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Malignant eosinophil proliferation(EMP)

MedGen UID:
377060
Concept ID:
C1851585
Disease or Syndrome
Synonyms: EOSINOPHILS, MALIGNANT PROLIFERATION OF; Myeloproliferative disorder, chronic, with eosinophilia
 
Gene (location): PDGFRB (5q32)
 
HPO: HP:0006782
Monarch Initiative: MONDO:0007546
OMIM®: 131440

Definition

PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRB-associated chronic eosinophilic leukemia. Some people with this condition have an increased number of other types of white blood cells, such as neutrophils or mast cells, in addition to eosinophils. People with this condition can have an enlarged spleen (splenomegaly) or enlarged liver (hepatomegaly). Some affected individuals develop skin rashes, likely as a result of an abnormal immune response due to the increased number of eosinophils. [from MedlinePlus Genetics]

Clinical features

From HPO
Myeloproliferative disorder
MedGen UID:
10147
Concept ID:
C0027022
Neoplastic Process
Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential.
Malignant eosinophil proliferation
MedGen UID:
377060
Concept ID:
C1851585
Disease or Syndrome
PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRB-associated chronic eosinophilic leukemia. Some people with this condition have an increased number of other types of white blood cells, such as neutrophils or mast cells, in addition to eosinophils. People with this condition can have an enlarged spleen (splenomegaly) or enlarged liver (hepatomegaly). Some affected individuals develop skin rashes, likely as a result of an abnormal immune response due to the increased number of eosinophils.
Eosinophilia
MedGen UID:
41824
Concept ID:
C0014457
Disease or Syndrome
Increased count of eosinophils in the blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMalignant eosinophil proliferation

Conditions with this feature

Malignant eosinophil proliferation
MedGen UID:
377060
Concept ID:
C1851585
Disease or Syndrome
PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRB-associated chronic eosinophilic leukemia. Some people with this condition have an increased number of other types of white blood cells, such as neutrophils or mast cells, in addition to eosinophils. People with this condition can have an enlarged spleen (splenomegaly) or enlarged liver (hepatomegaly). Some affected individuals develop skin rashes, likely as a result of an abnormal immune response due to the increased number of eosinophils.

Professional guidelines

PubMed

Gowhari Shabgah A, Amir A, Gardanova ZR, Olegovna Zekiy A, Thangavelu L, Ebrahimi Nik M, Ahmadi M, Gholizadeh Navashenaq J
Cancer Med 2021 Aug;10(15):5191-5202. Epub 2021 Jun 15 doi: 10.1002/cam4.4060. PMID: 34128588Free PMC Article
Molderings GJ, Haenisch B, Brettner S, Homann J, Menzen M, Dumoulin FL, Panse J, Butterfield J, Afrin LB
Naunyn Schmiedebergs Arch Pharmacol 2016 Jul;389(7):671-94. Epub 2016 Apr 30 doi: 10.1007/s00210-016-1247-1. PMID: 27132234Free PMC Article
Young RH, Clement PB
Histopathology 2002 Sep;41(3):185-207. doi: 10.1046/j.1365-2559.2002.01462.x. PMID: 12207781

Recent clinical studies

Diagnosis

Venable ER, Gagnon MF, Pitel BA, Palmer JM, Peterson JF, Baughn LB, Hoppman NL, Greipp PT, Ketterling RP, Patnaik MS, Kelemen K, Xu X
Cold Spring Harb Mol Case Stud 2023 Feb;9(1) Epub 2023 Mar 24 doi: 10.1101/mcs.a006243. PMID: 36627146Free PMC Article

Prognosis

Venable ER, Gagnon MF, Pitel BA, Palmer JM, Peterson JF, Baughn LB, Hoppman NL, Greipp PT, Ketterling RP, Patnaik MS, Kelemen K, Xu X
Cold Spring Harb Mol Case Stud 2023 Feb;9(1) Epub 2023 Mar 24 doi: 10.1101/mcs.a006243. PMID: 36627146Free PMC Article

Supplemental Content

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