Post-Essential Thrombocythemia Myelofibrosis and Multiple Isodicentric Y Chromosomes: A Unique Case among a Rare Association.
Aged
Alleles
Chromosomes, Human, Y
/ genetics
Humans
In Situ Hybridization, Fluorescence
Karyotype
Karyotyping
Male
Mosaicism
Nitriles
Platelet Count
Primary Myelofibrosis
/ complications
Prognosis
Pyrazoles
/ therapeutic use
Pyrimidines
Receptors, Cytokine
/ genetics
Sex Chromosome Aberrations
Thrombocythemia, Essential
/ complications
<italic>CRLF2</italic>
Essential thrombocythemia
FISH
Isodicentric Y chromosomes
Myelofibrosis
Ruxolitinib
Journal
Cytogenetic and genome research
ISSN: 1424-859X
Titre abrégé: Cytogenet Genome Res
Pays: Switzerland
ID NLM: 101142708
Informations de publication
Date de publication:
2020
2020
Historique:
accepted:
20
12
2019
pubmed:
3
2
2020
medline:
18
4
2020
entrez:
3
2
2020
Statut:
ppublish
Résumé
Multiple isodicentric Y chromosomes [idic(Y)] is a rare cytogenetic abnormality, most exclusively described in constitutional karyotypes. Only recently has this entity been reported in hematologic neoplasms such as myeloid disorders, albeit these cases remain very scarce. The possible involvement of increasing copies of potential proto-oncogenes located on the multiple idic(Y) led to consider one of them, CRLF2, as a target for kinase inhibitors. We report here, to our knowledge, the first case of multiple idic(Y) in a patient with myelofibrosis secondary to essential thrombocythemia. The patient received ruxolitinib therapy with initial good clinical response.
Identifiants
pubmed: 32008001
pii: 000505844
doi: 10.1159/000505844
doi:
Substances chimiques
CRLF2 protein, human
0
Nitriles
0
Pyrazoles
0
Pyrimidines
0
Receptors, Cytokine
0
ruxolitinib
82S8X8XX8H
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
18-21Informations de copyright
© 2020 S. Karger AG, Basel.