Table 1. Features of NUP214-ABL1... | American Society of Hematology

Table 1.

Features of NUP214-ABL1-positive patients

Patient	Sex	Age, y	Material	Immunophenotype	Transcript	Cytogenetics	*HOX11*	WBC count, × 10⁹/L	Clinical course
3	M	18	BM	Thymic^*	nup31a2	46,XY FISH: positive	TLX1^–TLX3⁺	122.0	CCR d979; alive d998
4	M	20	PB	Thymic	nup31a3	46,XY,del(6)(q15q21)5; 46,XY¹⁰	TLX1^–TLX3^–	103.8	CCR d768; alive d793
5	M	39	BM	Thymic†	nup31a2	46,XY	TLX1⁺TLX3^–	158.6	CCR d1457; alive d1469
6	M	34	PB	Thymic	nup31a2	46,XY¹⁰/45,XY,–14¹FISH:positive	TLX1⁺TLX3^–	15.6	CCR d1105; alive d1133
7	M	28	BM	Thymic	nup31a2	NA; FISH: positive	TLX1⁺TLX3^–	60.2	Death d86 (in CR)
8	M	23	BM	Thymic	nup29a2	46,XY	TLX1⁺TLX3^–	181.4	CCR d1791; alive d1832
9	M	18	BM	Thymic	nup29a3	46,XY	TLX1^–TLX3^–	151.0	CCRd2118; alive d2156
10	F	34	BM	Mature	nup34a2	46,XX	TLX1⁺TLX3⁺	20.7	Death d554 (in CR)
11	M	31	BM	Mature	nup34a2	NA	NA	1.8	Relapse d496; death d936
12	M	18	BM	Early T‡	nup31a3	46,XY; FISH: positive	TLX1^–TLX3⁺	150.0	Relapse d778; alive d1014
13	F	27	PB	Thymic	nup28a2	NA	TLX1⁺TLX3^–	66.0	Relapse d107; death d209

Patient	Sex	Age, y	Material	Immunophenotype	Transcript	Cytogenetics	*HOX11*	WBC count, × 10⁹/L	Clinical course
3	M	18	BM	Thymic^*	nup31a2	46,XY FISH: positive	TLX1^–TLX3⁺	122.0	CCR d979; alive d998
4	M	20	PB	Thymic	nup31a3	46,XY,del(6)(q15q21)5; 46,XY¹⁰	TLX1^–TLX3^–	103.8	CCR d768; alive d793
5	M	39	BM	Thymic†	nup31a2	46,XY	TLX1⁺TLX3^–	158.6	CCR d1457; alive d1469
6	M	34	PB	Thymic	nup31a2	46,XY¹⁰/45,XY,–14¹FISH:positive	TLX1⁺TLX3^–	15.6	CCR d1105; alive d1133
7	M	28	BM	Thymic	nup31a2	NA; FISH: positive	TLX1⁺TLX3^–	60.2	Death d86 (in CR)
8	M	23	BM	Thymic	nup29a2	46,XY	TLX1⁺TLX3^–	181.4	CCR d1791; alive d1832
9	M	18	BM	Thymic	nup29a3	46,XY	TLX1^–TLX3^–	151.0	CCRd2118; alive d2156
10	F	34	BM	Mature	nup34a2	46,XX	TLX1⁺TLX3⁺	20.7	Death d554 (in CR)
11	M	31	BM	Mature	nup34a2	NA	NA	1.8	Relapse d496; death d936
12	M	18	BM	Early T‡	nup31a3	46,XY; FISH: positive	TLX1^–TLX3⁺	150.0	Relapse d778; alive d1014
13	F	27	PB	Thymic	nup28a2	NA	TLX1⁺TLX3^–	66.0	Relapse d107; death d209

Genetic, immunologic, and clinical features of the 11 NUP214-ABL1–positive patients. Numbering corresponds to that in Figure 2B (Nos. 1 and 2: cell lines BE-13 and ALL-SIL, respectively).

HOX11: aberrant expression of TLX1 (HOX11) and TLX3 (HOX11L2) genes; WBC count, peripheral leukocyte count per microliter; transcript, NUP214-ABL1 fusion transcript. One patient was not evaluable for HOX11 gene expression because of sparse material, and cytogenetic data were not available (NA) for 3 patients. FISH data were available for 4 patients, all showing an ABL1 and an NUP214 amplification

With CD56/CD16 (NK-like) coexpression

†

Without CD2 expression

‡

With CD13 coexpression

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