Literatur
Nebenwirkungen von 5-Fluorouracil/DPD-Mutationstest (Exon 14) Nebenwirkungen von CPT-11/Promotorpolymorphismus des UGT1A1 Mikrosatelliteninstabilität und HNPCC Therapieerfolg von Iressa und Mutationen im EGFR Kontrolle des Therapieerfolges bei CML (quantitative BCR-ABL Diagnostik) Nachweis der Polycythämia Vera (prv-1 Diagnostik) Quantifizierung von TS-, TP- und DPD-mRNA bei kolorektalem Karzinom Thymidin-Phosphorylase und Capecitabine/Xeloda Quantifizierung von DPD-mRNA in peripherem Blut
Nebenwirkungen von
5-Fluorouracil/DPD-Mutationstest (Exon 14)
van Kuilenburg AB: Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil.
Eur J Cancer. 2004 May;40(7):939-50. Review
Van Kuilenburg AB, Meinsma R, Zoetekouw L, Van Gennip AH: High prevalence of the IVS14 + 1G>A mutation
in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity.
Pharmacogenetics. 2002 Oct;12(7):555-8
Van Kuilenburg AB, Meinsma R, Zoetekouw L, Van Gennip AH: Increased risk of grade IV neutropenia after
administration of 5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the
IVS14+1g>a mutation.
Int J Cancer. 2002 Sep 20;101(3):253-8.
Raida M, Schwabe W, Hausler P, Van Kuilenburg AB, Van Gennip AH, Behnke D, Hoffken K.: Prevalence of a common
point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in
patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls.
Clin Cancer Res. 2001 Sep;7(9):2832-9.
Behnke D., Schalhorn A., Raida M.:
Vermeidung schwerster Toxizitäten unter 5-FU-Therapie durch Test auf DPD-Mutation
(Exon-14-Skipping).
InFoOnkologie 2001;4:67-68
van Kuilenburg AB, Muller EW, Haasjes J, Meinsma R, Zoetekouw L, Waterham HR, Baas F, Richel DJ, van Gennip AH.:
Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of
5 fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency.
Clin Cancer Res. 2001 May;7(5):1149-53.
van Kuilenburg AB, Haasjes J, Richel DJ, Zoetekouw L, Van Lenthe H, De Abreu RA, Maring JG, Vreken P, van Gennip AH.:
Clinical implications of dihydropyrimidine dehydrogenase (DPD) deficiency in patients with severe
5-fluorouracil-associated toxicity: identification of new mutations in the DPD gene.
Clin Cancer Res. 2000 Dec;6(12):4705-12.
Johnson MR, Hageboutros A, Wang K, High L, Smith JB, Diasio RB.: Life-threatening toxicity in a dihydropyrimidine
dehydrogenase-deficient patient after treatment with topical 5-fluorouracil.
Clin Cancer Res. 1999 Aug;5(8):2006-11.
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Nebenwirkungen von CPT-11/Promotorpolymorphismus des UGT1A1
Marsh S, McLeod HL:
Pharmacogenetics of irinotecan toxicity.
Pharmacogenomics. 2004 Oct;5(7):835-43.
Rouits E, Boisdron-Celle M, Dumont A, Guérin O, Morel A Gamelin E:
Relevance of Different UGT1A1 Polymorphisms in Irinotecan-Induced Toxicity.
Clinical Cancer Research Vol. 10: 5151-5159, August 1, 2004.
Paoluzzi L, Singh AS, Price DK, Danesi R, Mathijssen RH, Verweij J, Figg WD, Sparreboom A.:
Influence of genetic variants in UGT1A1 and UGT1A9 on the in vivo glucuronidation of SN-38.
J Clin Pharmacol. 2004 Aug;44(8):854-60.
Marcuello E, Altes A, Menoyo A, Del Rio E, Gomez-Pardo M, Baiget M.:
UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer.
Br J Cancer. 2004 Aug 16;91(4):678-82.
Innocenti F, Undevia SD, Iyer L, Chen PX, Das S, Kocherginsky M, Karrison T, Janisch L, Ramirez J,
Rudin CM, Vokes EE, Ratain MJ.:
Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan.
J Clin Oncol. 2004 Apr 15;22(8):1382-8.
Iyer L, Das S, Janisch L, Wen M, Ramirez J, Karrison T, Fleming GF, Vokes EE, Schilsky RL, Ratain MJ.:
UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity.
