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{{Myelofibrosis}}
{{Myelofibrosis}}
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==Overview==
==Overview==
Other [[Diagnosis|diagnostic]] studies for [[myelofibrosis]] include [[genetic testing]], which demonstrates JAK2<sup>V617F</sup> mutation, hybrid [[imaging]], which demonstrates increased uptake of the [[Radionuclide|radionuclides]] by the [[Extramedullary hematopoiesis|extramedullary hematopoietic foci]], and [[Bone scan|bone scintigraphy]] and [[Positron emission tomography|positron emission tomography (PET)]], both of which demonstrate [[fibrosis]].


==Other Diagnostic Studies==
==Other Diagnostic Studies==
===''JAK2'' Mutation Analysis Testing===
===Genetic Testing===
*[[Reverse transcriptase polymerase chain reaction]] ([[RT-PCR]]) may be performed to observe the ''[[JAK2]]'' mutation.
*[[Allele]] specific [[polymerase chain reaction]] (AS-PCR) is used to [[amplify]] the [[exon]] 12 of [[Janus kinase 2|Janus kinase 2 (JAK2)]] [[gene]] which harbours V617F [[mutation]].<ref name="pmid21867614">{{cite journal |vauthors=Zhu JF, Liu Y, Liu P, Jia MF, Cheng J, Zhao L |title=[JAK2V617F mutation in the patients with myeloproliferative disorder and its relation with clinical characteristics] |language=Chinese |journal=Zhongguo Shi Yan Xue Ye Xue Za Zhi |volume=19 |issue=4 |pages=916–20 |date=August 2011 |pmid=21867614 |doi= |url=}}</ref><ref name="pmid25624900">{{cite journal |vauthors=Zhang SP, Li H, Lai RS |title=Detection of JAK2 V617F mutation increases the diagnosis of myeloproliferative neoplasms |journal=Oncol Lett |volume=9 |issue=2 |pages=735–738 |date=February 2015 |pmid=25624900 |pmc=4301535 |doi=10.3892/ol.2014.2801 |url=}}</ref>
*''[[JAK2]]'' mutation on Val 617 Phe locus in 50%


===Bone Scan===
===Bone Scintigraphy===
*[[Bone scan]] may give "superscan" appearance.<ref name=radiographicfeaturesofprimarymf1radiopaedia1>Radiographic features of primary myelofibrosis. Dr Henry Knipe and Dr Yuranga Weerakkody et al. Radiopaedia 2016. http://radiopaedia.org/articles/myelofibrosis. Accessed on March 10, 2016</ref>
*[[Bone scan|Bone scintigraphy]] will demonstrate increased [[tracer]] uptake.<ref name="pmid28360204">{{cite journal |vauthors=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 |title=Assessing Bone Marrow Activity in Patients with Myelofibrosis: Results of a Pilot Study of 18F-FLT PET |journal=J. Nucl. Med. |volume=58 |issue=10 |pages=1603–1608 |date=October 2017 |pmid=28360204 |doi=10.2967/jnumed.116.188508 |url=}}</ref><ref name="pmid15031814">{{cite journal |vauthors=Pour MC, Simon-Corat Y, Horne T |title=Diffuse increased uptake on bone scan: super scan |journal=Semin Nucl Med |volume=34 |issue=2 |pages=154–6 |date=April 2004 |pmid=15031814 |doi= |url=}}</ref>
 
===Positron Emission Tomography (PET)===
*[[Positron emission tomography|Positron emission tomography (PET)]] is a reliable and convenient technique to assess [[Hematopoiesis|hematopoietic]] activity in the [[bone marrow]] and can be an used as an alternate to [[Bone scan|bone scintigraphy]].<ref name="pmid28360204">{{cite journal |vauthors=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 |title=Assessing Bone Marrow Activity in Patients with Myelofibrosis: Results of a Pilot Study of 18F-FLT PET |journal=J. Nucl. Med. |volume=58 |issue=10 |pages=1603–1608 |date=October 2017 |pmid=28360204 |doi=10.2967/jnumed.116.188508 |url=}}</ref><ref name="pmid17015893">{{cite journal |vauthors=Agool A, Schot BW, Jager PL, Vellenga E |title=18F-FLT PET in hematologic disorders: a novel technique to analyze the bone marrow compartment |journal=J. Nucl. Med. |volume=47 |issue=10 |pages=1592–8 |date=October 2006 |pmid=17015893 |doi= |url=}}</ref>
 
===Hybrid Imaging===
*Hybrid [[imaging]] involves the use of two [[Radionuclide|radionuclides]], [[Technetium-99m|technetium 99m ([99m] Tc)]] and [[Indium(III) chloride|indium 111-chloride ([111] In-Cl3)]], coupled with [[Single photon emission computed tomography|single-photon emission tomography]]/[[computed tomography]] ([[Single photon emission computed tomography|SPECT]]/[[Computed tomography|CT]]).<ref name="pmid27518041">{{cite journal |vauthors=Ojeda-Uribe M, Morel O, Ungureanu C, Desterke C, Le Bousse-Kerdilès MC, Boulahdour H |title=Assessment of sites of marrow and extramedullary hematopoiesis by hybrid imaging in primary myelofibrosis patients |journal=Cancer Med |volume=5 |issue=9 |pages=2378–84 |date=September 2016 |pmid=27518041 |pmc=5055194 |doi=10.1002/cam4.835 |url=}}</ref>
*It can serve as an alternative noninvasive method for the [[Screening (medicine)|screening]] of the whole-body [[Bone marrow|marrow]] and also to assess the impact of targeted [[Therapy|therapies]].


==References==
==References==
{{reflist|2}}
{{reflist|2}}


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Latest revision as of 22:50, 29 July 2020

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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 JAK2V617F 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

Bone Scintigraphy

Positron Emission Tomography (PET)

Hybrid Imaging

References

  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.
  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.
  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.
  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.
  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.
  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.