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Mast cell leukemia

MedGen UID:
44123
•Concept ID:
C0023461
•
Neoplastic Process
Synonyms: Leukemia, Mast Cell; Leukemia, Mast-Cell; Leukemias, Mast-Cell; Mast Cell Leukemia; Mast-Cell Leukemia; Mast-Cell Leukemias
SNOMED CT: Mast cell leukemia (clinical) (110002002); Mast cell leukemia (128924002); Mast cell leukemia (110002002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0020334
OMIM®: 154800
Orphanet: ORPHA98851

Definition

A very rare malignant systemic mastocytosis (SM) characterized by a huge infiltration of bone marrow, and often of blood, by abnormal mast cells (MC) which frequently manifests with organ dysfunction (liver, spleen, peritoneum, bones, and marrow). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMast cell leukemia
Follow this link to review classifications for Mast cell leukemia in Orphanet.

Professional guidelines

PubMed

Mast cell cytomorphology and treatment outcome in mast cell leukemia.
Tefferi A, Pardanani A, Al-Kali A, Alkhateeb H, McCullough K, Patnaik M, Hogan WJ, Begna K, Elliott MA, Khera N, Palmer JM, Gangat N, Kelemen K, Orazi A, Chen D, Reichard KK
Am J Hematol 2024 Jan;99(1):E5-E8. Epub 2023 Sep 21 doi: 10.1002/ajh.27105. PMID: 37732882
Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
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

Etiology

Antibody-Based and Cell Therapies for Advanced Mastocytosis: Established and Novel Concepts.
Valent P, Akin C, Arock M, Gleixner KV, Greinix H, Hermine O, Horny HP, Ivanov D, Orfao A, Rabitsch W, Reiter A, Schulenburg A, Sotlar K, Sperr WR, Ustun C
Int J Mol Sci 2023 Oct 12;24(20) doi: 10.3390/ijms242015125. PMID: 37894806Free PMC Article
Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Pharmacotherapy in Mast Cell Leukemia.
Laforgia M, Calabrò C, Scattone A, Laface C, Porcelli M, Gadaleta CD, Nardulli P, Ranieri G
Expert Opin Pharmacother 2020 Jun;21(9):1059-1069. Epub 2020 Mar 25 doi: 10.1080/14656566.2020.1744566. PMID: 32208985
New Insights into Clonal Mast Cell Disorders Including Mastocytosis.
Volertas S, Schuler CF 4th, Akin C
Immunol Allergy Clin North Am 2018 Aug;38(3):341-350. Epub 2018 Jun 9 doi: 10.1016/j.iac.2018.04.014. PMID: 30007455

Diagnosis

Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
The international consensus classification of mastocytosis and related entities.
Leguit RJ, Wang SA, George TI, Tzankov A, Orazi A
Virchows Arch 2023 Jan;482(1):99-112. Epub 2022 Oct 10 doi: 10.1007/s00428-022-03423-3. PMID: 36214901
Mast Cell Leukemia in a Patient with Teratoma.
Shen Y, Wang Z, Lin H, Liu J
Turk J Haematol 2022 Jun 1;39(2):142-143. Epub 2022 Feb 25 doi: 10.4274/tjh.galenos.2022.2021.0530. PMID: 35209711Free PMC Article
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Mast cell leukemia.
Georgin-Lavialle S, Lhermitte L, Dubreuil P, Chandesris MO, Hermine O, Damaj G
Blood 2013 Feb 21;121(8):1285-95. Epub 2012 Dec 14 doi: 10.1182/blood-2012-07-442400. PMID: 23243287

