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Interphase FISH for Y chromosome, VNTR polymorphisms, and RT-PCR for BCR-ABL in the monitoring of HLA-matched and mismatched transplants

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CANCER GENETICS AND CYTOGENETICS 2000年第1期120卷 25-29页

作者： Crescenzi, B Fizzotti, M Piattoni, S La Starza, R Matteucci, C Carotti, A Aversa, F Martelli, MF Mecucci, C Univ Perugia Hematol & Bone Marrow Transplantat Unit Monteluce Policlin I-06123 Perugia Italy Univ Perugia IMISO I-06123 Perugia Italy

Thirty-six sex-mismatched transplants were studied using fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) methods. Molecular cytogenetics was performed using interphase FISH with a centromeric probe for chromosome Y, and PCR amplification was performed with a set of VNTR microsatellite loci. In addition, reverse transcriptase-PCR (RT-PCR) for BCR-ABL fusion was used to investigate cases of Philadelphia chromosome (Ph)-positive chronic myeloid leukemia mia (CML) and acute lymphoblastic leukemia (ALL). Our integrated approach of post-transplant monitoring was helpful in documenting successful transplants and in controlling the size of Ph-positive clones in CML. A striking overlap was found between results from FISH analysis and PCR for polymorphic loci. (C) 2000 Elsevier Science Inc. All rights reserved.

关键词：骨髓移植融合蛋白质类 bcr-abl/遗传学 HLA抗原造血干细胞移植组织相容性原位杂交荧光白血病髓系慢性 BCR-ABL阳性/遗传学白血病髓系慢性 BCR-ABL阳性/治疗小卫星重复多态现象遗传前体细胞淋巴母细胞白血病淋巴瘤/遗传学前体细胞淋巴母细胞白血病淋巴瘤/治疗逆转录聚合酶链反应 Y染色体青少年成年人儿童女(雌)性人类男(雄)性中年人

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Trisomy 5 as a sole cytogenetic abnormality in pediatric acute lymphoblastic leukemia

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CANCER GENETICS AND CYTOGENETICS 2000年第1期118卷 69-71页

作者： Sandoval, C Mayer, SP Ozkaynak, MF Tugal, O Jayabose, S New York Med Coll Dept Pediat Valhalla NY 10595 USA

We describe a case of pediatric acute lymphoblastic leukemia (ALL) with trisomy 5 as a sole cytogenetic abnormality,. A comparison is made with the two cases of adult acute lymphoblastic leukemia with trisomy 5 in the literature. This rare cytogenetic abnormality may por tend an especially poor prognosis in patients with ALL. (C) Elsevier Science Inc., 2000. AII rights reserved.

关键词：染色体人 5对/遗传学致命性结局基因重排 B淋巴细胞/遗传学基因重排 δ链T细胞抗原受体基因免疫球蛋白/遗传学前体细胞淋巴母细胞白血病淋巴瘤/诊断前体细胞淋巴母细胞白血病淋巴瘤/药物疗法前体细胞淋巴母细胞白血病淋巴瘤/遗传学前体细胞淋巴母细胞白血病淋巴瘤/死亡率前体细胞淋巴母细胞白血病淋巴瘤/病理学预后三体性/遗传学成年人儿童女(雌)性人类男(雄)性

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Do Rosette, heterochromatin, and/or genomic imprinting influence preferential translocations in human neoplasia?

