SYSTEMIC MASTOCYTOSIS: MOLECULAR LANDSCAPE AND IMPLICATIONS FOR TREATMENT
Over the past decade we have witnessed major advances in the molecular characterization of systemic mastocytosis (SM). This has provided important information for a better understanding of the pathogenesis of the disease but has also practically impacted on the way we diagnose and manage it. Advance...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
PAGEPress Publications
2021-06-01
|
| Series: | Mediterranean Journal of Hematology and Infectious Diseases |
| Online Access: | https://www.mjhid.org/index.php/mjhid/article/view/4666 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1846098461250813952 |
|---|---|
| author | Cecilia Monaldi Sara De Santis Manuela Mancini Samantha Bruno Michele Cavo Simona Soverini |
| author_facet | Cecilia Monaldi Sara De Santis Manuela Mancini Samantha Bruno Michele Cavo Simona Soverini |
| author_sort | Cecilia Monaldi |
| collection | DOAJ |
| description | Over the past decade we have witnessed major advances in the molecular characterization of systemic mastocytosis (SM). This has provided important information for a better understanding of the pathogenesis of the disease but has also practically impacted on the way we diagnose and manage it. Advances in molecular testing has indeed run in parallel with advances in therapeutic targeting of constitutive active KIT, the major driver of the disease. Assessing the molecular landscape in each individual SM patient is nowadays important for diagnosis, prognosis, treatment and monitoring of therapeutic efficacy. This is facilitated by the routine availability of novel technologies like digital PCR and NGS. This review aims to summarize the pathogenesis of the disease, discuss the value of molecular diagnostic testing and how it should be performed, and provide an overview of present and future therapeutic concepts based on fine molecular characterization of SM patients. |
| format | Article |
| id | doaj-art-052cdf27751e46f1aacf57ad9e044d1f |
| institution | Kabale University |
| issn | 2035-3006 |
| language | English |
| publishDate | 2021-06-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | Mediterranean Journal of Hematology and Infectious Diseases |
| spelling | doaj-art-052cdf27751e46f1aacf57ad9e044d1f2025-01-02T00:23:24ZengPAGEPress PublicationsMediterranean Journal of Hematology and Infectious Diseases2035-30062021-06-0113110.4084/MJHID.2021.046SYSTEMIC MASTOCYTOSIS: MOLECULAR LANDSCAPE AND IMPLICATIONS FOR TREATMENTCecilia Monaldi0Sara De SantisManuela ManciniSamantha BrunoMichele CavoSimona Soverinia:1:{s:5:"en_US";s:106:"Dipartimento di Medicina Specialistica, Diagnostica e Sperimentale, Università di Bologna, Bologna, Italy";}Over the past decade we have witnessed major advances in the molecular characterization of systemic mastocytosis (SM). This has provided important information for a better understanding of the pathogenesis of the disease but has also practically impacted on the way we diagnose and manage it. Advances in molecular testing has indeed run in parallel with advances in therapeutic targeting of constitutive active KIT, the major driver of the disease. Assessing the molecular landscape in each individual SM patient is nowadays important for diagnosis, prognosis, treatment and monitoring of therapeutic efficacy. This is facilitated by the routine availability of novel technologies like digital PCR and NGS. This review aims to summarize the pathogenesis of the disease, discuss the value of molecular diagnostic testing and how it should be performed, and provide an overview of present and future therapeutic concepts based on fine molecular characterization of SM patients.https://www.mjhid.org/index.php/mjhid/article/view/4666 |
| spellingShingle | Cecilia Monaldi Sara De Santis Manuela Mancini Samantha Bruno Michele Cavo Simona Soverini SYSTEMIC MASTOCYTOSIS: MOLECULAR LANDSCAPE AND IMPLICATIONS FOR TREATMENT Mediterranean Journal of Hematology and Infectious Diseases |
| title | SYSTEMIC MASTOCYTOSIS: MOLECULAR LANDSCAPE AND IMPLICATIONS FOR TREATMENT |
| title_full | SYSTEMIC MASTOCYTOSIS: MOLECULAR LANDSCAPE AND IMPLICATIONS FOR TREATMENT |
| title_fullStr | SYSTEMIC MASTOCYTOSIS: MOLECULAR LANDSCAPE AND IMPLICATIONS FOR TREATMENT |
| title_full_unstemmed | SYSTEMIC MASTOCYTOSIS: MOLECULAR LANDSCAPE AND IMPLICATIONS FOR TREATMENT |
| title_short | SYSTEMIC MASTOCYTOSIS: MOLECULAR LANDSCAPE AND IMPLICATIONS FOR TREATMENT |
| title_sort | systemic mastocytosis molecular landscape and implications for treatment |
| url | https://www.mjhid.org/index.php/mjhid/article/view/4666 |
| work_keys_str_mv | AT ceciliamonaldi systemicmastocytosismolecularlandscapeandimplicationsfortreatment AT saradesantis systemicmastocytosismolecularlandscapeandimplicationsfortreatment AT manuelamancini systemicmastocytosismolecularlandscapeandimplicationsfortreatment AT samanthabruno systemicmastocytosismolecularlandscapeandimplicationsfortreatment AT michelecavo systemicmastocytosismolecularlandscapeandimplicationsfortreatment AT simonasoverini systemicmastocytosismolecularlandscapeandimplicationsfortreatment |