scholarly journals Chromosomal Abnormalities in Multiple Myeloma

Blood ◽  
1967 ◽  
Vol 30 (6) ◽  
pp. 738-748 ◽  
Author(s):  
K. C. DAS ◽  
B. K. AIKAT
Keyword(s):  
Multiple Myeloma ◽  
Bone Marrow ◽  
Chromosomal Aberrations ◽  
Chromosomal Abnormality ◽  
Chromosomal Abnormalities ◽  
Acute Leukemias ◽  
Leukocyte Culture ◽  
Peripheral Leukocyte ◽  
Direct Preparation ◽  
Chromosomal Changes

Abstract Chromosome studies were carried out in five cases of multiple myeloma by peripheral leukocyte culture and direct preparation from bonemarrow cells. No chromosomal abnormality was detected by leukocyte culture in any of these cases. Analysis of bone marrow metaphase plates revealed abnormalities in four out of five cases. Chromosomal changes were characterized by their variability from case to case, as well as among different groups of cells in individual cases. Both numerical and structural anomalies were encountered. The chromosome series more frequently involved were C, A, G and B in decreasing order. The diverse chromosomal aberrations encountered in these four cases of multiple myeloma are reminiscent of those described in acute leukemias.

Occurrence of Chromosomal Abnormalities In Bone Marrow CD14+ monocytes of Multiple Myeloma Patients

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 2968-2968
Author(s):  
Hana Svachova ◽  
Henrieta Greslikova ◽  
Aneta Mikulasova ◽  
Kristina Berankova ◽  
Pavel Nemec ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Bone Marrow ◽  
Pilot Study ◽  
Chromosomal Aberrations ◽  
Gene Rearrangement ◽  
Plasma Cells ◽  
Chromosomal Abnormalities ◽  
Common Precursor ◽  
Igh Gene Rearrangement ◽  
Endothelial Precursors

Abstract Abstract 2968 Introduction: Increased bone marrow angiogenesis is a characteristic feature of multiple myeloma (MM). New blood vessels formation is provided by recruiting vascular endothelial cells from existing capillaries or circulating endothelial progenitor cells (EPC). EPCs have distinct monocytic features and can be cultured from CD14+ cells. In addition, monocytes were shown to contribute to angiogenesis as EPCs in vivo. It has been established that myeloid progenitor cells participate in the development of endothelial precursors. In MM, it has been reported that circulating EPCs carried the same chromosomal aberrations as neoplastic plasma cells (PC). It is possible that EPCs originate from common precursor that gives rise to both PCs and endothelial cells. The purpose of our pilot study was to clarify whether myeloid cells, CD14+ monocytes (CD14+MO), in MM might carry the same chromosomal abnormalities as CD138+PC. Methods: Total of 15 MM patients were enrolled in this pilot study; 93 % (14/15) typical MM; 7 % (1/15) plasma cell leukemia (PCL). CD138+PCs were isolated by magnetic-activated cell separation (MACS) from bone marrow mononuclear cells (BMMNC). CD14+MOs were isolated by fluorescence-activated cell sorting (FACS) from BMMNC after isolation of CD138+PCs. The purity of both cell populations was > 90%. Distinct BM cell fractions were analyzed for del(13q14), del(17p53), IgH gene rearrangement, hyperdiploidy and trisomy of chromosomes 5, 9, 15 by interphase fluorescence in situ hybridization (FISH) according to standard protocol. The cut-off level for detection of choromosomal aberarations was set to 20%. Results: FISH analysis proved at least one of studied chromosomal abnormalities in 20% (3/15) of MM patients (See Table 1; No.1 – No.3). In case No.1, a patient with PCL, CD14+MOs were positive for del(13q14)(31%), IgH gene rearrangement (46%) and trisomy 9 (47%). The same aberrations were found in CD138+PCs but with higher frequency (Table 1). Patient No.2 was positive for del(13q14)(35%) and for del(17p53)(39%) in CD14+MO but in CD138+PCs, the patient was positive further for hyperdiploidy (53%) and trisomy 5 (28%), 9 (56%) and 15 (60%). CD14+MOs of patient No.3 were positive only for trisomy 15 (25%) which corresponded to trisomy 15 (24%) in CD138+PCs. Other chromosomal abnormalities found in CD138+PCs of No.3 were not detected in CD14+MOs. Chromosomal aberrations identified in CD14+MOs of No.4 – No.15 did not reach the cut-off level for positivity (Table 1). Conclusion: In our pilot study, we demonstrated for the first time that bone marrow CD14+ monocytes of MM patients carried the same chromosomal aberrations as CD138+ plasma cells. The possible explanation is that CD14+MOs and CD138+PCs may origin from a common precursor. We hypothesize that myeloid cells might play a role in blood vessel formation as endothelial precursors and might be important in pathogenesis of multiple myeloma. It requires further study to elucidate the relationship between two distinct bone marrow populations and a potential role of CD14+cells in disease severity. Supported with research program MSM of Czech republic Nr. 0021622434 and LC06027. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Structure and signifi cance of cytogenetic abnormalities in patients with multiple myeloma

