Triplication of 1q in a Patient with Myelodysplastic Syndrome

Hee Soon Cho; Min-Kyoung Kim; Myung Soo Hyun

doi:10.5045/kjh.2006.41.1.56

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Cho, Kim, and Hyun: Triplication of 1q in a Patient with Myelodysplastic Syndrome

Case Report

Korean J Hematol 2006;41(1):56-60.

Published online: 19 March 2006

DOI: https://doi.org/10.5045/kjh.2006.41.1.56

Triplication of 1q in a Patient with Myelodysplastic Syndrome

Hee Soon Cho, M.D.¹, Min-Kyoung Kim, M.D.², Myung Soo Hyun, M.D.^2,

¹Departments of Laboratory Medicine, Daegu, Korea

²Departments of Internal Medicine, Yeungnam University College of Medicine, Daegu, Korea

Correspondence to：Myung Soo Hyun, M.D. Department of Internal Medicine, Yeungnam University College of Medicine 317-1 Daemyeong-dong, Nam-gu, Daegu 705-717, Korea Tel: +82-53-620-3837, Fax: +82-53-654-8386 E-mail: hms@med.yu.ac.kr

Received 30 January 2006 Revised 3 March 2006 Accepted 10 March 2006

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Triplication of 1q is a very rare chromosomal abnormality in hematologic malignancies, and it has been related to Fanconi anemia. The clinical significance of this abnormality is unknown. We report here on a 55-year-old female patient who had myelodysplastic syndrome (refractory anemia with excess blasts) with triplication of 1q and trisomy 8 as the clonal cytogenetic abnormalities, as determined by bone marrow cytogenetic analysis. However, there were no clinical manifestations of Fanconi anemia or any chromosomal instability according to the peripheral blood chromosomal breakage testing. The patient developed early gastric carcinoma (poorly differentiated adenocarcinoma with a signet ring cell component) eight months later. She continuously had pancytopenia with dysplastic features, but this showed no evidence of evolving to leukemia or any relapse of the gastric carcinoma over a 2 year follow up.

Keywords: Triplication of 1q, Myelodysplastic syndrome, Fanconi anemia

REFERENCES

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Fig. 1

The bone marrow aspirate showed dysplastic features and increase of blasts (Wright stain, ×1,000).

Fig. 2

The representative karyotype of bone marrow shows 47,XX,trp(1)(q21q32),+8.

Fig. 3

The karyotype of peripheral blood shows normal female karyotype.

Table 1.

Clinical and cytogenetic findings of the reported cases with triplication 1q

No. Case	Age/ Sex	Hematologic diagnosis	Cytogenetic abnormalities	Follow-up	Reference No.
1	55/M	MDS (RAEB), transformed from ET	trp(1)(q21q32)[16]/dup(1)(q21q32)[4]	Died 2 yrs later due to transformation to AML	[3]
2	38/M	FA, MDS (RA)	trp(1)(q12q32),add(11)(p15),add(21)(q	Died of secondary infection q22)	[7]
3	52/M	MDS	trp(1)(q21q32)[32]/trp(1)(q21q32),+8[	[8] Alive for 8 yrs	[8]
4	14/M	ALL	14q+[8]/14q+,trp(1)(q11q21)[19]	Died 4 months later Died at age 17 due	[9]
5	17/M	FA	trp(1)(q12q32)[32]		[10]
				to sepsis
6	21/M	FA, MDS (RAEB)	trp(1)(q32q44),+mar	Died 10 months later du to transformation to A	ue ML [11]
7	ND	ALL	53,XX,+X,+6,+10,+17,+18,+21,+21[3]/53,idem,trp(1)(q21q42::q21q32::q21qter)[2]/53,idem,trp(1),?i(14)(q10)[2]	ND	[12]
8	ND	MM	47∼48,X,-Y,trp(1)(q21q32),der(1)?t(1;10)(p22;p11.2)trp(1),+add(3p),-6,del(7p),+del(7q),add(8?q),+del(9p),add(12p),+der(112)add(12q), -13,-13,der(14)t(6;14),+add(19?q)[cp6]	ND	[13]
9	ND	B-cell lymphoma, NOS	47,XY,+X[3]/50,XY,+X,+X,trp(1)(q21q +2,add(2p),+der(3;4),add(6p),+12 q32),add(1p),der(14;15)t(14;?),+18,i(21q),add(22p),+mar[cp16]	ND	[14]
10	55/F	MDS (RAEB)	trp(1)(q21q32)[21]/tri(1)(q21q32),+8[19]	Alive over 2 yrs	This case

Abbreviations: M, male; F, female; MDS, myelodysplastic syndrome; RA, refractory anemia; RAEB, refractory anemia with excess blasts; ALL, acute lymphoblastic leukemia; AML, acute myeloid leukemia; FA, Fanconi anemia; MM, Multiple myeloma; NOS, not otherwise specified; ND, not described.

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