Transformation into acute myeloid leukemia with t(8;21)(q22;q22.1); RUNX1::RUNX1T1 from JAK2-mutated essential thrombocythemia: a case report.
Humans
Female
Leukemia, Myeloid, Acute
/ genetics
Aged
Janus Kinase 2
/ genetics
Core Binding Factor Alpha 2 Subunit
/ genetics
Thrombocythemia, Essential
/ genetics
Translocation, Genetic
RUNX1 Translocation Partner 1 Protein
/ genetics
Chromosomes, Human, Pair 8
/ genetics
Chromosomes, Human, Pair 21
/ genetics
Mutation
JAK2 V617F
RUNX1::RUNX1T1
Essential thrombocythemia
Myeloproliferative neoplasms
Secondary acute myeloid leukemia
t(8;21)(q22;q22.1)
Journal
Journal of medical case reports
ISSN: 1752-1947
Titre abrégé: J Med Case Rep
Pays: England
ID NLM: 101293382
Informations de publication
Date de publication:
18 Aug 2024
18 Aug 2024
Historique:
received:
09
12
2023
accepted:
22
06
2024
medline:
18
8
2024
pubmed:
18
8
2024
entrez:
17
8
2024
Statut:
epublish
Résumé
Blast transformation is a rare but well-recognized event in Philadelphia-negative myeloproliferative neoplasms associated with a poor prognosis. Secondary acute myeloid leukemias evolving from myeloproliferative neoplasms are characterized by a unique set of cytogenetic and molecular features distinct from de novo disease. t(8;21) (q22;q22.1); RUNX1::RUNX1T1, one of the most frequent cytogenetic abnormalities in de novo acute myeloid leukemia, is rarely observed in post-myeloproliferative neoplasm acute myeloid leukemia. Here we report a case of secondary acute myeloid leukemia with t(8;21) evolving from JAK2-mutated essential thrombocythemia. The patient was a 74-year-old Japanese woman who was referred because of thrombocytosis (platelets 1046 × 10 To our best knowledge, the present case is the first one with JAK2 mutation preceding the acquisition of t(8;21). Our result suggests that t(8;21); RUNX1::RUNX1T1 can be generated as a late event in the progression of JAK2-mutated myeloproliferative neoplasms. The case presented typical morphological and immunophenotypic features associated with t(8;21) acute myeloid leukemia.
Sections du résumé
BACKGROUND
BACKGROUND
Blast transformation is a rare but well-recognized event in Philadelphia-negative myeloproliferative neoplasms associated with a poor prognosis. Secondary acute myeloid leukemias evolving from myeloproliferative neoplasms are characterized by a unique set of cytogenetic and molecular features distinct from de novo disease. t(8;21) (q22;q22.1); RUNX1::RUNX1T1, one of the most frequent cytogenetic abnormalities in de novo acute myeloid leukemia, is rarely observed in post-myeloproliferative neoplasm acute myeloid leukemia. Here we report a case of secondary acute myeloid leukemia with t(8;21) evolving from JAK2-mutated essential thrombocythemia.
CASE PRESENTATION
METHODS
The patient was a 74-year-old Japanese woman who was referred because of thrombocytosis (platelets 1046 × 10
CONCLUSIONS
CONCLUSIONS
To our best knowledge, the present case is the first one with JAK2 mutation preceding the acquisition of t(8;21). Our result suggests that t(8;21); RUNX1::RUNX1T1 can be generated as a late event in the progression of JAK2-mutated myeloproliferative neoplasms. The case presented typical morphological and immunophenotypic features associated with t(8;21) acute myeloid leukemia.
Identifiants
pubmed: 39154170
doi: 10.1186/s13256-024-04691-0
pii: 10.1186/s13256-024-04691-0
doi:
Substances chimiques
Janus Kinase 2
EC 2.7.10.2
Core Binding Factor Alpha 2 Subunit
0
JAK2 protein, human
EC 2.7.10.2
RUNX1 Translocation Partner 1 Protein
0
RUNX1 protein, human
0
RUNX1T1 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
372Informations de copyright
© 2024. The Author(s).
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