Compendium of Cancer Genome Aberrations

HAEM5:Myeloid/lymphoid neoplasm with FGFR1 rearrangement: Difference between revisions

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{{DISPLAYTITLE:Myeloid/lymphoid neoplasm with FGFR1 rearrangement}}
{{DISPLAYTITLE:Myeloid/lymphoid neoplasm with FGFR1 rearrangement}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


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{{Under Construction}}


<blockquote class='blockedit'>{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement]].
<blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Myeloid/Lymphoid Neoplasms with FGFR1 Rearrangement]].
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==Definition / Description of Disease==
Myeloid/lymphoid neoplasms with ''FGFR1'' rearrangement are a heterogenous group of aggressive neoplasms with translocations involving the fibroblast growth factor receptor 1(''FGFR1)'' tyrosine kinase gene on chromosome 8p11-12<ref name=":2">{{Cite journal|last=Jackson|first=Courtney C.|last2=Medeiros|first2=L. Jeffrey|last3=Miranda|first3=Roberto N.|date=2010|title=8p11 myeloproliferative syndrome: a review|url=http://www.sciencedirect.com/science/article/pii/S0046817709004067|journal=Human Pathology|volume=41|issue=4|pages=461–476|doi=10.1016/j.humpath.2009.11.003|issn=0046-8177}}</ref>.  The neoplastic cells derive from a pluripotent haematopoietic stem cell and may be immature or mature<ref name=":0">Bain BJ, et al., (2017). Myeloid/lymphoid neoplasms with FGFR1 rearrangement in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p77-78.</ref>. Cases can present as a myeloproliferative neoplasm or as acute myeloid leukaemia, T- or B-lymphoblastic leukaemia/lymphoma or mixed-phenotype acute leukaemia. T-cell lymphoblastic lymphoma/leukemia is common, frequently with eosinophilia, and subsequently rapidly transforms into acute myeloid leukaemia. 
Coexistence of atypical chronic myeloid leukaemia, ''BCR-ABL1''-negative, with t(8;19)(p11.2;q13.1) and ''KIT'' D816V-positive systemic mastocytosis with an associated haematological neoplasm has been reported <ref name=":6">{{Cite journal|last=Duckworth|first=Christina B|last2=Zhang|first2=Linsheng|last3=Li|first3=Shiyong|date=2014|title=Systemic mastocytosis with associated myeloproliferative neoplasm with t(8;19)(p12;q13.1) and abnormality of FGFR1: report of a unique case|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925931/|journal=International Journal of Clinical and Experimental Pathology|volume=7|issue=2|pages=801–807|issn=1936-2625|pmc=3925931|pmid=24551307}}</ref>.
==Synonyms / Terminology==
8p11 myeloproliferative syndrome (EMS)
8p11 stem cell syndrome
8p11 stem cell leukaemia/lymphoma syndrome
Haematopoietic stem cell neoplasm with FGFR1 abnormalities
Myeloid and lymphoid neoplasms with FGFR1 abnormalities <ref name=":0" />
==Epidemiology / Prevalence==
The median age at disease onset is 32 years, although it can occur within a wide age range of 3-84 years <ref name=":1">{{Cite journal|last=Macdonald|first=Donald|last2=Reiter|first2=Andreas|last3=Cross|first3=Nicholas C.P.|date=2002|title=The 8p11 Myeloproliferative Syndrome: A Distinct Clinical Entity Caused by Constitutive Activation of FGFR1|url=https://www.karger.com/Article/FullText/46639|journal=Acta Haematologica|language=en|volume=107|issue=2|pages=101–107|doi=10.1159/000046639|issn=0001-5792}}</ref>. There is a moderate predominance of male with male-to-female ratio of 1.5:1, unlike in myeloid/lymphoid neoplasms with ''[http://www.ccga.io/index.php/Myeloid/Lymphoid_Neoplasms_with_PDGFRA_Rearrangement#cite_ref-:0_1-4 PDGFRA]'' or ''PDGFRB'' rearrangement <ref name=":0" />.
