CASE REPORT

Translocation t(X;10)(p10;p10): a rare chromosomal abnormalityin a new born female with acute myeloid leukemia

Ayda Bennour • Halima Sennana • Monia Zaier •

Ines Ouahchi • Zannouba Mrad • Yosra Ben Youssef •

Abderrahim Khelif • Ali Saad

Received: 7 March 2011 / Accepted: 9 March 2011 / Published online: 26 March 2011

� Springer Science+Business Media, LLC 2011

Abstract Sex chromosomes are infrequently involved in

patients with hematologic malignancies. In most instances,

the abnormality is either duplication in the q arm or dele-

tion and translocation involving the q13 and q24 regions.

We report herein a rare translocation t(X;10)(p10;p10) in a

newborn with 2 months and 20 days with acute myeloid

leukemia (AML) (FAB, M4). Cytogenetic analysis detec-

ted a cell clone with t(X;10)(p10;p10). Thus was confirmed

by FISH analysis with whole chromosome painting (WCP)

specific for chromosomes X and 10. The patient was

treated with chemotherapy, and a complete morphologic

and cytogenetic remission was achieved. To our knowl-

edge, our case is the first report of a neonatal AML4 with

t(X; 10). The patient had an excellent early response to a

salvage AML-type therapy. The prognostic significance of

the t(X; 10) in this setting remains unclear. Due to the

rarity of this translocation, further cytogenetic and molec-

ular biologic studies are required to elucidate the clinical

and molecular significance of this unusual karyotypic

finding.

Keywords Acute myeloid leukemia � Sex chromosome

abnormality � t(X;10)(p10;p10) � Neonatal AML 4 �Fluorescence in situ hybridization �Whole chromosome painting

Introduction

Sex chromosomes are involved uncommonly in karyotypic

aberrations in patients with hematologic malignancies.

A loss of chromosome Y, monosomy or trisomy X is

occasionally found in these patients [1]. However, struc-

tural abnormalities involving chromosome X are unusual in

hematologic neoplasia. In the literature, chromosomal

aberrations involve deletion, duplication, or translocation

of the long arm of chromosome X.

Translocation t(X;10)(p10;p10) is a rare occurrence in

pediatric leukemia of unclear prognostic significance [2].

We report herein such a translocation in a patient with

acute myeloid leukemia (AML).

Case report

A newborn with 2 months and 20 days presented with

acute leucosis and fever 40�C.

After admission to the pediatric department, her clinical

examination revealed splenomegaly but no hepatomegaly.

Peripheral blood examination revealed hemoglobin 10 g/dl,

platelets 102 9 109/l, and leukocytes 207 9 109/l with 4%

neutrophils, 14% lymphocytes, 15% monocytes, and 60%

blast cells.

Bone marrow examination showed hypercellular mar-

row infiltrated with blast cells with 23% myeloblasts and

43% monoblasts.

The myeloblast cells were cytochemically positive for

myeloperoxidase and the monoblast cells were faintly

positive.

A diagnosis of acute myelomonocytic leukemia was

made (FAB type 4). The patient was treated with

A. Bennour (&) � H. Sennana � I. Ouahchi � Z. Mrad � A. Saad

Department of Cytogenetics, Molecular Genetics

and Reproductive Biology, Farhat Hached University

Teaching Hospital, Sousse, Tunisia

e-mail: aydabennour@yahoo.fr

M. Zaier � Y. Ben Youssef � A. Khelif

Department of Clinical Hematology, Farhat Hached University

Teaching Hospital, Sousse, Tunisia

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Med Oncol (2012) 29:1134–1136

DOI 10.1007/s12032-011-9908-x

Aracytine-C (60 mg/day) for 7 days and with Fludarabine

(3.5 mg/day) for 3 days.

Five weeks later, bone marrow examination revealed

decreased cellularity with 6% of blast cells.

The patient was then treated with Aracytine-C

1,800 mg/day and Amsacrine 30 mg/day for 3 days, fol-

lowed by Aracytine-C (60 mg/day) and Rubidomycine

12.5 mg/day for 4 days and subsequently Aracytine-C

(1,800 mg/day) and Kidrolase 1,900 IU/day for two days.

A complete morphologic and cytogenetic remission was

achieved after these cycles of chemotherapy, which she

tolerated very well. Her latest peripheral blood examina-

tion revealed hemoglobin 4.8 g/dl, platelets 185 9 109/l,

and leukocytes 2.6 9 109/l with 51% neutrophils and 44%

lymphocytes.

Cytogenetic studies

Karyotypic analyses were performed by overnight cultures

of bone marrow samples. Metaphase chromosomes were

R-banded and karyotyped according to the recommenda-

tions of the International System for Human Cytogenetic

Nomenclature (ISCN) [3].

FISH studies

Fluorescence in situ hybridization (FISH) analysis with

whole chromosome painting (WCP) was performed for

chromosomes X and 10 (Vysis, IL, Downers Grove, USA).

Metaphases were viewed with a Zeiss epifluorescence

microscope and analyzed using Cytovision software 3.6

(Applied Imaging).

Results

At diagnosis, the patient showed an abnormal cell clone

with a balanced translocation between X and 10 chromo-

somes with breakpoints, respectively, at Xp10 and 10p10:

46,X,t(X;10)(p10;p10) [17](Fig. 1), in addition to a normal

cell clone of 46,XX[10].

Fluorescence in situ hybridization analysis with WCP X

and WCP 10 disclosed an exchange between chromosomes

X and 10, and confirmed the reciprocal translocation

t(X;10) (Fig. 2).

After treatment, cytogenetic analysis, revealed a normal

female karyotype in 20 metaphases.

