Myelofibrosis other diagnostic studies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Sabawoon Mirwais, M.B.B.S, M.D.[2]Sujit Routray, M.D. [3]

Overview

Other diagnostic studies for myelofibrosis include genetic testing, which demonstrates JAK2^V617F mutation, hybrid imaging, which demonstrates increased uptake of the radionuclides by the extramedullary hematopoietic foci, and bone scintigraphy and positron emission tomography (PET), both of which demonstrate fibrosis.

Other Diagnostic Studies

Genetic Testing

Allele specific polymerase chain reaction (AS-PCR) is used to amplify the exon 12 of Janus kinase 2 (JAK2) gene which harbours V617F mutation.^[1]^[2]

Bone Scintigraphy

Bone scintigraphy will demonstrate increased tracer uptake.^[3]^[4]

Positron Emission Tomography (PET)

Positron emission tomography (PET) is a reliable and convenient technique to assess hematopoietic activity in the bone marrow and can be an used as an alternate to bone scintigraphy.^[3]^[5]

Hybrid Imaging

Hybrid imaging involves the use of two radionuclides, technetium 99m ([99m] Tc) and indium 111-chloride ([111] In-Cl3), coupled with single-photon emission tomography/computed tomography (SPECT/CT).^[6]
It can serve as an alternative noninvasive method for the screening of the whole-body marrow and also to assess the impact of targeted therapies.

References

↑ Zhu JF, Liu Y, Liu P, Jia MF, Cheng J, Zhao L (August 2011). “[JAK2V617F mutation in the patients with myeloproliferative disorder and its relation with clinical characteristics]”. Zhongguo Shi Yan Xue Ye Xue Za Zhi (in Chinese). 19 (4): 916–20. PMID 21867614.
↑ Zhang SP, Li H, Lai RS (February 2015). “Detection of JAK2 V617F mutation increases the diagnosis of myeloproliferative neoplasms”. Oncol Lett. 9 (2): 735–738. doi:10.3892/ol.2014.2801. PMC 4301535. PMID 25624900.
↑ ^3.0 ^3.1 Vercellino L, Ouvrier MJ, Barré E, Cassinat B, de Beco V, Dosquet C, Chevret S, Meignin V, Chomienne C, Toubert ME, Merlet P, Kiladjian JJ (October 2017). “Assessing Bone Marrow Activity in Patients with Myelofibrosis: Results of a Pilot Study of 18F-FLT PET”. J. Nucl. Med. 58 (10): 1603–1608. doi:10.2967/jnumed.116.188508. PMID 28360204.
↑ Pour MC, Simon-Corat Y, Horne T (April 2004). “Diffuse increased uptake on bone scan: super scan”. Semin Nucl Med. 34 (2): 154–6. PMID 15031814.
↑ Agool A, Schot BW, Jager PL, Vellenga E (October 2006). “18F-FLT PET in hematologic disorders: a novel technique to analyze the bone marrow compartment”. J. Nucl. Med. 47 (10): 1592–8. PMID 17015893.
↑ Ojeda-Uribe M, Morel O, Ungureanu C, Desterke C, Le Bousse-Kerdilès MC, Boulahdour H (September 2016). “Assessment of sites of marrow and extramedullary hematopoiesis by hybrid imaging in primary myelofibrosis patients”. Cancer Med. 5 (9): 2378–84. doi:10.1002/cam4.835. PMC 5055194. PMID 27518041.

[pmid21867614-1] Zhu JF, Liu Y, Liu P, Jia MF, Cheng J, Zhao L (August 2011). “[JAK2V617F mutation in the patients with myeloproliferative disorder and its relation with clinical characteristics]”. Zhongguo Shi Yan Xue Ye Xue Za Zhi (in Chinese). 19 (4): 916–20. PMID 21867614.

[pmid25624900-2] Zhang SP, Li H, Lai RS (February 2015). “Detection of JAK2 V617F mutation increases the diagnosis of myeloproliferative neoplasms”. Oncol Lett. 9 (2): 735–738. doi:10.3892/ol.2014.2801. PMC 4301535. PMID 25624900.

[pmid28360204-3] 3.0 ^3.1 Vercellino L, Ouvrier MJ, Barré E, Cassinat B, de Beco V, Dosquet C, Chevret S, Meignin V, Chomienne C, Toubert ME, Merlet P, Kiladjian JJ (October 2017). “Assessing Bone Marrow Activity in Patients with Myelofibrosis: Results of a Pilot Study of 18F-FLT PET”. J. Nucl. Med. 58 (10): 1603–1608. doi:10.2967/jnumed.116.188508. PMID 28360204.

[pmid15031814-4] Pour MC, Simon-Corat Y, Horne T (April 2004). “Diffuse increased uptake on bone scan: super scan”. Semin Nucl Med. 34 (2): 154–6. PMID 15031814.

[pmid17015893-5] Agool A, Schot BW, Jager PL, Vellenga E (October 2006). “18F-FLT PET in hematologic disorders: a novel technique to analyze the bone marrow compartment”. J. Nucl. Med. 47 (10): 1592–8. PMID 17015893.

[pmid27518041-6] Ojeda-Uribe M, Morel O, Ungureanu C, Desterke C, Le Bousse-Kerdilès MC, Boulahdour H (September 2016). “Assessment of sites of marrow and extramedullary hematopoiesis by hybrid imaging in primary myelofibrosis patients”. Cancer Med. 5 (9): 2378–84. doi:10.1002/cam4.835. PMC 5055194. PMID 27518041.

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