==Clinical Features==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable"
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
<span class="blue-text">EXAMPLE:</span> Fatigue
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
|-
|'''Laboratory Findings'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
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Systemic symptoms are common, including fatigue, fever, weight loss and night sweats. Some patients can be asymptomatic. Patients often present with peripheral blood eosinophilia without basophilia <ref name=":2" />.  Cases with lymphoma features present as lymph nodes involvement and mediastinal mass; cases with myeloproliferative features present as splenomegaly and hypermetabolism. Cases can also present as acute myeloid leukaemia or myeloid sarcoma <ref name=":1" /> <ref>{{Cite journal|last=Abruzzo|first=Lynne V.|last2=Jaffe|first2=Elaine S.|last3=Cotelingam|first3=James D.|last4=Whang-Peng|first4=Jacqueline|last5=Duca|first5=Vincent Del|last6=Medeiros|first6=L. Jeffrey|date=1992|title=T-Cell Lymphoblastic Lymphoma With Eosinophilia Associated With Subsequent Myeloid Malignancy:|url=http://journals.lww.com/00000478-199203000-00003|journal=The American Journal of Surgical Pathology|language=en|volume=16|issue=3|pages=236–245|doi=10.1097/00000478-199203000-00003|issn=0147-5185}}</ref> <ref>{{Cite journal|last=Vega|first=Francisco|last2=Medeiros|first2=L. Jeffrey|last3=Bueso-Ramos|first3=Carlos E.|last4=Arboleda|first4=Patricia|last5=Miranda|first5=Roberto N.|date=2015|title=Hematolymphoid Neoplasms Associated With Rearrangements of PDGFRA, PDGFRB, and FGFR1|url=https://academic.oup.com/ajcp/article/144/3/377/1760716|journal=American Journal of Clinical Pathology|language=en|volume=144|issue=3|pages=377–392|doi=10.1309/AJCPMORR5Z2IKCEM|issn=1943-7722}}</ref>. Extranodal sites of disease include tonsil, lung, and breast in small subsets of patients <ref name=":2" />. 
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==Sites of Involvement==
Bone marrow, peripheral blood, lymph nodes, liver and spleen are primarily involved. Lymphoblasts or myeloid cells infiltration results in lymphadenopathy <ref name=":0" />.
==Morphologic Features==
Peripheral blood: Most cases have leukocytosis with increased neutrophils, bands, metamyelocytes, and myelocytes. Circulating blasts and eosinophilia are common. Monocytosis can be found. Hemoglobin levels have ranged from 6.3 to 21 g/dL and platelet counts have ranged from 8 to 546 × 10<sup>9</sup>/L<ref name=":2" />.
Bone marrow biopsy: often hypercellularity due to increased granulocytic precursors and eosinophilia. Hypocellular cases also exist. Many cases were interpreted as myeloid hyperplasia or myeloproliferative neoplasm, including chronic myelogenous leukemia, atypical chronic myeloid leukemia, or chronic myelomonocytic leukemia. Primary diagnoses also include myelodysplastic syndrome, myelodysplastic syndrome/myeloproliferative neoplasm due to dysplasia. 16% of the cases may have 20% or more blasts, in the range of acute leukemia with blasts of a myeloid lineage or bilineal lineage in two thirds of the cases, and of pure immature lymphoid lineage in one third of the cases <ref>{{Cite journal|last=Roy|first=Sukanya|last2=Szer|first2=Jeff|last3=Campbell|first3=Lynda J.|last4=Juneja|first4=Surender|date=2002|title=Sequential Transformation of t(8;13)-Related Disease|url=https://www.karger.com/Article/FullText/46637|journal=Acta Haematologica|language=en|volume=107|issue=2|pages=95–97|doi=10.1159/000046637|issn=0001-5792}}</ref>. Lymphoblastic lymphoma is more commonly seen in patients with t(8;13)<ref name=":6" />.
