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Myeloid Neoplasm Associated with PDGFRB Rearrangement

Myeloid Neoplasms Associated with Pdgfrb Rearrangement


  • Although eosinophilia is characteristic of these diseases, the clinical presentation of the three entities is variable.[ncbi.nlm.nih.gov]
  • Here, we discuss the case of 51 year old man who presented with nodal myeloid sarcoma mimicking lymphoma as the presenting feature of his FIP1L1 - PDGFRA myeloid neoplasm.[jscimedcentral.com]
  • Eosinophilia with PDGFRB gene rearrangement and isolated del 5q; an extremely rare presentation of myeloid neoplasm.[actamedicainternational.com]
  • In patients who present with CEL there may be subsequent transformation to AML, T or B lymphoblastic leukaemia or MPAL.[viapath.co.uk]
  • Clinics Patients typically present with splenomegaly with hepatomegaly being less frequent; lymphadenopathy may also be seen. As with abnormalities of PDGFRA, skin and cardiac infiltration may be present at diagnosis with resulting cardiac damage.[atlasgeneticsoncology.org]
Cervical Lymphadenopathy
  • Two patients had generalized lymphadenopathy and splenomegaly (cases 137 and 246), and one patient had cervical lymphadenopathy (case 12).[ajcp.oxfordjournals.org]
Generalized Lymphadenopathy
  • Two patients had generalized lymphadenopathy and splenomegaly (cases 137 and 246), and one patient had cervical lymphadenopathy (case 12).[ajcp.oxfordjournals.org]
  • Conventional cytogenetics (karyotyping) will detect the majority of abnormalities involving PDGFRB and FGFR1, but florescence in situ hybridization (FISH)/molecular studies are required to detect factor interacting with PAP (FIP1L1)-PDGFRA as the characteristic[ncbi.nlm.nih.gov]
  • For these considerations, one can submit peripheral blood for FISH - BCR/ABL t(9;22), FISH -del 4q12; and PCR for JAK2 V617F mutation.[mplnet.com]
  • 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]
  • Description: TESTS AVAILABLE: Karyotyping and FISH.[viapath.co.uk]
  • Cytogenetic studies (karyotyping and FISH) revealed trisomy 8.[ajcp.oxfordjournals.org]
  • Outstanding images make this an invaluable diagnostic aid for every practicing pathologist, resident, or fellow.[books.google.com]
  • […] survivals of less than 18 months (since individuals meeting these criteria for TKI resistance may often live longer than 18 months), or whether a new conceptual framework for defining AP disease in the modern TKI era needs to be considered by clinicians and pathologists[hematology.org]
  • He is member and fellow of Royal College of Pathologists, UK. He is currently Medical Director of National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi and Director Stem Cell Research.[actamedicainternational.com]
  • . • In 2014, a clinical advisory committee (CAC) composed of 100 pathologists, haematologists, oncologists and geneticists from around the world convened to propose revisions to the fourth edition of the WHO classification. 3.[slideshare.net]
  • However, we have observed other pathologists use this designation as a diagnosis in pathology reports, with resulting clinicians’ dissatisfaction.[ajcp.oxfordjournals.org]
  • Case Presentation A 51-year-old Caucasian male presented with severe back pain, night sweats, weight loss and bilateral lower extremity weakness for two weeks. Physical examination showed splenomegaly.[jscimedcentral.com]
  • RT-PCR with primers PDGFRB-2b and NIN-7 showed very weak amplification of the predicted reciprocal PDGFRB-NIN fusion, the identity of which was confirmed by sequencing (Fig. 2 A.3 ) . Fig. 2.[cancerres.aacrjournals.org]
  • Clinical history The patient, a 70 year old male, initially presented with progressive weakness and chest pain. The complete blood count (CBC) revealed a white blood cell count (WBC) of 100.0x10 9 /L.[hoajonline.com]
  • Case 363 was from a 70-year-old man who had weakness and fatigue. The BM revealed AML without increased eosinophils. Conventional cytogenetic studies showed 46,XY,t(2;4)(p11.2;q12[18]/46,XY[2].[ajcp.oxfordjournals.org]
Severe Pain
  • A 35-year-old male was admitted to hospital in September 1989 with severe pain and swelling in the right ankle. No fever and no systemic symptoms were observed.[cancerres.aacrjournals.org]
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]
Long Arm
  • FISH NEGATIVE for BCR/ABL t(9;22) and POSITIVE for deletion of 4q12 Cytogenetics Revealed an abnormal karyotype with an interstitial deletion of the long arm of chromosome 13 in 15 of 20 metaphases. 46,XY,del(13)(q12q14)[15]/46,XY[5].[mplnet.com]
  • For molecular cytogenetics fresh slides were used for FISH analysis using XL 5q31/5q33 locus-specific probe to see deletion in long arm of chromosome 5.[actamedicainternational.com]
  • Two were present on the short arm of chromosome 6 (chr6:2518736-10211449 and chr6:14337193-27405743), one on the long arm of chromosome 10 (chr10: 78337899-85795678) and one on the short arm of chromosome 16 (chr16: 115072-5794233).[hoajonline.com]
  • The breakpoints in the long arm of the chromosome 5 are variable but usually have been assigned to the 5q31-33 region, whereas the many partners of PDGFRB reside at various chromosomal loci.[ajcp.oxfordjournals.org]
Back Pain
  • Subsequently, the patient developed worsening of the back pain and lower extremity numbness. CBC at this time showed leukocytosis (9,900/µl) with absolute eosinophils of 3,000/µl.[jscimedcentral.com]
  • Case 90 was from a man who had severe back pain, splenomegaly, and bilateral pelvic lymphadenopathy. A fine-needle aspiration of the lymph node showed myeloid sarcoma.[ajcp.oxfordjournals.org]


