Research Article
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Year 2021, Volume: 5 Issue: 3, 1 - 6, 20.09.2021
https://doi.org/10.30621/jbachs.868298

Abstract

Supporting Institution

Yok

Project Number

Yok

References

  • 1. Bouroncle BA, Wiseman BK, Doan CA. Leukemic Reticuloendotheliosis. Blood. 1958; 13(7): 609–30.
  • 2. Schrek R, Donnelly WJ. “Hairy” cells in blood in lymphoreticular neoplastic disease and “flagellated” cells of normal lymph nodes. Blood 1966; 27(2): 199–211.
  • 3. Morton LM, Sampson JN, Cerhan JR, Turner JJ, Vajdic CM, Wang SS, et al. Rationale and Design of the International Lymphoma Epidemiology Consortium (InterLymph) Non-Hodgkin Lymphoma Subtypes Project. JNCI Monogr 2014; 2014(48): 1–14.
  • 4. Hoffman M a. Clinical Presentations and Complications of Hairy Cell Leukemia. Hematol Oncol Clin North Am. 2006; 20(5): 1065–73.
  • 5. Kraut E. Clinical manifestations and infectious complications of hairy-cell leukaemia. Best Pract Res Clin Haematol 2003; 16(1): 33–40.
  • 6. Else M, Ruchlemer R, Osuji N, Del Giudice I, Matutes E, Woodman A, et al. Long remissions in hairy cell leukemia with purine analogs: a report of 219 patients with a median follow-up of 12.5 years. Cancer 2005; 104(11): 2442–8.
  • 7. Else M, Dearden CE, Matutes E, Garcia-Talavera J, Rohatiner AZS, Johnson S a N, et al. Long-term follow-up of 233 patients with hairy cell leukaemia, treated initially with pentostatin or cladribine, at a median of 16 years from diagnosis. Br J Haematol 2009; 145(6): 733–40.
  • 8. Tiacci E, Trifonov V, Ph D, Schiavoni G, Holmes A, Kern W, et al. Braf mutations in hairy cell leukemia. N Engl J Med. 2011; 364(24): 2305–15.
  • 9. Roskoski R. RAF protein-serine/threonine kinases: Structure and regulation. Biochem Biophys Res Commun 2010; 399(3): 313–7.
  • 10. Cantwell-Dorris E, O’Leary J, Sheils O. BRAFV600E: Implications for carcinogenesis and molecular therapy. Mol Cancer Ther 2011; 10(3): 385–94.
  • 11. Jones G, Parry-Jones N, Wilkins B, Else M, Catovsky D. Revised guidelines for the diagnosis and management of hairy cell leukaemia and hairy cell leukaemia variant. Br J Haematol. 2012; 156(2): 186–95.
  • 12. Polliack A. Hairy cell leukemia: Biology, clinical diagnosis, unusual manifestations and associated disorders. Rev Clin Exp Hematol. 2002; 6(4): 366–88.
  • 13. Dearden C, Else M, Catovsky D. Long-term results for pentostatin and cladribine treatment of hairy cell leukemia. Leuk Lymphoma 2011; 52(2): 21–4.
  • 14. Goodman GR. Extended Follow-Up of Patients With Hairy Cell Leukemia After Treatment With Cladribine. J Clin Oncol 2003; 21(5): 891–6.
  • 15. Flinn IW, Kopecky KJ, Foucar MK, Head D, Bennett JM, Hutchison R, et al. Long-term follow-up of remission duration, mortality, and second malignancies in hairy cell leukemia patients treated with pentostatin. Blood. 2000; 96(9): 2981–6.
  • 16. Maloisel F, Benboubker L, Gardembas M, Coiffier B, Divine M, Sebban C, et al. Long-term outcome with pentostatin treatment in hairy cell leukemia patients. A French retrospective study of 238 patients. Leukemia 2003; 17(1): 45–51.
  • 17. Follow-up LL, Federico BM, Zinzani PL, Frassoldati A, Vinceti M, Mode A, et al. Risk of Second Cancer in Patients With Hairy Cell. 2002; 20(3): 638–46.
  • 18. Golomb HM. Hairy cell leukemia: treatment successes in the past 25 years. J Clin Oncol 2008; 26(16): 2607–9.
  • 9. Grever MR, Zinzani PL. Long-term follow-up studies in hairy cell leukemia. Leuk Lymphoma 2009; 50(1) :23–6.
  • 20. Goodman GR, Burian C, Koziol J a, Saven A. Extended follow-up of patients with hairy cell leukemia after treatment with cladribine. J Clin Oncol. 2003; 21(5): 891–6.
  • 21. Jehn U, Bartl R, Dietzfelbinger H, Haferlach T, Heinemann V. An update: 12-year follow-up of patients with hairy cell leukemia following treatment with 2-chlorodeoxyadenosine. Leukemia 2004; 18(9): 1476–81.
  • 22. Boyd EM, Bench AJ, van ’t Veer MB, Wright P, Bloxham DM, Follows G a, et al. High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies. Br J Haematol 2011; 155(5): 609–12.
  • 23. Tiacci E, Schiavoni G, Forconi F, Santi A, Trentin L, Ambrosetti A, et al. Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF -V600E mutation. Blood. 2012; 119(1): 192–5.
  • 24. Langabeer SE, O’Brien D, Liptrot S, Flynn CM, Hayden PJ, Conneally E, et al. Correlation of the BRAF V600E mutation in hairy cell leukaemia with morphology, cytochemistry and immunophenotype. Int J Lab Hematol. 2012; 34(4): 417–21.
  • 25. Xi L, Arons E, Navarro W, Calvo KR, Stetler-Stevenson M, Raffeld M, et al. Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation. Blood. 2012; 119: 3330–2.
  • 26. Shao H, Calvo KR, Grönborg M, Tembhare PR, Kreitman RJ, Stetler-Stevenson M, et al. Distinguishing hairy cell leukemia variant from hairy cell leukemia: Development and validation of diagnostic criteria. Leuk Res. 2013; 37(4): 401–9.
  • 27. Laurini J a, Aoun P, Iqbal J, Chan W, Greiner TC. Investigation of the BRAF V600E mutation by pyrosequencing in lymphoproliferative disorders. Am J Clin Pathol [Internet]. 2012; 138(6): 877–83.
  • 28. Verma S, Greaves WO, Ravandi F, Reddy N, Bueso-Ramos CE, O’Brien S, et al. Rapid detection and quantitation of BRAF mutations in hairy cell leukemia using a sensitive pyrosequencing assay. Am J Clin Pathol 2012; 138(1): 153–6.
  • 29. Tiacci E, Schiavoni G, Martelli MP, Boveri E, Pacini R, Tabarrini A, et al. Constant activation of the RAF-MEK-ERK pathway as a diagnostic and therapeutic target in hairy cell leukemia. Haematologica 2013; 98(4): 635–9.
  • 30. Catalogue of Somatic Mutations in Cancer [Internet]. http://cancer.sanger.ac.uk/cancergenome/projects/cosmic/

