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PubMed1999

Monosomy 13 is associated with the transition of monoclonal gammopathy of undetermined significance to multiple myeloma. Intergroupe Francophone du Myélome.

Chromosomal abnormalities are present in most (if not all) patients with multiple myeloma (MM) and primary plasma cell leukemia (PCL). Furthermore, recent data have shown that numerical chromosomal changes are present in most individuals with monoclonal gammopathy of undetermined significance (MGUS). Epidemiological studies have shown that up to one third of MM may emerge from pre-existing MGUS. To clarify further possible stepwise chromosomal aberrations on a pathway between MGUS and MM, we have analyzed 158 patients with either MM or primary PCL and 19 individuals with MGUS using fluorescence in situ hybridization (FISH). Our FISH analyses were designed to detect illegitimate IGH rearrangements at 14q32 or monosomy 13. Whereas translocations involving the 14q32 region were observed with a similar incidence (60%) in both conditions, a significant difference was found in the incidence of monosomy 13 in MGUS versus MM or primary PCL. It was present in 40% of MM/PCL patients, but in only 4 of 19 MGUS individuals. Moreover, whereas monosomy 13 was found in the majority of plasma cells in MM, it was observed only in cell subpopulations in MGUS. It is noteworthy that, in a group of 20 patients with MM and a previous MGUS history, incidence of monosomy 13 was 70% versus 31% in MM patients without a known history of MGUS (P =.002). Thus, this study highlights monosomy 13 as correlated with the transformation of MGUS to overt MM and may define 2 groups of MM with possible different natural history and outcome, ie, post-MGUS MM with a very high incidence of monosomy 13 and de novo MM in which other genetic events might be involved. Serial analyses of individuals with MGUS will be needed to validate this model.

Aged↗
PubMedDate not supplied

Bone marrow monosomy 7: hematologic and clinical manifestations in childhood and adolescence.

The hematologic manifestations and clinical course are described for six children and adolescents with bone marrow monosomy 7. One child with secondary acute myelogenous leukemia had monosomy 7 plus a marker chromosome; the remaining patients had marrow monosomy 7 as the only karyotypic abnormality. The hematologic abnormalities were diverse, but the majority of patients had a smoldering preleukemic or myeloproliferative phase. Leukemic blasts were either undifferentiated or demonstrated evidence of myeloid differentiation. All patients responded poorly to antileukemic therapy. Bone marrow monosomy 7 was observed in one patient with severe marrow hypoplasia. Antileukemic therapy in another patient with greater than 30 per cent marrow blasts was associated with the development of a bone marrow myeloproliferative disorder with persistence of the monosomy 7 karyotype. We speculate that monosomy 7 may be a specific marker for a pluripotent hematopoietic stem cell abnormality that is associated with either blastic leukemia or a myeloproliferative disorder.

Acute Disease↗
PubMedDate not supplied

[Effect of monosomy of the autosomes on the preimplantation stages of embryogenesis in laboratory mice].

The effects of monosomy for the autosomes 1, 2, 3, 5, 6, 16 and 19 were studied in mice with single or double Robertsonian translocations. The monosomy for different autosomes affects the preimplantation development of the mouse embryos in different ways. The monosomy for the autosomes 1, 3, 6, 16 or 19 does not affect cleavage, compactization or blastulation and is, in some cases, even compatible with the implantation. The most these embryos are eliminated at the blastocyst stage (monosomy for the autosomes 3, 6 or 19) or, sometimes, at the postimplantation stages (1 or 16). The monosomy for the autosomes 2 or 5 is realized during cleavage causing the developmental delay, pathological changes in the nuclei of blastomeres and elimination at the morula stage. The results obtained suggest differential activity of chromosomes at the preimplantation stages of embryogenesis. Possible reasons for the early death of the embryos with particular types of monosomy are discussed. A hypothesis of mutual activation of the homologous autosomes at the early developmental stages is put forward. According to this hypothesis, the loci of a single unpaired autosome, especially of paternal origin, remain inactive during the early embryogenesis.

Aneuploidy↗
PubMed1993

The effects of X monosomy on brain development: monozygotic twins discordant for Turner's syndrome.

