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KEGG   DISEASE: Burkitt lymphoma
Entry
H00008                      Disease                                
Name
Burkitt lymphoma
  Supergrp
Non-Hodgkin lymphoma [DS:H02418]
Primary central nervous system lymphoma [DS:H02424]
Description
Burkitt lymphoma (BL) is a highly aggressive mature B-cell non-Hodgkin's lymphoma consisting of endemic, sporadic, and immunodeficiency-associated variants. Endemic BL (eBL) affects children and young adults in Africa and some other geographical areas and carries Epstein-Barr virus (EBV) in more than 95% of cases. In contrast, sporadic BL (sBL) among adolescents in Europe and North America are mostly EBV-negative. A third type of BL is associated with HIV-infection in adults. All of these subtypes possess chromosomal rearrangements of the c-myc oncogene, the genetic hallmark of BL that contributes to lymphomagenesis through alterations in cell cycle regulation, cellular differentiation, apoptosis, cellular adhesion, and metabolism. Many BL carry point mutation in the p53 tumor suppressor gene or other defects in the p14ARF-MDM2-p53 pathway, and inactivation of the p16INK4a gene by promoter methylation or homozygous deletion. This indicates that disruption of both the pRb and p53 tumor suppressor pathways is critical for BL development.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Mature B-cell neoplasms
    2A85  Other specified mature B-cell neoplasms or lymphoma
     H00008  Burkitt lymphoma
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06518  JAK-STAT signaling
   H00008  Burkitt lymphoma
  nt06516  TNF signaling
   H00008  Burkitt lymphoma
 Cellular process
  nt06524  Apoptosis
   H00008  Burkitt lymphoma
 Immune system
  nt06517  TLR signaling
   H00008  Burkitt lymphoma
  nt06519  RLR signaling
   H00008  Burkitt lymphoma
  nt06537  TCR/BCR signaling
   H00008  Burkitt lymphoma
Tumor markers [br08442.html]
 H00008
Pathway
hsa05169  Epstein-Barr virus infection
Network
nt06165 Epstein-Barr virus (EBV)
nt06516 TNF signaling
nt06517 TLR signaling
nt06518 JAK-STAT signaling
nt06519 RLR signaling
nt06524 Apoptosis
nt06537 TCR/BCR signaling
Gene
MYC-IgH (translocation) [HSA:4609] [KO:K04377]
p53 (mutation) [HSA:7157] [KO:K04451]
p16/INK4A (promoter methylation) [HSA:1029] [KO:K06621]
Pathogen
Human herpesvirus 4 (Epstein-Barr virus) [GN:T40079]
Human immunodeficiency virus 1 (HIV-1) [GN:T40001]
Drug
Cyclophosphamide [DR:D00287]
Pemigatinib [DR:D11417] (FGFR1 rearrangement)
Epcoritamab [DR:D12368]
Other DBs
ICD-11: 2A85.6
ICD-10: C83.7
MeSH: D002051
Reference
  Authors
Lindstrom MS, Wiman KG.
  Title
Role of genetic and epigenetic changes in Burkitt lymphoma.
  Journal
Semin Cancer Biol 12:381-7 (2002)
DOI:10.1016/S1044-579X(02)00058-5
Reference
  Authors
Kuppers R.
  Title
Mechanisms of B-cell lymphoma pathogenesis.
  Journal
Nat Rev Cancer 5:251-62 (2005)
DOI:10.1038/nrc1589
Reference
  Authors
Patel P, Moazzam N, Potti A, Mehdi SA.
  Title
Azathioprine induced hodgkin lymphoma: a case report and review of literature.
  Journal
Am J Clin Oncol 28:427-8 (2005)
DOI:10.1097/01.coc.0000168670.28659.8d
Reference
  Authors
Schottenfeld D, Beebe-Dimmer JL.
  Title
Advances in cancer epidemiology: understanding causal mechanisms and the evidence for implementing interventions.
  Journal
Annu Rev Public Health 26:37-60 (2005)
DOI:10.1146/annurev.publhealth.26.021304.144402
Reference
  Authors
Luch A.
  Title
Nature and nurture - lessons from chemical carcinogenesis.
  Journal
Nat Rev Cancer 5:113-25 (2005)
DOI:10.1038/nrc1546
Reference
  Authors
Kolman A, Chovanec M, Osterman-Golkar S.
  Title
Genotoxic effects of ethylene oxide, propylene oxide and epichlorohydrin in humans: update review (1990-2001).
  Journal
Mutat Res 512:173-94 (2002)
DOI:10.1016/S1383-5742(02)00067-4
Reference
  Authors
Abnet CC.
  Title
Carcinogenic food contaminants.
  Journal
Cancer Invest 25:189-96 (2007)
DOI:10.1080/07357900701208733
LinkDB

