PMID- 25906090
OWN - NLM
STAT- MEDLINE
DCOM- 20150626
LR  - 20210109
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 94
IP  - 16
DP  - 2015 Apr
TI  - Do genetic polymorphisms modulate response rate and toxicity of Cisplatin 
      associated with radiotherapy in laryngeal squamous cell carcinoma?: a case 
      report.
PG  - e578
LID - 10.1097/MD.0000000000000578 [doi]
LID - e578
AB  - Cisplatin (CDDP) plus radiotherapy (RT) has been used to treat advanced laryngeal 
      squamous cell carcinoma (LSCC) patients. Single nucleotide polymorphisms (SNPs) 
      may be responsible for differences in chemo/radiosensitivity and side effects in 
      those patients. We reported an advanced LSCC patient, who obtained durable 
      complete response and unexpected pronounced toxicity during CDDP and RT, possibly 
      due to SNPs in genes that modulate the effects of this therapeutic modality. CASE 
      PRESENTATION: A 30-year-old man with advanced LSCC obtained durable complete 
      response and severe alopecia and pancytopenia after standard and reduced doses of 
      CDDP and RT. Analyses of SNPs revealed that the patient presented GSTT1 deletion, 
      variant MSH3 1045ThrThr, wild GSTP1 105IleIle, and wild BAX -248GG genotypes, 
      which were previously described in association with abnormal detoxification, DNA 
      repair, and damaged cell apoptosis, respectively. Seven other advanced LSCC 
      patients with GSTT1 gene, MSH3 AlaAla or AlaThr, GSTP1 IleVal or ValVal, and BAX 
      GA or AA genotypes served as controls of the study. Only 1 control presented 
      complete response; the other 6 controls obtained partial response of short 
      duration. Four and 3 controls presented grade 1 or 2 and grade 3 anemia or 
      leukopenia during treatment, respectively. The CDDP level in urine collected 
      after CDDP infusion in the reported patient was lower than the median value 
      obtained in controls, suggesting a higher amount of intracellular CDDP in the 
      reported case.The data suggest, for the first time, that inherited abnormalities 
      in intracellular detoxification of CDDP, DNA repair of lesions induced by CDDP 
      and RT, and damaged cell apoptosis may alter treatment response and toxicity in 
      LSCC, but should be confirmed by large pharmacogenomic studies.
FAU - Lopes-Aguiar, Leisa
AU  - Lopes-Aguiar L
AD  - From the Department of Internal Medicine (LLA, CMLN, EFDC, GASN, TRPL, ECP, 
      CSPL); Department of Clinical Pathology Brazil (MBV, PM); and Department of 
      Radiology (JMCA), Faculty of Medical Sciences, University of Campinas, Campinas, 
      Sao Paulo, Brazil.
FAU - Visacri, Marilia Berlofa
AU  - Visacri MB
FAU - Nourani, Carolina Marques Lopes
AU  - Nourani CML
FAU - Costa, Ericka Francislaine Dias
AU  - Costa EFD
FAU - Nogueira, Guilherme Augusto Silva
AU  - Nogueira GAS
FAU - Lima, Tathiane Regine Penna
AU  - Lima TRP
FAU - Pincinato, Eder Carvalho
AU  - Pincinato EC
FAU - Moriel, Patricia
AU  - Moriel P
FAU - Altemani, Joao Mauricio Carrasco
AU  - Altemani JMC
FAU - Lima, Carmen Silvia Passos
AU  - Lima CSP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (BAX protein, human)
RN  - 0 (bcl-2-Associated X Protein)
RN  - EC 2.5.1.- (glutathione S-transferase T1)
RN  - EC 2.5.1.18 (GSTP1 protein, human)
RN  - EC 2.5.1.18 (Glutathione S-Transferase pi)
RN  - EC 2.5.1.18 (Glutathione Transferase)
RN  - Q20Q21Q62J (Cisplatin)
SB  - IM
MH  - Adult
MH  - Carcinoma, Squamous Cell/*genetics/*therapy
MH  - Chemoradiotherapy
MH  - Cisplatin/adverse effects/*therapeutic use
MH  - Glutathione S-Transferase pi/genetics
MH  - Glutathione Transferase/genetics
MH  - Head and Neck Neoplasms/*genetics/*therapy
MH  - Humans
MH  - Laryngeal Neoplasms/*genetics/*therapy
MH  - Male
MH  - Polymorphism, Single Nucleotide
MH  - Remission Induction
MH  - Squamous Cell Carcinoma of Head and Neck
MH  - bcl-2-Associated X Protein/genetics
PMC - PMC4602693
COIS- The authors have no conflicts of interest to disclose.
EDAT- 2015/04/24 06:00
MHDA- 2015/06/27 06:00
PMCR- 2015/04/24
CRDT- 2015/04/24 06:00
PHST- 2015/04/24 06:00 [entrez]
PHST- 2015/04/24 06:00 [pubmed]
PHST- 2015/06/27 06:00 [medline]
PHST- 2015/04/24 00:00 [pmc-release]
AID - 00005792-201504040-00001 [pii]
AID - 10.1097/MD.0000000000000578 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2015 Apr;94(16):e578. doi: 10.1097/MD.0000000000000578.