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CANCER GENETICS AND CYTOGENETICS 2000年第2期116卷 174-175页

作者： Verma, RS Cornell Univ Brooklyn New York Hosp Wyckhoff Hts Med Ctr Weill Coll MedDiv Mol Med New York NY 10021 USA SUNY Hlth Sci Ctr Inst Mol Biol & Genet Brooklyn NY USA

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关键词：基因组印迹/遗传学异染色质/遗传学白血病髓系慢性 BCR-ABL阳性/遗传学癌基因蛋白质类融合/遗传学费城染色体前体细胞淋巴母细胞白血病淋巴瘤/遗传学易位遗传/遗传学人类

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Ph-positive acute lymphocytic leukemia in a man with Klinefelter syndrome

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CANCER GENETICS AND CYTOGENETICS 2000年第1期118卷 83-84页

作者： Yano, T Yuzurio, S Kimura, K Kishimoto, T Okayama Rosai Hosp Dept Med Okayama Japan

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关键词：无病生存疾病遗传易感性核型分析 Klinefelter综合征/并发症 Klinefelter综合征/遗传学 Klinefelter综合征/病理生理学镶嵌现象/遗传学费城染色体前体细胞淋巴母细胞白血病淋巴瘤/并发症前体细胞淋巴母细胞白血病淋巴瘤/遗传学前体细胞淋巴母细胞白血病淋巴瘤/病理学前体细胞淋巴母细胞白血病淋巴瘤/治疗缓解诱导人类男(雄)性中年人

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Complex chromosome 9, 20, and 22 rearrangements in acute lymphoblastic leukemia with duplication of BCR and ABL sequences

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CANCER GENETICS AND CYTOGENETICS 2000年第2期116卷 119-123页

作者： Stevens-Kroef, MJPL Dirckx, R Meers, LEC Albrechts, JCM Schouten, HC Hamers, AJH Univ Maastricht Dept Mol Cell Biol & Genet NL-6201 BL Maastricht Netherlands Univ Hosp Maastricht Dept Internal Med Maastricht Netherlands

Cytogenetic analysis was performed on bone marrow cells from a 28-year-old woman who was diagnosed with acute lymphoblastic leukemia (ALL). Her karyotype was: 46,XX,t(9;22)(q34;q11)[6]/47,XX,+8,t(9;22)(q34;q11)[4]/47,XX,+8,t(9;22)(q34;q11),del(20)(q11[4]/47,XX,t(9;22)(q34;q11),del(20)(q11)[7]/45,XX,der(9)t/9;22)(q34;q11),-20,-22,+mar1[8]/45,XX,der(9)t(9;22)(q34;q11),-20,-22,+mar2[3]. Both marker chromosomes are dicentric and have the same size and banding pattern but different primary constrictions. Fluorescence in situ hybridization (FISH) demonstrated that both markers were derived from chromosomes 9, 20, and 22. FISH with the bcr/abl probe showed fusion of the BCR gene with the ABL gene;however, this fusion signal was present in duplicate on both marker chromosomes. To our knowledge, duplication of the BCR/ABL fusion signal on a single chromosome arm has not been reported before, except for the extensive amplification of BCR/ABL fusion signals in the leukemic cell line K-562. These data demonstrate that the marker chromosomes are the result of complex genomic rearrangements. At the molecular level, the BCR/ABL fusion gene encodes the p190 fusion protein. Similar findings have never been observed in any case of ALL. (C) Elsevier Science Inc., 1999. All rights reserved.

关键词：染色体人 20对染色体人 22对染色体人 9对荧光染料融合蛋白质类 bcr-abl/遗传学基因复制原位杂交荧光核型分析费城染色体前体细胞淋巴母细胞白血病淋巴瘤/遗传学成年人女(雌)性人类

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Double Philadelphia chromosomes in acute lymphocytic leukemia

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CANCER GENETICS AND CYTOGENETICS 2000年第1期121卷 101-102页

作者： Yahata, N Tauchi, T Kimura, Y Kodama, A Fukutake, K Ohyashiki, K Tokyo Med & Dent Univ Dept Internal Med 1 Cent Clin Lab Div Tokyo 113 Japan

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Clinical significance of cytogenetic findings at diagnosis and in remission in childhood and adult acute lymphoblastic leukemia: Experience from India

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CANCER GENETICS AND CYTOGENETICS 1999年第1期110卷 44-53页