» Japanese version

KEGG   DISEASE: Hodgkin lymphoma
Entry
H00007                      Disease                                
Name
Hodgkin lymphoma
Description
Hodgkin's lymphoma (HL) is one of the most frequent lymphomas in the Western world and often affects young adults. HL is subdivided into classical and nodular lymphocyte-predominant forms. About 95% of cases are classical HL, and 5% are nodular lymphocyte-predominant HL (NLPHL). A characteristic feature of HL is the rareness of the tumor cells, which are called Hodgkin's and Reed/Sternberg (HRS) cells in classical HL and lymphocytic and histiocytic (L&H) cells in NLPHL. These cells represent only about 1% of the cellular infiltrate, while the vast majority of infiltrating cells are T lymphocytes, histiocytes, eosinophilic granulocytes and plasma cells. HRS cells show constitutive activity of both the classical and alternative NF-{kappa}B signalling pathways, which is probably a major pathogenetic mechanism in Hodgkin's lymphoma. The NF-{kappa}B activity in HRS cells is probably mediated by diverse mechanisms: receptor signalling through CD40, RANK, BCMA, and TACI, genomic REL amplification, destructive mutations in IKBA and IKBE. In HL pathogenesis associated with Epstein-Barr virus infection, the activation of NF-{kappa}B is induced by viral latent membrane protein 1 (LMP1).
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   2B30  Hodgkin lymphoma
    H00007  Hodgkin lymphoma
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06518  JAK-STAT signaling
   H00007  Hodgkin lymphoma
  nt06516  TNF signaling
   H00007  Hodgkin lymphoma
 Cellular process
  nt06524  Apoptosis
   H00007  Hodgkin lymphoma
 Immune system
  nt06517  TLR signaling
   H00007  Hodgkin lymphoma
  nt06519  RLR signaling
   H00007  Hodgkin lymphoma
  nt06537  TCR/BCR signaling
   H00007  Hodgkin lymphoma
Pathway
hsa05169  Epstein-Barr virus infection
Network
nt06516 TNF signaling
nt06517 TLR signaling
nt06518 JAK-STAT signaling
nt06519 RLR signaling
nt06524 Apoptosis
nt06537 TCR/BCR signaling
Gene
NFKBIA [HSA:4792] [KO:K04734]
NFKBIE [HSA:4794] [KO:K05872]
REL (amplification) [HSA:5966] [KO:K09254]
FAS [HSA:355] [KO:K04390]
KLHDC8B [HSA:200942]
Pathogen
Human herpesvirus 4 (Epstein-Barr virus) [GN:T40079]
Drug
Cyclophosphamide [DR:D00287]
Chlorambucil [DR:D00266]
Carmustine [DR:D00254]
Lomustine [DR:D00363]
Dacarbazine [DR:D00288]
Vinblastine sulfate [DR:D01068]
Vincristine sulfate [DR:D02197]
Doxorubicin hydrochloride [DR:D01275]
Bleomycin sulfate [DR:D02177]
Pemigatinib [DR:D11417] (FGFR1 rearrangement)
Nivolumab [DR:D10316]
Pembrolizumab [DR:D10574]
Brentuximab vedotin [DR:D09587]
Procarbazine hydrochloride [DR:D00478]
Other DBs
ICD-11: 2B30
ICD-10: C81
MeSH: D006689
OMIM: 236000
Reference
PMID:15618006 (NFKBIA, NFKBIE, REL, FAS)
  Authors
Kuppers R, Hansmann ML.
  Title
The Hodgkin and Reed/Sternberg cell.
  Journal
Int J Biochem Cell Biol 37:511-7 (2005)
DOI:10.1016/j.biocel.2003.10.025
Reference
PMID:15803153 (NFKBIA, NFKBIE, REL, FAS)
  Authors
Kuppers R.
  Title
Mechanisms of B-cell lymphoma pathogenesis.
  Journal
Nat Rev Cancer 5:251-62 (2005)
DOI:10.1038/nrc1589
Reference
PMID:19706467 (KLHDC8B)
  Authors
Salipante SJ, Mealiffe ME, Wechsler J, Krem MM, Liu Y, Namkoong S, Bhagat G, Kirchhoff T, Offit K, Lynch H, Wiernik PH, Roshal M, McMaster ML, Tucker M, Fromm JR, Goldin LR, Horwitz MS
  Title
Mutations in a gene encoding a midbody kelch protein in familial and sporadic classical Hodgkin lymphoma lead to binucleated cells.
  Journal
Proc Natl Acad Sci U S A 106:14920-5 (2009)
DOI:10.1073/pnas.0904231106
LinkDB

