Precision Medicine in Systemic Mastocytosis

Mastocytosis is a rare hematological neoplasm characterized by the proliferation of abnormal clonal mast cells (MCs) in different cutaneous and extracutaneous organs. Its diagnosis is based on well-defined major and minor criteria, including the pathognomonic dense infiltrate of MCs detected in bone...

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Autores principales:	Maura Nicolosi, Andrea Patriarca, Annalisa Andorno, Abdurraouf Mokhtar Mahmoud, Alessandra Gennari, Renzo Boldorini, Gianluca Gaidano, Elena Crisà
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	systemic mastocytosis genetics <i>KIT</i> tyrosine kinase inhibitor precision medicine Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/1b91025ea76c4aaba2df3e3a1bfb94d5
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id	oai:doaj.org-article:1b91025ea76c4aaba2df3e3a1bfb94d5
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spelling	oai:doaj.org-article:1b91025ea76c4aaba2df3e3a1bfb94d52021-11-25T18:17:54ZPrecision Medicine in Systemic Mastocytosis10.3390/medicina571111351648-91441010-660Xhttps://doaj.org/article/1b91025ea76c4aaba2df3e3a1bfb94d52021-10-01T00:00:00Zhttps://www.mdpi.com/1648-9144/57/11/1135https://doaj.org/toc/1010-660Xhttps://doaj.org/toc/1648-9144Mastocytosis is a rare hematological neoplasm characterized by the proliferation of abnormal clonal mast cells (MCs) in different cutaneous and extracutaneous organs. Its diagnosis is based on well-defined major and minor criteria, including the pathognomonic dense infiltrate of MCs detected in bone marrow (BM), elevated serum tryptase level, abnormal MCs CD25 expression, and the identification of <i>KIT</i> D816V mutation. The World Health Organization (WHO) classification subdivides mastocytosis into a cutaneous form (CM) and five systemic variants (SM), namely indolent/smoldering (ISM/SSM) and advanced SM (AdvSM) including aggressive SM (ASM), SM associated to hematological neoplasms (SM-AHN), and mast cell leukemia (MCL). More than 80% of patients with SM carry a somatic point mutation of <i>KIT</i> at codon 816, which may be targeted by kinase inhibitors. The presence of additional somatic mutations detected by next generation sequencing analysis may impact prognosis and drive treatment strategy, which ranges from symptomatic drugs in indolent forms to kinase-inhibitors active on <i>KIT</i>. Allogeneic stem cell transplant (SCT) may be considered in selected SM cases. Here, we review the clinical, diagnostic, and therapeutic issues of SM, with special emphasis on the translational implications of SM genetics for a precision medicine approach in clinical practice.Maura NicolosiAndrea PatriarcaAnnalisa AndornoAbdurraouf Mokhtar MahmoudAlessandra GennariRenzo BoldoriniGianluca GaidanoElena CrisàMDPI AGarticlesystemic mastocytosisgenetics<i>KIT</i>tyrosine kinase inhibitorprecision medicineMedicine (General)R5-920ENMedicina, Vol 57, Iss 1135, p 1135 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	systemic mastocytosis genetics <i>KIT</i> tyrosine kinase inhibitor precision medicine Medicine (General) R5-920
spellingShingle	systemic mastocytosis genetics <i>KIT</i> tyrosine kinase inhibitor precision medicine Medicine (General) R5-920 Maura Nicolosi Andrea Patriarca Annalisa Andorno Abdurraouf Mokhtar Mahmoud Alessandra Gennari Renzo Boldorini Gianluca Gaidano Elena Crisà Precision Medicine in Systemic Mastocytosis
description	Mastocytosis is a rare hematological neoplasm characterized by the proliferation of abnormal clonal mast cells (MCs) in different cutaneous and extracutaneous organs. Its diagnosis is based on well-defined major and minor criteria, including the pathognomonic dense infiltrate of MCs detected in bone marrow (BM), elevated serum tryptase level, abnormal MCs CD25 expression, and the identification of <i>KIT</i> D816V mutation. The World Health Organization (WHO) classification subdivides mastocytosis into a cutaneous form (CM) and five systemic variants (SM), namely indolent/smoldering (ISM/SSM) and advanced SM (AdvSM) including aggressive SM (ASM), SM associated to hematological neoplasms (SM-AHN), and mast cell leukemia (MCL). More than 80% of patients with SM carry a somatic point mutation of <i>KIT</i> at codon 816, which may be targeted by kinase inhibitors. The presence of additional somatic mutations detected by next generation sequencing analysis may impact prognosis and drive treatment strategy, which ranges from symptomatic drugs in indolent forms to kinase-inhibitors active on <i>KIT</i>. Allogeneic stem cell transplant (SCT) may be considered in selected SM cases. Here, we review the clinical, diagnostic, and therapeutic issues of SM, with special emphasis on the translational implications of SM genetics for a precision medicine approach in clinical practice.
format	article
author	Maura Nicolosi Andrea Patriarca Annalisa Andorno Abdurraouf Mokhtar Mahmoud Alessandra Gennari Renzo Boldorini Gianluca Gaidano Elena Crisà
author_facet	Maura Nicolosi Andrea Patriarca Annalisa Andorno Abdurraouf Mokhtar Mahmoud Alessandra Gennari Renzo Boldorini Gianluca Gaidano Elena Crisà
author_sort	Maura Nicolosi
title	Precision Medicine in Systemic Mastocytosis
title_short	Precision Medicine in Systemic Mastocytosis
title_full	Precision Medicine in Systemic Mastocytosis
title_fullStr	Precision Medicine in Systemic Mastocytosis
title_full_unstemmed	Precision Medicine in Systemic Mastocytosis
title_sort	precision medicine in systemic mastocytosis
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/1b91025ea76c4aaba2df3e3a1bfb94d5
work_keys_str_mv	AT mauranicolosi precisionmedicineinsystemicmastocytosis AT andreapatriarca precisionmedicineinsystemicmastocytosis AT annalisaandorno precisionmedicineinsystemicmastocytosis AT abdurraoufmokhtarmahmoud precisionmedicineinsystemicmastocytosis AT alessandragennari precisionmedicineinsystemicmastocytosis AT renzoboldorini precisionmedicineinsystemicmastocytosis AT gianlucagaidano precisionmedicineinsystemicmastocytosis AT elenacrisa precisionmedicineinsystemicmastocytosis
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Precision Medicine in Systemic Mastocytosis

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