Lymph node biopsy: For patients who did undergo lymph node biopsy, 79% had T-lymphoblastic lymphoma and 21% myeloid sarcoma. Lymph nodes are infiltreated by small- or mediumsized lymphoblasts with fine or “dusty” chromatin and minimal cytoplasm. Eosinophils are frequently admixed with the lymphoblasts. Subtle myeloid component can be found in perivascular area. lymphoblastic component can be immunoreactive to TdT (terminal deoxynucleotidyl transferase), CD1a and pan-T-cell antigens while the subtle myeloid component can be positive for myeloperoxidase, CD15, CD68, CD117, lysozyme, or other myeloid-associated antigens<ref>{{Cite journal|last=Somers|first=Gino R.|last2=Slater|first2=Howard|last3=Rockman|first3=Steven|last4=Ekert|first4=Henry|last5=Southey|first5=Melissa C.|last6=Chow|first6=C.W.|last7=Armes|first7=Jane E.|last8=Venter|first8=Deon J.|date=1997|title=Coexistent T-Cell Lymphoblastic Lymphoma and an Atypical Myeloproliferative Disorder Associated with t(8;13)(p21;q14)|url=http://www.tandfonline.com/doi/full/10.1080/15513819709168354|journal=Pediatric Pathology & Laboratory Medicine|language=en|volume=17|issue=1|pages=141–158|doi=10.1080/15513819709168354|issn=1077-1042}}</ref> .
Basophilia can be found in cases with ''BCR-FGFR1'' fusion <ref>{{Cite journal|last=Roumiantsev|first=Sergei|last2=Krause|first2=Daniela S|last3=Neumann|first3=Carola A|last4=Dimitri|first4=Christopher A|last5=Asiedu|first5=Frances|last6=Cross|first6=Nicholas C.P|last7=Van Etten|first7=Richard A|date=2004|title=Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations|url=https://linkinghub.elsevier.com/retrieve/pii/S1535610804000534|journal=Cancer Cell|language=en|volume=5|issue=3|pages=287–298|doi=10.1016/S1535-6108(04)00053-4}}</ref>, and in cases with t(1;8)(q31.1;p11.2)/''TRP-FGFR1'' fusion <ref>{{Cite journal|last=Li|first=Feng|last2=Zhai|first2=Yong-Ping|last3=Tang|first3=Yu-Mei|last4=Wang|first4=Li-Ping|last5=Wan|first5=Pin-Jun|date=2012|title=Identification of a novel partner gene, TPR, fused to FGFR1 in 8p11 myeloproliferative syndrome|url=http://doi.wiley.com/10.1002/gcc.21973|journal=Genes, Chromosomes and Cancer|language=en|volume=51|issue=9|pages=890–897|doi=10.1002/gcc.21973}}</ref>''.'' Polycythaemia vera has been reported in cases with t(6;8)(q27;p11.2)/''FGFR1OP-FGFR1'' fusion <ref>{{Cite journal|last=Vizmanos|first=José L|last2=Hernández|first2=Roberto|last3=Vidal|first3=María J|last4=Larráyoz|first4=María J|last5=Odero|first5=María D|last6=Marín|first6=Julián|last7=Ardanaz|first7=María T|last8=Calasanz|first8=María J|last9=Cross|first9=Nicholas C P|date=2004|title=Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases|url=http://www.nature.com/doifinder/10.1038/sj.thj.6200561|journal=The Hematology Journal|volume=5|issue=6|pages=534–537|doi=10.1038/sj.thj.6200561|issn=1466-4860}}</ref>. 
==Immunophenotype==
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||<span class="blue-text">EXAMPLE:</span> CD1
|-
|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
|-
|Negative (universal)||<span class="blue-text">EXAMPLE:</span> CD3
|-
|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
|}
<blockquote class='blockedit'>{{Box-round|title=v4:Immunophenotype|The content below was from the old template. Please incorporate above.}}</blockquote>
Immunophenotypic analysis is not helpful in chronic phase disease. However, in lymphoblastic leukemia/lymphoma and in acute myeloid transformation, immunophenotypic analysis is important to distinguish the lineage origins, such as B- or T- lineage, or myeloid lineage <ref name=":0" />. Please refer to the above section "Morphologic Features".