2021 ◽  
Vol 66 (1) ◽  
pp. 54-67
Author(s):  
T. V. Abramova ◽  
T. N. Obukhova ◽  
E. O. Gribanova ◽  
M. V. Solovev ◽  
M. V. Firsova ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Bone Marrow ◽  
Chromosomal Abnormality ◽  
Chromosomal Abnormalities ◽  
Negative Impact ◽  
Progression Free Survival ◽  
Β2 Microglobulin ◽  
Bone Marrow Trephine Biopsy ◽  
Ldh Activity ◽  
Pre Treatment

Introduction. Cytogenetic and genomic traits of tumour cells are considered the key mediating factors in multiple myeloma (MM). Selected chromosomal abnormalities are prognostic of therapeutic response and patient survival in MM.Aim — to assess of the diversity and rate of chromosomal abnormalities in MM patients and their association with the disease course.Materials and methods. The study enrolled 134 MM patients with pre-treatment bone marrow FISH assay screening for chromosomal abnormalities: t(11;14), t(4;14), t(14;16), t(14;20), t(6;14), hyperdiploidy, del13q14/-13, del17p13/TP53, amp1q21, t(8q24)/cMYC. The studied criteria at the MM onset were: hemogram, lactate dehydrogenase (LDH) activity, calcium, β2-microglobulin and creatinine concentrations, punctate cytology, bone marrow trephine biopsy and/or soft tissue biopsy histology, bone X-ray, immunochemical variant of MM, disease staging. A median follow-up was 20 months (3.2–77.4).Results. The primary chromosomal abnormality rate was 82.9  %, among them t(14q32)/IGH  — 29.1  %, multiple trisomies — 46.3 % and their combination — 7.5 %. The rates of particular t(14q32)/IGH): t(11;14) — 16.4 %, t(4;14) — 12.7 %, t(14;16) and t(14;20) — 3.7 and 2.2 %, respectively. The secondary chromosomal abnormality rate was 69.4 %, among them del13q14/-13 — 40.3 %, amp1q21 — 39.6 %, t(8q24)/cMYC — 17.2 %, del17p13/TP53 — 12.7 %, del1p32 — 2.2 %. Analyses of the primary–secondary abnormality combinations showed that del13q14/-13 is more frequently combined with t(4;14) and less frequently with trisomies (p < 0.05). Amp1q21 occurs more frequently with t(4;14) and less — with t(11;14) (p<0.05). Patients with t(4;14) more frequently (p < 0.05) had anemia at a hemoglobin level<100 g/L, and the presence of amp1q21 and del17p13/TP53-enhanced serum LDH activity (p < 0.05). Abnormality t(8q24)/cMYC more often co-occurred with higher serum β2-microglobulin concentrations (p < 0.05). A three-year overall survival (OS) in del17p13/TP53-positive patients was 35.5 vs. 71.3 % in the negative (p = 0.002) and 50.8 vs. 67 % — in t(8q24)/cMYC-positive and negative patients, respectively (p = 0.001). Patients without amp1q21, with one, with two or more additional 1q21 copies had a five-year OS 79.4, 67.3 and 20.9 %, respectively (p = 0.0016), and a two-year progression-free survival (PFS) 83, 50 and 0 %, respectively (p = 0.005).Conclusion. We establish a negative impact of del17p13/TP53 and t(8q24)/cMYC on patients’ OS in MM, as well as unfavourable effect of amp1q21 on OS and PFS in the presence of two or more additional copies of 1q21 loci.

