid but not Plasma Cells in Primary Systemic Amyloidosis|url=
    40 KB (5,593 words) - 16:34, 4 December 2023
  • HAEM5:Immunoglobulin-related (AL) amyloidosis
    ...noglobulin deposition disease (Randall type). Relationship with structural abnormalities of immunoglobulin chains|url=https://linkinghub.elsevier.com/retrieve/pii/S ...ewald|first9=Gordon W.|date=2000|title=FISH Demonstrates Treatment-Related Chromosome Damage in Myeloid but not Plasma Cells in Primary Systemic Amyloidosis|url=
    48 KB (6,794 words) - 14:27, 13 December 2023
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