Pharmacogenomics J 2002;2(1):43-7
Ando Y, Ueoka H, Sugiyama T, Ichiki M, Shimokata K, Hasegawa Y.:
Polymorphisms of UDP-glucuronosyltransferase and pharmacokinetics of irinotecan.
Ther Drug Monit. 2002 Feb;24(1):111-6.
Mani S.:
UGT1A1 polymorphism predicts irinotecan toxicity: evolving proof.
AAPS PharmSci. 2001;3(3):2.
Ando Y, Saka H, Ando M, Sawa T, Muro K, Ueoka H, Yokoyama A, Saitoh S, Shimokata K, Hasegawa Y.:
Polymorphisms of UDP-glucuronosyltransferase gene and irinotecan toxicity: a pharmacogenetic analysis.
Cancer Res. 2000 Dec 15;60(24):6921-6.
Beutler E, Gelbart T, Demina A.: Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter:
a balanced polymorphism for regulation of bilirubin metabolism?
Proc Natl Acad Sci U S A. 1998 Jul 7;95(14):8170-4.
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Mikrosatelliteninstabilität und HNPCC
Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Ruschoff J, Fishel R, Lindor NM, Burgart LJ,
Hamelin R, Hamilton SR, Hiatt RA, Jass J, Lindblom A, Lynch HT, Peltomaki P, Ramsey SD, Rodriguez-Bigas MA,
Vasen HF, Hawk ET, Barrett JC, Freedman AN, Srivastava S.:
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite
instability.
J Natl Cancer Inst. 2004 Feb 18;96(4):261-8.
Schulmann K; Mangold Eh; Schmiegel W; Propping P:
Wirksamkeit der Krebsfrüherkennung beim hereditären kolorektalen Karzinom ohne Polyposis.
Deutsches Ärzteblatt 101, Ausgabe 8 vom 20.02.2004, Seite A-506 / B-421 / C-413.
Schmiegel W, Adler G, Frühmorgen P et al.: Kolorektales Karzinom:
Prävention und Früherkennung in der asymptomatischen Bevölkerung – Vorsorge bei Risikopatienten –
Endoskopische Diagnostik, Therapie und Nachsorge von Polypen und Karzinomen.
Z Gastroenterol 2000; 38: 49–75.
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Therapieerfolg von Iressa und Mutationen im EGFR
Stephens P et al:
Lung cancer: intragenic ERBB2 kinase mutations in tumours.
Nature. 2004 Sep 30;431(7008):525-6.
Pao W et al:
EGF receptor gene mutations are common in lung cancers from "never smokers" and are associated with sensitivity
of tumors to gefitinib and erlotinib.
Proc Natl Acad Sci U S A. 2004 Sep 7;101(36):13306-11.
Sordella R, et al:
Gefitinib-sensitizing EGFR mutations in lung cancer activate anti-apoptotic pathways.
Science. 2004 Aug 20;305(5687):1163-7.
Paez JG et al:
EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy.
Science. 2004 Jun 4;304(5676):1497-500.
Lynch TJ,et al:
Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer
to gefitinib.
N Engl J Med. 2004 May 20;350(21):2129-39.
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Kontrolle des Therapieerfolges bei CML (quantitative BCR-ABL Diagnostik)
Branford S, Hughes TP, Rudzki Z.: Monitoring chronic myeloid leukaemia therapy by real-time quantitative PCR in blood is a reliable alternative to bone marrow cytogenetics. Br J Haematol. 1999 Dec;107(3):587-99.
A) Glivec: Primärtherapie und Drei Log Kriterium
Branford S et al.: BCR-ABL Levels Continue To Decrease up to 42 Months
after Commencement of Standard Dose Imatinib in Patients with Newly Diagnosed
Chronic Phase CML Who Achieve a Major Molecular Response.
ASH Abstract Nr. 274 (oral presentation); erschienen in Blood, Volume
104, issue 11, November 16, 2004.
Paschka P et al.: Comparison of "Log Reduction from Median Pretherapeutic
Value" vs Ratio BCR-ABL/ABL to Express the Therapeutic Response in
CML Patients.
ASH Abstract Nr. 1013 (Poster Session 167-I); erschienen in Blood, Volume
104, issue 11, November 16, 2004.
Hochhaus A, Berger U, Hehlmann R.: Therapie der chronischen myeloischen Leukämie 2004. Dtsch Med Wochenschr. 2004 Oct 1;129(40):2122-7. Review.
