Transient extra copy of Y chromosome without driver mutation after autologous hematopoietic stem cell transplantation for acute myeloid leukemia: a case report and literature review

Figures & data

Figure 1. Karyotype, FISH, and bone marrow analysis during the appearance of the extra chromosome Y. (A) The karyotype analysis showed 47,XY,+Y. (B) FISH analysis showed that the centromere of Y (red signals) was copied while the centromere of X (green signals) was normal. (C) Bone marrow aspirate smear analysis showed slight dysplasia of the erythroid cells.

Table 1. Genetic and survival summary of the reported cases of chromosome abnormalities after auto-HSCT for AML.

Study	Age (years)	Sex	Primary karyotype	New clone after transplantation	Morphology	Status	Appearance time of clone after transplantation(months)	Survival	Follow-up time(months)
Shao et al. (2017)	13	Female	t(8;21)	inv(16)	t-AML	Disappeared after chemotherapy	10	Alive	NA
Imrie et al. (1998)	36	Female	NA	46,XX,del(8)(q12q22)[5]/ 46,XX, t(8;10)(q21;p12), del(20)(q11)[2]/46,XX[18]	no MDS or AML	Persistent	12	NA*	39***
	24	Female	NA	46,XX,del (20)(q13)[4]/ 46,XX[7]	no MDS or AML	Persistent	24	NA*
	21	Male	t(15;17)	46,XY,invdup(1)(q12q31)[4]/46,XY[9]	no MDS or AML	Persistent	7	NA*
	53	Male	46,XY	46,Y,del(X)(p11p22),inv(10) (q24q26),t(11;12)(q11;q21), ?t(11;19)(p15;p13)[5]/46,XY[7]	no MDS or AML	Persistent	21	NA*
	51	Female	46,XX	46,XX,-7,t(14;15) (q11.2;q26), +mar[3]/46,XX[7]	10% ringed sideroblasts**	Persistent	23	Alive*
	32	Male	t(15;17)	46,add(X)(p11),Y,add(1) (p36),add(2)(p25),del(3)(q23), del(5)(p13),add(19)(q13)[2]/46,XY[8]	no MDS or AML	Persistent	19	NA*
Lambertenghi Deliliers et al. (1999)	NA	NA	NA	Complex karyotype, including t(X;1), t(2;5), del(2;9)	no MDS or AML	Transient	3-12	NA	47***
	NA	NA	NA	Complex karyotype, including t(1;11), del (7;9), -21	no MDS or AML	Transient	3-12	NA
	NA	NA	NA	Complex karyotype, including add(4;9), del(6q), 12, add(12), add(18), +mar	no MDS or AML	Transient	3-12	NA
Our case	47	Male	−Y,t(8;21)	+Y	slight dysplasia	Transient	11	Alive	120

Notes: *represents not developing abnormal peripheral blood counts or developing AML; **represents not diagnosed with MDS; ***represents median follow-up time; NA, not available.

Shao H, Yang Q, Wu C, Cen J, Chen S, Pan J. 2017. Therapy-related acute myeloid leukemia with inv(16) after successful therapy for de novo acute myeloid leukemia with t(8;21). Ann Hematol. 96:2127–2129.

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Imrie KR, Dube I, Prince HM, Girouard C, Crump M, Keating A. 1998. New clonal karyotypic abnormalities acquired following autologous bone marrow transplantation for acute myeloid leukemia do not appear to confer an adverse prognosis. Bone Marrow Transpl. 21:395–9.

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Lambertenghi Deliliers G, Annaloro C, Pozzoli E, Oriani A, Dellavolpe A, Soligo D, Lambertenghi Deliliers D, Tagliaferri E, Bertolli V, Romitti L. 1999. Cytogenetic and myelodysplastic alterations after autologous hemopoietic stem cell transplantation. Leuk Res. 23:291–7.

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Data availability statement

The data that support the findings of this study are available in the figshare repository at https://doi.org/10.6084/m9.figshare.19233795.