Monosomy for the X chromosome is the most frequent cause of Turner's syndrome, a common clinical syndrome associated with particular physical and neurobehavioral features. The results from comprehensive assessment of prepubertal monozygotic female twins discordant for X monosomy are presented. Zygosity was established with DNA Fingerprinting and no evidence of chromosomal mosaicism was seen in either child. Physical features in the affected twin were relatively mild with respect to the full spectrum of physical malformations and disabilities associated with Turner's syndrome. The neurobehavioral phenotypes of the twins were compared. Although both sisters scored in the superior range of intelligence, the affected twin's Performance IQ was 18 points less than her sister, whereas Verbal IQ showed only a 3-point difference between the sisters. Other relative differences were noted within the executive, visuospatial, and visuomotor domains of function. Behavioral evaluation indicated greater problems with attention, hyperactivity, and anxiety in the affected twin. Quantitative analysis of brain anatomy revealed evidence of both general and regional effects of X monosomy on neurodevelopment. Cerebrospinal fluid volume was increased by 25% in the affected twin compared with her sister with a corresponding decrease in gray matter volume. The right frontal, right parietal-occipital, and left parietal-perisylvian regions showed the greatest discrepancy between the sisters with respect to increased cerebrospinal fluid and decreased gray matter volumes in twin with X monosomy. Differences in the posterior fossa were also noted with a 50% relative increase in the volumes of the fourth ventricle and cisterna magna and a 10 to 15% relative reduction in size of the cerebellar vermis, pons, and medulla in the affected twin. The association between the neurobehavioral and neuroanatomical findings in the affected twin is discussed. The unique nature of the naturally occurring genetic phenomenon seen in this twin pair provides an opportunity to more fully elucidate the neurobehavioral phenotype associated with X monosomy and Turner's syndrome.

Brain↗
PubMed2005

Loss of heterozygosity of 1p in uveal melanomas with monosomy 3.

Gains and losses of chromosomes 1, 3, 6 and 8 are nonrandom chromosomal aberrations in uveal melanoma. Monosomy 3 is the most frequent abnormality and is associated with poor prognosis. To identify regions of allelic loss on the short arm of chromosome 1 and to investigate if these alterations contribute to uveal melanoma progression, we performed microsatellite analysis of 10 loci in 70 uveal melanomas. A total of 51 tumors were obtained from patients with clinical follow-up data, 19 tumors were from recent patients without follow-up. Loss of heterozygosity (LOH) of at least 1 marker was more frequent in tumors with monosomy 3 (40%) than in tumors with disomy 3 (10%). In particular, loss of the entire short arm of chromosome 1 was only observed in tumors with monosomy 3 (p = 0.0001). By comparing the extent of 1p LOH in all tumors with monosomy 3, we were able to define a smallest region of overlap (SRO) of approximately 55 Mb, which is flanked by markers D1S507 and D1S198. On the basis of our data and published cytogenetic data, we propose that 1p31 harbors genes involved in the progression of uveal melanoma with monosomy 3.

Chromosome Mapping↗
PubMed1993

Detection of monosomy 7 by fluorescence in situ hybridization in acute nonlymphocytic leukemia and myelodysplastic syndrome.

Fluorescence in situ hybridization (FISH) with a chromosome 7 specific alpha satellite DNA probe was used to detect monosomy 7 in interphase and metaphase cells obtained from patients with myelodysplastic syndrome (MDS) and acute nonlymphocytic leukemia (ANLL). Chromosome analysis revealed monosomy 7, either alone or as part of a complex chromosome abnormality, in all cell samples. FISH analyses of 12 marrow samples and a blood sample using a chromosome 7 specific alpha satellite DNA probe revealed a single fluorescence spot in 80.5-97.5% of interphase cells indicating monosomy 7. In contrast, 83.5-92.0% of the same cells had two copies of chromosome 17 as two fluorescent spots were detected using a chromosome 17 specific alpha satellite DNA probe used as a positive control. The proportion of interphase cells with monosomy 7 did not correlated with the percentage of metaphase cells with monosomy 7 detected by conventional karyotyping or with the percentage of blast cells in the bone marrow.

Adult↗
PubMed1993

Combination of classical and interphase cytogenetics to investigate the biology of myeloid disorders: detection of masked monosomy 7 in AML.

