Symptoma

Myeloid Neoplasm Associated with FGFR1 Rearrangement

Stem Cell Leukemia

Patients with FGFR1 rearrangements have the most aggressive course and can present with acute myeloid leukemia and T-cell or B-cell lymphoblastic leukemia/lymphoma. [ncbi.nlm.nih.gov]

[…] called stem cell leukemia / lymphoma syndrome Aggressive hematologic malignancy characterized by myeloid hyperplasia, eosinophilia and precursor lymphoblastic lymphoma, usually T cell type ( Acta Haematol 2002;107:101, Am J Surg Pathol 2008;32:14 ) Can present [pathologyoutlines.com]

Myeloid neoplasms with PDGFRB usually present as chronic myelomonocytic leukemia, but may also present as atypical chronic myeloid leukemia (aCML), CEL, MPN with eosinophilia, AML and juvenile myelomonocytic leukemia (JMML). [neogenomics.com]

In patients who present with CEL there may be subsequent transformation to AML, T or B lymphoblastic leukaemia or MPAL. [viapath.co.uk]

  • Generalized Lymphadenopathy

    Here, we report an additional case of a 64-year-old gentleman with leukocytosis, eosinophilia and diffuse mediastinal and general lymphadenopathy. [karger.com]

    In the same year, Rao et al. reported a patient with t(8;13)(p11;q12) who presented with leukocytosis, monocytosis, myeloid hyperplasia of bone marrow, and generalized lymphadenopathy due to T-cell lymphoblastic lymphoma (Rao et al., 1998). [atlasgeneticsoncology.org]

    Two patients had generalized lymphadenopathy and splenomegaly (cases 137 and 246), and one patient had cervical lymphadenopathy (case 12). [ajcp.oxfordjournals.org]

  • Fishing

    Cell number of cells with the fusion gene (by FISH or qPCR for negative results) are displayed in red. [ncbi.nlm.nih.gov]

    […] myelomonocytic leukemia with eosinophilia ( Acta Haematol 2002;107:113 ) FGFR1 associated with leukemia / lymphoma should be classified as leukemia / lymphoma associated with FGFR1 rearrangement Molecular / cytogenetics images Images hosted on other servers: FISH [pathologyoutlines.com]

    Description: TESTS AVAILABLE: Karyotyping and FISH. [viapath.co.uk]

    Test Methodology Fluorescence In Situ Hybridization (FISH) Analysis. Interpretation A positive FISH result indicates deletion of the CHIC2 gene which lies between the FIP1L1 and PDGFRa loci in band 4q12. [beaumontlaboratory.com]

  • Hunting

    Davis MI, Hunt JP, Herrgard S, Ciceri P, Wodicka LM, Pallares G, Hocker M, Treiber DK, Zarrinkar PP. (2011) Comprehensive analysis of kinase inhibitor selectivity. Nat. Biotechnol., 29 (11): 1046-51. [PMID:22037378] 9. [guidetopharmacology.org]

    Bhide RS, Lombardo LJ, Hunt JT, Cai ZW, Barrish JC, Galbraith S, Jeyaseelan R Sr, Mortillo S, Wautlet BS, Krishnan B, Kukral D, Malone H, Lewin AC, Henley BJ, Fargnoli J. Mol Cancer Ther. 2010 Feb;9(2):369-78. Epub 2010 Jan 26. [atlasgeneticsoncology.org]

  • Pulmonary Disorder

    Disorders; Eosinophilia in Infectious Diseases; Eosinophilia associated with Immune Deficiency and Immune Dysregulation; Eosinophilia in Dermatologic disorders; Management of Hypereosinophilic Syndromes; and Novel Therapies for Eosinophilic Disorders [books.google.com]

  • Vascular Disease

    diseases Kimura disease Vasculitis Cyclical eosinophilia Aberrant T cell population associated eosinophilia Also known as lymphocyte variant hypereosinophilia Abnormal T cell population does not meet diagnostic criteria for leukemia or lymphoma Causes [surgpathcriteria.stanford.edu]

  • Erythema

    Symptoms related to release of eosinophilic granules occur, commonly skin rash and erythema and less frequently pulmonary, gastrointestinal tract, and/or cardiac manifestations. [ajcp.oxfordjournals.org]

  • Suggestibility

    This test should be done where morphology is suggestive of a non-classic MPN. [viapath.co.uk]

    This suggests that the clone with both the mutation and the rearrangement had a proliferative advantage over cells with only a FGFR1 rearrangement. [ncbi.nlm.nih.gov]

    FISH studies performed on the peripheral blood revealed 4q12 deletion suggestive of the presence of FIP1L1-PDGFRA fusion Image 4. [ajcp.oxfordjournals.org]

    The term 8p11 myeloproliferative syndrome was suggested in 1995 by Macdonald et al. (Aguiar et al., 1995; Macdonald et al., 1995) and confirmed as clinical entity (SCLL) by Inhorn et al. (Inhorn et al., 1995). [atlasgeneticsoncology.org]