B-RAF V600E AND B-RAF CODON 464-469 MUTATIONS IN HAIRY CELL LEUKEMIA PATIENTS AND THEIR RELATION WITH CLINICAL PARAMETERS

Year 2021, Volume: 5 Issue: 3, 1 - 6, 20.09.2021
https://doi.org/10.30621/jbachs.868298

Abstract

PURPOSE: Hairy cell leukemia (HCL) is a chronic lymphoproliferative disorder which counts %2-3 percent of the leukemias. B-RAF is a member of mitogen activated protein kinase pathway, associated with cell proliferation. The most common B-RAF mutation V600E has been shown in hairy cell leukemia recently. The aim of our study is to investigate B-RAF V600E and B-RAF codon 464-469 mutations in HCL patients and compare the results with clinical parameters.
METHODS: Thirteen individuals who were diagnosed and followed up with hairy cell leukemia in Dokuz Eylul University Faculty of Medicine Hematology outpatient clinic are included in our study. Demographic and clinical data are collected and B-RAF mutations are analyzed with pyrosequencing based molecular methods.
RESULTS: B-RAFV600E mutation was positive in 10 (%76,9) patients. B-RAF G464E was mutated in one patient, B-RAF G466E was positive in another and B-RAF G469E mutation has been found in a patient. Two patients had both codon 600 and codon 464-469 mutations, showing no invincible difference clinically. All the patients having lymphadenopathy had B-RAFV600E mutations.(p=1.000) Response rates were similar in the groups having B-RAFV600E mutation and/or B-RAF codon 464-469 mutations.
CONCLUSION: B-RAF is a commonly mutated gene in hairy cell leukemia with different types of muatations. Especially B-RAFV600E mutation can be used as a supportive diagnostic test, in cases with contraversial diagnosis or differential diagnosis of other peripheral B cell neoplasms. Also it can be used as a marker to select the candidate patients for target therapies, who did not respond to the conventional therapies.