Effect of Amp5q31 and Del12p13 on Survival of Patients with Multiple Myeloma Treated with Novel Agent-Based Regimens: A Single Center Experience on 172 Patients

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 1811-1811
Author(s):  
Evangelos Terpos ◽  
Efstathios Kastritis ◽  
Despoina Iakovaki ◽  
Maria Gkotzamanidou ◽  
Magdalini Migkou ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Overall Survival ◽  
Median Survival ◽  
Chromosomal Aberrations ◽  
Median Overall Survival ◽  
Chromosomal Abnormalities ◽  
Newly Diagnosed ◽  
Single Center ◽  
Agent Based ◽  
Novel Agent

Abstract Abstract 1811 The presence of chromosomal aberrations is a characteristic feature of multiple myeloma (MM). Recently, Avet-Loiseau et al reported that amp5q31.3 and del12p13.31, detected by high-density, single-nucleotide polymorphism arrays analysis correlate with prognosis in MM patients who were treated upfront with conventional chemotherapy (JCO 2009; 27:4585–90). The aim of our study was to evaluate the effect of these chromosomal abberations on survival of patients with newly diagnosed MM or with relapsed/refractory myeloma who were treated with novel agent-based regimens. We studied 172 MM patients who were treated in a single center in Athens (Greece) during a 4-year period (2007–2011); 76 were newly-diagnosed and were treated upfront with either bortezomib- or IMiD-based regimens and 96 had relapsed or refractory MM and were treated with the combination of lenalidomide and dexamethasone with or without bortezomib (RD vs. VRD) based on the presence of previous peripheral neuropathy (Dimopoulos et al, Leukemia 2010;24:1769–78). A combined methodological approach of G-banding karyotypic analysis and interphase fluorescence in situ hybridization (FISH) was performed in all patients. G-banding analysis was performed according to the European Cytogenetic Guidelines and Quality Assurance (ECA, 2006). The clonality criteria and the karyotypic description followed the recommendations of the International System for Human Cytogenetic Nomenclature (ISCN, 2009). FISH was performed according to the Recommendations for FISH in MM (European Myeloma Network) on uncultured BM, either on cytoplasmic immunoglobulin-enhanced cells (cIg-FISH) or on nuclei from purified CD138+ plasma cells. Commercially available DNA probes (Abott-VYSIS) were used for the detection of del17p, del13q, add1q21, t(4;14) and t(14;16). The probes RP11-96J7 and RP11-578N7 (labeled by Empire Genomics, NY, USA) were used to detect amp5q31 and del12p13. The frequency of the studied chromosomal abnormalities is depicted in the table. There was a strong correlation between the presence of amp5q31 with hyperdiploidy (p=0.012) but amp5q31 did not correlate with the presence of any other of the studied chromosomal aberrations. The presence of del12p13 was correlated with the presence of del13q (p=0.001), t(4;14) (p=0.009) and del17p (p=0.005). Add1q21 also correlated with del13q (p<0.001), t(4;14) (p<0.001) and del17p (p=0.007). In patients with relapsed/refractory MM, who received either RD or VRD, the median overall survival was 19 months. Patients with amp5q31 had a median survival of 18 months (95% CI: 13–23 months) vs. 21 months of the others (95% CI: 8–35 months; p=0.737), while patients with del12p13 had a median survival of 27 months (95% CI: 0–57 months) vs. 19 months of the others (95% CI: 10–27 months; p=0.767). Of the other studied cytogenetic abnormalities, the presence of del17p (11 vs. 26 months; p=0.001), amp1q21 (12 vs. 26 months; p=0.001) and del13q by FISH (11 vs. 26 months; p=0.025), but not of t(4;14) (p=0.521), were associated with inferior overall survival. In patients with newly-diagnosed MM, the median overall survival was 57 months. The median survival of patients with amp5q31 was 46 months vs. 57 months of all others (p=0.315) and for patients with del12p13 has not been reached vs. 57 months of all others (p=0.379). In conclusion, amp5q31 and del12p13 are recurrent chromosomal abnormalities in MM. Amp5q31 is not associated with the presence of other genetic features, except hyperdiploidy. αmp5q31 or 12p13 was not predictive of survival ιn our series. However, further studies are needed in patients with newly diagnosed MM who receive novel agents upfront to validate the prognostic importance of amp5q31 and del12p13.TableCytogenetic abnormalityPatients at diagnosis (n=76)Relpased/refractory patients (n=96)p-valueamp5q3112 (15.7%)20 (20.8%)0.271amp5q31 as sole anomaly5 (6.5%)7 (7.2%)0.674del12p138 (10.5%)16 (16.6%)0.171del13q28 (36.8%)28 (29.1%)0.279del17p13 (17.1%)15 (15.6%)0.765add1q2115 (19.7%)26 (27%)0.303t(14;16)1 (1.3%)1 (1%)0.832t(4;14)4 (5.2%)10 (10.4%)0.221Hyperdiploidy/hypodiploidy10 (13.1%)/6 (7.8%)11 (11.4%)/13 (13.5%)0.301 Disclosures: No relevant conflicts of interest to declare.