Numerical abnormalities of chromosome 7 were detected by using fluorescence labeled in situ hybridization (FISH) procedure with a centromere-specific probe in four cases of acute myeloid leukemia (AML) and three cases of myelodysplastic syndromes (MDS). Comparison of these results with classical cytogenetic (CC) data demonstrated a good correlation between the two methods. FISH confirmed the finding of monosomy 7 in all patients who demonstrated this abnormality by CC. Two AML patients who did not show monosomy 7 by CC were unexpectedly found to contain this abnormality in 39.8% and 17% cells when examined by FISH. Given that our modified FISH method consistently yielded > 96% hybridization efficiency, these findings constitute an unexpected but real presence of monosomy 7 in a substantial number of interphase cells that had remained undetected by classical karyotyping. Finally, a number of maturing myeloid cells including granulocytes also demonstrated monosomy 7 by FISH, thereby confirming the ability of malignant cells to undergo differentiation. We conclude that FISH constitutes a highly sophisticated molecular technique which can be extremely useful in select cases for detecting 'masked monosomy 7' as well as helping to determine the lineage of terminally mature cells in AML, thereby providing a handle on the effects of cytokines or chemotherapy on normal vs leukemic clones.

Chromosomes, Human, Pair 7↗
PubMed1996

Hidden monosomy 7 in acute myeloid leukemia and myelodysplastic syndrome detected by interphase fluorescence in situ hybridization.

Fifty patients [25 acute myeloid leukemia (AML) and 25 myelodysplastic syndrome (MDS)], without monosomy 7 according to conventional cytogenetics, were re-examined by fluorescence in situ hybridization (FISH). Eleven (44.0%) patients with AML and nine (36.0%) with MDS showed hidden monosomy 7. Two samples who had both monosomy 7 and iso chromosome 17 were analyzed by dual color FISH to identify their clonal origin, and showed that these two abnormalities can occur together or independently. Only one of 16 MDS patients without monosomy 7 transformed into AML whereas four of eight MDS patients with the hidden monosomy 7 transformed into AML, suggesting patients with this abnormality are more likely to undergo transformation to AML.

Adult↗
PubMed1994

High incidence of monosomy 18 in lymphoid malignancies that have bone marrow and peripheral blood involvement.

We studied the incidence of numerical chromosome 18 abnormalities in 107 patients with lymphoid malignancies by fluorescence in situ hybridization (FISH) using a directly conjugated centromeric probe for chromosome 18. Samples were obtained by fine needle aspiration of diseased nodes, bone marrows or peripheral blood. Monosomy 18 was more common in chronic lymphocytic leukemia (43%), small lymphocytic lymphoma (28%), and follicular lymphomas (12.5%) than in diffuse lymphomas (5.3%; p < 0.01). Monosomy 18 was detected in 9.7-17.1% of the cells in non-Hodgkin's lymphoma (NHL) (background, 5.4%; 99% CI, 4.2%-6.6%) and in 8%-16.7% (median, 10%) of the cells in (CLL) (background, 3.4%; 99% CI, 2.5%-4.3%). All patients with monosomy 18 were found to have bone marrow involvement. Of all untreated patients who had disease involving the bone marrow, 32% were found to have monosomy 18. Trisomy 18 was detected in 3.6%-48.2% of the cells in NHL (background, 0.9%; 99% CI, 0.2%-1.6%) and was most common in diffuse large-cell lymphoma (34%) and follicular lymphomas (31%). None of the patients with small lymphocytic lymphoma or chronic lymphocytic leukemia had trisomy 18. There was no correlation between trisomy 18 and response to treatment or clinical presentation. In this study, monosomy 18 was observed frequently in patients with lymphoid malignancies that involve the bone marrow and peripheral blood. Our data suggest that important gene(s) located on chromosome 18 may be involved in homing of the malignant lymphocytes to the bone marrow and peripheral blood.

Adult↗
PubMed2006

Fluorescent in situ hybridization for monosomy 3 via 30-gauge fine-needle aspiration biopsy of choroidal melanoma in vivo.

