Case Report: Evolution of KIT D816V-Positive Systemic Mastocytosis to Myeloid Neoplasm With PDGFRA Rearrangement Responsive to Imatinib

Systemic mastocytosis (SM) is a rare neoplasm resulting from extracutaneous infiltration of clonal mast cells (MC). The clinical features of SM are very heterogenous and treatment should be highly individualized. Up to 40% of all SM cases can be associated with another hematological neoplasm, most f...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Mariarita Sciumè, Giusy Ceparano, Cristina Eller-Vainicher, Sonia Fabris, Silvia Lonati, Giorgio Alberto Croci, Luca Baldini, Federica Irene Grifoni
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	systemic mastocytosis myeloid neoplasm with PDGFRA rearrangement imatinib KIT D816V mutation clonal evolution Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Acceso en línea:	https://doaj.org/article/d61f120879b34964acba0336c9dd2af4
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:d61f120879b34964acba0336c9dd2af4
record_format	dspace
spelling	oai:doaj.org-article:d61f120879b34964acba0336c9dd2af42021-12-01T14:56:50ZCase Report: Evolution of KIT D816V-Positive Systemic Mastocytosis to Myeloid Neoplasm With PDGFRA Rearrangement Responsive to Imatinib2234-943X10.3389/fonc.2021.734025https://doaj.org/article/d61f120879b34964acba0336c9dd2af42021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fonc.2021.734025/fullhttps://doaj.org/toc/2234-943XSystemic mastocytosis (SM) is a rare neoplasm resulting from extracutaneous infiltration of clonal mast cells (MC). The clinical features of SM are very heterogenous and treatment should be highly individualized. Up to 40% of all SM cases can be associated with another hematological neoplasm, most frequently myeloproliferative neoplasms. Here, we present a patient with indolent SM who subsequently developed a myeloid neoplasm with PDGFRA rearrangement with complete response to low-dose imatinib. The 63-year-old patient presented with eosinophilia and elevated serum tryptase level. Bone marrow analysis revealed aberrant MCs in aggregates co-expressing CD2/CD25 and KIT D816V mutation (0.01%), and the FIP1L1-PDGFRA fusion gene was not identified. In the absence of ‘B’ and ‘C’ findings, we diagnosed an indolent form of SM. For 2 years after the diagnosis, the absolute eosinophil count progressively increased. Bone marrow evaluation showed myeloid hyperplasia and the FIP1L1-PDGFRA fusion gene was detected. Thus, the diagnosis of myeloid neoplasm with PDGFRA rearrangement was established. The patient was treated with imatinib 100 mg daily and rapidly obtained a complete molecular remission. The clinical, biological, and therapeutic aspects of SM might be challenging, especially when another associated hematological disease is diagnosed. Little is known about the underlying molecular and immunological mechanisms that can promote one entity prevailing over the other one. Currently, the preferred concept of SM pathogenesis is a multimutated neoplasm in which KIT mutations represent a “phenotype modifier” toward SM. Our patient showed an evolution from KIT mutated indolent SM to a myeloid neoplasm with PDGFRA rearrangement; when the eosinophilic component expanded, a regression of the MC counterpart was observed. In conclusion, extensive clinical monitoring associated with molecular testing is essential to better define these rare diseases and consequently their prognosis and treatment.Mariarita SciumèGiusy CeparanoCristina Eller-VainicherSonia FabrisSilvia LonatiGiorgio Alberto CrociLuca BaldiniLuca BaldiniFederica Irene GrifoniFrontiers Media S.A.articlesystemic mastocytosismyeloid neoplasm with PDGFRA rearrangementimatinibKIT D816V mutationclonal evolutionNeoplasms. Tumors. Oncology. Including cancer and carcinogensRC254-282ENFrontiers in Oncology, Vol 11 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	systemic mastocytosis myeloid neoplasm with PDGFRA rearrangement imatinib KIT D816V mutation clonal evolution Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
spellingShingle	systemic mastocytosis myeloid neoplasm with PDGFRA rearrangement imatinib KIT D816V mutation clonal evolution Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282 Mariarita Sciumè Giusy Ceparano Cristina Eller-Vainicher Sonia Fabris Silvia Lonati Giorgio Alberto Croci Luca Baldini Luca Baldini Federica Irene Grifoni Case Report: Evolution of KIT D816V-Positive Systemic Mastocytosis to Myeloid Neoplasm With PDGFRA Rearrangement Responsive to Imatinib
