혈액종양에서 관찰되는 무관성 클론의 염색체 이상
Cytogenetically Unrelated Clones in Hematologic Malignancies
0
조회
0
다운로드
0
인용
0
참고문헌
초록
배경 : 세포유전학적 무관성 클론(unrelated clones)은 연관성이 없는 비정상 핵형을 가진 클론들이 관찰되는 것을 의미한다.혈액 종양은 공통의 전구세포(committed progenitor cell)로부터기원하므로, 무관성 클론이 관찰되는 경우는 드물다. 저자들은 혈액 종양 질환에서 세포유전학적 무관성 클론이 관찰되는 빈도와임상적 의의를 알아보고자 하였다.방법 :1998년 6월부터 2003년 6월까지 이대목동병원에서 혈액종양으로 진단 받은 324명 환자를 대상으로 하였다. 이 중 급성골수구성백혈병 환자는 93명, 골수이형성증후군 27명, 만성골수구성백혈병 51명, 만성골수구증식성질환 38명, 급성혼합형백혈병 8명,급성림프구성백혈병 4명, 만성림프구성백혈병 9명, 다발성 골수종 40명, 골수 전이가 확인된 비호지킨 림프종 14명이었다.결과 : 세포유전학적 무관성 클론이 진단 당시에 관찰된 빈도는 0.9% ( 급성골수구성백혈병 1.1%, 만성림프구성백혈병 11.1%,다발성 골수종 2.5%)였다. 무관성 클론이 관찰되었던 환자의 핵형 결과는 다음과 같았다. 급성골수구성백혈병 add(11)(q23)/add(1)(p36.3); 만성림프구성백혈병 +12/del(13)(q22); 다발성골수종 +der(1)t(1;13)(p12;q12),-13/-X,+5,+7,-8,-12,-13,add(14)(q32),+15,-16,+19,-20,-22,-22이었다. 한 예는만성골수구성백혈병 환자로서 진단 당시에는 무관성 클론이 관찰되지 않았으나, imatinib mesylate로 치료 후 필라델피아 염색체가 음성인세포에서 trisomy 8의 무관성 클론이 관찰되었다. 결론 : 결론적으로 혈액 종양 환자에서 무관성 클론의 빈도는 외국의 보고와 유사한 0.9%였으며, 무관성 클론을 관찰하기 위해서는 추적 관찰시 분자생물학 검사 외에 염색체 검사도 포함되어야 할 것이다.
Abstract
Background : The origin of hematologic malignancies has been known to be monoclonal. In most cases, the same or obviously related chromosomal abnormliaties are found and cytogenetically unrelated clones are uncommon. We evaluated the prevalence and clinical significance of patients with cytogenetically unrelated clones in hematologic malignancies. Methods : Included in the study were 324 patients who had been diagnosed with the following hematologic malignancies at Ewha Womans University, Mokdong Hospital: AML (93 cases), MDS (27), CML (51), myeloproliferative disorder (38), acute biphenotypic leukemia (8), ALL (44), CLL (9), multiple myeloma (MM, 40), and Non-Hodgkin’s lymphoma with bone marrow involvement (14). Results : The overall prevalence of hematologic malignancies with cytogenetically unrelated clones at diagnosis was 0.9% (3/324). Of AML patients, 1.1% (1/93) had unrelated clones, CLL 11.1% (1/9), and MM 2.5% (1/40). The other hematologic malignancies did not show cytogenetically unrelated clones. The AML patient had add(11)(q23)/add(1)(p36.3); the CLL patient had +12/ del(13)(q22); and the MM patient had +der(1)t(1;13)(p12;q12),-13/-X,+5,+7,-8,-12,-13,add(14) (q32),+15,-16,+19,-20,-22,-22. We also detected an unrelated clone of trisomy 8 in Philadelphia chromosome negative cells from a CML patient who was treated with imatinib mesylate. Conclusions : Hematologic malignancies with cytogenetically unrelated clones are uncommon. This report highlights the importance of the conventional chromosomal analysis in that an unrelated clone in philadelphia chromosome negative cells may be detected in a CML case. (Korean J Lab Med 2004; 24: 189-93)
참고문헌 (20)
- "Cytogenetic stud-ies in neoplastic hematologic disorders . In:", pp.659~666 (2002), Lippincott Willimasand Wilkins
- "An international system for human cytogeneticnomenclature (1995)." (1995), Karger
- "Unrelatedclonal chromosome abnormalities in myelodysplastic syndromesand acute myeloid leukemias", 132, pp.156~158 (2002)
- "Cytogenetic polyclonality in hematologic malignancies", 24, pp.222~229 (1999)
- "Multiple unre-lated clones in myelodysplastic syndrome and in acute myeloidleukemia", 88, pp.141~143 (1996)
- "Karyotypically unre-lated clones in acute leukemias and myelodysplastic syndromes", 47, pp.171~8 (1990)
- "Cytogenetically unrelated clones in hema-tological neoplasms", 3, pp.6~8 (1989)
- "Cytogenetically unrelated clones in therapy-related myelodys-plasia and acute myeloid leukemia:experience from the Copenhagenseries updated to 180 consecutive cases", 23, pp.337~349 (1998)
- "Cytogenetic tri-clonality in acute myeloid leukemia:a morphologic,immunologicand in situ hybridization study", 72, pp.86~91 (1994)
- "Mixed lineage leukemia with cytogenetically unre-lated abnormal clones", 40, pp.83~7 (1989)
- "Apparently unrelated clones shown by spectral karyotypingto represent clonal evolution of cryptic t(10;11)(p13;q23) in a patientwith acute monoblastic leukemia", 120, pp.105~110 (2000)
- "Emergence of clonal cytogenetic abnormalities in Ph- cells in someCML patients in cytogenetic remission to imatinib but restoration ofpolyclonal hematopoiesis in the majority", 101, pp.1941~1949 (2003)
- "Cytogenetic biclonality in malig-nant hematologic disorders", 62, pp.25~8 (1992)
- "Emer-gence of karyotypically unrelated clone in remission of de novo acutemyeloblastic leukaemias", 89, pp.531~534 (1995)
- "Therapy-relatedmyelodysplastic syndrome.Two cytogenetically unrelated abnor-mal clones in a patient with multiple myeloma", 70, pp.117~9 (1993)
- "Clonal origin of Philadelphia chromosome negative cells withtrisomy 8 appearing during the course of -interferon therapy forPh positive chronic myelocytic leukemia", 81, pp.20~23 (1995)
- "Clonal Ph-negative hematopoiesis in CML aftertherapy with imatinib mesylate is frequently characterized by tri-somy 8", 16, pp.1390~1393 (2002)
- "Demonstration of Philadelphia chromosome negativeabnormal clones in patients with chronic myelogenous leukemia during major cytogenetic responses induced by imatinib mesylate", 17, pp.481~487 (2003)
- "Philadelphia chromosome-negative cells with trisomy 8 afterbusulfan and interferon treatment of Ph1-positive chronic myelogenousleukemia", 64, pp.73~77 (1996)
- "Emergence of new clonal abnormalities following interferonalphainduced complete cytogenetic response in patients with chronicmyeloid leukemia:report of three cases", 11, pp.767~771 (1997)