KEGG   DISEASE: B lymphoblastic leukemia/lymphomaHelp
Entry
H00001                      Disease                                

Name
B lymphoblastic leukemia/lymphoma
Description
Acute lymphocytic leukemia (ALL) is a clonal stem cell malignancy of excessive lymphoblast proliferation. It is now understood that ALL and lymphoblastic lymphoma are the same disease entities at the morphologic and immunophenotypic levels and classified as either B- and T-cell lymphoblastic leukemia/lymphoma (B-ALL and T-ALL). In the case of B-ALL, numerous reports have demonstrated that recurring genetic abnormalities are associated with sufficiently unique clinical, immunophenotypic, and/or prognostic features so that they can be considered as distinct entities. The most common rearrangements observed in B-ALL are the t(12;21) (p13;q22) rearrangement resulting in expression of the ETV6-RUNX1 fusion (TEL-AML1); the t(1;19) (q23;p13) translocation that results in expression of the TCF3 (E2A) fusion partner, (also known as TCF3) TFPT-PBX1 fusion (E2A-PBX); the t(9;22) (q34;q11.2) "Philadelphia" chromosome resulting in expression of the BCR-ABL1 fusion; and rearrangements of MLL (also known as KMT2A) at 11q23 to a diverse array of fusion partners. If none of these specific genetic abnormalities are found, the designation of "B lymphoblastic leukemia/lymphoma, not otherwise specified," is appropriate.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of haematopoietic and lymphoid tissues
   H00001  B lymphoblastic leukemia/lymphoma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Precursor lymphoid neoplasms
    2A70  Precursor B-lymphoblastic neoplasms
     H00001  B lymphoblastic leukemia/lymphoma
Tumor markers [br08442.html]
 H00001
BRITE hierarchy
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
N00117  E2A-PBX1 fusion to transcriptional activation
N00118  TEL-AML1 fusion to transcriptional repression
N00119  MLL-AF4 fusion to transcriptional activation
Gene
BCR-ABL (translocation) [HSA:25] [KO:K06619]
MLL-AF4 (translocation) [HSA:4297 4299] [KO:K09186 K15184]
E2A-PBX1 (translocation) [HSA:6929 5087] [KO:K09063 K09355]
TEL-AML1 (translocation) [HSA:861] [KO:K08367]
c-MYC (rearrangement) [HSA:4609] [KO:K04377]
CRLF2 (rearrangement) [HSA:64109] [KO:K05078]
PAX5 (rearrangement) [HSA:5079] [KO:K09383]
Carcinogen
*Thorium-232 and its decay products, administered intravenously as a colloidal dispersion of thorium232 dioxide
*: Although this is a risk factor for ALL in general, the strength of association with different histological tumor types is not well understood.
Drug
Cyclophosphamide [DR:D00287]
Carmustine [DR:D00254]
Methotrexate [DR:D00142]
Mercaptopurine [DR:D00161]
Clofarabine [DR:D03546]
Vincristine sulfate [DR:D02197] (Philadelphia chromosome-negative)
Teniposide [DR:D02698]
Doxorubicin hydrochloride [DR:D01275]
Daunorubicin hydrochloride [DR:D01264]
Mitoxantrone hydrochloride [DR:D02166]
Blinatumomab [DR:D09325] (Philadelphia chromosome-negative)
Inotuzumab ozogamicin [DR:D08933]
Imatinib mesylate [DR:D01441] (Philadelphia chromosome positive)
Dasatinib [DR:D06414] (Philadelphia chromosome positive)
Ponatinib hydrochloride [DR:D09951] (Philadelphia chromosome positive)
Asparaginase [DR:D02997]
Pegaspargase [DR:D05387]
Enocitabine [DR:D01633]
Comment
ICD-O-3.1: 9811/3 B lymphoblastic leukemia/lymphoma, NOS
ICD-O-3.1: 9812/3 B lymphoblastic leukemia/lymphoma with t(9;22)(q34;q11.2); BCR-ABL1
ICD-O-3.1: 9813/3 B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged
ICD-O-3.1: 9814/3 B lymphoblastic leukemia/lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)
ICD-O-3.1: 9815/3 B lymphoblastic leukemia/lymphoma with hyperdiploidy
ICD-O-3.1: 9816/3 B lymphoblastic leukemia/lymphoma with hypodiploidy (Hypodiploid ALL)
ICD-O-3.1: 9817/3 B lymphoblastic leukemia/lymphoma with t(5;14)(q31;q32); IL3-IGH
ICD-O-3.1: 9818/3 B lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)
Other DBs
ICD-11: 2A70
ICD-10: C83.5 C91.0
MeSH: D054198
Reference
  Authors
Roberts KG, Mullighan CG
  Title
Genomics in acute lymphoblastic leukaemia: insights and treatment implications.
  Journal
Nat Rev Clin Oncol 12:344-57 (2015)
DOI:10.1038/nrclinonc.2015.38
Reference
  Authors
Mullighan CG
  Title
Molecular genetics of B-precursor acute lymphoblastic leukemia.
  Journal
J Clin Invest 122:3407-15 (2012)
DOI:10.1172/JCI61203
Reference
  Authors
Teitell MA, Pandolfi PP
  Title
Molecular genetics of acute lymphoblastic leukemia.
  Journal
Annu Rev Pathol 4:175-98 (2009)
DOI:10.1146/annurev.pathol.4.110807.092227
Reference
  Authors
Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, Harris NL, Le Beau MM, Hellstrom-Lindberg E, Tefferi A, Bloomfield CD
  Title
The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes.
  Journal
Blood 114:937-51 (2009)
DOI:10.1182/blood-2009-03-209262
Reference
  Authors
Cornell RF, Palmer J
  Title
Adult acute leukemia.
  Journal
Dis Mon 58:219-38 (2012)
DOI:10.1016/j.disamonth.2012.01.011
Reference
PMID:27069254 (tumor type)
  Authors
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, Bloomfield CD, Cazzola M, Vardiman JW
  Title
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
  Journal
Blood 127:2391-405 (2016)
DOI:10.1182/blood-2016-03-643544
Reference
PMID:12556326 (carcinogen)
  Authors
Harrison JD, Muirhead CR.
  Title
Quantitative comparisons of cancer induction in humans by internally deposited radionuclides and external radiation.
  Journal
Int J Radiat Biol 79:1-13 (2003)
DOI:10.1080/0955300021000038671

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