Hypercellular Bone Marrow
  • (Wright Giemsa stained peripheral blood smear, original magnification 1000x) A markedly hypercellular bone marrow with myeloid hyperplasia including many eosinophils is appreciated.[atlasgeneticsoncology.org]


  • This issue of Emerging Cancer Therapeutics provides a comprehensive review for practitioners on the current status of leukemia treatment.[books.google.com]
  • 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]
  • View Figure 2 Figure 3: A) (pre-treatment): FISH using a dual-color ETV6 break-apart probe; B) (pre-treatment): FISH using a dual-color PDGFRB break-apart probe; C) (post-treatment): FISH using a dual-color PDGFRB break-apart probe, rearrangements is[clinmedjournals.org]
  • 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]
  • Conclusion We firstly demonstrated that therapy-related myeloid neoplasm with TRIP11-PDGFRB fusion was identified after treatment of APL.[molecularcytogenetics.biomedcentral.com]


  • 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]
  • Prognosis In a previously reported case-control study, the overall risk of thrombotic episodes in patients with ET was 6.6% per patient-year compared with 1.2% per patient-year in the control group. 12 A history of thrombosis (31.4% per patient-year)[oncohemakey.com]
  • […] 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]


  • Anemia Cardiac damage/failure Elevated white cell count Hepatomegaly Serum tryptase mild to moderately elevated Skin infiltration Splenomegaly Thrombocytopenia Diagnostic Exams Immunophenotyping Peripheral blood smear Progression and Transformation None Epidemiology[seer.cancer.gov]
  • […] mycobacterial diseases due to partial STAT1 deficiency Susceptibility to viral and mycobacterial infections Synonym(s): (no synonyms) Classification (Orphanet): - Rare hematologic disease - Rare oncologic disease Classification (ICD10): (no data available) Epidemiological[csbg.cnb.csic.es]
  • Epidemiology Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRB (as well as abnormalities of PDGFRA and FGFR1) are rare.[atlasgeneticsoncology.org]
Sex distribution
Age distribution


  • 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]


  • Diagnostic criteria for polycythemia vera (PV) are notably changed to lower the hemoglobin threshold and thus prevent underdiagnosis.[hematology.org]
  • […] modelling of the PDGFRβ TKD suggested that the residue in 3 position, R853, which differs from corresponding sites in all other RTKs of the PDGFR family, mediates a critical amino acid interaction stabilizing the A-loop in the active conformation, thereby preventing[ncbi.nlm.nih.gov]
  • . • 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]

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