作者： Amare, P Gladstone, B Varghese, C Pai, S Advani, S Tata Mem Hosp Dept Med Oncol Cytogenet Lab Bombay 400012 Maharashtra India

We report cytogenetic findings in 114 patients of acute lymphoblastic leukemia (ALL), which includes 78 children (less than or equal to 15 years) and 36 adults (16-60 years). Chromosome aberrations;were detected in 109 (95%) cases. A lower frequency of hyperdiploidy (15%) in children and a higher frequency of hypodiploidy both in children (38.4%) and adults (44.4%) were found, in contrast to literature. Translocations were detected in one third of adult and pediatric cases. The incidence of t(9;22) was comparatively low in adults (7.7%). Frequency of t(1;19) was also low in overall ALL cases. Various other recurrent abnormalities such as del(6q), abn(11q23), i(9p), abn(12p13), del(7q), and i(17q) were seen in our cases;a striking difference in the incidence of del(6q) (41%) and abn(11q23) (30%) was found in our series versus reported literature. Ploidy distribution indicated association of pseudo;and hypodiploidy with B-lineage, and hypodiploidy with T-lineage in children-The occurrence of del(6q)) was more frequent in pediatric ALL with highly aberrant pattern and also with lymphadenopathy. Abn(11q23) was found to be early-B and pre-B specific. Kaplan-Meier analysis of overall survival revealed Prognostic value of sex, FAB, immunophenotype, and cytogenetic findings. Females and T-ALL patients had a better prognosis, whereas males and B-ALL patients had poor outcome in overall and pediatric age groups. Prognostic evaluation of cytogenetics indicated translocations as an independent high-risk predictor in childhood (P < 0.008) and adult ALL (P < 0.01). Childhood ALL with t(8;14) and t(4;11) and adults with t(9;22) had poor survival. Cytogenetics of remission marrows demonstrated disappearance of abnormal clones in 31.4%, and expansion in normal clones in 50% of patients. Persistence of original clones and development of new clones were observed in 20% and 33% of patients, respectively;whereas karyotype evolution was identified in 20% of patients. The prognostic signi

关键词：染色体畸变前体细胞淋巴母细胞白血病淋巴瘤/遗传学前体细胞淋巴母细胞白血病淋巴瘤/死亡率前体细胞淋巴母细胞白血病淋巴瘤/病理学预后存活率青少年成年人儿童儿童学龄前女(雌)性人类婴儿男(雄)性

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BCR/ABL translocation in adult acute lymphoblastic leukemia:: A comparison of conventional and interphase cytogenetic studies

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CANCER GENETICS AND CYTOGENETICS 1999年第1期110卷 19-22页

作者： So, CC Wong, KF Chung, J Kwong, YL Queen Elizabeth Hosp Dept Pathol Hong Kong Peoples R China Queen Mary Hosp Dept Med Hong Kong Peoples R China

Twenty-four adult Chinese patients with de novo acute lymphoblastic leukemia (ALL) were studied for the BCR/ABL translocation using both conventional cytogenetics and fluorescence in situ hybridization (FISH). Fight (33%) patients had the translocation as shown by FISH and all were B-lineage ALL (8/19, 42%). Conventional cytogenetics revealed a t(9;22)(q34;q11) in six of them, but was either unsuccessful, or not done in the other two. Seven of the eight positive cases (88%) showed a breakpoint at the minor breakpoint cluster region (m-BCR), which was confirmed by reverse transcriptase polymerase chain reaction (RT-PCR). To conclude, the frequency of BCR/ABL translocation in Chinese patients with de novo ALL is comparable to patients in the Western hemisphere, in contrast to a previous report. The predominance of m-BCR/ABL fusion among these Chinese patients with BCR/ABL translocation is also similar to patients in the Western population. Fluorescence in situ hybridization is a sensitive, specific and relatively simple technique for demonstrating this important unfavorable prognostic marker in ALL, even in a routine service laboratory setting. (C) Elsevier Science Inc., 1999. All rights reserved.

