Aged ; Female ; Fibroma ; pathology ; Fibroma, Ossifying ; pathology ; Gingival Neoplasms ; pathology ; Humans

OBJECTIVETo assess the value of fluorescence in situ hybridization (FISH) for the detection of genomic abnormalities among patients with chronic lymphocytic leukemia (CLL).

METHODSInterphase FISH was performed on bone marrow samples derived from 105 patients with CLL at the time of diagnosis using probes for D13S319/13q14, ATM/11q22, P53/17p13 and CEP12. The abnormalities and prognostic factors were analyzed. Overall survival of the patients was calculated.

RESULTSThe FISH assay has detected genomic abnormalities in 81 (77.1%) of the patients, among which D13S319/13q14 deletion was the most common (49/105, 46.67%). 24(22.86%) patients had trisomy 12, 21(20.00%) had ATM/11q deletion, and 12(11.43%) had P53/17p deletion. A significant correlation was found between Binet staging and the detected abnormalities (< 0.05). With a median follow-up time of 10 months, 11 patients (10.5%) had died. Compared with those with P53 deletion, patients with 13q deletion showed a better overall survival. However, the overall survival did not significantly differ between patients with various genomic abnormalities (> 0.05).

CONCLUSIONFISH is capable of detecting common genomic aberrations among patients with newly diagnosed CLL. Deletion of D13S319/13q14 is the most common aberration in such patients. Genomic aberrations are significantly correlated with Binet staging but not the overall survival of CLL patients.

Adult ; Aged ; Aged, 80 and over ; Chromosome Aberrations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; methods ; Leukemia, Lymphocytic, Chronic, B-Cell ; diagnosis ; genetics ; Male ; Middle Aged

OBJECTIVETo investigate the association between trisomy 21 abnormalities and the clinical and cytogenetic features of hematologic malignancies.

METHODSChromosome preparations were made on bone marrow cells by using direct method and/or unstimulated short-term cultures. Karyotypes were analyzed by R-banding.

RESULTSThirteen patients (1.5%) with acute myeloid leukemia (AML) including 6 cases of M5b, 8 (2.2%) with acute lymphoblastic leukemia (ALL) and 4 cases with other hematologic malignancies had acquired trisomy 21, and in 13 patients it occurred as the sole cytogenetic abnormality. The remaining had combination with other abnormalities. The median survival for the 19 patients with trisomy 21 was 9 months.

CONCLUSIONM5b was the major type in AML with sole acquired trisomy 21.Trisomy 21 as the sole abnormality appeared to have a poor prognosis.

Adolescent ; Adult ; Aged ; Down Syndrome ; complications ; Female ; Follow-Up Studies ; Hematologic Neoplasms ; complications ; genetics ; pathology ; Humans ; Karyotyping ; Leukemia, Myeloid, Acute ; complications ; genetics ; pathology ; Male ; Middle Aged ; Phenotype ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; complications ; genetics ; pathology ; Survival Rate

OBJECTIVE: To characterize cytogenetic changes and prognosis of patients with acute myeloid leukemia (AML) from different age groups. METHODS: The karyotypes of 515 AML patients were analyzed by using short-term culture of bone marrow cells and R-banding technique. Combined with FAB typing and genetic testing, cytogenetic changes and prognosis of different age groups were analyzed. RESULTS: The abnormal cloning rate was 54.6% among the 515 patients. The abnormal cloning rate and adverse risk karyotype proportion of those with myeloproliferative syndromes (MDS) and secondary AML were higher than those with de novo AML (P = 0.027; P<0.01). A significant difference was found in the number of structural abnormalities and proportion of favorable risk karyotypes among different age groups (P = 0.026; P = 0.004). And there was also a significant difference in the abnormal cloning rate between different FAB types (P<0.01). In those with non-acute promyelocytic leukemia (APL), the expression level of WT1 gene seemed to affect the prognosis. The survival rate of patients with karyotypes of adverse risk was lower than those with karyotypes of favorable risk (P = 0.015). The survival rate of the ≥60-year-old group was lower than the ≤30-year-old and 31 to 59-year-old groups (P<0.01, P<0.01). CONCLUSION The karyotypes of AML patients have different age distribution characteristics. The survival rate of ≥60-years-old group and karyotype of poor prognosis is low. Patients with MDS with secondary AML have a poor prognosis.
Adult ; Chromosome Aberrations ; Cytogenetic Analysis ; Cytogenetics ; Humans ; Karyotype ; Karyotyping ; Leukemia, Myeloid, Acute ; Middle Aged ; Myelodysplastic Syndromes ; Prognosis

OBJECTIVETo investigate the cytogenetic features of acute myeloid leukemia (AML) with t(8;21).

