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INGRAIN-MF
Incorporating genetics, risk and associated burden into MF management

MODULE 2: The influence of genetic factors in myelofibrosis

Having completed this module, you should now have a better appreciation of:

  • driver and non-driver mutations in MF
  • the importance of genetic information in diagnosis
  • how a patient’s molecular profile affects their prognosis
  • the potential offered by next-generation sequencing (NGS)

Retest your knowledge below.

Post-module multiple-choice questions

When your answers have been submitted, you will be able to review the correct answers and receive your final score.

Correct answer is highlighted.

Answer: Only 10% of patients with MF do not have mutations in the JAK2, CALR or MPL genes, and are thus classified as triple negative.1

CALR: calreticulin; JAK: Janus kinase; MPL: myeloproliferative leukaemia virus oncogene

Correct answer is highlighted.

Answer: The MPL gene codes for the thrombopoietin receptor. Mutations identified in MF, particularly at position W515, result in an activated form of the receptor, causing an increase in thrombocytosis.2,3

G-CSF: granulocyte-colony stimulating factor

Correct answer is highlighted.

Answer: Mutations in ASXL1 are the most common non-driver mutations, occurring in approximately 30% of patients.3-5

Correct answer is highlighted.

Answer: Triple negative patients have a lower overall survival than those harbouring a driver mutation. The longest median survival is for patients with a CALR mutation.6

Correct answer is highlighted.

Answer: Understanding a patient’s molecular profile beyond the driver mutations has implications for prognosis - inclusion in recent prognostic scoring systems means that this genetic information could increase the patient’s risk category.7,8 As such, this could also impact treatment decisions, such as the use of ruxolitinib or consideration for allogeneic stem cell transplantation.9,10

NGS: next-generation sequencing

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Adverse events should be reported. Reporting forms and information can be found at www.mhra.gov.uk/yellowcard.
Adverse events should also be reported to Novartis online through the pharmacovigilance intake (PVI) tool at www.novartis.com/report or alternatively email medinfo.uk@novartis.com or call 01276 698370

References
  1. Loscocco G G, Guglielmelli P, Vannucchi A M. Impact of mutational profile on the management of myeloproliferative neoplasms: a short review of the emerging data. Onco Targets Ther 2020;13:12367-12382
  2. Palumbo G A, Stella S et al. The role of new technologies in myeloproliferative neoplasms. Front Oncol 2019;9:321
  3. Vainchenker W, Kralovics R. Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms. Blood 2017;129(6):667-679
  4. Patel K P, Newberry K J et al. Correlation of mutation profile and response in patients with myelofibrosis treated with ruxolitinib. Blood 2015;126(6):790-797
  5. Tefferi A, Lasho T L et al. Targeted deep sequencing in primary myelofibrosis. Blood Adv 2016;1(2):105-111
  6. Rumi E, Pietra D et al. Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. Blood 2014;124(7):1062-1069
  7. Guglielmelli P, Lasho T L et al. MIPSS70: Mutation-enhanced International Prognostic Score System for transplantation-age patients with primary myelofibrosis. J Clin Oncol 2018;36(4):310-318
  8. Tefferi A, Guglielmelli P et al. MIPSS70+ Version 2.0: Mutation and karyotype-enhanced International Prognostic Scoring System for primary myelofibrosis. J Clin Oncol 2018;36(17):1769-1770
  9. National Institute for Health and Care Excellence (NICE). Technology appraisal guidance 386. Ruxolitinib for treating disease-related splenomegaly or symptoms in adults with myelofibrosis, March 2016 (last reviewed July 2019). Available at: nice.org.uk. Accessed August 2025
  10. Kroger N M, Deeg J H et al. Indication and management of allogeneic stem cell transplantation in primary myelofibrosis: a consensus process by an EBMT/ELN international working group. Leukemia 2015;29(11):2126-2133

© NICE 2016 Ruxolitinib for treating disease-related splenomegaly or symptoms in adults with myelofibrosis. Available from nice.org.uk/guidance/ta386. All rights reserved. Subject to Notice of rights.

NICE guidance is prepared for the National Health Service in England. All NICE guidance is subject to regular review and may be updated or withdrawn. NICE accepts no responsibility for the use of its content in this product/ publication.