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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

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
Myelomastocytic leukemia: histopathological features, diagnostic criteria and differential diagnosis.
Horny HP, Sotlar K, Reiter A, Valent P
Expert Rev Hematol 2014 Aug;7(4):431-7. doi: 10.1586/17474086.2014.942280. PMID: 25025369

Recent clinical studies

Etiology

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
The Spectrum of Aggressive Mastocytosis: A Workshop Report and Literature Review.
Leguit R, Hebeda K, Kremer M, van der Walt J, Gianelli U, Tzankov A, Orazi A
Pathobiology 2020;87(1):2-19. Epub 2019 Dec 4 doi: 10.1159/000504099. PMID: 31802761Free PMC Article
A phase 2 study of brentuximab vedotin in patients with CD30-positive advanced systemic mastocytosis.
Gotlib J, Baird JH, George TI, Langford C, Reyes I, Abuel J, Perkins C, Schroeder K, Bose P, Verstovsek S
Blood Adv 2019 Aug 13;3(15):2264-2271. doi: 10.1182/bloodadvances.2019000152. PMID: 31350306Free PMC Article
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
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
The Spectrum of Aggressive Mastocytosis: A Workshop Report and Literature Review.
Leguit R, Hebeda K, Kremer M, van der Walt J, Gianelli U, Tzankov A, Orazi A
Pathobiology 2020;87(1):2-19. Epub 2019 Dec 4 doi: 10.1159/000504099. PMID: 31802761Free PMC Article
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

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
A phase 2 study of brentuximab vedotin in patients with CD30-positive advanced systemic mastocytosis.
Gotlib J, Baird JH, George TI, Langford C, Reyes I, Abuel J, Perkins C, Schroeder K, Bose P, Verstovsek S
Blood Adv 2019 Aug 13;3(15):2264-2271. doi: 10.1182/bloodadvances.2019000152. PMID: 31350306Free PMC Article
Myelomastocytic leukemia with aberrant CD25 expression: case report and review of the literature.
Rich A, Sun J, Aldayel AS, Yin CC, Medeiros LJ, Konoplev S
Clin Lymphoma Myeloma Leuk 2014 Oct;14(5):e173-7. Epub 2014 Jun 10 doi: 10.1016/j.clml.2014.06.003. PMID: 25022599
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
Myelomastocytic leukemia with aberrant CD25 expression: case report and review of the literature.
Rich A, Sun J, Aldayel AS, Yin CC, Medeiros LJ, Konoplev S
Clin Lymphoma Myeloma Leuk 2014 Oct;14(5):e173-7. Epub 2014 Jun 10 doi: 10.1016/j.clml.2014.06.003. PMID: 25022599
Systemic mastocytosis.
Ozdemir D, Dagdelen S, Erbas T
Am J Med Sci 2011 Nov;342(5):409-15. doi: 10.1097/MAJ.0b013e3182121131. PMID: 21629042

Clinical prediction guides

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
A phase 2 study of brentuximab vedotin in patients with CD30-positive advanced systemic mastocytosis.
Gotlib J, Baird JH, George TI, Langford C, Reyes I, Abuel J, Perkins C, Schroeder K, Bose P, Verstovsek S
Blood Adv 2019 Aug 13;3(15):2264-2271. doi: 10.1182/bloodadvances.2019000152. PMID: 31350306Free PMC Article
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

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
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      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
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