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Cellular hypersensitivity to mitomycin C

MedGen UID:
1705482
•Concept ID:
C5139183
•
Cell or Molecular Dysfunction
HPO: HP:0032188

Definition

An increased cellular sensitivity to the DNA cross-linking agent, mitomycin C (MMC). In the presence of increased sensitivity, MMC causes increased cell death, chromosome breakage, and accumulation in the G2 phase of the cell cycle. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCellular hypersensitivity to mitomycin C

Professional guidelines

PubMed

Chromosomal breakage tests in the differential diagnosis of Fanconi anemia and aplastic anemia.
Farkas G, Székely G, Goda V, Kállay KM, Kocsis ZS, Szakszon K, Benyó G, Erdélyi D, Liptai Z, Csordás K, Kertész G, Szegedi I, Kriván G, Takácsi-Nagy Z, Polgár C, Jurányi Z
Eur J Haematol 2023 Aug;111(2):254-262. Epub 2023 May 16 doi: 10.1111/ejh.13990. PMID: 37194391
Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.
Wu K, Hinson SR, Ohashi A, Farrugia D, Wendt P, Tavtigian SV, Deffenbaugh A, Goldgar D, Couch FJ
Cancer Res 2005 Jan 15;65(2):417-26. PMID: 15695382
Molecular approaches to the treatment of Fanconi anemia: recent advances.
Otsuki T, Liu JM
Keio J Med 1998 Mar;47(1):42-4. doi: 10.2302/kjm.47.42. PMID: 9560531

Recent clinical studies

Etiology

Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant.
Mishra AP, Hartford S, Chittela RK, Sahu S, Kharat SS, Alvaro-Aranda L, Contreras-Perez A, Sullivan T, Martin BK, Albaugh M, Southon E, Burkett S, Karim B, Carreira A, Tessarollo L, Sharan SK
Cell Death Dis 2023 Nov 18;14(11):753. doi: 10.1038/s41419-023-06289-8. PMID: 37980415Free PMC Article
A C57BL/6J Fancg-KO Mouse Model Generated by CRISPR/Cas9 Partially Captures the Human Phenotype.
Shah R, van den Berk PCM, Pritchard CEJ, Song JY, Kreft M, Pilzecker B, Jacobs H
Int J Mol Sci 2023 Jul 5;24(13) doi: 10.3390/ijms241311129. PMID: 37446306Free PMC Article
Fanconi anemia and ubiquitination.
Zhang Y, Zhou X, Huang P
J Genet Genomics 2007 Jul;34(7):573-80. doi: 10.1016/S1673-8527(07)60065-4. PMID: 17643942
Molecular pathogenesis of Fanconi anemia: recent progress.
Taniguchi T, D'Andrea AD
Blood 2006 Jun 1;107(11):4223-33. Epub 2006 Feb 21 doi: 10.1182/blood-2005-10-4240. PMID: 16493006
Hypersensitivity reactions.
Weiss RB
Semin Oncol 1992 Oct;19(5):458-77. PMID: 1384149

Diagnosis

Clinical measurement of cellular DNA damage hypersensitivity in patients with DNA repair defects.
Hammarsten O, Lyytikäinen A, Thunström S, Ek T, Fasth A, Ekwall O, Cajander S, Borgström EW, Smith CIE, Johansson P
Orphanet J Rare Dis 2022 Feb 14;17(1):50. doi: 10.1186/s13023-022-02199-8. PMID: 35164800Free PMC Article
Use of the cell division assay to diagnose Fanconi anemia patients' hypersensitivity to mitomycin C.
Hammarsten O, Muslimovic A, Thunström S, Ek T, Johansson P
Cytometry B Clin Cytom 2021 May;100(3):370-376. Epub 2020 Aug 28 doi: 10.1002/cyto.b.21950. PMID: 32857894Free PMC Article
Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei.
Francies FZ, Wainwright R, Poole J, De Leeneer K, Coene I, Wieme G, Poirel HA, Brichard B, Vermeulen S, Vral A, Slabbert J, Claes K, Baeyens A
DNA Repair (Amst) 2018 Jan;61:17-24. Epub 2017 Nov 8 doi: 10.1016/j.dnarep.2017.11.001. PMID: 29154021
Symmetrical drug-related intertriginous and flexural exanthema.
Tan SC, Tan JW
Curr Opin Allergy Clin Immunol 2011 Aug;11(4):313-8. doi: 10.1097/ACI.0b013e3283489d5f. PMID: 21659857
Molecular pathogenesis of Fanconi anemia: recent progress.
Taniguchi T, D'Andrea AD
Blood 2006 Jun 1;107(11):4223-33. Epub 2006 Feb 21 doi: 10.1182/blood-2005-10-4240. PMID: 16493006