Hochhaus A, La Rosee P.: Imatinib therapy in chronic myelogenous leukemia: strategies to avoid and overcome resistance. Leukemia. 2004 Aug;18(8):1321-31. Review.
Hughes TP et al.: International Randomised Study of Interferon versus
STI571 (IRIS) Study Group.
Frequency of major molecular responses to imatinib or interferon alfa
plus cytarabine in newly diagnosed chronic myeloid leukemia. N Engl J
Med. 2003 Oct 9;349(15):1423-32.
Radich et al. ASH 2003, Abstract 635.
B) Glivec: second line
Kantarjian HM et al.: Long-term survival benefit and improved complete
cytogenetic and molecular response rates with imatinib mesylate in Philadelphia
chromosome-positive chronic-phase chronic myeloid leukemia after failure
of interferon-alpha. Blood. 2004 Oct 1;104(7):1979-88.
Rosti G et al.: Molecular response to imatinib in late chronic-phase
chronic myeloid leukemia.
Blood. 2004 Mar 15;103(6):2284-90.
Paschka P. et al.: Molecular monitoring of response to imatinib (Glivec)
in CML patients pretreated with interferon alpha. Low levels of residual
disease are associated with continuous remission.
Leukemia. 2003 Sep;17(9):1687-94.
Cortes J et al: Result of high-dose imatinib mesylate in patients with Philadelphia chromosome-positive chronic myeloid leukemia after failure of interferon-alpha. Blood. 2003 Jul 1;102(1):83-6.
Sawyers CL et al: Imatinib induces hematologic and cytogenetic responses in patients with chronic myelogenous leukemia in myeloid blast crisis: results of a phase II study. Blood. 2002 May 15;99(10):3530-9.
C) Interferon: PCR Messwert und Prognose
Hochhaus A et al.: Molecular heterogeneity in complete cytogenetic
responders after interferon-alpha therapy for chronic myelogenous leukemia:
low levels of minimal residual disease are associated with continuing
remission. German CML Study Group and the UK MRC CML Study Group.
Blood. 2000 Jan 1;95(1):62-6.
D) Glivectherapie: Dosierung und Therapieerfolg
Hughes et al.: Higher-Dose Imatinib (600 mg/Day) with Selective Intensification
in Newly Diagnosed CML Patients in Chronic Phase; Cytogenetic Response
Rates at 12 Months Are Superior to IRIS.
ASH Abstract Nr. 1001 (Poster Session 155-I); erschienen in Blood, Volume
104, issue 11, November 16, 2004.
Cortes J et al.: High-Dose Imatinib Mesylate Treatment in Patients (Pts)
with Previously Untreated Early Chronic Phase (CP) Chronic Myeloid Leukemia
(CML). Session Type: Poster Session 153-I
ASH Abstract Nr. 999; erschienen in Blood, Volume 104, issue 11, November
16, 2004.
Hochhaus A, La Rosee P.: Imatinib therapy in chronic myelogenous leukemia: strategies to avoid and overcome resistance. Leukemia. 2004 Aug;18(8):1321-31. Review.
Kantarjian H et al: High-dose imatinib mesylate therapy in newly diagnosed Philadelphia chromosome-positive chronic phase chronic myeloid leukemia. Blood. 2004 Apr 15;103(8):2873-8.
Sawyers CL et al: Imatinib induces hematologic and cytogenetic responses in patients with chronic myelogenous leukemia in myeloid blast crisis: results of a phase II study. Blood. 2002 May 15;99(10):3530-9.
E) Glivectherapie: Diskontinuität / Noncompliance und Relapse
Mauro MJ et al.: Divergent clinical outcome in two CML patients who
discontinued imatinib therapy after achieving a molecular remission.
Leuk Res. 2004 May;28 Suppl 1:S71-3.
Sandoval C et al.: Imatinib mesylate noncompliance simulating chronic
myeloid leukemia resistance.
J Pediatr Hematol Oncol. 2003 Jun;25(6):507-8.
F) Glivectherapie: Nebenwirkungsmanagement
Quintas-Cardama A et al.: Granulocyte-colony-stimulating factor (filgrastim)
may overcome imatinib-induced neutropenia in patients with chronic-phase
chronic myelogenous leukemia.
Cancer. 2004 Jun 15;100(12):2592-7.
