Novel thiopurine methyltransferase variant TPMT* 28 results in a misdiagnosis of TPMT deficiency

Inflammatory Bowel Diseases

Volumn 17, Issue 6, 2011, Pages 1441-1442

  Landy, J ^a   Bhuva, N ^a   Marinaki, A ^b   Mawdsley, J ^a  

^a WEST MIDDLESEX UNIVERSITY HOSPITAL   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AZATHIOPRINE; CORTICOSTEROID; INFLIXIMAB; MERCAPTOPURINE; STEROID; THIOPURINE METHYLTRANSFERASE; TIOGUANINE;

CASE REPORT; COLON RESECTION; DIAGNOSTIC ERROR; DRUG WITHDRAWAL; GENOTYPE; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; LETTER; LOW DRUG DOSE; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; REMISSION; TREATMENT FAILURE; TREATMENT RESPONSE; ULCERATIVE COLITIS;

AMINO ACID SUBSTITUTION; AZATHIOPRINE; COLITIS, ULCERATIVE; DIAGNOSTIC ERRORS; DRUG HYPERSENSITIVITY; HUMANS; IMMUNOSUPPRESSIVE AGENTS; METHYLTRANSFERASES;

EID: 79955872323     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1002/ibd.21505     Document Type: Letter

References (5)

1. Kham SK, Soh CK, Aw DC, et al. TPMT*26 (208F→L), a novel mutation detected in a Chinese. Br J Clin Pharmacol. 2009; 68: 120-123.
2. de Beaumais TA, Fakhoury M, Pigneur B, et al. Characterization of a novel TPMT mutation associated with azathioprine-induced myelosuppression. Br J Clin Pharmacol. 2009; 68: 770-772.
3. Sandborn WJ., Rational dosing of azathioprine and 6-mercaptopurine. Gut. 2001; 48: 591-592. (Pubitemid 32378572)
4. Kaskas BA, Louis E, Hindorf U, et al. Safe treatment of thiopurine S-methyltransferase deficient Crohn's disease patients with azathioprine. Gut. 2003; 52: 140-142. (Pubitemid 36020781)
5. Winter J, Gaffney D, Shapiro D, et al. Assessment of thiopurine methyltransferase enzyme activity is superior to genotype in predicting myelosuppression following azathioprine therapy in patients with inflammatory bowel disease. Aliment Pharmacol Ther. 2007; 25: 1069-1077. (Pubitemid 46587697)