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Acute mast cell leukemia

MedGen UID:
1843106
Concept ID:
C5680128
Neoplastic Process
Synonyms: acute mast cell leukemia; Acute MCL
 
Monarch Initiative: MONDO:0035444
Orphanet: ORPHA566393

Definition

A rare systemic mastocytosis characterized by the presence of at least 20% usually immature and atypical mast cells in bone marrow aspirate smears. In classic mast cell leukemia, mast cells account for at least 10% of peripheral white blood cells, although the aleukemic variant with less than 10% mast cells is more common. C-findings (cytopenias, hepatomegaly, ascites, portal hypertension, splenomegaly, skeletal lesions, malabsorption), indicative of organ damage due to mast cell infiltration, are usually present at diagnosis, while skin lesions are absent in most cases. Prognosis is generally poor. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcute mast cell leukemia

Professional guidelines

PubMed

Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
Valent P, Hartmann K, Schwaab J, Alvarez-Twose I, Brockow K, Bonadonna P, Hermine O, Niedoszytko M, Carter MC, Hoermann G, Sperr WR, Butterfield JH, Ustun C, Zanotti R, Radia DH, Castells M, Triggiani M, Schwartz LB, Orfao A, George TI, Sotlar K, Gotlib J, Reiter A, Horny HP, Arock M, Akin C, Metcalfe DD
J Allergy Clin Immunol Pract 2022 Aug;10(8):1999-2012.e6. Epub 2022 Mar 25 doi: 10.1016/j.jaip.2022.03.007. PMID: 35342031
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167

Recent clinical studies

Diagnosis

Zaremba-Pataj E, Patkowska E, Krzywdzińska A, Szumera-Ciećkiewicz A, Chlebowska-Tuz J
J Hematop 2023 Mar;16(1):39-47. Epub 2023 Jan 20 doi: 10.1007/s12308-022-00526-3. PMID: 38175371
Costopoulos M, Uzunov M, Bories D, Charlotte F, Maloum K, Arock M
Diagn Cytopathol 2018 Jul;46(7):639-641. Epub 2018 May 7 doi: 10.1002/dc.23965. PMID: 29736992
Wang RC, Ward D, Dunn P, Chang CC
Hum Pathol 2017 Sep;67:198-204. Epub 2017 Apr 13 doi: 10.1016/j.humpath.2017.03.014. PMID: 28412213

Therapy

Costopoulos M, Uzunov M, Bories D, Charlotte F, Maloum K, Arock M
Diagn Cytopathol 2018 Jul;46(7):639-641. Epub 2018 May 7 doi: 10.1002/dc.23965. PMID: 29736992
Wang RC, Ward D, Dunn P, Chang CC
Hum Pathol 2017 Sep;67:198-204. Epub 2017 Apr 13 doi: 10.1016/j.humpath.2017.03.014. PMID: 28412213

Prognosis

Zaremba-Pataj E, Patkowska E, Krzywdzińska A, Szumera-Ciećkiewicz A, Chlebowska-Tuz J
J Hematop 2023 Mar;16(1):39-47. Epub 2023 Jan 20 doi: 10.1007/s12308-022-00526-3. PMID: 38175371
Costopoulos M, Uzunov M, Bories D, Charlotte F, Maloum K, Arock M
Diagn Cytopathol 2018 Jul;46(7):639-641. Epub 2018 May 7 doi: 10.1002/dc.23965. PMID: 29736992
Wang RC, Ward D, Dunn P, Chang CC
Hum Pathol 2017 Sep;67:198-204. Epub 2017 Apr 13 doi: 10.1016/j.humpath.2017.03.014. PMID: 28412213

Supplemental Content

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