Myeloid/lymphoid neoplasm with FGFR1 rearrangement

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Haematolymphoid Tumours (5th ed.)

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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.

Primary Author(s)*

Yanna Ding, MD PhD

Cancer Category / Type

Myeloid/lymphoid neoplasms

Cancer Sub-Classification / Subtype

Myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement

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[1]. The neoplastic cells derive from a pluripotent haematopoietic stem cell and may be immature or mature[2]. 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 [3].

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 [2]

Epidemiology / Prevalence

The median age at disease onset is 32 years, although it can occur within a wide age range of 3-84 years [4]. There is a moderate predominance of male with male-to-female ratio of 1.5:1, unlike in myeloid/lymphoid neoplasms with PDGFRA or PDGFRB rearrangement [2].

Clinical Features

Put your text here and fill in the table (Instruction: Can include references in the table)

Signs and Symptoms EXAMPLE Asymptomatic (incidental finding on complete blood counts)

EXAMPLE B-symptoms (weight loss, fever, night sweats)

EXAMPLE Fatigue

EXAMPLE Lymphadenopathy (uncommon)

Laboratory Findings EXAMPLE Cytopenias

EXAMPLE Lymphocytosis (low level)


editv4:Clinical Features
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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 [1]. 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 [4] [5] [6]. Extranodal sites of disease include tonsil, lung, and breast in small subsets of patients [1].

Sites of Involvement

Bone marrow, peripheral blood, lymph nodes, liver and spleen are primarily involved. Lymphoblasts or myeloid cells infiltration results in lymphadenopathy [2].

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 × 109/L[1].

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 [7]. Lymphoblastic lymphoma is more commonly seen in patients with t(8;13)[3].

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[8] .

Basophilia can be found in cases with BCR-FGFR1 fusion [9], and in cases with t(1;8)(q31.1;p11.2)/TRP-FGFR1 fusion [10]. Polycythaemia vera has been reported in cases with t(6;8)(q27;p11.2)/FGFR1OP-FGFR1 fusion [11].

Immunophenotype

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Finding Marker
Positive (universal) EXAMPLE CD1
Positive (subset) EXAMPLE CD2
Negative (universal) EXAMPLE CD3
Negative (subset) EXAMPLE CD4


editv4:Immunophenotype
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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 [2]. Please refer to the above section "Morphologic Features".

Chromosomal Rearrangements (Gene Fusions)

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Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE t(9;22)(q34;q11.2) EXAMPLE 3'ABL1 / 5'BCR EXAMPLE der(22) EXAMPLE 20% (COSMIC)

EXAMPLE 30% (add reference)

Yes No Yes EXAMPLE

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).


editv4:Chromosomal Rearrangements (Gene Fusions)
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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 [12].

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Prevalence
t(8;13)(p11.2;q12.1) ZMYM2-FGFR1 Most common, around 40% [13][14][15][16][17][1]
t(8;9)(p11.2;q33.2) CNTRL-FGFR1 Around 17% [1][18]
t(6;8)(q27;p11.2) FGFR1OP-FGFR1 Around 9% [1] [19]
t(8;22)(p11.2;q11.2) BCR-FGFR1 At least eight cases[20][21][22][23][24]
t(7;8)(q33;p11.2) TRIM24-FGFR1 At least two cases [25][26]
t(8;17)(p11.2;q23) MYO18A-FGFR1 At least one case[27]
t(8;19)(p11.2;q13.3) HERVK-FGFR1 At least one case [28][29]
ins(12;8)(p11.2;p11.2p22) FGFR1OP2-FGFR1 At least two cases [26][30]
t(1;8)(q31.1;p11.2) TRP-FGFR1 At least one case [31]
t(2;8)(q13;p11.2) RANBP2-FGFR1 At least one case [32]
t(2;8)(q37.3;p11.2) LRRFIP1-FGFR1 At least one case [33]
t(7;8)(q22.1;p11.2) CUX1-FGFR1 At least one case [34]
t(8;12)(p11.2;q15) CPSF6-FGFR1 At least two cases [26][35]
t(5;8)(q35;p11) SQSTM1-FGFR1 One case [36]


editv4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).
Please incorporate this section into the relevant tables found in:
  • Chromosomal Rearrangements (Gene Fusions)
  • Individual Region Genomic Gain/Loss/LOH
  • Characteristic Chromosomal Patterns
  • Gene Mutations (SNV/INDEL)

Unlike myeloid/lymphoid neoplasms with 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 [37], and interferon has induced cytogenetic response in several cases [4] [38]. Nevertheless, haematopoietic stem cell transplantation should be considered even for patients in chronic phase.