FISH Analysis in Multiple Myeloma - a Retrospective Study from India

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 5646-5646 ◽  
Author(s):  
Pratibha Dhiman ◽  
Shalini Goel ◽  
Priyanka Samal ◽  
Nitin Sood ◽  
Ritesh Sachdev ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Bone Marrow ◽  
High Risk ◽  
Chromosomal Aberrations ◽  
Overall Response Rate ◽  
Response Rate ◽  
Indian Subcontinent ◽  
Fish Analysis ◽  
Interphase Fish

Abstract Introduction Multiple myeloma (MM) is a malignancy involving terminally differentiated plasma cells. It is characterized by a complex pattern of extensive genomic aberrations involving many chromosomes and it constitutes about 1% of all malignancies. Its exact incidence in India is not known. Based on data available from 6 population-based cancer registries in India (covering 0.3% of the population) its incidence varies from 0.3 to 1.9 per 100 000 for men and 0.4 to 1.3 per 100 000 for women. Among various prognostic markers in MM, cytogenetic abnormality detected by conventional cytogenetic and FISH studies are major factors deciding clinical outcome. Interphase FISH studies from various parts of the world have reported variable incidence (40 - 66%) of cytogenetic abberations. However, there is insufficient published data from Indian subcontinent addressing the frequency of chromosomal aberrations using interphase FISH in MM patients. Patients and Methods Sixty eight patients clinically diagnosed with multiple myeloma were studied. The retrospective period of recruitment was from Jan 2015 to June 2016. The diagnosis of MM was based on serum electrophoresis and immunofixation, bone marrow plasmacytosis, and end organ involvement. Interphase FISH analysis was performed on bone marrow samples using specific DNA probes- Del 13q14.3 (LSI D13S25) , t (4;14) ( Kreatech IgH/ FGFR3 DC-DF), t (11;14) (Zytovision directly labeled IgH/CCND1 DC-DF), t (14;16) (Kreatech IgH/ MAF DC-DF), Del 17p13.1( LSI TP53). A total of two hundred nuclei were enumerated for each FISH Panel probe and cut off for detection of deletion/ fusion signal in normal individuals was taken as 3%. An interim analysis of treatment protocols was also done. Results A total of 68 cases with MM were evaluated which included 55 males and 13 females. We report a median age of 58 years (37-86 years). Interphase FISH analysis was done in all patients. Out of sixty eight patients, 23 (33.82%) patients had one genetic abnormality. Results revealed that deletion 13q14.3 was the most frequent aberration. Out of 68 patients, 10 patients have 13q14 (14.7%) abnormality. This includes 70% males and 30% females. In addition absence of p53 at 17p13 was detected in 8/68 (11.8%) patients. Similarly 11q13 abnormality was observed in 3/68 (4.4%). IgH (14q32) aberrations were noted in 2/68 (2.94%) patients. Of which t(4;14) was detected in these patients, whereas none of them showed t(14;16). More than one chromosomal aberrations were present in 4 patients. Data for serum β2-microglobulin at the time of presentation could be evaluated in 52 patients only. Most of the patients 40(76.9%) belonged to ISS stage 3. From the available data, 4 patients with ISS stage 3 had high risk chromosomal abnormality whereas 3 patients with ISS stage 2 and none of the patient of ISS stage I disease had high risk chromosomal abnormality. A total of 40 patients received cyclophosphamide, bortezomib and dexamethasone as the primary treatment whereas 23 patients received Bortezomib, lenalidomide and dexamethasone based therapy. Post 2 cycles of cyclophosphamide based therapy showed an overall response rate (CR + VGPR) of 87.5% whereas in case of lenalidomide based therapy the overall response rate was 91%. Thirteen patients underwent autograft after durable response, out of which one had a clinical relapse within 3 months. Median survival can only be commented on further follow up. Conclusion In comparison to the west, the frequency of chromosomal aberrations are different and much less in India whereas the studies of median survival is comparable. An early age of presentation in Indian subcontinent is another issue to be addressed as we know that secondary mutations accumulate with increasing age, but a younger population presenting with same severity of disease needs exploration of additional abnormalities in India. Being a resource constraint country and non availability of molecular lab at every place, evaluation of each patient is difficult, however increasing awareness of the role of biology in the management of MM is inspiring the clinicians for detailed evaluation and close follow up of these patients. Certainly, larger trials are required to understand the biology of this disease in the country. Disclosures No relevant conflicts of interest to declare.

