Short communication
Deletion of chromosome arm 15q in a case of minimally
differentiated hypoplastic AML-M0
Atsushi Fujieda
a
, Masahiro Masuya
a,
*
, Shigehisa Kitano
a
, Kana Miyazaki
a
, Akira Yazaki
b
,
Yuka Sugimoto
a
, Eiji Usui
a
, Eri Miyata
a
, Tetsunori Shibasaki
a
, Kentaro Yamamura
a
,
Kohshi Ohishi
a
, Kazuhiro Nishii
a
, Kazunori Nakase
a
, Toshiaki Takeuchi
b
,
Naoyuki Katayama
a
a
Department of Hematology and Oncology, Mie University Graduate School of Medicine, 2-174 Edobashi, Tsu, Mie 514-8507 Japan
b
Department of Internal Medicine, Tohyama Hospital, Tsu, Mie, Japan
Received 26 December 2007; received in revised form 7 March 2008; accepted 18 March 2008
Abstract
Deletion of the long arm of chromosome 15 is known as a rare but recurrent chromosomal abnor-
mality in myeloid malignancies. We report a novel case of minimally differentiated hypoplastic
acute myeloid leukemia (AML M0) in a patient who initially had a normal karyotype, but clonal
interstitial deletion of chromosome 15, del(15)(q11.2q22), coincided with increment of leukemic
cells a year later. We also summarize 18 published cases with myeloid malignancies and this chro-
mosomal abnormality. Ó 2008 Elsevier Inc. All rights reserved.
1. Introduction
Minimally differentiated acute myeloid leukemia (AML-
M0) is a subtype of AML characterized by a negative cyto-
chemical myeloperoxidase reaction at light microscopic
level, expression of CD13 or CD33 (or both), and absence
of lymphoid markers [1e5]. Several reports have described
the cytogenetic features of AML-M0 [6e10]. Most of the ab-
normalities were unbalanced, and chromosomes 5, 7, 8, 11,
and 13 were frequently affected. In these abnormalities,
À5/5qÀ, À7/7qÀ, and trisomy 13 were highly associated
with AML M0 [7,9,10]. Furthermore, AML M0 was charac-
terized by a high incidence of complex aberrant karyotype.
To our knowledge, however, a clonal interstitial deletion of
the long arm of chromosome 15, del(15)(q11.2q22) has not
previously been reported in AML-M0.
Abnormalities of chromosome 15 are commonly ob-
served in AML. The most frequent aberration is
t(15;17)(q22;q21), which is specific for acute promyelo-
cytic leukemia (APL) and is associated with a favorable
prognosis. The retinoic acid receptor alpha gene (RARA)
on chromosome 17q21.1 is fused to the promyelocytic
leukemia gene (PML) on chromosome 15q22 in almost
all APL cases [11e15]. Other translocations involving
15q11~q13 and 15q13~q15 also have been noted in diffuse
large cell lymphomas and childhood acute lymphoblastic
leukemia, respectively [16,17]. On the other hand, a dele-
tion of the long arm of chromosome 15 (deletion 15q) oc-
curs infrequently in hematological malignancies. To date,
only 18 patients with myeloid malignancies and deletion
15q have been reported [18e27]. However, the exact bio-
logical significance of this chromosomal abnormality re-
mains obscure, with limited information in the literature.
Accumulation of data on deletion 15q might therefore ben-
efit the search for unknown genes involved in the pathogen-
esis of this type of myeloid malignancies.
2. Case report
A 70-year-old woman with a history of tuberculous
lymphadenitis during childhood was referred to the Hema-
tology and Oncology service at Mie University Hospital for
evaluation of leukocytopenia and anemia in July 2004. The
hematological parameters were as follows: hemoglobin
(Hb) 9.8 g/dL, platelet count 313 Â 10
9
/L, and white blood
cell (WBC) count 1.6 Â 10
9
/L (neutrophils 0.3 Â 10
9
/L,
lymphocytes 1.2 Â 10
9
/L). Bone marrow aspiration
* Corresponding author. Tel.:þ81-59-231-5016; fax: þ81-59-231-
5200.
E-mail address: mmasuya@clin.medic.mie-u.ac.jp (M. Masuya).
0165-4608/08/$ e see front matter Ó 2008 Elsevier Inc. All rights reserved.
doi:10.1016/j.cancergencyto.2008.03.010
Cancer Genetics and Cytogenetics 184 (2008) 57e61