Project Number

Yok

References

  • 1. Bouroncle BA, Wiseman BK, Doan CA. Leukemic Reticuloendotheliosis. Blood. 1958; 13(7): 609–30.
  • 2. Schrek R, Donnelly WJ. “Hairy” cells in blood in lymphoreticular neoplastic disease and “flagellated” cells of normal lymph nodes. Blood 1966; 27(2): 199–211.
  • 3. Morton LM, Sampson JN, Cerhan JR, Turner JJ, Vajdic CM, Wang SS, et al. Rationale and Design of the International Lymphoma Epidemiology Consortium (InterLymph) Non-Hodgkin Lymphoma Subtypes Project. JNCI Monogr 2014; 2014(48): 1–14.
  • 4. Hoffman M a. Clinical Presentations and Complications of Hairy Cell Leukemia. Hematol Oncol Clin North Am. 2006; 20(5): 1065–73.
  • 5. Kraut E. Clinical manifestations and infectious complications of hairy-cell leukaemia. Best Pract Res Clin Haematol 2003; 16(1): 33–40.
  • 6. Else M, Ruchlemer R, Osuji N, Del Giudice I, Matutes E, Woodman A, et al. Long remissions in hairy cell leukemia with purine analogs: a report of 219 patients with a median follow-up of 12.5 years. Cancer 2005; 104(11): 2442–8.
  • 7. Else M, Dearden CE, Matutes E, Garcia-Talavera J, Rohatiner AZS, Johnson S a N, et al. Long-term follow-up of 233 patients with hairy cell leukaemia, treated initially with pentostatin or cladribine, at a median of 16 years from diagnosis. Br J Haematol 2009; 145(6): 733–40.
  • 8. Tiacci E, Trifonov V, Ph D, Schiavoni G, Holmes A, Kern W, et al. Braf mutations in hairy cell leukemia. N Engl J Med. 2011; 364(24): 2305–15.
  • 9. Roskoski R. RAF protein-serine/threonine kinases: Structure and regulation. Biochem Biophys Res Commun 2010; 399(3): 313–7.
  • 10. Cantwell-Dorris E, O’Leary J, Sheils O. BRAFV600E: Implications for carcinogenesis and molecular therapy. Mol Cancer Ther 2011; 10(3): 385–94.
  • 11. Jones G, Parry-Jones N, Wilkins B, Else M, Catovsky D. Revised guidelines for the diagnosis and management of hairy cell leukaemia and hairy cell leukaemia variant. Br J Haematol. 2012; 156(2): 186–95.
  • 12. Polliack A. Hairy cell leukemia: Biology, clinical diagnosis, unusual manifestations and associated disorders. Rev Clin Exp Hematol. 2002; 6(4): 366–88.
  • 13. Dearden C, Else M, Catovsky D. Long-term results for pentostatin and cladribine treatment of hairy cell leukemia. Leuk Lymphoma 2011; 52(2): 21–4.
  • 14. Goodman GR. Extended Follow-Up of Patients With Hairy Cell Leukemia After Treatment With Cladribine. J Clin Oncol 2003; 21(5): 891–6.
  • 15. Flinn IW, Kopecky KJ, Foucar MK, Head D, Bennett JM, Hutchison R, et al. Long-term follow-up of remission duration, mortality, and second malignancies in hairy cell leukemia patients treated with pentostatin. Blood. 2000; 96(9): 2981–6.
  • 16. Maloisel F, Benboubker L, Gardembas M, Coiffier B, Divine M, Sebban C, et al. Long-term outcome with pentostatin treatment in hairy cell leukemia patients. A French retrospective study of 238 patients. Leukemia 2003; 17(1): 45–51.