scholarly journals Chromosomal analysis of Breeding bulls using lymphocyte culture

2012 ◽  
Vol 29 (1) ◽  
pp. 17-21 ◽  
Author(s):  
D J Patel ◽  
A J Patel ◽  
R K Patel ◽  
P R Parekh
Keyword(s):  
Chromosomal Aberrations ◽  
Chromosomal Abnormality ◽  
Water Buffalo ◽  
Chromosomal Abnormalities ◽  
Fragile Site ◽  
Lymphocyte Culture ◽  
Blood Samples ◽  
Regular Screening ◽  
Holstein Friesian ◽  
Consistent Feature

Chromosomal aberrations or abnormal karyotypes could be one reason for reproductive failure in breeding bulls. The objective of the study was to detect chromosomal abnormalities and their relation with fertility problem in cattle and water   buffalo breeding bulls. Blood samples were collected from 30 buffalo bulls and 23 Holstein or Holstein-Friesian cross bred bulls for lymphocyte culture. No gross chromosomal abnormality was detected. However, a few samples exhibited polyploidy, premature centromeric division, chromosomal fragmentation, aneuploid cells, fragile site, chromatid gaps or breaks. These aberrations were not consistent feature in a particular animal; therefore, the aberrations may not have obvious effects on fertility. However, such   aberrations should be scored in regular screening as a high percentage of such abnormalities can be associated with reduced fertility. DOI: http://dx.doi.org/10.3329/bvet.v29i1.11885 Bangl. vet. 2012. Vol. 29, No. 1, 17-21 

Complementary Diagnostic and Prognostic Value of Parallel Karyotyping and Molecular Diagnostics in Patients with Acute Leukemias.

Blood ◽  
2005 ◽  
Vol 106 (11) ◽  
pp. 4527-4527
Author(s):  
Anna Ejduk ◽  
Miroslaw Majewski ◽  
Iwona Solarska ◽  
Hanna Makuch-Lasica ◽  
Iwona Kania ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Molecular Diagnostics ◽  
Chromosomal Aberrations ◽  
Risk Group ◽  
Treatment Options ◽  
Molecular Methods ◽  
Fusion Genes ◽  
Rt Pcr ◽  
Acute Leukemias ◽  
Molecular Tests