Discussion

Sex chromosomes are infrequently involved in chromo-

somal aberrations in patients with hematologic malignan-

cies [1]. Structural abnormalities of the chromosome X in

acute leukemia are described in very few reports [2] In

most instances, the abnormality is either duplication of the

Xq arm or deletion and translocation involving the Xq13

and Xq24 regions [2].

Translocation t(X;10)(pl0;pl0) has been rarely reported

in acute leukemia of myeloblastic or monoblastic lineage

Fig. 1 Karyotype of the

abnormal cell clone:

46,X,t(X;10)(p10;p10)

Med Oncol (2012) 29:1134–1136 1135

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[4]. In the reported cases, it appears to coincide with the

emergence of the myeloid clone, and in some cases,

additional cytogenetic changes involving deletion (5q),

monosomy 7, or trisomy 8 tend to occur together with this

abnormality [4].

A review of the literature and the Mitelman Database of

Chromosome Aberrations in Cancer [5] showed four pre-

vious reports of a similar translocation t(X;10) in childhood

AML [6–9]. The first case was a 2-year-old girl with AML-

M1 and t(X;10)(p11;p11) who had a relapse-free survival

of 7 months until the time of report [6]. The second child

was a 14-year-old boy with a morphologically FAB-M1

peroxidase positive acute leukemia. The patient was treated

successfully with an acute lymphoblastic leukemia (ALL)-

type protocol and bone marrow transplant [7]. The third

patient had therapy-related AML after exposure to etopo-

side (cumulative dose, 9.9 grams/m2), which was previ-

ously given as part of ALL therapy [8], and the fourth

patient was a pediatric 15-year-old girl with a secondary

AML with t(X; 10) arising after chemotherapy for Ewing’s

sarcoma, the patient had an excellent early response to a

salvage AML-type therapy [9].

Translocation t(X;10)(p10;p10) has also been reported

in two adult patients with acute leukemia, one with acute

monocytic leukemia and the other with a myeloid relapse

of a bilineage leukemia [4]. Moreover, translocation

t(X;10)(p11;q11) has also been described in a case of

therapy-related AML-M5, [10] and in a premature girl with

congenital acute monocytic leukemia [11].

To our knowledge, translocation involving the whole p

arms of chromosomes X and 10, has only been reported in

6 cases [4, 6–9].

In our case, the karyotype disclosed clearly the break-

points implicated on Xp and 10p arms, concerned in

t(X;10). According to ISCN, the karyotype should be

assigned as t(X;10)(pl0;pl0). Furthermore, FISH experi-

ments with whole chromosome paintings were performed

for the first time to confirm this translocation.

This study, further confirms the observation that t(X;10)

is a recurrent chromosomal abnormality involving acute

leukemia of myeloid lineage. To the best of our knowledge,

our case is the first report of a neonatal AML4 with t(X;

10). Although the patient had an excellent early response to

a salvage AML-type therapy, the prognostic significance of

the t(X; 10) in this setting remains unclear. Due to the

rarity of this translocation, further cytogenetic and molec-

ular biologic studies are required to elucidate the clinical

and molecular significance of this unusual karyotypic

finding. Additional reports of similar cases or from larger

registries may help in understanding its association with

clinical presentation and outcome.

Acknowledgments This work was supported by the Ministry of

Health and the Ministry of Scientific Research and Biotechnology of

Tunisia.

References

1. Mitelman F, Kaneko Y, Trent J. Report of the committee on

chromosome changes in neoplasia. Cytogenet Cell Genet.

1991;58:1053–79.

2. Werner-Favre C, Beris P, Engel E. X chromosome rearrange-

ments and leukemia. Cytogenet Cell Genet. 1985;39:80.

3. ISCN An international system for human cytogenetic nomen-

clature. In: Shaffer LG, Tommerup N, editors. Karger.

4. Wong KF, Hayes KJ, Huh YO, et al. Translocation

(X;10)(p10;p10) a rare but nonrandom chromosomal abnormality

in acute leukemia of myeloid differentiation. Cancer Genet

Cytogenet. 1996;86:153–5.

5. Mitelman F, Johansson B, Mertens F (eds) Mitelman Database of

Chromosome Aberrations in Cancer (2007). Available at:

http://www. cgap.nci.nih.gov/Chromosomes/Mitelman. Accessed

on June 1 (2007).

6. Heim S, Bekassy AN, Garwicz S, et al. Bone marrow karyotypes

in 94 children with acute leukemia. Eur J Haematol.

1990;44:227–33.

7. Lelong F, Chretien P, Jouault H, et al. A case of peroxidase-

positive acute leukaemia expressing only T lineage lymphoid

markers. Br J Haematol. 1994;86:195–7.

8. Winick NJ, McKenna R, Shuster J, et al. Secondary acute mye-

loid leukemia in children with acute lymphoblastic leukemia

treated with etoposide. J Clin Oncol 1993;11: 209–17.

9. Abla O, Dror Y, Shago M. Translocation (X;10) in a child with

therapy-related acute myeloid leukemia following chemotherapy

for Ewing’s Sarcoma. Cancer Genet Cytogenet. 2007;178:168–9.

10. Ackland SP, Westbrook CA, Diaz MO, et al. Evidence favoring

lineage fidelity in acute nonlymphocytic leukemia: absence of

immunoglobulin gene rearrangements in FAB types M4 and M5.

Blood. 1987;69:87–91.

11. Weiss J, De Vito V, Allen L, et al. Translocation X;10 in a case of

congenital acute monocytic leukemia. Cancer Genet Cytogenet.

1985;16:357–64.

Fig. 2 Fluorescence in situ hybridization using whole chromosome

paint probes for chromosomes X (red) and 10 (green) disclosed a

reciprocal translocation between chromosomes X and 10

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