OBJECTIVE: To report the feasibility of intraoperative transscleral fine-needle aspiration biopsy at plaque surgery to obtain cells for monosomy 3 analysis in patients with choroidal melanoma. DESIGN: Consecutive interventional case series. PARTICIPANTS: Eighteen patients (18 eyes) with choroidal melanoma who had fine-needle aspiration biopsy performed with a 30-gauge needle at time of iodine 125 plaque placement. INTERVENTION: Cytology and cytogenetic analysis for monosomy 3 were obtained from biopsy specimens. MAIN OUTCOME MEASURES: Cytology, cytogenetic analysis for monosomy 3, and complications and feasibility of transscleral fine-needle aspiration biopsy of choroidal melanoma in vivo. RESULTS: Fine-needle aspiration biopsy was diagnostic of choroidal melanoma in 14 of 18 cases and resulted in viable cell cultures for fluorescent in situ hybridization (FISH) analysis in 9 cases. Fluorescent in situ hybridization for monosomy 3 was positive in 4 of the 9 cases. One patient had a mild vitreous hemorrhage. Tumors between 2 and 3 mm in height and those that yielded cells that did not attach in culture were most likely to have insufficient growth for FISH analysis. CONCLUSIONS: Transscleral fine-needle aspiration biopsy and FISH for monosomy 3 may provide important prognostic information on patients who undergo plaque radiotherapy for choroidal melanoma.

Adult↗
PubMed2001

Masked monosomy 7 in myelodysplastic syndromes is uncommon and of undetermined clinical significance.

Masked monosomy 7, i.e. detected by FISH but not by conventional cytogenetics, has been reported in varying frequency in MDS. To establish the prevalence and possible clinical significance of the aberration, we studied the 123 previously karyotyped MDS patients using FISH and a DNA probe specific for chromosome 7. Metaphase cytogenetics revealed ten patients (8%) with monosomy 7 (6 RAEB and 4 RAEB-t). FISH confirmed this result and detected four more cases (4%) with masked monosomy 7 (3 RA and 1 RARS). Thus, masked monosomy 7 is less common than has been suggested, and does not seem to carry the same prognostic weight as monosomy 7 diagnosed by metaphase cytogenetics.

Adult↗
PubMed2000

Mild phenotype in two siblings with distal monosomy 12p13.31-->pter.

We report two sibs with trisomy for the region 2p25.1--> pter and monosomy for the region 12p13.31--> pter, due to adjacent-1 segregation of a maternal balanced reciprocal translocation, 46,XX,t(2;12)(p25.1;p13.31). These sibs presented with a mild phenotype, but nevertheless showed features of each of the contributing aneusomies. Monosomy 12p has previously been considered to have a variable and indistinct phenotype. Comparison of these patients with previous reports showed that many features, including microcephaly, facial dysmorphia, developmental and growth delay and dental and digital anomalies are frequently associated with monosomy for 12p. Many of these features are common to other aneusomies, thereby mitigating against a distinct 12p monosomy syndrome at this time. However, the combination of digital and dental anomalies may suggest the presence of this particular monosomy. The proband and his sister had some of the more non-specific features of 2p trisomy syndrome, and comparison with previous reports suggested that the characteristic 2p trisomy syndrome is more usually associated with larger or more proximal trisomies of 2p.

Child↗
PubMed1994

Involvement of eosinophils in acute myeloid leukaemia with monosomy 7 demonstrated by fluorescence in situ hybridization.

Monosomy 7 is the commonest monosomy in acute myeloid leukaemia (AML). A patient with AML and monosomy 7 was investigated by fluorescence in situ hybridization. Monosomy 7 could be demonstrated in the blasts and also in mature eosinophils, but apparently not in lymphocytes. Monosomy 7 may occur in a multipotential myeloid progenitor cell as part of the multi-step leukaemogenic process.

Aged↗
PubMed1993

Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21.

The occurrence of complete autosomal monosomy in man is extremely rare and generally considered to be incompatible with life. Since the introduction of banding techniques in human cytogenetics, several cases of presumptive monosomy for chromosome 21 have nevertheless been reported. However, it has been suggested that most, if not all, of these cases may represent unbalanced translocations or other structural aberrations resulting in only partial monosomy 21. Here we described a patient in whom full monosomy 21 was initially diagnosed by routine karyotyping. Re-examination with a combination of high resolution banding technique, chromosome painting and DNA polymorphism analysis demonstrated the presence of an unbalanced translocation between the long arms of chromosome 11 and 21, respectively. Consequently, the case was re-classified as a partial monosomy for the proximal long arm of chromosome 21.