Abstract Chromosomal aberrations analyzed by cytogenetic and molecular methods are major prognostic factors determining treatment options in patients with acute leukemias. The aim of this study was to compare cytogenetic and molecular methods as diagnostic and prognostic tools in patients with acute leukemias. Sixty one previously untreated patients with acute leukemias (AML - 43, ALL - 18) were studied for the presence of chromosomal translocations and corresponding fusion genes [AML1-ETO t(8;21), CBFB-MYH11 inv(16), PML-RARA t(15;17), BCR-ABL p190, p210 t(9;22), MLL-AF4 t(4;11), TEL-AML1 t(12;21), E2A-PBX1 t(1;19), SIL-TAL1 del(1)] using both molecular (RT-PCR, nested PCR) and cytogenetic (GTG) methods. Molecular diagnostics was performed from RNA isolated from bone marrow samples according to BIOMED-1 protocol. Cytogenetic studies were carried out with classical GTG and FISH methods. G-banded mitoses of bone marrow specimen were analysed according to ISCN. Chromosomal aberrations were found in 32.8% patients using GTG method while the parallel molecular tests revealed related fusion genes in 50.8% patients. In 8.5% patients cytogenetic analysis was not performed because of lack of metaphases in cultured cells. All cytogenetic aberrations found in GTG were also confirmed in RT-PCR. Stratification into cytogenetic risk groups was performed after applying combined analysis of karyotyping and molecular tests. Low cytogenetic risk group consisted of 32.8% patients including 11.5% diagnosed with GTG and additionally 21.3% patients after applying molecular tests. The intermediate and high cytogenetic risk group consisted of 32.8% and 34.4% respectively using combined cytogenetic and molecular diagnostics. In low cytogenetic risk group, 85% of patients achieved complete remission (CR), early deaths were found in 15% and none of the patients presented primary chemotherapy resistance. In intermediate risk group CR were obtained in 80%, chemoresistance in 10% and early deaths were observed in 10% of patients. In high cytogenetic risk group, CR were achieved in only 23.8% and chemoresistance occured in 76.2% of the patients. In conclusion we suggest that molecular and cytogenetic tests are complementary methods and should be used in parallel in the initial diagnosis of patients with acute leukemias. This seems to be critical for obtaining the accurate diagnosis, cytogenetic risk assessment and choosing an optimal treatment options.

Comparative Genomic Hybridization on Immunophenotypically Pure, Flow Sorted Plasmocyte Populations Shows an Improved Detection of Chromosomal Abnormalities in Monoclonal Gammopathy of Undetermined Significance and Multiple Myeloma.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 3404-3404
Author(s):  
Brigitte Maes ◽  
Sabine Franke ◽  
Greet Voets ◽  
Karen Hensen ◽  
Hanne Jongen ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Bone Marrow ◽  
Comparative Genomic Hybridization ◽  
Monoclonal Gammopathy ◽  
Chromosomal Abnormalities ◽  
Oligonucleotide Primer ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Degenerate Oligonucleotide ◽  
Undetermined Significance