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
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</blockquote>
==WHO Essential and Desirable Genetic Diagnostic Criteria==
==WHO Essential and Desirable Genetic Diagnostic Criteria==
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
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<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>


Various translocations with an 8p11 breakpoint are found. Depending on the partners, a variety of fusion genes with part of ''FGFR1'' from 8p11 can be formed, encoding aberrant tyrosine kinases. Note: Some precise mapping has positioned ''FGFR1'' locus to 8p12, instead of 8p11 <ref>{{Cite journal|last=Mozziconacci|first=Marie-Joëlle|last2=Carbuccia|first2=Nadine|last3=Prebet|first3=Thomas|last4=Charbonnier|first4=Aude|last5=Murati|first5=Anne|last6=Vey|first6=Norbert|last7=Chaffanet|first7=Max|last8=Birnbaum|first8=Daniel|date=2008|title=Common features of myeloproliferative disorders with t(8;9)(p12;q33) and CEP110–FGFR1 fusion: Report of a new case and review of the literature|url=https://linkinghub.elsevier.com/retrieve/pii/S0145212607004444|journal=Leukemia Research|language=en|volume=32|issue=8|pages=1304–1308|doi=10.1016/j.leukres.2007.11.012}}</ref>.
Various translocations with an 8p11 breakpoint are found. Depending on the partners, a variety of fusion genes with part of ''FGFR1'' from 8p11 can be formed, encoding aberrant tyrosine kinases. Note: Some precise mapping has positioned ''FGFR1'' locus to 8p12, instead of 8p11 <ref>{{Cite journal|last=Mozziconacci|first=Marie-Joëlle|last2=Carbuccia|first2=Nadine|last3=Prebet|first3=Thomas|last4=Charbonnier|first4=Aude|last5=Murati|first5=Anne|last6=Vey|first6=Norbert|last7=Chaffanet|first7=Max|last8=Birnbaum|first8=Daniel|date=2008|title=Common features of myeloproliferative disorders with t(8;9)(p12;q33) and CEP110–FGFR1 fusion: Report of a new case and review of the literature|url=https://linkinghub.elsevier.com/retrieve/pii/S0145212607004444|journal=Leukemia Research|language=en|volume=32|issue=8|pages=1304–1308|doi=10.1016/j.leukres.2007.11.012}}</ref>.
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|t(8;13)(p11.2;q12.1)
|t(8;13)(p11.2;q12.1)
|''ZMYM2-FGFR1''
|''ZMYM2-FGFR1''
|Most common, around 40% <ref>{{Cite journal|last=Popovici|first=C.|last2=Adelaide|first2=J.|last3=Ollendorff|first3=V.|last4=Chaffanet|first4=M.|last5=Guasch|first5=G.|last6=Jacrot|first6=M.|last7=Leroux|first7=D.|last8=Birnbaum|first8=D.|last9=Pebusque|first9=M.-J.|date=1998|title=Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13)(p12;q12)|url=http://www.pnas.org/cgi/doi/10.1073/pnas.95.10.5712|journal=Proceedings of the National Academy of Sciences|language=en|volume=95|issue=10|pages=5712–5717|doi=10.1073/pnas.95.10.5712|issn=0027-8424|pmc=PMC20444|pmid=9576949}}</ref><ref>{{Cite journal|last=Cross|first=Nicholas C. P.|last2=Goldman|first2=John M.|last3=Jennings|first3=Barbara A.|last4=Hernandez|first4=Jesus M.|last5=Gonçalves|first5=Cristina|last6=Aguiar|first6=Ricardo C. T.|last7=Macdonald|first7=Donald H. C.|last8=Chase|first8=Andrew|last9=Kulkarni|first9=Shashikant|date=1998|title=Consistent Fusion of ZNF198 to the Fibroblast Growth Factor Receptor-1 in the t(8;13)(p11;q12) Myeloproliferative Syndrome|url=https://ashpublications.org/blood/article/92/5/1735/247374/Consistent-Fusion-of-ZNF198-to-the-Fibroblast|journal=Blood|language=en|volume=92|issue=5|pages=1735–1742|doi=10.1182/blood.V92.5.1735|issn=0006-4971}}</ref><ref>{{Cite journal|last=Smedley|first=D|date=1998|title=The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP|url=https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/7.4.637|journal=Human Molecular Genetics|volume=7|issue=4|pages=637–642|doi=10.1093/hmg/7.4.637}}</ref><ref name=":3">{{Cite journal|last=Xiao|first=Sheng|last2=Nalabolu|first2=Srinivasa R.