Additional cytogenetic changes and previous genotoxic exposure
predict unfavorable prognosis in myelodysplastic syndromes
and acute myeloid leukemia with der(1;7)(q10;p10)
Hui-Hua Hsiao
a,d
, Goro Sashida
a
, Yoshikazu Ito
a
, Atsushi Kodama
b
, Katsuyuki Fukutake
b
,
Junko H. Ohyashiki
c
, Kazuma Ohyashiki
a,
*
a
The First Department of Internal Medicine,
b
Central Laboratory (Chromosome Unit), and
c
Intractable Immune System Research Center,
Tokyo Medical University, 6-7-1 Nishi-shinjuku, Shinjuku-ku, Tokyo 160-0023, Japan
d
Department of Internal Medicine, Kaohsiung Medical University Hospital, 100, Tz-You 1st Road, Kaohsiung 807, Taiwan
Received 23 August 2005; received in revised form 10 September 2005; accepted 12 September 2005
Abstract
We analyzed 23 patients with myelodysplastic syndromes (MDS) and acute myeloid leukemia
(AML) showing a der(1;7)(q10;p10) [hereafter der(1;7)] to identify the exact predictive factor of
this cytogenetic change. Eight (34.8%) patients, including six with MDS and two with AML
patients, had a previous history of genotoxic exposure, especially radiation and/or antimetabolites.
Patients with der(1;7) consisted of three groups: one third of patients had a previous history of
genotoxic agents, one third had additional cytogenetic changes at the time of MDS/AML diagnosis
without previous exposure history, and the remaining one third had neither a previous exposure
history nor additional cytogenetic changes. The current study demonstrated that the poor outcome
of MDS/AML with der(1;7) is caused by the high frequency of associated risk factors (i.e., previous
history of genotoxic exposure, the presence of additional cytogenetic changes, or both). Identifica-
tion of prognostic disadvantage might be required for applying the appropriate strategy in managing
MDS/AML patients with rare der(1;7) abnormality. Ó 2006 Elsevier Inc. All rights reserved.
1. Introduction
Chromosome 7 abnormalities (–7/7q–) are the most com-
mon chromosome changes in myelodysplastic syndromes
(MDS) and acute myeloid leukemia (AML), especially in sec-
ondary MDS and AML [1–4]. Nonetheless, the unbalanced
translocation of chromosomes 1 and 7, der(1;7)(q10;p10)
[hereafter der(1;7)], which results in trisomy 1q and mono-
somy 7p, is relatively rare in MDS and/or AML with cytoge-
netic abnormalities [5–7]. This abnormality was first reported
by Geraedts et al. [8], and other investigators also confirmed
this as a nonrandom abnormality in myeloid disorders, some-
times found to be therapy related [9–11]. The abnormality
appears to be associated with dysplastic features in the mar-
row and poor prognosis [11–15]: the International Prognostic
Scoring System (IPSS) for MDS adopted an abnormality of
chromosome 7, including der(1;7), as one of the poor cytoge-
netic indicators [16]. Although some MDS cases with der(1;7)
were actually therapy related and had unfavorable prognoses,
the exact clinico-hematologic features are not fully under-
stood because the number of patients with der(1;7) is still
small. In this report, we analyzed 23 MDS/AML patients with
der(1;7) from a single institution to attempt to evaluate the
prognostic impact of this abnormality.
2. Materials and methods
2.1. Patients
From 1988 to 2004, a total of 27 patients with der(1;7)
were detected in chromosome examinations in our hospital.
Among them, four patients with chronic myeloproliferative
disorders with der(1;7) were excluded from this study and
will be discussed elsewhere [17]. A total of 23 cases,
including 19 MDS patients (3.7% 5 19/515 total MDS
patients) and 4 AML patients (1.6% 5 4/244 total AML
patients), were eligible and all gave their informed consent
to enroll in the study. Clinical data, past history, treatment
protocol, response status, and follow-up duration were
* Correspondingauthor. Tel.: 181-3-3342-1510; fax: 181-3-5381-6651.
E-mail address: ohyashik@rr.iij4u.or.jp (K. Ohyashiki).
0165-4608/06/$ – see front matter Ó 2006 Elsevier Inc. All rights reserved.
doi:10.1016/j.cancergencyto.2005.09.003
Cancer Genetics and Cytogenetics 165 (2006) 161–166