Acute myeloid leukemia with NUP98::RARG resembling acute promyelocytic leukemia accompanying ARID1B gene mutation.

Abstract

In this study, we present a case of acute myeloid leukemia characterized by the t(11;12)(p15;q13) translocation, exhibiting clinical, immunophenotypical, and morphological features consistent with acute promyelocytic leukemia (APL). The RNA sequencing analysis of the patient's bone marrow samples revealed the presence of the NUP98-retinoic acid receptor gamma (RARG) (NUP98::RARG) gene resulting from the translocation. Furthermore, the presence of a mutation in the ARID1B gene in the patient under study indicates a potential association with resistance to all-trans retinoic acid (ATRA).

• Authors: Danyang Wu, Ran Gao
• Journal: Hematology (Amsterdam, Netherlands) (Hematology) Vol. 28 Issue 1 Pg. 2227495 (Dec 2023) ISSN: 1607-8454 [Electronic] England
• PMID: 37387408 (Publication Type: Case Reports, Journal Article)

Chemical References

• nuclear pore complex protein 98
• Tretinoin
• ARID1B protein, human
• DNA-Binding Proteins
• Transcription Factors

Topics

• Humans
• Leukemia, Promyelocytic, Acute (diagnosis, genetics)
• Leukemia, Myeloid, Acute (diagnosis, genetics)
• Tretinoin (therapeutic use)
• Mutation
• Translocation, Genetic
• DNA-Binding Proteins
• Transcription Factors (genetics)