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Abstract
Background:
Although the pericentric inversion of chromosome 9, inv(9)(p11q13), is generally considered a normal variation, it is also associated with solid tumors and several hematologic malignancies such as biphenotypic acute leukemia, ALL, AML, and myeloproliferative neoplasms. However, to the best of our knowledge, there have been no reports that suggest an association between CML and constitutional pericentric inversion of chromosome 9. The purpose of this retrospective study was to investigate the frequency and clinical features of CML patients with concomitant inv(9) and t(9;22)(q34;q11.2) variation at our institution.
Methods:
We reviewed the bone marrow chromosome database entries between October 2006 and December 2008 to identify patients with concomitant inv(9) and t(9;22) variations. Laboratory and clinical data of the patients were obtained from the electronic medical record system.
Conclusions:
Although the association between inv(9) variation and CML is still controversial, we believe that hematologists should consider the role of constitutional inv(9) variation in CML patients to avoid overlooking the impaired engraftment potential of hematopoietic stem cells harboring inv(9). Therefore, we suggest that more effort should be invested to develop cytogenetic tests for detecting constitutional inv(9) variation in CML patients.
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Fig. 1.
The full karyogram of bone marrow cells of patient 1 is as follows: 46,XY,inv(9)(p11q13)c,t(9;22)(q34;q11.2). The bold arrow denotes inv(9)(p11q13) and the single arrows denote t(9;22)(q34;q11.2).
Fig. 2.
Multiplex reverse transcriptase-PCR (RT-PCR) was performed using Seeplex Leukemia BCR/ABL kit (Seegene, Seoul, Korea). Lane M, molecular marker provided by manufacturer; Lane 1, sample from Patient 1 (b3a2 type); Lane 2, negative control; Lane 3, sample from Patient 3 (b2a2 type); Lane 4, positive control (e1a2 type); Lane 5, RT-PCR product of b2a2/e1a2 as a positive control; Lane 6, blank; Lane L, molecular size marker (100-bp ladder). Target and amplicon sizes are as follows: internal control (600 bp), b3a2 (476 bp), b2a2 (401 bp), and e1a2 (348 bp).
Fig. 3.
The partial karyogram of bone marrow cells of patients 2, 3, and 4. The bold arrows denote inv(9)(p11q13) and the single arrows denote t(9;22)(q34;q11.2).
Table 1.
Reported cases of concomitant inv(9) and t(9;22) variations in Ph+ leukemia patients
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