» Japanese version

KEGG   DISEASE: Nasopharyngeal cancer
Entry
H00054                      Disease                                
Name
Nasopharyngeal cancer
Description
Nasopharyngeal carcinoma (NPC) is a rare disease in most parts of the world, with an age-standardised annual incidence of less than 1 per 100000. However, in Southern China, parts of Southeast Asia and the Mediterranean basin, NPC is an endemic disease with an incidence of 10-30 per 100000. Genome-wide studies have unravelled multiple chromosomal abnormalities with involvement of specific oncogenes and tumor suppressor genes. Alterations of genes such as Ras association domain family 1A (RASSF1A), p16/INK4A, p14/ARF suggest that multiple cellular pathways were dysregulated in the NPC cells. Studies on the precancerous lesions revealed early genetic changes and a critical role of Epstein- Barr virus (EBV) latent infection in the development of this cancer.
Category
Cancer
Brite
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except primary neoplasms of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant neoplasms of lip, oral cavity or pharynx
     2B6B  Malignant neoplasms of nasopharynx
      H00054  Nasopharyngeal cancer
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06518  JAK-STAT signaling
   H00054  Nasopharyngeal cancer
  nt06516  TNF signaling
   H00054  Nasopharyngeal cancer
 Cellular process
  nt06524  Apoptosis
   H00054  Nasopharyngeal cancer
 Immune system
  nt06517  TLR signaling
   H00054  Nasopharyngeal cancer
  nt06519  RLR signaling
   H00054  Nasopharyngeal cancer
  nt06537  TCR/BCR signaling
   H00054  Nasopharyngeal cancer
Pathway
hsa05169  Epstein-Barr virus infection
Network
nt06516 TNF signaling
nt06517 TLR signaling
nt06518 JAK-STAT signaling
nt06519 RLR signaling
nt06524 Apoptosis
nt06537 TCR/BCR signaling
Gene
(NPCA3) MST1R [HSA:4486] [KO:K05100]
RASSF1 (promoter hypermethylation) [HSA:11186] [KO:K09850]
CDKN2A (promoter hypermethylation) [HSA:1029] [KO:K06621]
BCL2 (overexpression) [HSA:596] [KO:K02161]
EDNRB (promoter hypermethylation) [HSA:1910] [KO:K04198]
CADM1 (promoter hypermethylation) [HSA:23705] [KO:K06781]
CDH1 (decreased expression) [HSA:999] [KO:K05689]
Pathogen
Human herpesvirus 4 (Epstein-Barr virus) [GN:T40079]
Drug
Toripalimab [DR:D12202]
Other DBs
ICD-11: 2B6B
ICD-10: C11
MeSH: D009303
OMIM: 617075
Reference
PMID:26951679 (NPCA3)
  Authors
Dai W, Zheng H, Cheung AK, Tang CS, Ko JM, Wong BW, Leong MM, Sham PC, Cheung F, Kwong DL, Ngan RK, Ng WT, Yau CC, Pan J, Peng X, Tung S, Zhang Z, Ji M, Chiang AK, Lee AW, Lee VH, Lam KO, Au KH, Cheng HC, Yiu HH, Lung ML
  Title
Whole-exome sequencing identifies MST1R as a genetic susceptibility gene in nasopharyngeal carcinoma.
  Journal
Proc Natl Acad Sci U S A 113:3317-22 (2016)
DOI:10.1073/pnas.1523436113
Reference
PMID:12450731 (GENE)
  Authors
Lo KW, Huang DP.
  Title
Genetic and epigenetic changes in nasopharyngeal carcinoma.
  Journal
Semin Cancer Biol 12:451-62 (2002)
DOI:10.1016/S1044579X02000883
Reference
  Authors
Chan AT
  Title
Head and neck cancer: treatment of nasopharyngeal cancer.
  Journal
Ann Oncol 16 Suppl 2:ii265-8 (2005)
DOI:10.1093/annonc/mdi732
Reference
  Authors
Young LS, Rickinson AB.
  Title
Epstein-Barr virus: 40 years on.
  Journal
Nat Rev Cancer 4:757-68 (2004)
DOI:10.1038/nrc1452
LinkDB

» Japanese version

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