    The phenomenon indicates that different types of myeloid neoplasms associated with PDGFRB rearrangement can transform into one another with the progression of the disease, and to some extent, this transformation suggests the aggravation of disease. [cancerjournal.net]

At initial diagnosis or before treatment the RUNX1 mutations were subclonal. [ncbi.nlm.nih.gov]

Resolution of a steroid-resistant, hypereosinophilic immune diathesis with mepolizumab and concomitant amelioration of a mixed thrombotic microangiopathy, Blood Cells, Molecules, and Diseases, 2017 CrossRef 6 Jason Gotlib, Tyrosine Kinase Inhibitors in the Treatment [onlinelibrary.wiley.com]

BCR/ABL1 tyrosine kinase inhibitors (TKIs ) have been developed as a first line treatment for patients with CML. These include Imatinab and Desatinab but there are also other treatments. [viapath.co.uk]

• Oral once daily dosing: 21-day (2-weeks-on/1-week-off) cycle Start disease assessment* after cycle 2 • Stable disease/partial or complete response continue treatment on 21-day cycle • Disease progression discontinue treatment; safety and survival follow-up [cancerres.aacrjournals.org]

This form of myeloid sarcoma is distinguished by its highly successful treatment with imatinib (the recommended treatment for FIP1L1-PDGRGA fusion gene-induced eosinophilic leukemia) rather than more aggressive and toxic therapy. [5] Primary chloroma [en.wikipedia.org]

Imatinib mesylate (imatinib) is the first-line therapy for patients with abnormalities of PDGFRA/B, whereas patients with FGFR1 fusions are resistant to this therapy and carry a poor prognosis. [ncbi.nlm.nih.gov]

[…] definition to require biallelic mutations. • A provisional category of AML with mutated RUNX1 has been added to the classification for cases of de novo AML with this mutation which has possibly worse prognosis than other AML types. 39. [slideshare.net]

Disease prognosis relies on accurately classifying the eosinophilia. [eposters.net]

[…] kinases or cytokine receptors (“BCR-ABL1–like ALL”) association with an adverse prognosis responses of some cases to TKI therapies Early T-precursor (ETP) ALL leukemia : Early T-precursor (ETP) ALL leukemia Early T-cell differentiation, with retention [authorstream.com]

[…] prognostic significance. [10] In case of primary isolated choloroma, prognosis is better [11] Treatment [ edit ] As described above, chloromas should always be considered manifestations of systemic disease, rather than isolated local phenomena, and treated [en.wikipedia.org]

Etiology The FGFR1 fusion proteins that result from chromosomal translocations affecting 8p11 have constitutive and ligand-independent FGFR1 enzymatic activity. [atlasgeneticsoncology.org]

Z Other myeloid leukemia (effective October 01, 2015) Signs and Symptoms Fever Hypermetabolism Lymph node enlargement Night sweats Splenomegaly Weight loss Diagnostic Exams Immunophenotyping Peripheral blood smear Progression and Transformation None Epidemiology [seer.cancer.gov]

Definition and Epidemiology Definition The precursors of plasmacytoid dendritic cells are the cells of origin for blastic plasmacytoid dendritic cell neoplasm (BPDCN), a clinically aggressive disease with a proclivity for the skin and leukemic involvement [emedicine.medscape.com]

Epidemiology This is a very rare disease with less than 100 patients reported around the world and it can be found at any age. It has been reported at ages ranging from 3 to 84 years (median: 44 years). [atlasgeneticsoncology.org]

Curr Opin Hematol 20(2):169–175 PubMed CrossRef Google Scholar Tefferi A, Vainchenker W (2011) Myeloproliferative neoplasms: molecular pathophysiology, essential clinical understanding, and treatment strategies. [link.springer.com]

Pathophysiology and treatment of the myelodysplastic syndrome with isolated 5q deletion. Haematologica. 2010 Mar 1;95(3):348-51 ; PMid:20207839 PMCid:PMC2833060. 7. Gokalp-Yasar D, Liu JM. [actamedicainternational.com]

A serious AE is an event resulting in death, hospitalization, persistent or significant disability/incapacity, or is life threatening, a congenital anomaly/birth defect or requires medical or surgical intervention to prevent 1 of the outcomes above. [clinicaltrials.gov]

Diagnostic criteria for polycythemia vera (PV) are notably changed to lower the hemoglobin threshold and thus prevent underdiagnosis. [hematology.org]

• So required haemoglobin levels as a criteria are reduced and incorporated with PV bone marrow morphology to prevent underdiagnoses of PV. 17. Polycythemia vera 18. [slideshare.net]

FGFR1 pharmacologic inhibitors have been shown to prevent skeletal abnormalities in mice models. [academic.oup.com]