  • 17. Follow-up LL, Federico BM, Zinzani PL, Frassoldati A, Vinceti M, Mode A, et al. Risk of Second Cancer in Patients With Hairy Cell. 2002; 20(3): 638–46.
  • 18. Golomb HM. Hairy cell leukemia: treatment successes in the past 25 years. J Clin Oncol 2008; 26(16): 2607–9.
  • 9. Grever MR, Zinzani PL. Long-term follow-up studies in hairy cell leukemia. Leuk Lymphoma 2009; 50(1) :23–6.
  • 20. Goodman GR, Burian C, Koziol J a, Saven A. Extended follow-up of patients with hairy cell leukemia after treatment with cladribine. J Clin Oncol. 2003; 21(5): 891–6.
  • 21. Jehn U, Bartl R, Dietzfelbinger H, Haferlach T, Heinemann V. An update: 12-year follow-up of patients with hairy cell leukemia following treatment with 2-chlorodeoxyadenosine. Leukemia 2004; 18(9): 1476–81.
  • 22. Boyd EM, Bench AJ, van ’t Veer MB, Wright P, Bloxham DM, Follows G a, et al. High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies. Br J Haematol 2011; 155(5): 609–12.
  • 23. Tiacci E, Schiavoni G, Forconi F, Santi A, Trentin L, Ambrosetti A, et al. Simple genetic diagnosis of hairy cell leukemia by sensitive detection of the BRAF -V600E mutation. Blood. 2012; 119(1): 192–5.
  • 24. Langabeer SE, O’Brien D, Liptrot S, Flynn CM, Hayden PJ, Conneally E, et al. Correlation of the BRAF V600E mutation in hairy cell leukaemia with morphology, cytochemistry and immunophenotype. Int J Lab Hematol. 2012; 34(4): 417–21.
  • 25. Xi L, Arons E, Navarro W, Calvo KR, Stetler-Stevenson M, Raffeld M, et al. Both variant and IGHV4-34-expressing hairy cell leukemia lack the BRAF V600E mutation. Blood. 2012; 119: 3330–2.
  • 26. Shao H, Calvo KR, Grönborg M, Tembhare PR, Kreitman RJ, Stetler-Stevenson M, et al. Distinguishing hairy cell leukemia variant from hairy cell leukemia: Development and validation of diagnostic criteria. Leuk Res. 2013; 37(4): 401–9.
  • 27. Laurini J a, Aoun P, Iqbal J, Chan W, Greiner TC. Investigation of the BRAF V600E mutation by pyrosequencing in lymphoproliferative disorders. Am J Clin Pathol [Internet]. 2012; 138(6): 877–83.
  • 28. Verma S, Greaves WO, Ravandi F, Reddy N, Bueso-Ramos CE, O’Brien S, et al. Rapid detection and quantitation of BRAF mutations in hairy cell leukemia using a sensitive pyrosequencing assay. Am J Clin Pathol 2012; 138(1): 153–6.
  • 29. Tiacci E, Schiavoni G, Martelli MP, Boveri E, Pacini R, Tabarrini A, et al. Constant activation of the RAF-MEK-ERK pathway as a diagnostic and therapeutic target in hairy cell leukemia. Haematologica 2013; 98(4): 635–9.
  • 30. Catalogue of Somatic Mutations in Cancer [Internet]. http://cancer.sanger.ac.uk/cancergenome/projects/cosmic/
There are 30 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Research Article
Authors