Cortes J et al: Erythropoietin is effective in improving the anemia induced
by imatinib mesylate therapy in patients with chronic myeloid leukemia
in chronic phase.
Cancer. 2004 Jun 1;100(11):2396-402.
Heim D et al.: G-CSF for imatinib-induced neutropenia.
Leukemia. 2003 Apr;17(4):805-7.
Marin D et al.: Granulocyte colony-stimulating factor reverses cytopenia
and may permit cytogenetic responses in patients with chronic myeloid
leukemia treated with imatinib mesylate.
Haematologica 2002 ; 87: 227-229.
Deininger MW et al.: Practical management of patients with chronic myeloid
leukemia receiving imatinib.
J Clin Oncol. 2003 Apr 15;21(8):1637-47. Review.
G) Stammzelltransplantation und quantitative PCR
DeAngelo DJ et al.: Extended Follow-up of Patients Treated with Imatinib
Mesylate (Gleevec) for Chronic Myelogenous Leukemia Relapse after Allogeneic
Transplantation: Durable Cytogenetic Remission and Conversion to Complete
Donor Chimerism without Graft-versus-Host Disease. Clin Cancer Res. 2004
Aug 1;10(15):5065-71.
Neumann F.et al.: Quantitative real-time reverse-transcription polymerase
chain reaction for diagnosis of BCR-ABL positive leukemias and molecular
monitoring following allogeneic stem cell transplantation.
Eur J Haematol. 2003 Jan;70(1):1-10.
Mauro MJ et al.: Divergent clinical outcome in two CML patients who discontinued
imatinib therapy after achieving a molecular remission.
Leuk Res. 2004 May;28 Suppl 1:S71-3.
Olavarria E et al.: Response to imatinib in patients who relapse after
allogeneic stem cell transplantation for chronic myeloid leukemia.
Leukemia. 2003 Sep;17(9):1707-12.
H) ALL und quantitative PCR
Lee S et al.: Risk factors for adults with Philadelphia-chromosome-positive
acute lymphoblastic leukaemia in remission treated with allogeneic bone
marrow transplantation: the potential of real-time quantitative reverse-transcription
polymerase chain reaction.
Br J Haematol. 2003 Jan;120(1):145-53.
Scheuring UJ et al.: Early minimal residual disease (MRD) analysis during
treatment of Philadelphia chromosome/Bcr-Abl-positive acute lymphoblastic
leukemia with the Abl-tyrosine kinase inhibitor imatinib (STI571).
Blood. 2003 Jan 1;101(1):85-90.
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Nachweis der Polycythämia Vera (prv-1 Diagnostik)
Cilloni D, Carturan S, Gottardi E, Messa F, Fava M, Defilippi I, Arruga F, Saglio G.: Usefulness of the quantitative assessment of PRV-1 gene expression for the diagnosis of polycythemia vera and essential thrombocythemia patients. Blood. 2004 Mar 15;103(6):2428.
Griesshammer M, Klippel S, Strunck E, Temerinac S, Mohr U, Heimpel H, Pahl HL.: PRV-1 mRNA expression discriminates two types of essential thrombocythemia. Ann Hematol. 2004 Jun;83(6):364-70.
Klippel S, Strunck E, Temerinac S, Kralovics, R., Prchal J.T., Griesshammer, M. et al.: Quantification of PRV-1 expression, a molecular marker for the diagnosis of Polycythemia vera. Blood. 2001 98: 470a.
Klippel S, Strunck E, Temerinac S, Bench AJ, Meinhardt G, Mohr U, Leichtle R, Green AR, Griesshammer M, Heimpel H, Pahl HL.: Quantification of PRV-1 mRNA distinguishes polycythemia vera from secondary erythrocytosis. Blood. 2003 Nov 15;102(10):3569-74.
Klippel S, Pahl HL.: Molecular markers for the diagnosis of Philadelphia chromosome negative myeloproliferative disorders. Pathol Biol (Paris). 2004 Jun;52(5):267-74.
Pahl HL.: Diagnostic approaches to polycythemia vera in 2004. Expert Rev Mol Diagn. 2004 Jul;4(4):495-502.
Prchal, F., Prchal, J.T., A Specific Test for Polycythemia Vera? Blood 15, 2003 Nov; 102(10): 3464
Shih LY, Lee CT: Identification of masked polycythemia vera from patients with idiopathic marked thrombocytosis by endogenous erythroid colony assay. Blood. 1994 Feb 1;83(3):744-8.
