ETV6-PDGFRB 유전자 재배열을 동반한 필라델피아 염색체 유사 급성림프모구백혈병 1예: 증례 보고 및 문헌 고찰
A Case of Philadelphia Chromosome-like Acute Lymphoblastic Leukemia with ETV6-PDGFRB Gene Rearrangement: Case Report and Literature Review
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초록
B림프모구백혈병으로 진단된 경우, 관해유도요법에 효과가 미비할 경우 TKI 및 기타 추가 치료법의 도입 여부를 결정하거나, 골수/림프구성 종양에 특정 유전자 재배열이 동반된 림프모구성 위기와 Ph-like ALL을 감별하기 위해 FISH, RT-PCR을 포함한 세포, 분자유전학적 검사 결과의 신속한 보고가 중요하다. 저자들은 처음에 B-ALL로 진단받았지만 관해유도요법에 잘 반응하지 않았고, 추후 ETV6-PDGFRB 유전자 재배열이 확인되어 Ph-like ALL로 재진단하였고, 이에 따라 TKI와 blinatumomab을 추가하여 완전관해 달성을 경험하였던 사례를 문헌 고찰과 함께 보고하는 바이다.
Abstract
Rapid reporting of cytogenetic and molecular genetic test results is crucial for B-acute lymphoblastic leukemia (B-ALL) patients with poor responses to induction chemotherapy. Tests like FISH and reverse-transcriptase PCR (RT-PCR) aid in differential diagnosis between lymphoblastic crises of myeloid and lymphoid neoplasms with specific rearrangements and Ph-like ALL. These results help determine the need for additional therapies, such as tyrosine kinase inhibitors (TKI), based on the identified genetic and molecular characteristics. The authors report a case of a patient who was diagnosed initially with B-ALL but did not respond well to induction chemotherapy. Subsequently, the diagnosis was revised to Ph-like ALL due to the identification of ETV6-PDGFRB gene rearrangement. The patient achieved complete remission with the addition of TKI and blinatumomab. A review of the literature was also performed.
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