description	Systemic mastocytosis (SM) is a rare neoplasm resulting from extracutaneous infiltration of clonal mast cells (MC). The clinical features of SM are very heterogenous and treatment should be highly individualized. Up to 40% of all SM cases can be associated with another hematological neoplasm, most frequently myeloproliferative neoplasms. Here, we present a patient with indolent SM who subsequently developed a myeloid neoplasm with PDGFRA rearrangement with complete response to low-dose imatinib. The 63-year-old patient presented with eosinophilia and elevated serum tryptase level. Bone marrow analysis revealed aberrant MCs in aggregates co-expressing CD2/CD25 and KIT D816V mutation (0.01%), and the FIP1L1-PDGFRA fusion gene was not identified. In the absence of ‘B’ and ‘C’ findings, we diagnosed an indolent form of SM. For 2 years after the diagnosis, the absolute eosinophil count progressively increased. Bone marrow evaluation showed myeloid hyperplasia and the FIP1L1-PDGFRA fusion gene was detected. Thus, the diagnosis of myeloid neoplasm with PDGFRA rearrangement was established. The patient was treated with imatinib 100 mg daily and rapidly obtained a complete molecular remission. The clinical, biological, and therapeutic aspects of SM might be challenging, especially when another associated hematological disease is diagnosed. Little is known about the underlying molecular and immunological mechanisms that can promote one entity prevailing over the other one. Currently, the preferred concept of SM pathogenesis is a multimutated neoplasm in which KIT mutations represent a “phenotype modifier” toward SM. Our patient showed an evolution from KIT mutated indolent SM to a myeloid neoplasm with PDGFRA rearrangement; when the eosinophilic component expanded, a regression of the MC counterpart was observed. In conclusion, extensive clinical monitoring associated with molecular testing is essential to better define these rare diseases and consequently their prognosis and treatment.
format	article
author	Mariarita Sciumè Giusy Ceparano Cristina Eller-Vainicher Sonia Fabris Silvia Lonati Giorgio Alberto Croci Luca Baldini Luca Baldini Federica Irene Grifoni
author_facet	Mariarita Sciumè Giusy Ceparano Cristina Eller-Vainicher Sonia Fabris Silvia Lonati Giorgio Alberto Croci Luca Baldini Luca Baldini Federica Irene Grifoni
author_sort	Mariarita Sciumè
title	Case Report: Evolution of KIT D816V-Positive Systemic Mastocytosis to Myeloid Neoplasm With PDGFRA Rearrangement Responsive to Imatinib
title_short	Case Report: Evolution of KIT D816V-Positive Systemic Mastocytosis to Myeloid Neoplasm With PDGFRA Rearrangement Responsive to Imatinib
title_full	Case Report: Evolution of KIT D816V-Positive Systemic Mastocytosis to Myeloid Neoplasm With PDGFRA Rearrangement Responsive to Imatinib
title_fullStr	Case Report: Evolution of KIT D816V-Positive Systemic Mastocytosis to Myeloid Neoplasm With PDGFRA Rearrangement Responsive to Imatinib
title_full_unstemmed	Case Report: Evolution of KIT D816V-Positive Systemic Mastocytosis to Myeloid Neoplasm With PDGFRA Rearrangement Responsive to Imatinib
title_sort	case report: evolution of kit d816v-positive systemic mastocytosis to myeloid neoplasm with pdgfra rearrangement responsive to imatinib
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/d61f120879b34964acba0336c9dd2af4
work_keys_str_mv	AT mariaritasciume casereportevolutionofkitd816vpositivesystemicmastocytosistomyeloidneoplasmwithpdgfrarearrangementresponsivetoimatinib AT giusyceparano casereportevolutionofkitd816vpositivesystemicmastocytosistomyeloidneoplasmwithpdgfrarearrangementresponsivetoimatinib AT cristinaellervainicher casereportevolutionofkitd816vpositivesystemicmastocytosistomyeloidneoplasmwithpdgfrarearrangementresponsivetoimatinib AT soniafabris casereportevolutionofkitd816vpositivesystemicmastocytosistomyeloidneoplasmwithpdgfrarearrangementresponsivetoimatinib AT silvialonati casereportevolutionofkitd816vpositivesystemicmastocytosistomyeloidneoplasmwithpdgfrarearrangementresponsivetoimatinib AT giorgioalbertocroci casereportevolutionofkitd816vpositivesystemicmastocytosistomyeloidneoplasmwithpdgfrarearrangementresponsivetoimatinib AT lucabaldini casereportevolutionofkitd816vpositivesystemicmastocytosistomyeloidneoplasmwithpdgfrarearrangementresponsivetoimatinib AT lucabaldini casereportevolutionofkitd816vpositivesystemicmastocytosistomyeloidneoplasmwithpdgfrarearrangementresponsivetoimatinib AT federicairenegrifoni casereportevolutionofkitd816vpositivesystemicmastocytosistomyeloidneoplasmwithpdgfrarearrangementresponsivetoimatinib
_version_	1718404899403726848

Case Report: Evolution of KIT D816V-Positive Systemic Mastocytosis to Myeloid Neoplasm With PDGFRA Rearrangement Responsive to Imatinib

Ejemplares similares