METHODSThe clinical characteristics of 154 cases of acute myeloid leukemia with t(8;21) in our hospital were analyzed retrospectively. According to the chromosome karyotype, all cases were divided into three groups: the group without additional chromosome abnormality, the group with single sex chromosome loss and the group with additional chromosome abnormalities other than sex chromosome loss.

RESULTIn this study, according to FAB classification, there were 127 cases of M2 (82.5%), 15 of M5 (9.7%), 6 of M4 (3.9%), 4 of M1(2.6%) and 2 of M0(1.3%). Cytogenetically, 85 (55.2%) AML patients with t(8;21) had additional chromosome abnormalities. The most common abnormalities were sex chromosome loss, of which -Y was detected in 44.1% of the male karyotype and X in 27.9%. Beside that, there were 9 cases of 9q- (5.8%), 5 of +8(3.3%),3 of +4(2.0%) and 17 of other chromosome anomalies (11.4%). In the group of t(8;21) with additional chromosome abnormalities, 11 cases (35.5%) were non-M2 AML, higher than that in single t(8;21) group (17.4%)(P<0.05); however, there was no significant difference between the group of single t(8;21) and the group of t(8;21) with single sex chromosome loss(P>0.05).

CONCLUSIONt(8;21) translocation is usually accompanied by additional chromosome abnormalities, particularly in M2; while t(8;21) with additional chromosome abnormalities other than sex chromosome loss is more frequently observed in non-M2 AML.

Adolescent ; Adult ; Chromosome Aberrations ; Chromosomes, Human, Pair 21 ; genetics ; Chromosomes, Human, Pair 8 ; genetics ; Cytogenetic Analysis ; Female ; Humans ; Leukemia, Myeloid, Acute ; classification ; genetics ; Male ; Middle Aged ; Prognosis ; Retrospective Studies ; Translocation, Genetic ; Young Adult

OBJECTIVETo investigate the effect of myeloma-derived exosomes on surface activating receptors of NK cells, and to explore the mechanism of the function defect of NK cells.

METHODSThe exosomes from the supernatant of multiple myeloma cell lines RPMI8226 and U266 were extracted by ultracentrifugation, and the size of them was identified under electron microscope; the human primary NK cells were extracted, and were co-cultured with the myeloma-derived exosomes (40 µg/ml), then the expression levels of surface activating receptors NKp46, NKp30 and NKG2D of NK cells at 0,1,4 and 24 hours were detected by flow cytometry.

RESULTSThe exosomes showed small vesicular, sized 30-100 nm under electron microscope. The expression of surface activating receptors of NK cells declined at different degree after co-cultured with myeloma-derived exosomes.

CONCLUSIONMyeloma-derived exosomes can inhibit the expression of surface activating receptors of NK cells.

OBJECTIVE: To investigate the clinical characteristics and prognosis of patients with acute monocytic leukemia(AML-M5)with abnormality of chromosome 8.METHODS: The clinical features of 143 patients with AML-M5 were analyzed retrospectively,and the prognosis factors were analyzed.RESULTS: Out of 143 AML-M5 newly diagnosed patients,37 cases with chromosome 8 aberrations including t(8;21)accounting for 6.99%(10/143),trisomy 8 16.08%(23/143),and other 8 aberrations 2.80%(4/143);73 cases had normal karyotype,and 33 cases possessed non chromosome 8 abnormality.Statistically significant differences did not exist among age,sex,hemogram and bone marrow blasts(P>0.05).However,with chromosome 8 abnormality were predisposed to lower initial white blood cell count(P<0.05).Among 131 patients of receiving chemotherapy,the remission rate after the first course of inducible chemotherapy was 63.36%(83/131)and the one-year survival rate was 61.1%.Analysis of prognostic factors showed that age,the remission after the first induction of chemotherapy(complete remission or no remission),trisomy 8 chromosomal karyotype and treatment regimen(chemotherapy alone or plus hematopoietic stem cell transplantation) had effects on overall survival(P<0.05).Multivariate analysis revealed two independent risk factors:age≥60 years(P<0.05,HR=2.134,95% CI 1.204～3.784)and the complete remission after the first induction of chemotherapy(P<0.05,HR=0.408,95% CI 0.227～0.733).CONCLUSION: Chromosome 8 is easily involved in AML-M5.The patients with involvement of this aberration have lower initial white blood cell count and a poor prognosis.Patients after complete remission have hematopoietic stem cell transplantation is beneficial to prolong survival.

