A Novel Jumping Translocation of 12q21 in a Patient with Chronic Idiopathic Myelofibrosis

Hee Soon Cho; Myung Soo Hyun

doi:10.5045/kjh.2006.41.2.99

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Cho and Hyun: A Novel Jumping Translocation of 12q21 in a Patient with Chronic Idiopathic Myelofibrosis

Case Report

Korean J Hematol 2006;41(2):99-104.

Published online: 19 June 2006

DOI: https://doi.org/10.5045/kjh.2006.41.2.99

A Novel Jumping Translocation of 12q21 in a Patient with Chronic Idiopathic Myelofibrosis

Hee Soon Cho, M.D.¹, Myung Soo Hyun, M.D.^2,

¹Departments of Laboratory Medicine, Daegu, Korea

²Internal 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 25 April 2006 Revised 30 May 2006 Accepted 15 June 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

Jumping translocation (JT) has been defined as the translocation involving one donor chromosome and multiple recipient chromosomes in different cell lines in the same patient. This is rarely observed in various hematologic malignancies. Chronic idiopathic myelofibrosis (CIMF) is considered to be a clonal hematopoietic stem cell disorder, and clonal cytogenetic abnormalities have been reported to occur in about 30∼60% of patients. We report here on a case of CIMF with JT involving 12q21; t(5;12)(q13;q21) and t(12;12)(p13;q21) as the sole aberration. A pathogenetic relation between CIMF and the 12q rearrangement has been suggested in the literature, but neither the JT in CIMF nor the JT of 12q21 has been reported on. This is the first report of JT involving 12q21 in a patient with CIMF (ED note: nice writing).

Keywords: Jumping translocation, Chronic idiopathic myelofibrosis, 12q rearrangement

REFERENCES

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Fig. 1

Peripheral blood smear showed leukoerythroblastosis with dacryocytosis. (Wright stain, ×400)

Fig. 2

Bone marrow biopsy showed severe myelofibrosis (A) and marked increase of atypical megakaryocytes (B).

Fig. 3

The representative karyotypes showed 45,XY,t(5;12) (q13;q21),-22 (A, monosomy 22 was not clonal abnormality) and 46,XY,t(12;12)(p13;q21) (B).

Table 1.

Clinical and cytogenetic findings of the reported cases of myelofibrosis with balanced 12q rearrangement

No. case	Age/Sex	Cytogenetic abnormalities	Disease progress	Reference No.
1	68/F	46,XX,t(12;17)(q23;q21)[17]/47, XX,del(1)(p13),+ del(1)(p13),+ del(1)(q12),-13, der(15)t(13;15)(q12;q26)[2]/46,XX[1]	ND	6
2	43/M	t(4;12)(q33;q21)	Stable MF over 148 Months	7
3	75/M	t(5;12)(p14;q21)	Stable MF over 17 Months
4	67/F	t(1;12)(q22;q24)	Died due to progress to AML
5	57/M	t(12;17)(q24;q11)	Died due to progress to AML
6	65/F	Inv(12)(p12q24)	Died due to unrelated malignancy (ovarian ca)
7	58/M	t(7;12)(p11;q24)	Died
8	44/F	t(1;12)(p21;q12)	Stable MF over 7 Months
9	69/M	46,XY,t(4;12)(q31;q21)[22]	MF evolved from MDS	8
10	76/F	46,XX,t(1;12)(p31;q21)[10]	ND	9
11	78/F	46,XX,t(12;12)(q?;q?),del(13)(q12q14)[10]	ND
12	65/M	46,XY,t(4;12)(q26;q15),t(5;12)(q13;q24),del(7)(q22)	Progress to AML	10
13	64/M	46,XY,t(8;12)(p23;q21)[42%]/47,XY,+8[12%]/46,XY[40%]	ND	11
14	ND/M	46,XY,t(6;12)(q23;q13)[21]	ND	12
15	75/M	45,XY,der(2)t(2;6;15),der(6)t(2;6;15),-15[7]/46,XY,del(7)(p15),t(19;22)(p13;q13),-20[5]/46,XY,+8[4]/46,XY,t(12;17)(q23;q22)[2]/46,XY[2]	Stable MF over 88 Months	13
16	ND	t(7;12)(q22;q24.1)	ND	14
17	81/M	46,XY,t(5;12)(q13;q21)[7]/46,XY,t(12;12)(p13;q21)[3]/46,XY[10]	Stable MF over 159 Months	Present

Abbreviations: M, male; F, female; MF, myelofibrosis; MDS, myelodysplastic syndrome; AML, acute myeloid leukemia; ND, not described.

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