Individual Region Genomic Gain / Loss / LOH

Put your text here and fill in the table (Instructions: Includes aberrations not involving gene fusions. Can include references in the table. Can refer to CGC workgroup tables as linked on the homepage if applicable.)

Chr # Gain / Loss / Amp / LOH Minimal Region Genomic Coordinates [Genome Build] Minimal Region Cytoband Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE

7

EXAMPLE Loss EXAMPLE

chr7:1- 159,335,973 [hg38]

EXAMPLE

chr7

Yes Yes No EXAMPLE

Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).

EXAMPLE

8

EXAMPLE Gain EXAMPLE

chr8:1-145,138,636 [hg38]

EXAMPLE

chr8

No No No EXAMPLE

Common recurrent secondary finding for t(8;21) (add reference).

Characteristic Chromosomal Patterns

Put your text here (EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis)

Chromosomal Pattern Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE

Co-deletion of 1p and 18q

Yes No No EXAMPLE:

See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).

editv4:Characteristic Chromosomal Aberrations / Patterns
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A variety of translocations involving 8p11 breakpoint. Secondary cytogenetic abnormalities also occur, most commonly trisomy 21 [2].

Gene Mutations (SNV / INDEL)

Put your text here and fill in the table (Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent and common as well either disease defining and/or clinically significant. Can include references in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity.)

Gene; Genetic Alteration Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other) Prevalence (COSMIC / TCGA / Other) Concomitant Mutations Mutually Exclusive Mutations Diagnostic Significance (Yes, No or Unknown) Prognostic Significance (Yes, No or Unknown) Therapeutic Significance (Yes, No or Unknown) Notes
EXAMPLE: TP53; Variable LOF mutations

EXAMPLE:

EGFR; Exon 20 mutations

EXAMPLE: BRAF; Activating mutations

EXAMPLE: TSG EXAMPLE: 20% (COSMIC)

EXAMPLE: 30% (add Reference)

EXAMPLE: IDH1 R123H EXAMPLE: EGFR amplification EXAMPLE:  Excludes hairy cell leukemia (HCL) (add reference).


Note: A more extensive list of mutations can be found in cBioportal (https://www.cbioportal.org/), COSMIC (https://cancer.sanger.ac.uk/cosmic), ICGC (https://dcc.icgc.org/) and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

Epigenomic Alterations

Put your text here

Genes and Main Pathways Involved

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Gene; Genetic Alteration Pathway Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations EXAMPLE: MAPK signaling EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations EXAMPLE: Cell cycle regulation EXAMPLE: Unregulated cell division
EXAMPLE:  KMT2C and ARID1A; Inactivating mutations EXAMPLE:  Histone modification, chromatin remodeling EXAMPLE:  Abnormal gene expression program
editv4:Genes and Main Pathways Involved
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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 [39][40][41][42].

Genetic Diagnostic Testing Methods

Diagnosis is based on integration of morphology, immunophenotype, cytogenetics analysis and molecular analysis. Identification of translocations involving FGFR1 and the corresponding fusion genes is diagnostic in the setting of myeloid or lymphoid neoplasm with prominent eosinophilia. Conventional cytogenetic analysis is useful since almost all the translocations or insertions involving FGFR1 have been cytogenetically visible [43][1]. Translocations of FGFR1 and the associated fusion genes can be more specifically detected by two-color fluorescence in situ hybridization (FISH), and reverse transcriptase–polymerase chain reaction (RT-PCR) [16] [29][44].

Familial Forms

Put your text here (Instructions: Include associated hereditary conditions/syndromes that cause this entity or are caused by this entity.)

