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Smouldering systemic mastocytosis

MedGen UID:
856636
Concept ID:
C3897042
Neoplastic Process
Synonyms: Smoldering Systemic Mastocytosis; Smoldering systemic mastocytosis; SSM - smoldering systemic mastocytosis
SNOMED CT: Smoldering systemic mastocytosis (1231732006); Smouldering systemic mastocytosis (1231733001); Smoldering systemic mastocytosis (1231733001); SSM - smoldering systemic mastocytosis (1231732006)
 
Monarch Initiative: MONDO:0015557
Orphanet: ORPHA158775

Definition

A rare slowly progressive form of systemic mastocytosis (SM) with characteristics of gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and in most cases urticaria pigmentosa-like skin lesions. Although the aetiology is not fully understood, an activating mutation of KIT, usually KIT D816V, is found in the mast cells of virtually all cases. This mutation probably accounts for the abnormal accumulation of mast cells in organs/tissues. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSmouldering systemic mastocytosis

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
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Pardanani A
Am J Hematol 2019 Mar;94(3):363-377. Epub 2019 Jan 2 doi: 10.1002/ajh.25371. PMID: 30536695

Recent clinical studies

Etiology

Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Pardanani A
Am J Hematol 2019 Mar;94(3):363-377. Epub 2019 Jan 2 doi: 10.1002/ajh.25371. PMID: 30536695
Valent P, Akin C, Sperr WR, Horny HP, Metcalfe DD
Int Arch Allergy Immunol 2002 Feb;127(2):137-9. doi: 10.1159/000048185. PMID: 11919424

Diagnosis

Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
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
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Pardanani A
Am J Hematol 2019 Mar;94(3):363-377. Epub 2019 Jan 2 doi: 10.1002/ajh.25371. PMID: 30536695

Therapy

Tefferi A, Kittur J, Farrukh F, Begna KH, Patnaik MM, Al-Kali A, Elliott MA, Reichard KK, Gangat N, Pardanani A
Br J Haematol 2022 Feb;196(4):975-983. Epub 2021 Nov 3 doi: 10.1111/bjh.17932. PMID: 34729775
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
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Pardanani A
Am J Hematol 2019 Mar;94(3):363-377. Epub 2019 Jan 2 doi: 10.1002/ajh.25371. PMID: 30536695
Pardanani A, Tefferi A
Curr Opin Hematol 2010 Mar;17(2):125-32. doi: 10.1097/MOH.0b013e3283366c59. PMID: 20075725

Prognosis

Pardanani A
Am J Hematol 2023 Jul;98(7):1097-1116. Epub 2023 May 22 doi: 10.1002/ajh.26962. PMID: 37309222
Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
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
Pardanani A
Am J Hematol 2021 Apr 1;96(4):508-525. Epub 2021 Feb 21 doi: 10.1002/ajh.26118. PMID: 33524167
Pardanani A
Am J Hematol 2019 Mar;94(3):363-377. Epub 2019 Jan 2 doi: 10.1002/ajh.25371. PMID: 30536695

Clinical prediction guides

Tiryaki TO, Özkan SG, Erdem S, Aday AD, Hindilerden İY, Gelincik A, Baykal C, Yegen G, Doğan İÖ, Büyükbabani N, Nalçacı M, Yavuz AS
BMC Cancer 2023 Jan 24;23(1):82. doi: 10.1186/s12885-022-10498-3. PMID: 36694141Free PMC Article
Henriques A, Muñoz-González JI, Sánchez-Muñoz L, Matito A, Torres-Rivera L, Jara-Acevedo M, Caldas C, Mayado A, Pérez-Pons A, García-Montero AC, Álvarez-Twose I, Orfao A
Blood 2022 Jan 27;139(4):572-583. doi: 10.1182/blood.2021012694. PMID: 34496018
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
Trizuljak J, Sperr WR, Nekvindová L, Elberink HO, Gleixner KV, Gorska A, Lange M, Hartmann K, Illerhaus A, Bonifacio M, Perkins C, Elena C, Malcovati L, Fortina AB, Shoumariyeh K, Jawhar M, Zanotti R, Bonadonna P, Caroppo F, Zink A, Triggiani M, Parente R, von Bubnoff N, Yavuz AS, Hägglund H, Mattsson M, Panse J, Jäkel N, Kilbertus A, Hermine O, Arock M, Fuchs D, Sabato V, Brockow K, Bretterklieber A, Niedoszytko M, van Anrooij B, Reiter A, Gotlib J, Kluin-Nelemans HC, Mayer J, Doubek M, Valent P
Allergy 2020 Aug;75(8):1927-1938. Epub 2020 Mar 16 doi: 10.1111/all.14248. PMID: 32108361Free PMC Article
Hatch EW, Geeze MB, Martin C, Salama ME, Hartmann K, Eisenwort G, Blatt K, Valent P, Gotlib J, Lee JH, Chen L, Ward HH, Lidke DS, George TI
Blood Adv 2018 Feb 13;2(3):189-199. doi: 10.1182/bloodadvances.2017011551. PMID: 29378725Free PMC Article

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