OBJECTIVETo explore the incidence of chromosome 1 abnormality in myelodysplastic syndrome（MDS）to couple its association with clinical presentation and prognosis.

METHODSR- band karyotype analyses were performed in 672 cases of MDS between 2010 and 2013. Clinical data of those with abnormal chromosome l were collected and then analyzed factors affecting the prognosis.

RESULTSOf 672 cases of patients with MDS, chromosome 1 aberration［der（1）, dup（1）, －1 were most frequent］ were found in 41（6.1%）cases. 1q trisomy was found in 18/41（43.9%）cases, and the most common patterns were duplication of the long arm as well as unbalanced translocation with other chromosomes. Of 41 patients with chromosomal 1 abnormality, 32 cases were accompanied with other chromosomal aberration, usually involving 3 or more abnormal chromosomal karyotypes, e.g., chromosome 8, 7 abnormalities. According to IPSS-R scoring system, 19 patients were diagnosed with very high risk, 10 patients high risk, 10 patients intermediate risk and 2 patients low risk MDS. 9 patients transformed into acute leukemia with median transforming time of 7.18（0.56-54.28）months. Median survival of 36 cases after 2010 was 17.48（95% CI 14.38-20.58）months. There were significant differences on median survival between RAEB and non-RAEB groups（χ²=10.398, P=0.001）, and between with more than 3 chromosome abnormalities and with less than 3 groups（χ²=3.939, P=0.047）. RAEB was identified as an independent risk factor for the prognosis of MDS with chromosome 1 abnormality.

CONCLUSIONChromosome 1 aberration was not rare in MDS. 1q trisomy was the most common abnormal karyotype in China, which often accompanied with other chromosomal abnormalities. The prognosis of MDS patients with chromosome 1 abnormality was poor, especially worse in those diagnosed with RAEB-1, RAEB-2 and with more than 3 chromosome abnormality. For patients whose percentage of bone marrow blasts less than 5%, the prognosis of patients with 1q trisomy was better than those without 1q trisomy. RAEB was identified as an independent risk factor for the prognosis of MDS with chromosome 1 abnormality.

Abnormal Karyotype ; Acute Disease ; Anemia, Refractory, with Excess of Blasts ; Bone Marrow ; China ; Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 1 ; genetics ; Humans ; Karyotyping ; Leukemia ; diagnosis ; genetics ; Myelodysplastic Syndromes ; diagnosis ; genetics ; Prognosis ; Risk Factors ; Trisomy

This study aimed to investigate the prevalence, clinical characteristics, and prognostic impact of 1p32.3 deletion in patients with newly diagnosed multiple myeloma (MM). A retrospective analysis was conducted on 411 patients with newly diagnosed MM; among which, 270 received bortezomib-based therapies, and 141 received thalidomide-based therapies. Fluorescence in situ hybridization (FISH) was performed to detect six cytogenetic abnormalities, namely, del(1p32.3), gain(1q21), del(17p13), del(13q14), t(4;14), and t(11;14). Results showed that 8.3% of patients with MM were detected with del(1p32.3) and had significantly more bone marrow plasma cells (P = 0.025), higher β2-microglobulin levels (P = 0.036), and higher lactate dehydrogenase levels (P = 0.042) than those without del(1p32.3). Univariate analysis showed that patients with del(1p32.3) under thalidomide-based therapies (median PFS 11.6 vs. 31.2 months, P = 0.002; median OS 16.8 vs. 45.9 months, P < 0.001) were strongly associated with short progression-free survival (PFS) (P = 0.002) and overall survival (OS) (P < 0.001). Multivariate analysis revealed that del(1p32.3) remained a powerful independent factor with worse PFS (P = 0.006) and OS (P = 0.016) for patients under thalidomide-based treatments. Patients with del(1p32.3) under bortezomib-based treatments tended to have short PFS and OS. In conclusion, del(1p32.3) is associated with short PFS and OS in patients with MM who received thalidomide- or bortezomib-based treatments.