TY - JOUR
T1 - An Acute Promyelocytic Leukemia Resistant to All-Trans Retinoic Acid
T2 - A Case Report of the ZBTB16::RARa Variant and Review of the Literature
AU - Castelijn, Daan A. R.
AU - Sijm, Gerrit
AU - Venniker-Punt, Bianca
AU - Poddighe, Pino J.
AU - Wondergem, Marielle J.
PY - 2023/11/23
Y1 - 2023/11/23
N2 - Introduction: Acute promyelocytic leukemia (APL) is characterized by the PML::RARa gene fusion and treatment consists of all-trans retinoic acid (ATRA). Rarely, genetic APL variants have been described which are insensitive to ATRA treatment and are therefore associated with a worse prognosis. Rapid identification of the APL variant is essential to start the correct treatment. Case Presentation: Here, we present a case of a 66-year-old male patient with weight loss and arthralgia. Laboratory results showed an anemia and mild leukocytosis with predominantly monocytes. Bone marrow investigation unexpectedly revealed a t(11;17)(q23;q21). This raised suspicion of an ATRA-resistant APL. By demonstrating the ZBTB16::RARa gene fusion, the diagnosis was confirmed. Conclusion: This case study emphasizes the importance of integrated diagnostics and provides guidance to recognize the ZBTB16::RARa APL, which is the most prevalent ATRA-resistant APL. Furthermore, an overview of other genetic APL variants is presented and how to treat these uncommon diseases in clinical practice.
AB - Introduction: Acute promyelocytic leukemia (APL) is characterized by the PML::RARa gene fusion and treatment consists of all-trans retinoic acid (ATRA). Rarely, genetic APL variants have been described which are insensitive to ATRA treatment and are therefore associated with a worse prognosis. Rapid identification of the APL variant is essential to start the correct treatment. Case Presentation: Here, we present a case of a 66-year-old male patient with weight loss and arthralgia. Laboratory results showed an anemia and mild leukocytosis with predominantly monocytes. Bone marrow investigation unexpectedly revealed a t(11;17)(q23;q21). This raised suspicion of an ATRA-resistant APL. By demonstrating the ZBTB16::RARa gene fusion, the diagnosis was confirmed. Conclusion: This case study emphasizes the importance of integrated diagnostics and provides guidance to recognize the ZBTB16::RARa APL, which is the most prevalent ATRA-resistant APL. Furthermore, an overview of other genetic APL variants is presented and how to treat these uncommon diseases in clinical practice.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85178153480&origin=inward
U2 - 10.1159/000534862
DO - 10.1159/000534862
M3 - Article
C2 - 38028572
SN - 1662-6575
VL - 16
SP - 1443
EP - 1450
JO - Case reports in oncology
JF - Case reports in oncology
IS - 1
ER -