伴有 LRRFIP1::FGFR1 重排和复杂核型的急性髓系白血病。
Acute myeloid leukemia with LRRFIP1::FGFR1 rearrangement and a complex karyotype.
机构信息
Department of Pathology, Roswell Park Comprehensive Cancer Center, Elm and Carlton Sts, Buffalo, NY 14263, USA.
Leukemia Service, Department of Medicine, Roswell Park Comprehensive Cancer Center, Elm and Carlton Sts, Buffalo, NY 14263, USA.
出版信息
Cancer Genet. 2023 Nov;278-279:50-54. doi: 10.1016/j.cancergen.2023.08.004. Epub 2023 Aug 15.
We report a case of a 20-year-old man who presented with splenomegaly, hyperleukocytosis, anemia, and thrombocytopenia. A diagnosis of acute myeloid leukemia (AML) with LRRFIP1::FGFR1 rearrangement with complex karyotype was determined. Chromosome analysis showed a male karyotype: 46,XY,i(1)(q10),t(2;8)(q37;p11.2),der(5)t(1;5) (p22;q13)[17]46,XY[3]. Fluorescence in situ hybridization (FISH) analysis using the Cytocell FGFR1 break apart/amplification probe detected FGFR1 rearrangement with t(2:8) in 126/200 cells analyzed. Other FISH probes including 1p36/ 1q25 probes, del(5q) deletion probe, TLX3 break apart probe, and PDGFRB break apart probe were also utilized to confirm the other karyotypic abnormalities. Next-generation sequencing (NGS) SureSelectXT Custom DNA Target Somatic Detection detected RUNX1 gene mutation. NGS Archer FusionPlex (RNA) confirmed the LRRFIP1::FGFR1 rearrangement. This is the second reported case of AML with LRRFIP1::FGFR1 rearrangement and the first with a complex karyotype.
我们报告了一例 20 岁男性患者，其表现为脾肿大、白细胞增多、贫血和血小板减少。诊断为伴有复杂核型的 LRRFIP1::FGFR1 重排的急性髓系白血病（AML）。染色体分析显示为男性核型：46,XY,i(1)(q10),t(2;8)(q37;p11.2),der(5)t(1;5) (p22;q13)[17]46,XY[3]。使用 Cytocell FGFR1 断裂/扩增探针的荧光原位杂交（FISH）分析检测到 126/200 个分析细胞中存在 t(2:8)的 FGFR1 重排。还利用了其他 FISH 探针，包括 1p36/1q25 探针、del(5q)缺失探针、TLX3 断裂探针和 PDGFRB 断裂探针，以确认其他核型异常。下一代测序（NGS）SureSelectXT Custom DNA Target Somatic Detection 检测到 RUNX1 基因突变。NGS Archer FusionPlex（RNA）证实了 LRRFIP1::FGFR1 重排。这是第二例报道的伴有 LRRFIP1::FGFR1 重排的 AML 病例，也是首例伴有复杂核型的病例。
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