Additional Information

Put your text here

Links

FGFR1

References

  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 Jackson, Courtney C.; et al. (2010). "8p11 myeloproliferative syndrome: a review". Human Pathology. 41 (4): 461–476. doi:10.1016/j.humpath.2009.11.003. ISSN 0046-8177.
  2. 2.0 2.1 2.2 2.3 2.4 2.5 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.
  3. 3.0 3.1 Duckworth, Christina B; et al. (2014). "Systemic mastocytosis with associated myeloproliferative neoplasm with t(8;19)(p12;q13.1) and abnormality of FGFR1: report of a unique case". International Journal of Clinical and Experimental Pathology. 7 (2): 801–807. ISSN 1936-2625. PMC 3925931. PMID 24551307.
  4. 4.0 4.1 4.2 Macdonald, Donald; et al. (2002). "The 8p11 Myeloproliferative Syndrome: A Distinct Clinical Entity Caused by Constitutive Activation of FGFR1". Acta Haematologica. 107 (2): 101–107. doi:10.1159/000046639. ISSN 0001-5792.
  5. Abruzzo, Lynne V.; et al. (1992). "T-Cell Lymphoblastic Lymphoma With Eosinophilia Associated With Subsequent Myeloid Malignancy:". The American Journal of Surgical Pathology. 16 (3): 236–245. doi:10.1097/00000478-199203000-00003. ISSN 0147-5185.
  6. Vega, Francisco; et al. (2015). "Hematolymphoid Neoplasms Associated With Rearrangements of PDGFRA, PDGFRB, and FGFR1". American Journal of Clinical Pathology. 144 (3): 377–392. doi:10.1309/AJCPMORR5Z2IKCEM. ISSN 1943-7722.
  7. Roy, Sukanya; et al. (2002). "Sequential Transformation of t(8;13)-Related Disease". Acta Haematologica. 107 (2): 95–97. doi:10.1159/000046637. ISSN 0001-5792.
  8. Somers, Gino R.; et al. (1997). "Coexistent T-Cell Lymphoblastic Lymphoma and an Atypical Myeloproliferative Disorder Associated with t(8;13)(p21;q14)". Pediatric Pathology & Laboratory Medicine. 17 (1): 141–158. doi:10.1080/15513819709168354. ISSN 1077-1042.
  9. Roumiantsev, Sergei; et al. (2004). "Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations". Cancer Cell. 5 (3): 287–298. doi:10.1016/S1535-6108(04)00053-4.
  10. Li, Feng; et al. (2012). "Identification of a novel partner gene, TPR, fused to FGFR1 in 8p11 myeloproliferative syndrome". Genes, Chromosomes and Cancer. 51 (9): 890–897. doi:10.1002/gcc.21973.
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  13. Popovici, C.; et al. (1998). "Fibroblast growth factor receptor 1 is fused to FIM in stem-cell myeloproliferative disorder with t(8;13)(p12;q12)". Proceedings of the National Academy of Sciences. 95 (10): 5712–5717. doi:10.1073/pnas.95.10.5712. ISSN 0027-8424. PMC 20444. PMID 9576949.CS1 maint: PMC format (link)
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  16. 16.0 16.1 Xiao, Sheng; et al. (1998). "FGFR1 is fused with a novel zinc-finger gene, ZNF198, in the t(8;13) leukaemia/lymphoma syndrome". Nature Genetics. 18 (1): 84–87. doi:10.1038/ng0198-84. ISSN 1061-4036.
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  18. Pébusque, Marie-Josèphe; et al. (2000). "FGFR1 is fused to the centrosome-associated proteinCEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33)". Blood. 95 (5): 1788–1796. doi:10.1182/blood.V95.5.1788.005k15_1788_1796. ISSN 0006-4971.
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Notes

*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.


*Citation of this Page: “Myeloid/lymphoid neoplasm with FGFR1 rearrangement”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 12/7/2023, https://ccga.io/index.php/HAEM5:Myeloid/lymphoid_neoplasm_with_FGFR1_rearrangement.