|last3=Aster|first3=Jon C.|last4=Ma|first4=Junli|last5=Abruzzo|first5=Lynne|last6=Jaffe|first6=Elaine S.|last7=Stone|first7=Richard|last8=Weissman|first8=Sherman M.|last9=Hudson|first9=Thomas J.|date=1998|title=FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome|url=http://www.nature.com/articles/ng0198-84|journal=Nature Genetics|language=en|volume=18|issue=1|pages=84–87|doi=10.1038/ng0198-84|issn=1061-4036}}</ref><ref>{{Cite journal|last=Bain|first=Barbara J.|last2=Fletcher|first2=Sarah H.|date=2007-08|title=Chronic Eosinophilic Leukemias and the Myeloproliferative Variant of the Hypereosinophilic Syndrome|url=http://dx.doi.org/10.1016/j.iac.2007.06.001|journal=Immunology and Allergy Clinics of North America|volume=27|issue=3|pages=377–388|doi=10.1016/j.iac.2007.06.001|issn=0889-8561}}</ref><ref name=":2" />
|Most common, around 40% <ref>{{Cite journal|last=Popovici|first=C.|last2=Adelaide|first2=J.|last3=Ollendorff|first3=V.|last4=Chaffanet|first4=M.|last5=Guasch|first5=G.|last6=Jacrot|first6=M.|last7=Leroux|first7=D.|last8=Birnbaum|first8=D.|last9=Pebusque|first9=M.-J.|date=1998|title=Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13)(p12;q12)|url=http://www.pnas.org/cgi/doi/10.1073/pnas.95.10.5712|journal=Proceedings of the National Academy of Sciences|language=en|volume=95|issue=10|pages=5712–5717|doi=10.1073/pnas.95.10.5712|issn=0027-8424|pmc=PMC20444|pmid=9576949}}</ref><ref>{{Cite journal|last=Cross|first=Nicholas C. P.|last2=Goldman|first2=John M.|last3=Jennings|first3=Barbara A.|last4=Hernandez|first4=Jesus M.|last5=Gonçalves|first5=Cristina|last6=Aguiar|first6=Ricardo C. T.|last7=Macdonald|first7=Donald H. C.|last8=Chase|first8=Andrew|last9=Kulkarni|first9=Shashikant|date=1998|title=Consistent Fusion of ZNF198 to the Fibroblast Growth Factor Receptor-1 in the t(8;13)(p11;q12) Myeloproliferative Syndrome|url=https://ashpublications.org/blood/article/92/5/1735/247374/Consistent-Fusion-of-ZNF198-to-the-Fibroblast|journal=Blood|language=en|volume=92|issue=5|pages=1735–1742|doi=10.1182/blood.V92.5.1735|issn=0006-4971}}</ref><ref>{{Cite journal|last=Smedley|first=D|date=1998|title=The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP|url=https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/7.4.637|journal=Human Molecular Genetics|volume=7|issue=4|pages=637–642|doi=10.1093/hmg/7.4.637}}</ref><ref name=":3">{{Cite journal|last=Xiao|first=Sheng|last2=Nalabolu|first2=Srinivasa R.|last3=Aster|first3=Jon C.|last4=Ma|first4=Junli|last5=Abruzzo|first5=Lynne|last6=Jaffe|first6=Elaine S.|last7=Stone|first7=Richard|last8=Weissman|first8=Sherman M.|last9=Hudson|first9=Thomas J.|date=1998|title=FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome|url=http://www.nature.com/articles/ng0198-84|journal=Nature Genetics|language=en|volume=18|issue=1|pages=84–87|doi=10.1038/ng0198-84|issn=1061-4036}}</ref><ref>{{Cite journal|last=Bain|first=Barbara J.|last2=Fletcher|first2=Sarah H.|date=2007-08|title=Chronic Eosinophilic Leukemias and the Myeloproliferative Variant of the Hypereosinophilic Syndrome|url=http://dx.doi.org/10.1016/j.iac.2007.06.001|journal=Immunology and Allergy Clinics of North America|volume=27|issue=3|pages=377–388|doi=10.1016/j.iac.2007.06.001|issn=0889-8561}}</ref><ref name=":2">{{Cite journal|last=Jackson|first=Courtney C.|last2=Medeiros|first2=L. Jeffrey|last3=Miranda|first3=Roberto N.|date=2010|title=8p11 myeloproliferative syndrome: a review|url=http://www.sciencedirect.com/science/article/pii/S0046817709004067|journal=Human Pathology|volume=41|issue=4|pages=461–476|doi=10.1016/j.humpath.2009.11.003|issn=0046-8177}}</ref>
|-
|-
|t(8;9)(p11.2;q33.2)
|t(8;9)(p11.2;q33.2)
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<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
<blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
* Chromosomal Rearrangements (Gene Fusions)