关键词：融合蛋白质类 bcr-abl/遗传学基因 abl 分裂间期癌基因蛋白质类/遗传学前体细胞淋巴母细胞白血病淋巴瘤/遗传学蛋白酪氨酸激酶类原癌基因蛋白质类原癌基因蛋白质c-bcr 易位遗传成年人老年人女(雌)性人类男(雄)性中年人

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p190 BCR-ABL rearrangement in chronic myeloid leukemia and acute lymphoblastic leukemia

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CANCER GENETICS AND CYTOGENETICS 1999年第1期113卷 100-102页

作者： Lemes, A Casares, MTG de la Iglesia, S Matutes, E Molero, MT Hosp Univ N Sra del Pino Dept Haematol & Haemotherapy Hematol Serv Las Palmas Gran Canaria 35005 Spain Royal Marsden Hosp Acad Dept Haematol & Cytogenet London England

A minority of chronic myeloid leukemia (CML) cases have breakpoint in the minor cluster region (m-bcr) of the BCR:ABL fusion gene. We report a patient with Ph-positive acute lymphoblastic leukemia and m-bcr breakpoint at diagnosis. The patient was treated with chemotherapy follow ed by an autologous peripheral blood stem cell transplantation, achieving a clinical and hematological complete remission but with persistence of the Philadelphia chromosome. One year later, she developed leukocytosis with a blood picture consistent with CML. She was treated with hydroxyurea and interferon alpha with no response. This is the second case of m-bcr CML reported presenting with features of lymphoid blast crisis or acute lymphoblastic leukemia. (C) Elsevier Science Inc., 1999. All rights reserved.

关键词：骨髓/病理学疾病恶化融合蛋白质类 bcr-abl/遗传学核型分析白血病髓系慢性 BCR-ABL阳性/遗传学前体细胞淋巴母细胞白血病淋巴瘤/遗传学逆转录聚合酶链反应成年人女(雌)性人类

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Detection of t(12;21) in childhood acute lymphoblastic leukemia by fluorescence in situ hybridization

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CANCER GENETICS AND CYTOGENETICS 1999年第1期110卷 7-13页

作者： Spathas, DH Stewart, J Singer, IO Theriault, A Bovey, M Connor, JM Univ Patras Sch Med Lab Gen Biol Patras 26110 Greece Univ Glasgow Duncan Guthrie Inst Med Genet Glasgow Lanark Scotland So Gen Hosp Dept Hematol Glasgow G51 4TF Lanark Scotland

Metaphase preparations from 36 patients with acute lymphoblastic leukemia (ALL) have been retrospectively screened by fluorescence in situ hybridization (FISH) to determine the incidence of translocation (12;21) and the potential usefulness of FISH as an adjunct to conventional cytogenetic analysis. With the use of specific chromosome paints, 4 of 31 patients with B-lineage childhood ALL (13%) demonstrated rearrangements of chromosomes 12 and 21, and therefore, were considered to harbor the translocation, which had not previously been detected by conventional karyotyping. However, none of these positive cases revealed the standard reciprocal t(12;21)(p12;q22) as the sole abnormality involving chromosomes 12 and 21. The study confirms the feasibility and advantages of introducing FISH screening for t(12;21) in pediatric ALL cases and demonstrates the usefulness of FISH screening as a backup to concurrent cytogenetic analysis to resolve variant translocations and aberrant results. The presence of t(12;21) has also been correlated to clinical data to assess the prognostic significance of this translocation on its own or in association with other prognostic features. (C) Elsevier Science Inc., 1999. All rights reserved.

关键词：染色体人 12对染色体人 21对核心结合因子α2亚基 DNA结合蛋白质类原位杂交荧光前体细胞淋巴母细胞白血病淋巴瘤/遗传学原癌基因蛋白质类转录因子/遗传学易位遗传青少年成年人老年人儿童儿童学龄前女(雌)性人类婴儿男(雄)性中年人

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