Therapy

DNA mismatch repair deficiency, resistance to cancer chemotherapy and the development of hypersensitive agents.
Pors K, Patterson LH
Curr Top Med Chem 2005;5(12):1133-49. doi: 10.2174/156802605774370883. PMID: 16248788
Molecular approaches to the treatment of Fanconi anemia: recent advances.
Otsuki T, Liu JM
Keio J Med 1998 Mar;47(1):42-4. doi: 10.2302/kjm.47.42. PMID: 9560531
Hypersensitivity to mitomycin C-induced sister chromatid exchange as a biomarker of past exposure to arsenic.
Liou SH, Gu TL, Chen CJ
Cancer Epidemiol Biomarkers Prev 1996 Feb;5(2):103-7. PMID: 8850270
Hypersensitivity reactions.
Weiss RB
Semin Oncol 1992 Oct;19(5):458-77. PMID: 1384149
Dermatitis due to intravesical mitomycin C: a delayed-type hypersensitivity reaction?
Colver GB, Inglis JA, McVittie E, Spencer MJ, Tolley DA, Hunter JA
Br J Dermatol 1990 Feb;122(2):217-24. doi: 10.1111/j.1365-2133.1990.tb08268.x. PMID: 2138492

Prognosis

Drug Sensitivity Prediction Models Reveal a Link between DNA Repair Defects and Poor Prognosis in HNSCC.
Essers PBM, van der Heijden M, Verhagen CVM, Ploeg EM, de Roest RH, Leemans CR, Brakenhoff RH, van den Brekel MWM, Bartelink H, Verheij M, Vens C
Cancer Res 2019 Nov 1;79(21):5597-5611. Epub 2019 Sep 12 doi: 10.1158/0008-5472.CAN-18-3388. PMID: 31515237
Loss of the p12 subunit of DNA polymerase delta leads to a defect in HR and sensitization to PARP inhibitors.
Zhang S, Chao HH, Wang X, Zhang Z, Lee EYC, Lee MYWT
DNA Repair (Amst) 2019 Jan;73:64-70. Epub 2018 Nov 13 doi: 10.1016/j.dnarep.2018.11.003. PMID: 30470508Free PMC Article
Cytokine overproduction and crosslinker hypersensitivity are unlinked in Fanconi anemia macrophages.
Garbati MR, Hays LE, Rathbun RK, Jillette N, Chin K, Al-Dhalimy M, Agarwal A, Newell AE, Olson SB, Bagby GC Jr
J Leukoc Biol 2016 Mar;99(3):455-65. Epub 2015 Oct 2 doi: 10.1189/jlb.3A0515-201R. PMID: 26432900Free PMC Article
Fanconi anemia pathway heterogeneity revealed by cisplatin and oxaliplatin treatments.
Kachnic LA, Li L, Fournier L, Willers H
Cancer Lett 2010 Jun 1;292(1):73-9. Epub 2010 Jan 19 doi: 10.1016/j.canlet.2009.11.009. PMID: 20034732
Molecular pathogenesis of Fanconi anemia: recent progress.
Taniguchi T, D'Andrea AD
Blood 2006 Jun 1;107(11):4223-33. Epub 2006 Feb 21 doi: 10.1182/blood-2005-10-4240. PMID: 16493006

Clinical prediction guides

Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant.
Mishra AP, Hartford S, Chittela RK, Sahu S, Kharat SS, Alvaro-Aranda L, Contreras-Perez A, Sullivan T, Martin BK, Albaugh M, Southon E, Burkett S, Karim B, Carreira A, Tessarollo L, Sharan SK
Cell Death Dis 2023 Nov 18;14(11):753. doi: 10.1038/s41419-023-06289-8. PMID: 37980415Free PMC Article
Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei.
Francies FZ, Wainwright R, Poole J, De Leeneer K, Coene I, Wieme G, Poirel HA, Brichard B, Vermeulen S, Vral A, Slabbert J, Claes K, Baeyens A
DNA Repair (Amst) 2018 Jan;61:17-24. Epub 2017 Nov 8 doi: 10.1016/j.dnarep.2017.11.001. PMID: 29154021
Cytokine overproduction and crosslinker hypersensitivity are unlinked in Fanconi anemia macrophages.
Garbati MR, Hays LE, Rathbun RK, Jillette N, Chin K, Al-Dhalimy M, Agarwal A, Newell AE, Olson SB, Bagby GC Jr
J Leukoc Biol 2016 Mar;99(3):455-65. Epub 2015 Oct 2 doi: 10.1189/jlb.3A0515-201R. PMID: 26432900Free PMC Article
Molecular pathogenesis of Fanconi anemia: recent progress.
Taniguchi T, D'Andrea AD
Blood 2006 Jun 1;107(11):4223-33. Epub 2006 Feb 21 doi: 10.1182/blood-2005-10-4240. PMID: 16493006
DNA repair in Cockayne syndrome.
Hoar DI, Waghorne C
Am J Hum Genet 1978 Nov;30(6):590-601. PMID: 747187Free PMC Article

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