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Mast cell neoplasm

MedGen UID:
83178
•Concept ID:
C0334664
•
Neoplastic Process
Synonyms: Mast Cell Neoplasm; mast cell neoplasm; Mast Cell Proliferative Disease; Mast cell proliferative disease; Mast cell tumor; Mast Cell Tumor; mast cell tumor; mast cell tumour; Mast cell tumour; Neoplasm of Mast Cells; neoplasm of Mast cells; Neoplasm of the Mast Cells; neoplasm of the Mast cells; Tumor of Mast Cells; tumor of Mast cells; Tumor of the Mast Cells; tumor of the Mast cells; tumour of Mast cells; tumour of the Mast cells
SNOMED CT: Mast cell tumor (89796001); Mast cell neoplasm (414653009); Mast cell neoplasm (127581004)
 
Monarch Initiative: MONDO:0002724

Definition

A heterogeneous group of disorders characterized by the abnormal growth and accumulation of mast cells in one or more organ systems. Recent data suggest that most variants of mast cell neoplasms are clonal disorders. (WHO, 2001) [from NCI]

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: 2023 update on diagnosis and management in adults.
Costa A, Scalzulli E, Carmosino I, Capriata M, Ielo C, Masucci C, Passucci M, Martelli M, Breccia M
Expert Opin Emerg Drugs 2023 Dec;28(3):153-165. Epub 2023 Jun 6 doi: 10.1080/14728214.2023.2221028. PMID: 37256917
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

Mast cell neoplasm: a challenging pathological diagnosis.
Natal RA, Carneiro HC, de Carvalho Barra FF, Pagnano KBB, Soares FA, Vassallo J
Hum Pathol 2022 Aug;126:55-62. Epub 2022 May 10 doi: 10.1016/j.humpath.2022.05.007. PMID: 35550832
Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) in a phase 2 clinical study.
Padilla B, Shields AL, Taylor F, Li X, Mcdonald J, Green T, Boral AL, Lin HM, Akin C, Siebenhaar F, Mar B
Orphanet J Rare Dis 2021 Oct 18;16(1):434. doi: 10.1186/s13023-021-02037-3. PMID: 34663404Free PMC Article
Clinical and histopathological features of myeloid neoplasms with concurrent Janus kinase 2 (JAK2) V617F and KIT proto-oncogene, receptor tyrosine kinase (KIT) D816V mutations.
Naumann N, Lübke J, Shomali W, Reiter L, Horny HP, Jawhar M, Dangelo V, Fabarius A, Metzgeroth G, Kreil S, Sotlar K, Oni C, Harrison C, Hofmann WK, Cross NCP, Valent P, Radia D, Gotlib J, Reiter A, Schwaab J
Br J Haematol 2021 Jul;194(2):344-354. Epub 2021 Jun 1 doi: 10.1111/bjh.17567. PMID: 34060083
Recent advances in mastocytosis research. Summary of the Vienna Mastocytosis Meeting 1998.
Valent P, Escribano L, Parwaresch RM, Schemmel V, Schwartz LB, Sotlar K, Sperr WR, Horny HP
Int Arch Allergy Immunol 1999 Sep;120(1):1-7. doi: 10.1159/000024214. PMID: 10529583

Diagnosis

Mast cell neoplasm: a challenging pathological diagnosis.
Natal RA, Carneiro HC, de Carvalho Barra FF, Pagnano KBB, Soares FA, Vassallo J
Hum Pathol 2022 Aug;126:55-62. Epub 2022 May 10 doi: 10.1016/j.humpath.2022.05.007. PMID: 35550832
Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) in a phase 2 clinical study.
Padilla B, Shields AL, Taylor F, Li X, Mcdonald J, Green T, Boral AL, Lin HM, Akin C, Siebenhaar F, Mar B
Orphanet J Rare Dis 2021 Oct 18;16(1):434. doi: 10.1186/s13023-021-02037-3. PMID: 34663404Free PMC Article
Comparative oncology: The paradigmatic example of canine and human mast cell neoplasms.
Willmann M, Hadzijusufovic E, Hermine O, Dacasto M, Marconato L, Bauer K, Peter B, Gamperl S, Eisenwort G, Jensen-Jarolim E, Müller M, Arock M, Vail DM, Valent P
Vet Comp Oncol 2019 Mar;17(1):1-10. Epub 2018 Sep 24 doi: 10.1111/vco.12440. PMID: 30136349Free PMC Article
Recent advances in mastocytosis research. Summary of the Vienna Mastocytosis Meeting 1998.
Valent P, Escribano L, Parwaresch RM, Schemmel V, Schwartz LB, Sotlar K, Sperr WR, Horny HP
Int Arch Allergy Immunol 1999 Sep;120(1):1-7. doi: 10.1159/000024214. PMID: 10529583

