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Jung, Cho, Lee, and Jung: A Case of Adult B Lymphoblastic Leukemia with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3)
Case Report

Korean J Leg Med 2010;30(6):585-590.

Published online: 14 January 2010

DOI: https://doi.org/10.3343/kjlm.2010.30.6.585

A Case of Adult B Lymphoblastic Leukemia with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3)

Soon Il Jung, M.D.1, Hee Soon Cho, M.D.1, Chae Hoon Lee, M.D.1, Bo-Chan Jung, M.D.2

1Department of Laboratory Medicine, Yeungnam University College of Medicine, Daegu, Korea

2Department of Laboratory Medicine, Gumi CHA General Hospital, Pochon CHA University College of Medicine, Gumi, Korea

Corresponding author: Hee Soon Cho, M.D. Department of Laboratory Medicine, Yeungnam University College of Medicine, 317-1 Daemyeong-dong, Nam-gu, Daegu 705-717, Korea Tel: +82-53-620-3633, Fax: +82-53-620-3297 E-mail: chscp@ynu.ac.kr

∗ This research was supported by the Yeungnam University research grants in 2009.

      Revised 18 March 201017 August 2010       Accepted 13 October 2010

Copyright © 2010 Korean Society for Legal Medicine

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

In B lymphoblastic leukemia/lymphoma (B-ALL/LBL), t(9;22)(q34;q11.2) and t(1;19)(q23;p13.3) are recurrent cytogenetic abnormalities. The concurrent occurrence of both abnormalities is very rare, and only 3 cases have been previously reported. Here, we report a case of adult B-ALL with ider(9)(q10)t(9;22)(q34;q11.2) and der(19)t(1;19)(q23;p13.3). A literature review revealed that ider(9) (q10)t(9;22) is a rare variant of t(9;22) with a deletion of the short arm of chromosome 9. Fifteen cases of ider(9)(q10)t(9;22) have been reported. This abnormality is specific to precursor B-lymphoid neoplasms, such as B-ALL or B-lymphoid blast phase of CML, and is associated with disease progression or short survival. The cytogenetic abnormality t(1;19) is also specific to B-ALL. In most instances of t(1;19), TCF3 is fused to PBX1; however, a few cases have identical translocations but no TCF3-PBX1 fusion, as was observed in our patient. We describe the first case of ider(9)(q10)t(9;22) in combination with TCF3-PBX1 negative t(1;19). The patient underwent imatinib therapy in addition to intensive chemotherapy, but failed to achieve remission.

Keywords: Recurrent cytogenetic abnormalities, B lymphoblastic leukemia, ider(9)(q10)t(9;22), der(19)t(1;19)

