Literature DB >> 21984221

The role of MTHFR and RFC1 polymorphisms on toxicity and outcome of adult patients with hematological malignancies treated with high-dose methotrexate followed by leucovorin rescue.

Patrizia Chiusolo1, Sabrina Giammarco, Silvia Bellesi, Elisabetta Metafuni, Nicola Piccirillo, Daniela De Ritis, Sara Marietti, Sorà Federica, Luca Laurenti, Luana Fianchi, Stefan Hohaus, Leone Giuseppe, Simona Sica.   

Abstract

PURPOSE: In the last years, the influence of different genes involved in metabolism of chemotherapeutic agents has been studied. Methotrexate (MTX) is a key compound of chemotherapeutic regimens used in the treatment of acute lymphoblastic leukemia (ALL), primary central nervous system lymphoma (PCNSL) and Burkitt's lymphomas (BL). This study aims to evaluate the role of MTHFR C677T and A1298C polymorphisms and G80A reduced folate carrier gene (RFC1) in a cohort of adult patients with lymphoproliferative malignancies submitted to high-dose MTX followed by leucovorin rescue.
METHODS: We performed the analysis of these polymorphisms on genomic DNA with RFLP-PCR.
RESULTS: Patients carrying MTHFR A1298C variant showed decreased hepatic and hematological toxicity (P = 0.03). Overall survival (OS) and progression-free survival (PFS) between homozygous wild-type and variant patients for the RFC1 G(80)A were significantly different (P = 0.035 and P = 0.02, respectively). A significant correlation between hematological toxicity and age (P = 0.003) was observed. There was no significant influence of MTHFR C677T genotype on toxicity, OS and PFS.
CONCLUSIONS: Leucovorin rescue given after high-dose MTX probably accounts for the lack of influence of C677T polymorphism. To better define a role of RFC1 polymorphism on patients outcome, it would be worthwhile to perform a study on intracellular MTX level and RFC1 substrate binding affinities in different genotypes.

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Year:  2011        PMID: 21984221     DOI: 10.1007/s00280-011-1751-4

Source DB:  PubMed          Journal:  Cancer Chemother Pharmacol        ISSN: 0344-5704            Impact factor:   3.333


  10 in total

Review 1.  Uptake carriers and oncology drug safety.

Authors:  Jason A Sprowl; Alex Sparreboom
Journal:  Drug Metab Dispos       Date:  2013-12-30       Impact factor: 3.922

Review 2.  Gene polymorphisms in the folate metabolism and their association with MTX-related adverse events in the treatment of ALL.

Authors:  Yang Chen; Zuojun Shen
Journal:  Tumour Biol       Date:  2015-05-30

3.  Polymorphisms within methotrexate pathway genes: Relationship between plasma methotrexate levels, toxicity experienced and outcome in pediatric acute lymphoblastic leukemia.

Authors:  Mohammad Ali Esmaili; Ahmad Kazemi; Mohammad Faranoush; Hakan Mellstedt; Farhad Zaker; Majid Safa; Narjes Mehrvar; Mohammad Reza Rezvany
Journal:  Iran J Basic Med Sci       Date:  2020-06       Impact factor: 2.699

4.  Polymorphisms of MTHFR Associated with Higher Relapse/Death Ratio and Delayed Weekly MTX Administration in Pediatric Lymphoid Malignancies.

Authors:  Hiroko Fukushima; Takashi Fukushima; Aiko Sakai; Ryoko Suzuki; Ryoko Nakajima-Yamaguchi; Chie Kobayashi; Atsushi Iwabuchi; Makoto Saito; Ai Yoshimi; Tomohei Nakao; Keisuke Kato; Masahiro Tsuchida; Hideto Takahashi; Kazutoshi Koike; Nobutaka Kiyokawa; Emiko Noguchi; Ryo Sumazaki
Journal:  Leuk Res Treatment       Date:  2013-12-10

Review 5.  Preventing and Managing Toxicities of High-Dose Methotrexate.

Authors:  Scott C Howard; John McCormick; Ching-Hon Pui; Randall K Buddington; R Donald Harvey
Journal:  Oncologist       Date:  2016-08-05

6.  Association of MTHFR and RFC1 gene polymorphisms with methotrexate efficacy and toxicity in Chinese Han patients with rheumatoid arthritis.

Authors:  Shengli Wang; Shuguang Zuo; Zhigang Liu; Xinying Ji; Zhenqiang Yao; Xinchun Wang
Journal:  J Int Med Res       Date:  2019-10-16       Impact factor: 1.671

7.  Influence of Methylenetetrahydrofolate Reductase C677T, A1298C, and G80A Polymorphisms on the Survival of Pediatric Patients with Acute Lymphoblastic Leukemia.

Authors:  Dayse Maria Vasconcelos de Deus; Elker Lene Santos de Lima; Rafaela Maria Seabra Silva; Edinalva Pereira Leite; Maria Tereza Cartaxo Muniz
Journal:  Leuk Res Treatment       Date:  2012-10-17

Review 8.  Primary CNS lymphoma.

Authors:  Elizabeth H Phillips; Christopher P Fox; Kate Cwynarski
Journal:  Curr Hematol Malig Rep       Date:  2014-09       Impact factor: 3.952

9.  Association of germline genetic variants in RFC, IL15 and VDR genes with minimal residual disease in pediatric B-cell precursor ALL.

Authors:  Małgorzata Dawidowska; Maria Kosmalska; Łukasz Sędek; Aleksandra Szczepankiewicz; Magdalena Twardoch; Alicja Sonsala; Bronisława Szarzyńska-Zawadzka; Katarzyna Derwich; Monika Lejman; Katarzyna Pawelec; Agnieszka Obitko-Płudowska; Katarzyna Pawińska-Wąsikowska; Kinga Kwiecińska; Andrzej Kołtan; Agnieszka Dyla; Władysław Grzeszczak; Jerzy R Kowalczyk; Tomasz Szczepański; Ewa Ziętkiewicz; Michał Witt
Journal:  Sci Rep       Date:  2016-07-18       Impact factor: 4.379

10.  More severe toxicity of genetic polymorphisms on MTHFR activity in osteosarcoma patients treated with high-dose methotrexate.

Authors:  Lu Xie; Wei Guo; Yi Yang; Tao Ji; Jie Xu
Journal:  Oncotarget       Date:  2017-12-14
  10 in total

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