Therapy

Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) in a phase 2 clinical study.
Padilla B, Shields AL, Taylor F, Li X, Mcdonald J, Green T, Boral AL, Lin HM, Akin C, Siebenhaar F, Mar B
Orphanet J Rare Dis 2021 Oct 18;16(1):434. doi: 10.1186/s13023-021-02037-3. PMID: 34663404Free PMC Article
Comparative oncology: The paradigmatic example of canine and human mast cell neoplasms.
Willmann M, Hadzijusufovic E, Hermine O, Dacasto M, Marconato L, Bauer K, Peter B, Gamperl S, Eisenwort G, Jensen-Jarolim E, Müller M, Arock M, Vail DM, Valent P
Vet Comp Oncol 2019 Mar;17(1):1-10. Epub 2018 Sep 24 doi: 10.1111/vco.12440. PMID: 30136349Free PMC Article
Treatment responses to cladribine and dasatinib in rapidly progressing aggressive mastocytosis.
Aichberger KJ, Sperr WR, Gleixner KV, Kretschmer A, Valent P
Eur J Clin Invest 2008 Nov;38(11):869-73. doi: 10.1111/j.1365-2362.2008.02036.x. PMID: 19021706
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation.
Nakagomi N, Hirota S
Lab Invest 2007 Apr;87(4):365-71. Epub 2007 Jan 29 doi: 10.1038/labinvest.3700524. PMID: 17259998

Prognosis

Mast cell neoplasm: a challenging pathological diagnosis.
Natal RA, Carneiro HC, de Carvalho Barra FF, Pagnano KBB, Soares FA, Vassallo J
Hum Pathol 2022 Aug;126:55-62. Epub 2022 May 10 doi: 10.1016/j.humpath.2022.05.007. PMID: 35550832
Clinical and histopathological features of myeloid neoplasms with concurrent Janus kinase 2 (JAK2) V617F and KIT proto-oncogene, receptor tyrosine kinase (KIT) D816V mutations.
Naumann N, Lübke J, Shomali W, Reiter L, Horny HP, Jawhar M, Dangelo V, Fabarius A, Metzgeroth G, Kreil S, Sotlar K, Oni C, Harrison C, Hofmann WK, Cross NCP, Valent P, Radia D, Gotlib J, Reiter A, Schwaab J
Br J Haematol 2021 Jul;194(2):344-354. Epub 2021 Jun 1 doi: 10.1111/bjh.17567. PMID: 34060083
The upregulation of Pim kinases is essential in coordinating the survival, proliferation, and migration of KIT D816V-mutated neoplastic mast cells.
Park H, Kim D, Koh Y, Yoon SS
Leuk Res 2019 Aug;83:106166. Epub 2019 Jun 12 doi: 10.1016/j.leukres.2019.106166. PMID: 31203104
Comparative oncology: The paradigmatic example of canine and human mast cell neoplasms.
Willmann M, Hadzijusufovic E, Hermine O, Dacasto M, Marconato L, Bauer K, Peter B, Gamperl S, Eisenwort G, Jensen-Jarolim E, Müller M, Arock M, Vail DM, Valent P
Vet Comp Oncol 2019 Mar;17(1):1-10. Epub 2018 Sep 24 doi: 10.1111/vco.12440. PMID: 30136349Free PMC Article
Recent advances in mastocytosis research. Summary of the Vienna Mastocytosis Meeting 1998.
Valent P, Escribano L, Parwaresch RM, Schemmel V, Schwartz LB, Sotlar K, Sperr WR, Horny HP
Int Arch Allergy Immunol 1999 Sep;120(1):1-7. doi: 10.1159/000024214. PMID: 10529583

Clinical prediction guides

Psychometric evaluation of the Indolent Systemic Mastocytosis Symptom Assessment Form (ISM-SAF) in a phase 2 clinical study.
Padilla B, Shields AL, Taylor F, Li X, Mcdonald J, Green T, Boral AL, Lin HM, Akin C, Siebenhaar F, Mar B
Orphanet J Rare Dis 2021 Oct 18;16(1):434. doi: 10.1186/s13023-021-02037-3. PMID: 34663404Free PMC Article
The upregulation of Pim kinases is essential in coordinating the survival, proliferation, and migration of KIT D816V-mutated neoplastic mast cells.
Park H, Kim D, Koh Y, Yoon SS
Leuk Res 2019 Aug;83:106166. Epub 2019 Jun 12 doi: 10.1016/j.leukres.2019.106166. PMID: 31203104
The identification and characterisation of novel KIT transcripts in aggressive mast cell malignancies and normal CD34+ cells.
Ozer O, Zhao YD, Ostler KR, Akin C, Anastasi J, Vardiman JW, Godley LA
Leuk Lymphoma 2008 Aug;49(8):1567-77. doi: 10.1080/10428190802140865. PMID: 18766971
Juxtamembrane-type c-kit gene mutation found in aggressive systemic mastocytosis induces imatinib-resistant constitutive KIT activation.
Nakagomi N, Hirota S
Lab Invest 2007 Apr;87(4):365-71. Epub 2007 Jan 29 doi: 10.1038/labinvest.3700524. PMID: 17259998

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