t(16;21)(p11;q22) 및 TLS/FUS-ERG 접합 전사체를 동반한 급성골수백혈병 2예
Two Cases of Acute Myeloid Leukemia with t(16;21)(p11;q22) and TLS/FUS-ERG Fusion Transcripts
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초록
급성골수백혈병과 연관된 염색체 이상은 t(8;21), t(15;17), inv(16), t(9;11), t(9;22)와 t(6;9) 등을 포함하여 많이 알려져 있 다. 급성골수백혈병에서 t(16;21)(p11;q22)는 흔하지 않은 염색 체 이상으로, 나쁜 예후, 젊은 발병 나이, 다양한 FAB 분류에서 의 발병 등의 특징을 보인다. 저자들은 전통적인 세포유전학적 방법 또는 reverse transcription-PCR (RT-PCR)로 검증된 t(16;21)(p11;q22)를 동반한 급성골수백혈병 환자 2명을 보고하 였다. 두 증례 모두에서 백혈병 세포에 의한 적혈구포식(erythrophagocytosis) 이 관찰되었다. 첫 번째 환자는 24세의 남자 로 급성골수단구백혈병으로 진단되었고, 골수 염색체 검사에서 46,XY,t(16;21)(p11; q22),del(18)(p11.2)의 핵형을 보였으며, RTPCR에서 TLS/ FUS-ERG 접합 전사체 양성이었다. 이 환자는 첫 번째 관해 후 동종 말초혈조혈모세포이식을 받았으나, 재발 및 이식편대숙주 반응이 발생하여 최초 진단 후 9개월 만에 사망 하였다. 다른 한 명은 72세 남자 환자로 미분화형급성골수백혈병 으로 진단받았고, 골수 염색체 검사상 45,XY,-16,add(21)(q22) 를 보였으나, RT-PCR에 의해 t(16;21)(p11;q22)가 있음을 확인 할 수 있었다. 이 환자는 치료를 시작하기 전 다른 병원으로 전원 되어 더 이상 추적 관찰할 수 없었다. 적혈구포식을 동반한 AML 환자에서는 t(16;21)(p11;q22)의 존재를 의심해야 하고, 필요한 경우 RT-PCR로 TLS/FUS-ERG 접합 전사체 유무와 유형을 확인해야 한다.
Abstract
Many AML-associated chromosomal abnormalities, such as t(8;21), t(15;17), inv(16), t(9;11), t(9;22) and t(6;9) are well known. The chromosomal aberration of t(16;21)(p11;q22) in AML is rare and it is known to be associated with poor prognosis, young age (median age, 22 yr), and involvement of various subtypes of the French-American-British classification. We report here 2 AML patients with t(16;21)(p11;q22), proved by conventional cytogenetics and/or reverse transcription (RT)-PCR. Erythrophagocytosis by leukemic blasts was observed in both of the cases. One patient was a 24 yr-old male with acute myelomonocytic leukemia. His karyotype was 46,XY,t(16;21)(p11;q22),del(18)(p11.2) and RT-PCR revealed the TLS/FUS-ERG fusion transcripts. Although he received allogeneic peripheral blood stem cell transplantation after the first remission, he died 9 months after the initial diagnosis due to relapse of the disease and graft-versus-host disease. The other patient was a 72 yr-old male with acute myeloid leukemia without maturation. His karyotype was 45,XY,-16,add(21)(q22) and the presence of t(16;21)(p11;q22) was detected by RT-PCR. He was transferred to another hospital with no more follow-up. We suggest that the presence of t(16;21)(p11;q22) and/or TLS/FUSERG fusion transcripts has to be considered in cases of AML with erythrophagocytosis.
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