REFERENCES

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Fig. 1.
The bone marrow aspirates showed an increased number of small sized blasts with scanty cytoplasm and inconspicuous nucleoli (Wright stain, ×1,000).
kjlm-30-585f1.tif
Fig. 2.
Reverse transcriptase PCR demonstrated major BCR-ABL1 gene rearrangement (b3a2) [Lane M, size marker (includes markers for the 600-bp internal control, 476-bp b3a2 fusion transcript, 401-bp b2a2 fusion transcript, and 348-bp e1a2 fusion transcript); lane 1 and 3, negative patients; lane 2, our patient; lane 4, positive control with b2a2 and e1a2 fusion transcripts, provided by the manufacturer].
kjlm-30-585f2.tif
Fig. 3.
The representative full karyogram (A) and partial karyogram (B) showed 46,XX,ider(9)(q10)t(9;22)(q34;q11.2),del(9)(q10),der(19)t(1;19)(q23;p13.3),der(22)t(9;22).
kjlm-30-585f3.tif
Fig. 4.
(A) FISH using the BCR/ABL1 dual color dual fusion translocation probe at relapse. One green signal represents the normal chromosome 22, and 3 fusion signals are seen. Loss of red signal is consistent with deletion of the long arm of normal chromosome 9. (B) FISH using the TCF3/PBX1 dual color dual fusion translocation probe at relapse showed 1 green and 3 red signals with no fusion signal. (C) FISH using the BCR/ABL1 dual color dual fusion translocation probe at initial diagnosis. Fusion signals are demonstrated on der(22) and both arms of ider(9). (D) FISH using the TCF3/PBX1 dual color dual fusion translocation probe at initial diagnosis. Fusion signal is not observed on der(19).
kjlm-30-585f4.tif
Fig. 5.
Multiplex nested reverse transcriptase PCR using a Hema-Vision kit. The 911-bp bands in each lane represent internal controls. The 472-bp band seen in lane 6 of the screening PCR and lane 2 of the split-out M6 PCR represents the BCR/ABL1 b3a2 transcript. The TCF3/PBX1 transcript is not seen in either the screening or the split-out M3 PCR.
kjlm-30-585f5.tif
Table 1.
Clinical and cytogenetic findings of the reported cases of ider(9)(q10)t(9;22)(q34;q11.2)
Case No. Gender/Age Diagnosis Karyotype Ref. No.
1 F/63 c-ALL 46,XX,idic(9)(p13)t(9;22)(q34;q11.2),der(22)t(9;22)/46,XX [3]
2 M/16 ALL 46,XY, ider(9)(q10)t(9;22)(q34;q11),der(22)idic(p13)t(9;22) [4]
3 M/30 c-ALL 46,XY,add(1)(p36),ider(9)(q10)t(9;22)(q34;q11),add(12)(p13),add(16)(p13),der(22)t(9;22)[8] /46,XY[2] [5]
4 M/53 c-ALL 46,XY,t(9;22)(q34;q11)[4]/45,XY,-7,i(8)(q10),ider(9)(q10)t(9;22),der(22)t(9;22)[32]/46,XY[5] [6]
5 M/31 c-ALL 46,XY,ider(9)(q10)t(9;22)(q34;q11),der(22)t(9;22)[23]/46,XY[4]  
6 ND ALL (B) 46,XX,ider(9)(q10)t(9;22)(q34;q11),der(22)t(9;22) [7]
7 ND ALL (B) 47,XY,+8, ider(9)(q10)t(9;22)(q34;q11),der(22)t(9;22)/48,idem,+mar  
8 M/12 c-ALL 46,XY,ider(9)(q10)t(9;22)(q34;q11),der(22)t(9;22)[19]/48,XY,t(9;22),+21,+der(22)t(9;22)[1] [8]
9 F/3 preB-ALL 46,XX,t(9;22)(q34;q11)[3]/47,idem,+X[6]/46,XX, ider(9)(q10)t(9;22),der(22)t(9;22)[4] /46,XX[12] [9]
10 F/26 ALL (B) 46,XX,ider(9)(q10)t(9;22)(q34;q11.2),der(22)t(9;22)[10]/46,XX[10] [10]
11 F/26 CML, lymphoid BP 46,XX,t(9;22)(q34;q11)[9]/45,XX,-7,ider(9)(q10)t(9;22),der(22)t(9;22)[3]/46,XX[8] [11]
12 M/34 CML, BP 46,XY,t(9;22)(q34;q11)[2]/46,XY,ider(9)(q10)t(9;22),der(22)t(9;22)[5] [12]
13 F/58 CML, B lymphoid BP 46,XX,t(9;22)(q34;q11)/45,XX,-7,ider(9)(q10)t(9;22),der(22)t(9;22)/46,XX [13]
14 M/30 CML, B lymphoid BP 46,XY,t(9;22)(q34;q11)[6]/46,XY,ider(9)(q10)t(9;22),der(22)t(9;22)[9]/47,XY,+8,ider(9)(q10)t(9;22),der(22)t(9;22)[5] [5]
15 M/42 CML, B lymphoid BP 46,XY,t(9;22)(q34;q11.2)[12]/46,XY,ider(9)(q10)t(9;22),der(22)t(9;22)[10]/45,XY,-9,der(22)t(9;22)[3] [14]
16 F/45 ALL (B) 46,XX,ider(9)(q10)t(9;22)(q34;q11.2),del(9)(q10),der(19)t(1;19)(q23;p13.3),der(22)t(9;22)[20] This case

Abbreviations: Ref, reference; F, female; M, male; c-ALL, common ALL; ALL (B), B-lineage ALL; BP, blast phase.

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