* Chromosomal Rearrangements (Gene Fusions)
* Individual Region Genomic Gain/Loss/LOH
* Individual Region Genomic Gain/Loss/LOH
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* Gene Mutations (SNV/INDEL)}}</blockquote>
* Gene Mutations (SNV/INDEL)}}</blockquote>


Unlike myeloid/lymphoid neoplasms with ''[[Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement#cite ref-:0 1-4|PDGFRA]]'' or ''PDGFRB'' rearrangement, the prognosis for this ''FGFR1'' associated entity is poor even for patient in the chronic phase, due to the high incidence of transformation. There is no established tyrosine kinase inhibitor therapy for myeloproliferative neoplasms with ''FGFR1'' rearrangement. Midostaurin (PKC412) was reported to be effective in one case <ref>{{Cite journal|last=Chen|first=J.|last2=DeAngelo|first2=D. J.|last3=Kutok|first3=J. L.|last4=Williams|first4=I. R.|last5=Lee|first5=B. H.|last6=Wadleigh|first6=M.|last7=Duclos|first7=N.|last8=Cohen|first8=S.|last9=Adelsperger|first9=J.|date=2004|title=PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder|url=http://www.pnas.org/cgi/doi/10.1073/pnas.0404438101|journal=Proceedings of the National Academy of Sciences|language=en|volume=101|issue=40|pages=14479–14484|doi=10.1073/pnas.0404438101|issn=0027-8424|pmc=PMC521956|pmid=15448205}}</ref>, and interferon has induced cytogenetic response in several cases <ref name=":1" /> <ref>{{Cite journal|last=Holmes|first=A L|last2=Raper|first2=R N|last3=Heilig|first3=J S|date=1998|title=Genetic analysis of Drosophila larval optic nerve development.|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1460051/|journal=Genetics|volume=148|issue=3|pages=1189–1201|issn=0016-6731|pmc=1460051|pmid=9539434}}</ref>. Nevertheless, haematopoietic stem cell transplantation should be considered even for patients in chronic phase.
Unlike myeloid/lymphoid neoplasms with ''[[Myeloid/Lymphoid Neoplasms with PDGFRA Rearrangement#cite ref-:0 1-4|PDGFRA]]'' or ''PDGFRB'' rearrangement, the prognosis for this ''FGFR1'' associated entity is poor even for patient in the chronic phase, due to the high incidence of transformation. There is no established tyrosine kinase inhibitor therapy for myeloproliferative neoplasms with ''FGFR1'' rearrangement. Midostaurin (PKC412) was reported to be effective in one case <ref>{{Cite journal|last=Chen|first=J.|last2=DeAngelo|first2=D. J.|last3=Kutok|first3=J. L.|last4=Williams|first4=I. R.|last5=Lee|first5=B. H.|last6=Wadleigh|first6=M.|last7=Duclos|first7=N.|last8=Cohen|first8=S.|last9=Adelsperger|first9=J.|date=2004|title=PKC412 inhibits the zinc finger 198-fibroblast growth factor receptor 1 fusion tyrosine kinase and is active in treatment of stem cell myeloproliferative disorder|url=http://www.pnas.org/cgi/doi/10.1073/pnas.0404438101|journal=Proceedings of the National Academy of Sciences|language=en|volume=101|issue=40|pages=14479–14484|doi=10.1073/pnas.0404438101|issn=0027-8424|pmc=PMC521956|pmid=15448205}}</ref>, and interferon has induced cytogenetic response in several cases <ref name=":1">{{Cite journal|last=Macdonald|first=Donald|last2=Reiter|first2=Andreas|last3=Cross|first3=Nicholas C.P.|date=2002|title=The 8p11 Myeloproliferative Syndrome: A Distinct Clinical Entity Caused by Constitutive Activation of FGFR1|url=https://www.karger.com/Article/FullText/46639|journal=Acta Haematologica|language=en|volume=107|issue=2|pages=101–107|doi=10.1159/000046639|issn=0001-5792}}</ref> <ref>{{Cite journal|last=Holmes|first=A L|last2=Raper|first2=R N|last3=Heilig|first3=J S|date=1998|title=Genetic analysis of Drosophila larval optic nerve development.|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1460051/|journal=Genetics|volume=148|issue=3|pages=1189–1201|issn=0016-6731|pmc=1460051|pmid=9539434}}</ref>. Nevertheless, haematopoietic stem cell transplantation should be considered even for patients in chronic phase.


