与B淋巴细胞增生障碍相关之7号染色体长臂中间缺失在血液肿瘤中频率相当高.pdf
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1、论著 The frequency of chromosome 7q interstitial deletions associated with B- cell lymphoproliferative disorders is substantially high among hematologi- cal malignancies Gary LU 1 ,John ZHANG2,Katherine PAUPER1 (1. Department of Pathology and Genetics,USLabs/ LabCorp,Irvine,California 91612,USA; 2. De
2、partment of Hematol- ogy/ Oncology,Quest Diagnostics/ Nichols Institute,San Juan Capistrano,CA 92692,USA) ABSTRACT Objective:To study the frequency of interstitial 7q deletions in B-cell lymphoproliferative disorders(B-LPDs) . Methods:Cases were collected from the clinical laboratory diagnosis datab
3、ase at USLabs/ LabCorp over the past two years(2002 to 2004) . Cases that showed deletions in the long arm of chromosome 7 were then reviewed. Interstitial deletions in the long arm of chromosome 7 were further in- vestigated according to the indications for clinical laboratory studies and flow cyto
4、metry findings. The final clinical diagnosis for each case was obtained from the referring physician. Results:A total of 19 483 ca- ses were included in this series. Eighty-five cases were observed to have either terminal or interstitial de- letion in the long arm of chromosome 7. Of the 85 cases,46
5、 had interstitial deletions accounting for 54. 1% of the 7q deletions combined. B-LPDs were found in 10 of the 46 cases,accounting for 21. 7%. The B-LPDs associated with 7q interstitial deletions were diverse,including B-cell chronic lymphocytic leukemia(B-CLL)in five cases. The deleted region in th
6、e long arm of chromosome 7 in the 10 cases as- sociated with B-LPDs was solely confined to the 7q22-q32 region. Conclusion: (1)The frequency of 7q interstitial deletions associated with B-LPDs is substantially high; (2)7q interstitial deletions are not un- common in B-CLL. KEY WORDS Chromosome delet
7、ion;Chromosomes,human,pair 7;Leukemia,B-cell,chronic;Flow cytometry Cytogenetic analyses play an important role in cancer patient care for diagnosis,treatment and prog- nostic evaluation,in particular for hematological malig- nancies including leukemia and lymphoma. Studies on chronic myeloid leukem
8、ia(CML)and B-cell lympho- cytic leukemia(B-CLL)have set model examples in the field of genomic medicine. The Philadelphia chromosome resulting from a translocation t (9; 22) (q34; q11. 2)associated with CML is the prototypical example in that accurate diag- nosis of CML at about 95% can be achieved
9、by testing for the specific t (9; 22)translocation 1, 2. The t (9; 22)results in the formation of a BCR/ ABL fusion gene. The current novel treatment employing imatinib (also named Gleevec) ,a selective inhibitor of BCR/ ABL,to induce major cytogenetic remission or com- plete cytogenetic remission i
10、n CML when used in the first chronic phase has opened a new era in genomic medicine for cancer patient care 3. Numerous studies on B-CLL have been conducted to look for the association of genomic aberrations with clinical outcome. Deletion in 11q/ ATM, 13q and 17p/ P53,trisomy 12,and 14q32/ IgH rear
11、rangement each in B-CLL has been correlated to clinical diagnosis and prognostic features 4 -6. 13q deletion in B-CLL is con- sidered a benign genetic marker. Patients with 13q de- letion usually have the best median survival time, whereas patients with 17p/ P53 deletion almost always need chemother
12、apy and often have the shortest median treatment-free interval. Together with monosomy 7,deletions in the long arm of chromosome 7 are the most common abnormali- ties in hematological malignancies and are usually viewed as markers for myeloid disorders 7 -9. About 10% of de novo myelodysplastic synd
13、rome(MDS)and acute myelogenous leukemia(AML)and about 50% of patients with therapy-related myeloid malignancies can be found to have the 7q deletions and monosomy 7 7 -9. In MDS,7q deletions are most common in RAEB/ RAEB-T,followed by CMML and RA.In AML,it is more frequently associated with M4 and M
14、5;however,it is not specific to these FAB subtypes. Furthermore,deletions of chromosome 7q are consid- ered as unfavorable prognostic factors.Studies have defined 7q22 as the common deleted region(CDR)in the 7q deletions associated with myeloid diseases 10. Recently,candidate tumor suppressor genes
15、mapped to the CDR,including FBXL13 and SVH,have been proposed 11, 12. Interstitial 7q deletions,a subset of 7q deletions, have recently been found to be associated with B-cell low-grade lymphoid malignancies,in particular splenic marginal zone lymphoma(SMZL) 13 -15. Correlation of narrow 7q deletion
16、s with specific subtype of B-cell low-grade lymphoid disorders have also been extensive- ly studied 16. However,the frequency of interstitial 7q deletions associated with B-cell lymphoproliferative disorders(B-LPDs)including low grade to high grade as the whole has not been well investigated . In th
17、is Corresponding author s e-mail,ghlu2003 yahoo. com 75 北京大学学报 (医学版) JOURNAL OF PEKING UNIVERSITY (HEALTH SCIENCES) Vol.38 No. 1 Feb. 2006 study,we analyzed the clinical cases with 7q deletions performed clinically at US Labs/ LabCorp from the past two years and found that interstitial deletions in
18、the long arm of chromosome 7 are substantially high in B- LPDs. 1 Patients and Methods Cases that showed deletions in the long arm of chromosome 7 were collected from the clinical database of 19 483 cases with hematological malignancies clini- cally performed in 2002 and 2004 at US Labs/ Lab- Corp.
19、Interstitial deletions in the long arm of chromo- some 7 were then further investigated according to the indications for cancer cytogenetics studies and the flow cytometry analysis results. All of the cases were evaluated with the MCIM test system including morphology evaluation,cytoge- netics study
20、,immunophenotyping,and molecular anal- ysis,if applicable,at the same facility at US Labs/ LabCorp. Each component of the MCIM test system was performed according the standard laboratory proto- cols established at US Labs/ LabCorp. The final clinical diagnosis for each case was pro- vided or confirm
21、ed by mail inquiry or telephone conver- sation with the referring physician. 2 Results The indication for studies in the 10 cases with in- terstitial 7q deletions and the patientsage and sex are listed in Table 1. B-CLL as an indication for studies was noted in six cases including one accompanied wi
22、th non-Hodgkin s lymphoma(NHL) ;NHL was the sole indication in two;Waldenstrom s macroglobulinnemia and low grade lymphoma each in one. Male to female ratio was 4 to 6. Patient age ranged from 54 to 89 years with a mean of 75. 8. Specimens in the ten cases in- cluded bone marrow in 6 and peripheral
23、blood in 4. Table 1 Clinical information in cases with 7q interstitial deletions Case no. Sample type Age (years) / sex Indication for study 1BM70/ FB-CLL/ Lymphocytosis 2BL54/ MB-CLL 3BM86/ FB-CLL 4BM51/ FNHL 5BL89/ FB-CLL 6BL84/ MNHL,B-CLL 7BM75/ FNHL 8BL86/ FB-CLL 9BM79/ MWaldenstrom s macroglobu
24、linnemia 10BM84/ MLow Grade Lymphoma BM,bone marrow;BL,peripheral blood;M,male;F,female;B- CLL,B-cell chronic lymphocytic leukemiaa;NHL,non-Hodgkin lym- phoma. The major suggestive findings by flow cytometry a- nalysis for the 10 cases of B-LPDs with interstitial 7q deletion are listed in Table 2. M
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