Page 74 - Haematologica Atlas of Hematologic Cytology

Cytogenetic abnormalities abnormalities include chromosomal abnormalities abnormalities also observed in in other myeloid malignancies: 5q- del(7) monosomy 7 7 trisomy trisomy 8 del(11) trisomy trisomy 13 and del(20) Somatic point mutations of the KIT proto-on- cogene that encodes the tyrosine kinase receptor for stem cell factor are detected as as recurring abnormalities These mutations result in in in in ligand-independent activation of KIT tyrosine kinase and and have an an an an important pathoge- netic role Mastocytosis
should be distinguished from mast mast cell cell hyperplasia or mast mast cell cell activation states which howe- ver do not present the the morphological and/or molecular abnormalities characteristic of the the neoplastic prolifera- tion Reference
Horny H-P Akin C C C Arber DA et et al al Mastocytosis
In: Swerdlow SH Campo E E Harris NL et et al al (Eds) WHO Classifi- cation of of Tumours of of Hematopoietic and Lymphoid tissues (Revised 4th edition) IARC: Lyon 2017 p p p 62-69 61