Workup of MF
Before fully evaluating a patient for suspected myelofibrosis (MF), a general anemia workup is required.Mughal TI et al. Int J Gen Med. 2014;7:89-101. Chaparro CM et al. Ann N Y Acad Sci. 2019;1450(1):15-31.
- A complete blood count (CBC) with indices and a blood smear are needed to identify the presence of anemiaMughal TI et al. Int J Gen Med. 2014;7:89-101. Chaparro CM et al. Ann N Y Acad Sci. 2019;1450(1):15-31.
- Once anemia is confirmed, additional testing is needed to ascertain a cause and potential further diagnosisBose P. Curr Hematol Malig Rep. 2024;19(3):111-119. Thapa B et al. Myeloproliferative neoplasms. In: StatPearls [Internet]. StatPearls Publishing; 2026. Updated August 8, 2023. Accessed May 6, 2026. https://www.ncbi.nlm.nih.gov/books/NBK531464/
Patients with MF may present with an array of non-specific symptoms requiring a thorough workup.Mughal TI et al. Int J Gen Med. 2014;7:89-101.
- Standard diagnosis may involve a composite evaluation of symptoms, laboratory tests, hematologic and morphologic features, and cytogenic and molecular analysesBose P. Curr Hematol Malig Rep. 2024;19(3):111-119. Thapa B et al. Myeloproliferative neoplasms. In: StatPearls [Internet]. StatPearls Publishing; 2026. Updated August 8, 2023. Accessed May 6, 2026. https://www.ncbi.nlm.nih.gov/books/NBK531464/
- Despite clearly defined diagnostic criteria, it may be difficult to distinguish MF from other myeloproliferative disorders (MPNs)Shao R et al. Cancers (Basel). 2025;18(1):50. Garmezy B et al. Blood Rev. 2021;45:100691.
Up to ~21% of patients
with MF are asymptomatic at the time of diagnosis, and suspicion arises from unexplained anemia and splenomegalyMughal TI et al. Int J Gen Med. 2014;7:89-101.
Unmet needs in MF workup and diagnosis
Several factors contribute to the lack of recognition of MF as a malignancy, and to underdiagnosis.
Incidental findingMughal TI et al. Int J Gen Med. 2014;7:89-101.
Patients with MF may be asymptomatic at diagnosis, and cytopenias and/or splenomegaly are detected incidentally on routine labs and physical examination.
Overlooked as part of agingTarburn EL et al. BJGP Open. 2025;9(1):BJGPO.2024.0068.
Patients with MPNs may postpone medical consultations, attributing health-related changes as a normal consequence of aging.
Non-specific symptomatologyShao R et al. Cancers (Basel). 2025;18(1):50. Geyer H et al. Curr Hematol Malig Rep. 2017;12(5):381-388.
Common presenting symptoms are non-specific and may resemble those of other MPNs and non-malignant conditions.
Requires specialized testsShao R et al. Cancers (Basel). 2025;18(1):50. Garmezy B et al. Blood Rev. 2021;45:100691. Yi CA et al. Leuk Res. 2014;38(1):91-94.
Variation in how specialized tests, such as bone marrow biopsy, cytogenetic analysis, and molecular testing, are performed and interpreted across centers and clinicians may lead to inconclusive results.
Criteria, algorithm, and tests for diagnosing MF
To learn more, view the tabs below. Each tab contains helpful information.
Minimal prerequisites to establish overt, fibrotic PMF diagnosisThiele J et al. Blood Cancer J. 2025;15(1):31.
Minimal prerequisites to establish secondary MF diagnosisShao R et al. Cancers (Basel). 2025;18(1):50. Tefferi A. Am J Hematol. 2023;98(5):801-821.
CML, chronic myeloid leukemia; ET, essential thrombocythemia; LDH, lactate dehydrogenase; MDS, myelodysplastic syndrome; PMF, primary myelofibrosis; PV, polycythemia vera; ULN, upper limit of normal.
Spectrum of select MPNsThapa B et al. Myeloproliferative neoplasms. In: StatPearls [Internet]. StatPearls Publishing; 2026. Updated August 8, 2023. Accessed May 6, 2026. https://www.ncbi.nlm.nih.gov/books/NBK531464/ Shao R et al. Cancers (Basel). 2025;18(1):50. Tefferi A. Am J Hematol. 2023;98(5):801-821. Ng ZY et al. Int J Lab Hematol. 2023;45(suppl 2):59-70. Masarova L et al. Leuk Res. 2017;59:110-116.
ET, essential thrombocythemia; PV, polycythemia vera; MF, myelofibrosis; PMF, primary myelofibrosis.
Tests to diagnose MFMughal TI et al. Int J Gen Med. 2014;7:89-101. Bose P. Curr Hematol Malig Rep. 2024;19(3):111-119. Thapa B et al. Myeloproliferative neoplasms. In: StatPearls [Internet]. StatPearls Publishing; 2026. Updated August 8, 2023. Accessed May 6, 2026. https://www.ncbi.nlm.nih.gov/books/NBK531464/ Shao R et al. Cancers (Basel). 2025;18(1):50. Tefferi A. Am J Hematol. 2023;98(5):801-821. Ng ZY et al. Int J Lab Hematol. 2023;45(suppl 2):59-70. Geyer JT et al. Int J Lab Hematol. 2016;38 Suppl 1:12-9.
CML, chronic myeloid leukemia; FISH, fluorescence in situ hybridization; LDH, lactate dehydrogenase; NGS, next-generation sequencing; RBC, red blood cell; RT-PCR, real-time polymerase chain reaction; WBC, white blood cell.
Workup for diagnosing MFMughal TI et al. Int J Gen Med. 2014;7:89-101. Chaparro CM et al. Ann N Y Acad Sci. 2019;1450(1):15-31. Bose P. Curr Hematol Malig Rep. 2024;19(3):111-119. Thapa B et al. Myeloproliferative neoplasms. In: StatPearls [Internet]. StatPearls Publishing; 2026. Updated August 8, 2023. Accessed May 6, 2026. https://www.ncbi.nlm.nih.gov/books/NBK531464/ Thiele J et al. Blood Cancer J. 2025;15(1):31. Geyer JT et al. Int J Lab Hematol. 2016;38 Suppl 1:12-9.
ET, essential thrombocythemia; FISH, fluorescence in situ hybridization; MF, myelofibrosis; MPN, myeloproliferative neoplasm; PMF, primary MF; PV, polycythemia vera; RT-PCR, real-time polymerase chain reaction.
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