Myeloid/lymphoid neoplasm with CEP110-FGFR1 fusion: An analysis of 16 cases show common features and poor prognosis

Figures & data

Figure 1. Morphologic changes, FISH analysis and RT-PCR of CEP110-FGFR1 fusion in bone marrow cells at the diagnosis. (a/b) Initial bone marrow showed hypercellular with eosinophilia (black arrow) and monocytosis (red arrow); no definite blasts were found in this specimen (WrighteGiemsa, 1000). (c) Nucleotide sequence analysis of the PCR product showing CEP110/FGFR1 fusion transcript with a breakpoint at exon 38 of the CEP110 gene and at exon 9 of the FGFR1 gene.

Table 1. Clinical and laboratory features of 16 Cases with CEP110-FGFR1 fusions.

Case No./Sex/Age(y)	Bone marrow	Initial diagnosis	Karyotype	Therapy Regimens	Outcome
1/M/36	Hypercellular eosinophilia	T-cell lymphoma associated with HES	46,XY,t(8;9)(p11;q33)	IMVP-16PL, EPOCH, IM, cytarabine, and idarubicin	Acute leukemic transformation; Alive (follow-up period not reported) [15]
2/M/50	Blastsand eosinophilia	Ph^− CML	48,XY,t(8;9)(p11.2;q33),+19,+21	IM, interferon, IDA and BHAC	AMMoL transformation; Dead (10 months) [17]
3/F/57	Hypercellular, blast and eosinophilia	Biphenotypic acute leukaemia (B + Mono)	46,XX, t(8;9)(p11;q33)	Cyclophosphamide/daunorubicin/vincristin/prednisolone followed by Allo-HSCT	Died of multiple organ failure (6 months)[16]
4/M/69	Hypercellular blasts, and eosinophilia	AMMoL	46,XY, der(8)? t(8;9)(p11;q33), der(9)?t(8;9)(p12;q33)?ins(9;?)(q22;?) or add(9)(q22)[19]/46,XY[1]	Aracytine/daunorubicin, hydroxyurea/rapamycin, aracytine/rapamycin, and VP16/aracytine	Dead (5 months) [7]
5/M/37	Hypercellular eosinophilia	ECL	46,XY, t(8;9)(p12;q33)[8]/48, idem, +der(9)t(8;9);+21[12].	Hydroxyurea, chemotherapy	AMMoL transformation(1 month), dead (11 months) [18]
6/M/?	NA	MPN	46,XY, inv(2)(p15q21) t(8;9)(p11;q34)	BMT	NA[19]
7/F/9	Hypercellular, eosinophilia	EMS	46,XX, t(8;9)(p12;q33)[13]/46,XX[7]	No chemotherapy, or interferon, or IM	Acute leukemic transformation; Dead (5 months) [11]
8/M/9	Hypercellular, blasts, eosinophilia	EMS	46,XY,t(8;9)(p11;q33)	DNR, Dex, Ara-C, vindesine sulphate, IM, followed by Allo-HSCT	Alive, (>5 months) [12]
9/F/0.6	Eosinophilia	EMS	46,XY,t(8;9)(p11;q33)	Hydroxyurea, prednisolone Allo-HSCT	Dead (196 days) [9]
10/M/17	Hypercellularity with dysplasia and blasts	AML (M0)	46,XY,t(8;9)(p12;q33)	IA, Allo-HSCT	Dead (9 months) [20]
11/F/64	Hypercellular, eosinophilia	EMS	46,XY,t(8;9)(p12;q33)	Prednisone, IM, IA, and dasatinib	Progressed into AML, Dead (about 10 years) [8]
12/M/49	Hypercellular eosinophilia	EMS	46,XY, t(8;9)(p12;q33)	Prednisolone, hydroxyurea	Dead (8 months) [21]
13/M/50	Hypercellular eosinophilia	MPN	46,XY, t(8;9)(p12;q33)	INCB054828, chemotherapy, Allo-HSCT	Alive, 24 months from the original diagnosis after HSCT[13]
14/M/0.65	Hyperplasia with increased eosinophils	EMS	46,XY, t(8;9)(p12;q33)	Allo-HSCT	Died of GVHD and multiple infections (11 months) [10]
15/F/42	Slightly hypercellular, eosinophilia	EMS	46,XX, t (8;9) (p11; q33) [7]/47, idem, +21 [13]	Interferon alpha	Alive, (>2 years) [14]
16/F/35	Hypercellular eosinophilia	EMS	46,XY, t(8;9)(p12;q33)	Hydroxyurea, Interferon alpha, Allo-HSCT	This study

Notes: MPN, myeloproliferative neoplasm; AML, acute myeloid leukaemia; EMS, 8p11 myeloproliferative syndrome; AMMoL, acute myelomonocytic leukaemia; Ph^- CML, Philadelphia-negative chronic myelogenous leukaemia. aCML, atypical chronic myelogenous leukaemia; HES, hypereosinophilic syndrome; ECL,eosinophilic chronic leukaemia; F, female; M, male; IMVP-16PL, ifosfamide, methotrexate, etoposide, cyclophosphamide, and dexamethasone; EPOCH, etoposide, doxorubicin, vincristine, cyclophosphamide, and dexamethasone; Allo-HSCT, allogeneic haematopoietic stem cell transplantation; DA, daunorubicin/cytarabine; INCB054828: a novel, highly selective FGFR kinase inhibitor; BHAC, N4-behenoyl-1-beta-D-arabinofuranosylcytosine; NA, not available; BMT, bone marrow transplant. GVHD, graft-versus-host disease; DNR, daunorubicin; Dex, dexamethasone; Ara-C, cytarabine; IDA, idarubicin; IM, imatinib; IA, idarubicin, cytarabine.

Figure 2. Kaplan–Meier survival analysis of 14 EMS patients with CEP110-FGFR1 fusions (Case 1 and 6 were excluded because of the absence of survival time).

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