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A variety of translocations involving 8p11 breakpoint. Secondary cytogenetic abnormalities also occur, most commonly trisomy 21 <ref name=":0" />.
A variety of translocations involving 8p11 breakpoint. Secondary cytogenetic abnormalities also occur, most commonly trisomy 21 <ref name=":0">Bain BJ, et al., (2017). Myeloid/lymphoid neoplasms with FGFR1 rearrangement in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p77-78.</ref>.


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Normal FGFR1 is a transmembrane protein with an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic tyrosine kinase domain. In inactive state, FGFR1 presents as monomers in cell membrane. Binding with ligands--the fibroblast growth factors (FGFs), induces dimerization and a conformational change that partially activates the enzymatic activity leading to transphosphorylation of the key tyrosine residue, an increase in enzymatic activity, phosphorylation of additional tyrosines and subsequent phosphorylation of downstream target substrates. The signaling pathways include Ras/MAPK, P13K, PLCÁ and STAT proteins. Fusion proteins with FGFR1 mimic the initial tyrosine kinase activation and thus possess constitutive tyrosine kinase activity to activate multiple signal transduction pathways in myeloid/lymphoid neoplasms <ref>{{Cite journal|last=Ollendorff|first=Vincent|last2=Guasch|first2=Géraldine|last3=Isnardon|first3=Daniel|last4=Galindo|first4=Rémy|last5=Birnbaum|first5=Daniel|last6=Pébusque|first6=Marie-Josèphe|date=1999|title=Characterization of FIM-FGFR1, the Fusion Product of the Myeloproliferative Disorder-associated t(8;13) Translocation|url=http://www.jbc.org/lookup/doi/10.1074/jbc.274.38.26922|journal=Journal of Biological Chemistry|language=en|volume=274|issue=38|pages=26922–26930|doi=10.1074/jbc.274.38.26922|issn=0021-9258}}</ref><ref>{{Cite journal|last=Jiang|first=Guoqiang|last2=den Hertog|first2=Jeroen|last3=Hunter|first3=Tony|date=2000|title=Receptor-Like Protein Tyrosine Phosphatase α Homodimerizes on the Cell Surface|url=https://mcb.asm.org/content/20/16/5917|journal=Molecular and Cellular Biology|language=en|volume=20|issue=16|pages=5917–5929|doi=10.1128/MCB.20.16.5917-5929.2000|issn=1098-5549|pmc=PMC86069|pmid=10913175}}</ref><ref>{{Cite journal|last=Mason|first=Ivor J.|date=1994|title=The ins and outs of fibroblast growth factors|url=https://linkinghub.elsevier.com/retrieve/pii/0092867494905207|journal=Cell|language=en|volume=78|issue=4|pages=547–552|doi=10.1016/0092-8674(94)90520-7}}</ref><ref>{{Cite journal|last=Smedley|first=Damian|last2=Demiroglu|first2=Asuman|last3=Abdul-Rauf|first3=Munah|last4=Heatht|first4=Carol|last5=Cooper|first5=Colin|last6=Shipley|first6=Janet|last7=Cross|first7=Nicholas C.P.|date=1999|title=ZNF198-FGFR1 Transforms Ba/F3 Cells to Growth Factor Independence and Results in High Level Tyrosine Phosphorylation of STATS 1 and 5|url=https://linkinghub.elsevier.com/retrieve/pii/S1476558699800268|journal=Neoplasia|language=en|volume=1|issue=4|pages=349–355|doi=10.1038/sj.neo.7900035|pmc=PMC1508104|pmid=10935490}}</ref>.