Aybüke Olgun 0000-0002-5359-0409

Yasemin Başbınar 0000-0001-9439-2217

İnci Alacacıoğlu 0000-0002-8187-7159

Şerife Solmaz This is me 0000-0001-7180-3423

Mahdi Akbarpour This is me 0000-0002-4369-3199

Tuğba Uysal Kılıç This is me 0000-0002-1321-3334

Özlem Kılıç

Sermin Özkal 0000-0002-8167-0238

Hülya Ellidokuz 0000-0001-8503-061X

Mehmet Ali Özcan

Project Number Yok
Publication Date September 20, 2021
Submission Date February 7, 2021
Published in Issue Year 2021 Volume: 5 Issue: 3

Cite

APA Olgun, A., Başbınar, Y., Alacacıoğlu, İ., Solmaz, Ş., et al. (2021). B-RAF V600E AND B-RAF CODON 464-469 MUTATIONS IN HAIRY CELL LEUKEMIA PATIENTS AND THEIR RELATION WITH CLINICAL PARAMETERS. Journal of Basic and Clinical Health Sciences, 5(3), 1-6. https://doi.org/10.30621/jbachs.868298
AMA Olgun A, Başbınar Y, Alacacıoğlu İ, Solmaz Ş, Akbarpour M, Uysal Kılıç T, Kılıç Ö, Özkal S, Ellidokuz H, Özcan MA. B-RAF V600E AND B-RAF CODON 464-469 MUTATIONS IN HAIRY CELL LEUKEMIA PATIENTS AND THEIR RELATION WITH CLINICAL PARAMETERS. JBACHS. September 2021;5(3):1-6. doi:10.30621/jbachs.868298
Chicago Olgun, Aybüke, Yasemin Başbınar, İnci Alacacıoğlu, Şerife Solmaz, Mahdi Akbarpour, Tuğba Uysal Kılıç, Özlem Kılıç, Sermin Özkal, Hülya Ellidokuz, and Mehmet Ali Özcan. “B-RAF V600E AND B-RAF CODON 464-469 MUTATIONS IN HAIRY CELL LEUKEMIA PATIENTS AND THEIR RELATION WITH CLINICAL PARAMETERS”. Journal of Basic and Clinical Health Sciences 5, no. 3 (September 2021): 1-6. https://doi.org/10.30621/jbachs.868298.
EndNote Olgun A, Başbınar Y, Alacacıoğlu İ, Solmaz Ş, Akbarpour M, Uysal Kılıç T, Kılıç Ö, Özkal S, Ellidokuz H, Özcan MA (September 1, 2021) B-RAF V600E AND B-RAF CODON 464-469 MUTATIONS IN HAIRY CELL LEUKEMIA PATIENTS AND THEIR RELATION WITH CLINICAL PARAMETERS. Journal of Basic and Clinical Health Sciences 5 3 1–6.
IEEE A. Olgun, “B-RAF V600E AND B-RAF CODON 464-469 MUTATIONS IN HAIRY CELL LEUKEMIA PATIENTS AND THEIR RELATION WITH CLINICAL PARAMETERS”, JBACHS, vol. 5, no. 3, pp. 1–6, 2021, doi: 10.30621/jbachs.868298.
ISNAD Olgun, Aybüke et al. “B-RAF V600E AND B-RAF CODON 464-469 MUTATIONS IN HAIRY CELL LEUKEMIA PATIENTS AND THEIR RELATION WITH CLINICAL PARAMETERS”. Journal of Basic and Clinical Health Sciences 5/3 (September 2021), 1-6. https://doi.org/10.30621/jbachs.868298.
JAMA Olgun A, Başbınar Y, Alacacıoğlu İ, Solmaz Ş, Akbarpour M, Uysal Kılıç T, Kılıç Ö, Özkal S, Ellidokuz H, Özcan MA. B-RAF V600E AND B-RAF CODON 464-469 MUTATIONS IN HAIRY CELL LEUKEMIA PATIENTS AND THEIR RELATION WITH CLINICAL PARAMETERS. JBACHS. 2021;5:1–6.
MLA Olgun, Aybüke et al. “B-RAF V600E AND B-RAF CODON 464-469 MUTATIONS IN HAIRY CELL LEUKEMIA PATIENTS AND THEIR RELATION WITH CLINICAL PARAMETERS”. Journal of Basic and Clinical Health Sciences, vol. 5, no. 3, 2021, pp. 1-6, doi:10.30621/jbachs.868298.
Vancouver Olgun A, Başbınar Y, Alacacıoğlu İ, Solmaz Ş, Akbarpour M, Uysal Kılıç T, Kılıç Ö, Özkal S, Ellidokuz H, Özcan MA. B-RAF V600E AND B-RAF CODON 464-469 MUTATIONS IN HAIRY CELL LEUKEMIA PATIENTS AND THEIR RELATION WITH CLINICAL PARAMETERS. JBACHS. 2021;5(3):1-6.