Systemic Mastocytosis: Advances in Diagnosis and Current Management.
Journal
Cancer treatment and research
ISSN: 0927-3042
Titre abrégé: Cancer Treat Res
Pays: United States
ID NLM: 8008541
Informations de publication
Date de publication:
2021
2021
Historique:
entrez:
9
10
2021
pubmed:
10
10
2021
medline:
26
11
2021
Statut:
ppublish
Résumé
Mastocytosis is a rare hematologic disorder characterized by abnormal proliferation and accumulation of neoplastic mast cells in various body sites. Isolated skin involvement is termed cutaneous mastocytosis (CM) and the term systemic mastocytosis (SM) refers to multi-organ involvement, most commonly of the bone marrow, skin, liver, and spleen. A subset of patients with SM have an associated clonal hematologic neoplasm which is most commonly myelodysplastic syndrome, chronic myelomonocytic leukemia, or acute myelogenous leukemia and this entity is termed SM with associated hematological neoplasm (AHN). Bone marrow involvement is present in all patients regardless of the subtype of SM. The genetic hallmark of SM is a somatic gain-of-function point mutation within the KIT gene. Other molecular aberrations that have been reported include somatic mutations in TET2, SRSF2, ASXL1, CBL, RUNX1, and RAS and these are common in SM-AHN. The clinical presentation of SM can range from indolent to advanced depending on extent of mast cell burden and genetic profile. In the case of indolent SM, the goal of treatment is to control mediator release-related effects as well as to reduce mast cell burden. In the case of SM-AHN, therapy is primarily that of the AHN and allogeneic hematopoietic stem cell transplantation is the preferred therapy in suitable candidates.
Identifiants
pubmed: 34626361
doi: 10.1007/978-3-030-78311-2_10
doi:
Substances chimiques
Proto-Oncogene Proteins c-kit
EC 2.7.10.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
167-178Informations de copyright
© 2021. Springer Nature Switzerland AG.
Références
Swerdlow SH et al (2017) WHO classification of tumours of haematopoietic and lymphoid tissues, revised 4th edn. International Agency for Research on Cancer, Lyon, France
Nagata H, Worobec AS, Oh CK et al (1995) Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A 92:10560
doi: 10.1073/pnas.92.23.10560
Ustun C, Arock M, Kluin-Nelemans HC et al (2016) Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice. Haematologica 101(10):1133–1143
doi: 10.3324/haematol.2016.146563
Schaab J, Schnittger S. Sotlar K et al (2013) Comprehensive mutational profiling in advanced systemic Mastocytosis. Blood 12(14):460–466
Jawhar M, Schwaab J, Schnittger S et al (2016) Additional mutations in SRSF2, ASXL1 and or RUNX1identify a high risk group of patients with KIT D816V(+) advances systemic mastocytosis. Leukemia 30(1):136–143
doi: 10.1038/leu.2015.284
Jawhar m, Schwaab J, Schnittger S et al (2015) Molecular profiling of myeloid progenitor cells in multimutated advanced systemic mastocytosis identifies KITD8116V as a distinct and late event Leukmaia 29(5):1115–1122
Hanssens K, Brenet F, Agopian J et al (2014) SRSF2-p95 hotspot mutation is hifhly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes. Haematologica 99(5):830–835
doi: 10.3324/haematol.2013.095133
Yavuz AS, Lipsky PE, Yavuz S et al (2002) Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene. Blood 100:661
doi: 10.1182/blood-2002-01-0203
Grootens J, Ungerstedt JS, Ekoff M et al (2019) Single cell analysis reveals the KIT D816V mutation in hematopoietic stem and progenitor cells in systemic mastocytosis. EBioMedicine 43:150–158
doi: 10.1016/j.ebiom.2019.03.089
Naumann N, Jawhar M, Schwaab J (2018) Incidence and prognostic impact of cytogenetic aberrations in patients with systemic Mastocytosis. Genes Chromosomes Cancer 57(5):252–259
doi: 10.1002/gcc.22526
Pullarkat V, Bedell V, Kim Y et al (2007) Neoplastic mast cells in systemic mastocytosis associated with t(8;21) acute myeloid leukemia are derived from the leukemic clone. Leuk Res 31(2):261–265
doi: 10.1016/j.leukres.2006.03.006
Pullarkat VA, Bueso-Ramos C, Lai R et al (2003) Systemic mastocytosis associated with clonal hematological non mast cell lineage disease: analysis of clinicopathologic features and activating c-kit mtations. Am J Hematol 73(1):12–17
Morgado JM, Perbellini O, Johnson RC et al (2013) CD30 expression by bone marrow mast cells from different diagnostic variants of systemic mastocytosis. Histopathology 63:780–787
Sotlar K, Cerny-Reiterer S, Petat-Dutter K et al (2011) Aberrant expression of CD30 in neoplastic mast cells in high-grade mastocytosis. Mod Pathol 24:585–595
Reiter A, George TI, Gotlib J (2020) New developments in diagnosis, prognostication and treatment of advanced systemic mastocytosis. Blood 35(16):1365–1376
doi: 10.1182/blood.2019000932
Kim Y, Weiss LM, Chen YY, Pullarkat V (2007) Distinct clonal origins of systemic mastocytosis and associated B-cell lymphoma. Leuk Res 31(12):1749–1754
doi: 10.1016/j.leukres.2007.04.008
Johnson RC, Savage NM, Chiang T et al (2013) Hidden mastocytosis in acute myeloid leukemia with t(8;21)(q22;q22). Am J Clin Pathol 140(4):525–535
doi: 10.1309/AJCP1Q0YSXEAHNKK
Pardanani A (2019) Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management. Am J Hematol 94:363–377
pubmed: 30536695
Pardanani A (2013) How I treat patients with indolent and smoldering mastocytosis (rare conditions but difficult to manage). Blood 121:3085–3094
doi: 10.1182/blood-2013-01-453183
Gotlib J, Kluin-Nelemans HC, George TI et al (2016) Efficacy and safety of midostaurin in advanced systemic mastocytosis. N Engl J Med 374:2530–2541
Radia D, Deininger M, Gotlib J et al (2019) Avapritinib, a potent and selective inhibitor of KIT D816V induces complete and durable responses in patients with advanced systemic mastocytosis European Hematology Association Congress. Amsterdam, The Netherlands
Gotlib J, Pardanani A, Akin C et al (2013) International working group-myeloproliferative neoplasms research and treatment (IWG-MRT) & European competence network on mastocytosis (ECNM) consensus response criteria in advanced systemic mastocytosis. Blood 121
Kluin –Nelemans C, Oldhoff JM, Van Doormaal JJ (2003) Cladaribine therapy for systemic mastocytosis. Blood 102: 4270–4276
Casassus P, Caillat-Vigneron N, Martin A et al (2002) Treatment of adult systemic mastocytosis with interferon-alpha: results of a multicentre phase II trial on 20 patients. Br J Haematol 119:1090–1097
doi: 10.1046/j.1365-2141.2002.03944.x
Ustin C, Reiter A, Scott BL (2014) Hematopoietic stem cell transplantation for advanced systemic mastocytosis. J Clin Oncol 32:3264–3274
doi: 10.1200/JCO.2014.55.2018
Ustun C, Gotlib J, Popat U et al (2016) Consensus opinion on allogeneic hematopoietuc cell transplantation in advanced systemic mastocytosis. Biol Blood Marrow Transplant 22:1348–1356
doi: 10.1016/j.bbmt.2016.04.018