Normal FGFR1 is a transmembrane protein with an extracellular ligand-binding domain, a transmembrane domain and a cytoplasmic tyrosine kinase domain. In inactive state, FGFR1 presents as monomers in cell membrane. Binding with ligands--the fibroblast growth factors (FGFs), induces dimerization and a conformational change that partially activates the enzymatic activity leading to transphosphorylation of the key tyrosine residue, an increase in enzymatic activity, phosphorylation of additional tyrosines and subsequent phosphorylation of downstream target substrates. The signaling pathways include Ras/MAPK, P13K, PLCÁ and STAT proteins. Fusion proteins with FGFR1 mimic the initial tyrosine kinase activation and thus possess constitutive tyrosine kinase activity to activate multiple signal transduction pathways in myeloid/lymphoid neoplasms <ref>{{Cite journal|last=Ollendorff|first=Vincent|last2=Guasch|first2=Géraldine|last3=Isnardon|first3=Daniel|last4=Galindo|first4=Rémy|last5=Birnbaum|first5=Daniel|last6=Pébusque|first6=Marie-Josèphe|date=1999|title=Characterization of FIM-FGFR1, the Fusion Product of the Myeloproliferative Disorder-associated t(8;13) Translocation|url=http://www.jbc.org/lookup/doi/10.1074/jbc.274.38.26922|journal=Journal of Biological Chemistry|language=en|volume=274|issue=38|pages=26922–26930|doi=10.1074/jbc.274.38.26922|issn=0021-9258}}</ref><ref>{{Cite journal|last=Jiang|first=Guoqiang|last2=den Hertog|first2=Jeroen|last3=Hunter|first3=Tony|date=2000|title=Receptor-Like Protein Tyrosine Phosphatase α Homodimerizes on the Cell Surface|url=https://mcb.asm.org/content/20/16/5917|journal=Molecular and Cellular Biology|language=en|volume=20|issue=16|pages=5917–5929|doi=10.1128/MCB.20.16.5917-5929.2000|issn=1098-5549|pmc=PMC86069|pmid=10913175}}</ref><ref>{{Cite journal|last=Mason|first=Ivor J.|date=1994|title=The ins and outs of fibroblast growth factors|url=https://linkinghub.elsevier.com/retrieve/pii/0092867494905207|journal=Cell|language=en|volume=78|issue=4|pages=547–552|doi=10.1016/0092-8674(94)90520-7}}</ref><ref>{{Cite journal|last=Smedley|first=Damian|last2=Demiroglu|first2=Asuman|last3=Abdul-Rauf|first3=Munah|last4=Heatht|first4=Carol|last5=Cooper|first5=Colin|last6=Shipley|first6=Janet|last7=Cross|first7=Nicholas C.P.|date=1999|title=ZNF198-FGFR1 Transforms Ba/F3 Cells to Growth Factor Independence and Results in High Level Tyrosine Phosphorylation of STATS 1 and 5|url=https://linkinghub.elsevier.com/retrieve/pii/S1476558699800268|journal=Neoplasia|language=en|volume=1|issue=4|pages=349–355|doi=10.1038/sj.neo.7900035|pmc=PMC1508104|pmid=10935490}}</ref>.
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<nowiki>*</nowiki>''Citation of this Page'': “Myeloid/lymphoid neoplasm with FGFR1 rearrangement”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myeloid/lymphoid_neoplasm_with_FGFR1_rearrangement</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Myeloid/lymphoid neoplasm with FGFR1 rearrangement”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Myeloid/lymphoid_neoplasm_with_FGFR1_rearrangement</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases M]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases M]]
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