Temerinac S, Klippel S, Strunck E, Roder S, Lubbert M, Lange W, Azemar M, Meinhardt G, Schaefer HE, Pahl HL.: Cloning of PRV-1, a novel member of the uPAR receptor superfamily, which is overexpressed in polycythemia rubra vera. Blood. 2000 Apr 15;95(8):2569-76.
Fenster schließennach oben
Quantifizierung von TS-, TP- und DPD-mRNA bei kolorektalem Karzinom
Jakob C, Aust DE, Meyer W, Baretton GB, Schwabe W, Hausler P, Becker H, Liersch T.: Thymidylate synthase, thymidine phosphorylase, dihydropyrimidine dehydrogenase expression, and histological tumour regression after 5-FU-based neo-adjuvant chemoradiotherapy in rectal cancer. J Pathol. 2004 Dec;204(5):562-8.
Kornmann M, Schwabe W, Sander S, Kron M, Strater J, Polat S, Kettner E, Weiser HF, Baumann W, Schramm H, Hausler P, Ott K, Behnke D, Staib L, Beger HG, Link KH.: Thymidylate synthase and dihydropyrimidine dehydrogenase mRNA expression levels: predictors for survival in colorectal cancer patients receiving adjuvant 5-fluorouracil. Clin Cancer Res. 2003 Sep 15;9(11):4116-24.
Kornmann M, Link KH, Galuba I, Ott K, Schwabe W, Hausler P, Scholz P, Strater J, Polat S, Leibl B, Kettner E, Schlichting C, Baumann W, Schramm H, Hecker U, Ridwelski K, Vogt JH, Zerbian KU, Schutze F, Kreuser ED, Behnke D, Beger HG.: Association of time to recurrence with thymidylate synthase and dihydropyrimidine dehydrogenase mRNA expression in stage II and III colorectal cancer. J Gastrointest Surg. 2002 May-Jun;6(3):331-7.
Salonga D, Danenberg KD, Johnson M, Metzger R, Groshen S, Tsao-Wei DD, Lenz HJ, Leichman CG, Leichman L, Diasio RB, Danenberg PV.: Colorectal tumors responding to 5-fluorouracil have low gene expression levels of dihydropyrimidine dehydrogenase, thymidylate synthase, and thymidine phosphorylase. Clin Cancer Res. 2000 Apr;6(4):1322-7.
Kornmann M, Link KH, Lenz HJ, Pillasch J, Metzger R, Butzer U, Leder GH, Weindel M, Safi F, Danenberg KD, Beger HG, Danenberg PV.: Thymidylate synthase is a predictor for response and resistance in hepatic artery infusion chemotherapy. Cancer Lett. 1997 Sep 16;118(1):29-35.
Fenster schließennach oben
Thymidin-Phosphorylase und Capecitabine/Xeloda
Tsukamoto Y, Kato Y, Ura M, Horii I, Ishitsuka H, Kusuhara H, Sugiyama Y.: A physiologically based pharmacokinetic analysis of capecitabine, a triple prodrug of 5 FU, in humans: the mechanism for tumor-selective accumulation of 5-FU. Pharm Res. 2001 Aug;18(8):1190-202.
Twelves C.: Vision of the future: capecitabine. Oncologist. 2001;6 Suppl 4:35-9.
Hoff PM, Cassidy J, Schmoll HJ. The evolution of fluoropyrimidine therapy: from intravenous to oral. Oncologist. 2001;6 Suppl 4:3-11.
Morita T, Matsuzaki A, Suzuki K, Tokue A. Role of thymidine phosphorylase in biomodulation of fluoropyrimidines. Curr Pharm Biotechnol. 2001 Sep;2(3):257-67.
Fenster schließennach oben
Quantifizierung von DPD-mRNA in peripherem Blut
Johnson MR, Wang K, Smith JB, Heslin MJ, Diasio RB.: Quantitation of
dihydropyrimidine dehydrogenase expression by real-time reverse transcription
polymerase chain reaction.
Anal Biochem. 2000 Feb 15;278(2):175-84.
Raida M, Kliche KO, Schwabe W, Hausler P, Clement JH, Behnke D, Hoffken K.: Circadian variation of dihydropyrimidine dehydrogenase mRNA expression in leukocytes and serum cortisol levels in patients with advanced gastrointestinal carcinomas compared to healthy controls. J Cancer Res Clin Oncol. 2002 Feb;128(2):96-102.
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