Therapy

Avapritinib for Systemic Mastocytosis.
Bose P, Verstovsek S
Expert Rev Hematol 2021 Aug;14(8):687-696. Epub 2021 Aug 6 doi: 10.1080/17474086.2021.1959315. PMID: 34289787
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Midostaurin: a magic bullet that blocks mast cell expansion and activation.
Valent P, Akin C, Hartmann K, George TI, Sotlar K, Peter B, Gleixner KV, Blatt K, Sperr WR, Manley PW, Hermine O, Kluin-Nelemans HC, Arock M, Horny HP, Reiter A, Gotlib J
Ann Oncol 2017 Oct 1;28(10):2367-2376. doi: 10.1093/annonc/mdx290. PMID: 28945834Free PMC Article
Mast cell leukemia: an extremely rare disease.
Lu DY, Gau JP, Hong YC, Liu CY, Yu YB, Hsiao LT, Liu JH, Chen PM, Chiou TJ, Tzeng CH
J Chin Med Assoc 2014 Aug;77(8):446-9. Epub 2014 Jul 12 doi: 10.1016/j.jcma.2014.05.004. PMID: 25028296
C-KIT signaling in cancer treatment.
Stankov K, Popovic S, Mikov M
Curr Pharm Des 2014;20(17):2849-80. doi: 10.2174/13816128113199990593. PMID: 23944364

Prognosis

Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
New Insights into Clonal Mast Cell Disorders Including Mastocytosis.
Volertas S, Schuler CF 4th, Akin C
Immunol Allergy Clin North Am 2018 Aug;38(3):341-350. Epub 2018 Jun 9 doi: 10.1016/j.iac.2018.04.014. PMID: 30007455
Aleukemic variant of mast cell leukemia.
Zeerleder S, van Oers M
Blood 2012 Mar 1;119(9):1961. doi: 10.1182/blood-2011-04-344952. PMID: 22482127
Myelomastocytic leukemia versus mast cell leukemia versus systemic mastocytosis associated with acute myeloid leukemia: a diagnostic challenge.
Arredondo AR, Gotlib J, Shier L, Medeiros B, Wong K, Cherry A, Corless C, Arber DA, Valent P, George TI
Am J Hematol 2010 Aug;85(8):600-6. doi: 10.1002/ajh.21713. PMID: 20658589

Clinical prediction guides

Allogeneic Hematopoietic Cell Transplantation in Advanced Systemic Mastocytosis: A retrospective analysis of the DRST and GREM registries.
Lübke J, Christen D, Schwaab J, Kaiser A, Naumann N, Shoumariyeh K, Jentzsch M, Sockel K, Schaffrath J, Ayuk FA, Stelljes M, Hilgendorf I, Sala E, Kaivers J, Schönland S, Wittke C, Hertenstein B, Radsak M, Kaiser U, Brückl V, Kröger N, Brümmendorf TH, Hofmann WK, Klein S, Jost E, Reiter A, Panse J
Leukemia 2024 Apr;38(4):810-821. Epub 2024 Mar 6 doi: 10.1038/s41375-024-02186-x. PMID: 38448757Free PMC Article
MITF Downregulation Induces Death in Human Mast Cell Leukemia Cells and Impairs IgE-Dependent Degranulation.
Proaño-Pérez E, Ollé L, Guo Y, Aparicio C, Guerrero M, Muñoz-Cano R, Martin M
Int J Mol Sci 2023 Feb 9;24(4) doi: 10.3390/ijms24043515. PMID: 36834926Free PMC Article
Avapritinib for Systemic Mastocytosis.
Bose P, Verstovsek S
Expert Rev Hematol 2021 Aug;14(8):687-696. Epub 2021 Aug 6 doi: 10.1080/17474086.2021.1959315. PMID: 34289787
The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm.
Jawhar M, Schwaab J, Meggendorfer M, Naumann N, Horny HP, Sotlar K, Haferlach T, Schmitt K, Fabarius A, Valent P, Hofmann WK, Cross NCP, Metzgeroth G, Reiter A
Haematologica 2017 Jun;102(6):1035-1043. Epub 2017 Mar 2 doi: 10.3324/haematol.2017.163964. PMID: 28255023Free PMC Article
C-KIT signaling in cancer treatment.
Stankov K, Popovic S, Mikov M
Curr Pharm Des 2014;20(17):2849-80. doi: 10.2174/13816128113199990593. PMID: 23944364

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