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

• Jung SI
• Cho HS
• Lee CH
• Jung BC

• KMID: 1781663
• DOI: http://doi.org/10.3343/kjlm.2010.30.6.585

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.

Keyword

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

MeSH Terms

Bone Marrow Cells/cytology/pathology
Chromosome Deletion
Chromosomes, Human, Pair 1
Chromosomes, Human, Pair 19
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 9
Female
Fusion Proteins, bcr-abl/genetics/metabolism
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Middle Aged
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis/genetics
*Translocation, Genetic

Figure

• 

  Fig. 1. The bone marrow aspirates showed an increased number of small sized blasts with scanty cytoplasm and inconspicuous nucleoli (Wright stain, ×1,000).

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  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].

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  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).

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  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).

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  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.

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