Abstract Multiple myeloma (MM) is a clonal plasmocyte disorder often preceded by a premalignant condition, monoclonal gammopathy of undetermined significance (MGUS). Chromosomal abnormalities in MM are complex, of which some are at present considered the most important prognostic indicators in MM. Their role in the pathogenesis of MM and in the transformation from MGUS towards MM is however not fully understood, at least partly due to the low-level bone marrow infiltration hampering cytogenetic analysis. In this study, a unique combination of techniques was used to allow whole genome screening for numerical chromosomal abnormalities of immunophenotypically pure, aberrant plasmocyte populations selected from the bone marrow by flow cytometry. Fourteen bone marrow samples from patients with either MM (n= 11) (first diagnosis or relapsing) or MGUS (n=3), with plasmocyte percentages as low as 1 % (range 1 – 57 %), were analyzed. Aberrant/monoclonal plasmocyte populations were identified based on the expression of CD56 and/or light chain restriction within a CD138+/CD38++ gate and sorted using a FACSAria® (BD, US). Whole genomic DNA was extracted from the CD56+or−/κ or λ+ plasmocyte populations, amplified with degenerate oligonucleotide primer-PCR and used for comparative genomic hybridization (CGH). CGH results were confirmed by interphase fluorescent in situ hybridization. All cases (MM and MGUS) showed the presence of multiple chromosomal abnormalities with a minimum of 5 each. All chromosomes were at least one time involved. Relapsing MM showed a mean number of chromosomal changes of 10 compared to 7 and 6 in newly diagnosed MM and MGUS cases respectively, suggesting karyotypic instability during the course of the disease. The presence of chromosomal aberrations known to be frequently occurring in MM, was confirmed such as gains of 1q (4/11, 36%), 7q (5/11, 45%) and 5q11-q32 (7/11, 64%) and losses of 13q (6/11, 55 %) and 16q (4/11, 36%). This study also showed a high incidence of chromosomal abnormalities not previously or only rarely described in MM, such as gains of 4q11-q22 (9/11, 82 %) and 8q21-q23 (5/11, 45%) and loss of 20q (5/11, 45 %). Some abnormalities were detected in both MM and MGUS, such as gain of 5q and loss of 16q, and may be considered very early, primary aberrations. Gain of 4q11-q22 was detected in almost all MM cases but in none of the MGUS cases, suggesting this abnormality might be involved in disease progression. These results indicate a higher complexity and diversity of chromosomal abnormalities in both MM and MGUS, than has already been described. CGH on flow sorted, immunophenotypically pure, aberrant plasmocytes allows an adequate genetic analysis of MGUS, which should ultimately result in the identification of genetic changes involved in the transformation of MGUS towards MM.

scholarly journals G-banding analysis of complex aneuploidy in multiple myeloma bone marrow cells

Blood ◽  
1976 ◽  
Vol 47 (1) ◽  
pp. 69-77 ◽  
Author(s):  
P Philip ◽  
A Drivsholm
Keyword(s):  
Multiple Myeloma ◽  
Bone Marrow ◽  
Chromosomal Abnormalities ◽  
Bone Marrow Cells ◽  
Clonal Evolution ◽  
Banding Technique ◽  
Chromosome Loss ◽  
Banding Analysis ◽  
Myeloproliferative Diseases ◽  
Marrow Cells

Abstract Chromosome studies with the banding technique have been performed in a considerable number of cases of myeloproliferative diseases, but technical difficulties have so far prevented detailed studies of chromosomal abnormalities in multiple myeloma. The karyotypes of bone marrow cells from two patients with multiple myeloma have been analyzed by a trypsin-Giemsa banding technique. Evidence is given for clonal evolution which in one patient has probably occurred by cell fusion and subsequent chromosome loss. Eight different marker chromosomes are characterized. Nonrandom chromosomal participation in the translocations and the existence of specific vulnerable points on chromosomes 1, 3, and 16 are suggested.

scholarly journals Correlation between prognosis and bone marrow chromosomal patterns in children with acute nonlymphocytic leukemia: similarities and differences compared to adults

Blood ◽  
1979 ◽  
Vol 54 (4) ◽  
pp. 818-823 ◽  
Author(s):  
WF Benedict ◽  
M Lange ◽  
J Greene ◽  
A Derencsenyi ◽  
OS Alfi
Keyword(s):  
Bone Marrow ◽  
Median Survival ◽  
Chromosomal Abnormalities ◽  
Adult Patients ◽  
Bone Marrow Sample ◽  
Acute Nonlymphocytic Leukemia ◽  
Chromosomal Complement ◽  
Similarities And Differences ◽  
Chromosomal Changes

Abstract The chromosomal complement of 28 children with the diagnosis of acute nonlymphocytic leukemia (ANLL) were examined. An abnormal cytogenetic pattern was found in 50% of these patients, which is similar to the results in adults with ANLL. Unlike the reports in adult patients, however, no specific chromosomal changes were found. This observation may imply that the etiology and mechanisms by which abnormal clones develop in ANLL could differ significantly between children and adults. Those patients with chromosomal abnormalities in their initial bone marrow sample had a median survival of 7.1 mo, whereas those with a normal diploid pattern in their bone marrow had a median survival of 20.5 mo (1-sided, p = 0.04). If all metaphases were abnormal, the median survival was only 3 mo.

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