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Myeloproliferative disorder, chronic, with eosinophilia(EMP)

MedGen UID:
377060
Concept ID:
C1851585
Disease or Syndrome
Synonyms: EOSINOPHILS, MALIGNANT PROLIFERATION OF; Malignant eosinophil proliferation
 
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.
Myeloproliferative disorder, chronic, with eosinophilia
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  
  • CROGVMyeloproliferative disorder, chronic, with eosinophilia

Conditions with this feature

Myeloproliferative disorder, chronic, with eosinophilia
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.

Recent clinical studies

Etiology

Hekimoglu H, Demirtas EN, Sozer S
In Vivo 2023 Jul-Aug;37(4):1680-1687. doi: 10.21873/invivo.13254. PMID: 37369465Free PMC Article
Snider JS, Znoyko I, Lindsey KG, Morse J, Baughn LB, Hoppman NL, Pitel BA, Pearce KE, Schandl CA, Wolff DJ
Cancer Genet 2020 Aug;246-247:44-47. Epub 2020 Aug 7 doi: 10.1016/j.cancergen.2020.08.004. PMID: 32827877

Diagnosis

Snider JS, Znoyko I, Lindsey KG, Morse J, Baughn LB, Hoppman NL, Pitel BA, Pearce KE, Schandl CA, Wolff DJ
Cancer Genet 2020 Aug;246-247:44-47. Epub 2020 Aug 7 doi: 10.1016/j.cancergen.2020.08.004. PMID: 32827877
Sarthy JF, Reddivalla N, Radhi M, Chastain K
Pediatr Blood Cancer 2017 May;64(5) Epub 2016 Nov 3 doi: 10.1002/pbc.26310. PMID: 27808462
Alrwas A, Quesada JR, Marcos LA, Mehta SS, Shattuck BL, Nguyen ND, Juneja HS
Cancer Genet 2012 Oct;205(10):519-22. Epub 2012 Sep 1 doi: 10.1016/j.cancergen.2012.05.010. PMID: 22944561

Therapy

Sarthy JF, Reddivalla N, Radhi M, Chastain K
Pediatr Blood Cancer 2017 May;64(5) Epub 2016 Nov 3 doi: 10.1002/pbc.26310. PMID: 27808462
Naumann N, Schwaab J, Metzgeroth G, Jawhar M, Haferlach C, Göhring G, Schlegelberger B, Dietz CT, Schnittger S, Lotfi S, Gärtner M, Dang TA, Hofmann WK, Cross NC, Reiter A, Fabarius A
Genes Chromosomes Cancer 2015 Dec;54(12):762-70. Epub 2015 Sep 10 doi: 10.1002/gcc.22287. PMID: 26355392
Alrwas A, Quesada JR, Marcos LA, Mehta SS, Shattuck BL, Nguyen ND, Juneja HS
Cancer Genet 2012 Oct;205(10):519-22. Epub 2012 Sep 1 doi: 10.1016/j.cancergen.2012.05.010. PMID: 22944561

Prognosis

Cha YJ, Koo JS
Int J Mol Sci 2023 Aug 21;24(16) doi: 10.3390/ijms241613016. PMID: 37629198Free PMC Article
Snider JS, Znoyko I, Lindsey KG, Morse J, Baughn LB, Hoppman NL, Pitel BA, Pearce KE, Schandl CA, Wolff DJ
Cancer Genet 2020 Aug;246-247:44-47. Epub 2020 Aug 7 doi: 10.1016/j.cancergen.2020.08.004. PMID: 32827877
Naumann N, Schwaab J, Metzgeroth G, Jawhar M, Haferlach C, Göhring G, Schlegelberger B, Dietz CT, Schnittger S, Lotfi S, Gärtner M, Dang TA, Hofmann WK, Cross NC, Reiter A, Fabarius A
Genes Chromosomes Cancer 2015 Dec;54(12):762-70. Epub 2015 Sep 10 doi: 10.1002/gcc.22287. PMID: 26355392

Clinical prediction guides

Cha YJ, Koo JS
Int J Mol Sci 2023 Aug 21;24(16) doi: 10.3390/ijms241613016. PMID: 37629198Free PMC Article
Naumann N, Schwaab J, Metzgeroth G, Jawhar M, Haferlach C, Göhring G, Schlegelberger B, Dietz CT, Schnittger S, Lotfi S, Gärtner M, Dang TA, Hofmann WK, Cross NC, Reiter A, Fabarius A
Genes Chromosomes Cancer 2015 Dec;54(12):762-70. Epub 2015 Sep 10 doi: 10.1002/gcc.22287. PMID: 26355392

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