Research progress in phenotypic characteristics and treatment efficacy evaluation of acute promyelocytic leukemia variants

doi:10.3969/j.issn.1673-8640.2025.06.016

Abstract

Abstract:

Acute promyelocytic leukemia（APL） is a unique subtype of acute myeloid leukemia（AML），more than 98% of patients belong to typical APL，expressing PML::RARα，sensitive to all-trans retinoic acid（ATRA） and arsenic trioxide（ATO） induced differentiation，and its clinical effect is good. Variant APL exhibits different clinical and morphologic characteristics and responds differently to ATRA compared with classic APL. This review summarizes and analyzes the clinical characteristics，incidence rate，laboratory determinations，sensitivities to ATRA，ATO and chemotherapy，as well as the prognosis of patients with variant APL. It also draws the 3D gene fusion profile of variant APL to investigate its role in the occurrence of APL and its mechanism of ATRA.

Key words: Variant acute promyelocytic leukemia, All-trans retinoic acid, Clinical characteristic, Out-come

CLC Number:

R446.1

MA Jingyun, WANG Mengmeng, XIONG Boyu, DAI Zhuowen, PAN Yueyue, WANG Qiong. Research progress in phenotypic characteristics and treatment efficacy evaluation of acute promyelocytic leukemia variants[J]. Laboratory Medicine, 2025, 40(6): 606-614.

Figures/Tables 2

References 34

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融合染色体	融合基因	变异型APL发生情况	对ATRA的反应	对ATO的反应	参考文献
t（1；17）（q42；q21）	IRF2BP2::RARA	7例	敏感	无数据	[5]
t（2；17）（q32；q21）	NABP1::RARA	1例	不确定	无数据	[5]
t（3；17）（q26；q21）	FNDC3B::RARA	1例	不确定	无数据	[9]
t（3；14；17）（q12；q11；q21）	TFG::RARA	1例	敏感	无数据	[5]
t（3；17）（q26；q21）	TBLR1::RARA	4例	不敏感	敏感	[5]
t（4；17）（q12；q21）	FIP1L1::RARA	5例	敏感	无数据	[9]
t（5；17）（q35；q21）	NPM1::RARA	>10例	敏感	无数据	[5]
t（7；17）（q11；q21）	GTF2I::RARA	1例	抵抗	抵抗	[9]
t（7；17）（p22；q21）	TNRC18::RARA	2例	抵抗	抵抗	[15-16]
t（11；17）（q23；q21）	ZBTB16::RARA	>30例	抵抗	抵抗	[18]
t（11；17）（q13；q21）	NUMA::RARA	1例	敏感	无数据	[9]
无	NUP98::RARA	1例	无数据	无数据	[21]
t（14；17）（q11；q21）	HNRNPC::RARA	1例	抵抗	无数据	[22]
t（15；17）（q22；q21）	PML::RARA	>98%	敏感	敏感	[5]
t（X；17）（p11；q21）	BCOR::RARA	3例	敏感	抵抗	[9]
t（17；17）（q21；q24）	PRKAR1A::RARA	1例	不确定	不确定	[24]
t（17；17）（q21；q21）	STAT3::RARA	3例	抵抗	抵抗	[25]
t（17；17）（q21；q21）	STAT5B::RARA	>10例	抵抗	抵抗	[27]

融合染色体	融合基因	变异型APL发生情况	对ATRA的反应	对ATO的反应	参考文献
t（1；17）（q42；q21）	IRF2BP2::RARA	7例	敏感	无数据	[5]
t（2；17）（q32；q21）	NABP1::RARA	1例	不确定	无数据	[5]
t（3；17）（q26；q21）	FNDC3B::RARA	1例	不确定	无数据	[9]
t（3；14；17）（q12；q11；q21）	TFG::RARA	1例	敏感	无数据	[5]
t（3；17）（q26；q21）	TBLR1::RARA	4例	不敏感	敏感	[5]
t（4；17）（q12；q21）	FIP1L1::RARA	5例	敏感	无数据	[9]
t（5；17）（q35；q21）	NPM1::RARA	>10例	敏感	无数据	[5]
t（7；17）（q11；q21）	GTF2I::RARA	1例	抵抗	抵抗	[9]
t（7；17）（p22；q21）	TNRC18::RARA	2例	抵抗	抵抗	[15-16]
t（11；17）（q23；q21）	ZBTB16::RARA	>30例	抵抗	抵抗	[18]
t（11；17）（q13；q21）	NUMA::RARA	1例	敏感	无数据	[9]
无	NUP98::RARA	1例	无数据	无数据	[21]
t（14；17）（q11；q21）	HNRNPC::RARA	1例	抵抗	无数据	[22]
t（15；17）（q22；q21）	PML::RARA	>98%	敏感	敏感	[5]
t（X；17）（p11；q21）	BCOR::RARA	3例	敏感	抵抗	[9]
t（17；17）（q21；q24）	PRKAR1A::RARA	1例	不确定	不确定	[24]
t（17；17）（q21；q21）	STAT3::RARA	3例	抵抗	抵抗	[25]
t（17；17）（q21；q21）	STAT5B::RARA	>10例	抵抗	抵抗	[27]