Chromosome Banding↗
PubMed1998

Monosomy 22q11 in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries.

OBJECTIVE: To describe the morphology of the pulmonary arteries in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries with and without monosomy 22q11. DESIGN: A retrospective analysis of all patients with this congenital heart defect who are being followed at the University Children's Hospital Erlangen. SETTING: A tertiary referral centre for paediatric cardiology and paediatric cardiac surgery. PATIENTS: 21 patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries. Monosomy 22q11 was diagnosed by fluorescent in situ hybridisation using the D22S75 probe (Oncor). The morphology of the pulmonary arteries was assessed on the basis of selective angiograms. RESULTS: 10 patients (48%) were shown to have a microdeletion in 22q11 (group I). There was no difference with respect to the presence of confluent central pulmonary arteries between these patients (80%) and the remaining 11 patients (group II) without monosomy 22q11 (91%). Patients of group I, however, more often had arborisation anomalies of the pulmonary vascular bed (90% in group I v 27% in group II). Because of the more severe abnormalities of the pulmonary arteries, a biventricular repair had not been possible in any of the children with monosomy 22q11, though repair had been carried out in 64% of the children in group II. CONCLUSION: The developmental disturbance caused by the monosomy 22q11 seems to impair the connection of the peripheral pulmonary artery segments to the central pulmonary arteries in patients with pulmonary atresia, ventricular septal defect, and major aortopulmonary collateral arteries, resulting in a lower probability of biventricular repair.

Adolescent↗
PubMed2006

Aplastic anemia and monosomy 7-associated dysmegakaryocytopoiesis.

Aplastic anemia (AA) is marrow failure due to an inadequate number of hematopoietic cells in the marrow. Prior reports have described a more aggressive clinical course in aplastic anemia with monosomy 7. We report 3 pediatric cases of AA with normal cytogenetics followed by acquisition of monosomy 7. Bone marrow biopsies were initially diagnostic of AA but later showed monosomy 7 and an increased number of megakaryocytes with small hypolobated nuclei. Immunohistochemical stains for CD61 highlighted the marked dysmegakaryocytopoiesis. The marrow blast percentage was increased in only 1 patient with 4.6% blasts. The 3 patients underwent bone marrow transplantation, and each has remained disease free for 7 to 18 months after transplantation. Pediatric patients with AA and normal cytogenetics may develop monosomy 7 with a myelodysplastic syndrome, unclassified. Patients with AA and monosomy 7 should be evaluated for dysmegakaryocytopoiesis.

Adolescent↗
PubMed1999

The chromosome 10 monosomy common in human melanomas results from loss of two separate tumor suppressor loci.

Alteration of chromosome 10 is common in human melanomas and usually entails the loss of an entire chromosome homologue. Although the reasons for monosomy in cancer has remained obscure, one possibility is that multiple tumor suppressor genes residing on this chromosome must be lost in unison during tumor progression, and this is easier to accomplish by chromosome segregation rather than by multiple mutational and/or deletion events. The localization and identification of these genes has been hampered by the monosomy itself, which has resulted in a paucity of small defining deletions in tumors. Here, we have addressed the issue of monosomy in tumor development by using functional complementation mapping to localize and demonstrate the existence of different melanoma suppressor genes on chromosome 10 and assigned each locus a distinct tumorigenic phenotype. We report that a locus on 10q distal to 10q23.1, likely involving the PTEN tumor suppressor, causes a severe reduction in the kinetics of melanoma tumor formation in animals. In contrast, a previously unrecognized region at 10p15.3 has a distinct, but lesser, effect on in vivo melanoma growth. Thus, the loss of both of these regions, which is accomplished by tumor-associated monosomy, provides a significant growth advantage over the individual loss of either region, thereby explaining the monosomy observed in sporadic melanomas.

Animals↗
PubMed2000

[Habitual abortion and high frequency of low frequent X chromosome monosomy mosaicism: detection by interphase FISH analysis of buccal mucosa cells and lymphocytes].

FISH analysis using X alpha satellite probe was performed to the nuclei of lymphocytes obtained from fourteen women with having a history of habitual abortion for unknown causes(WHA) and from 65 normal control women(NW), in order to determine whether low frequency X monosomy mosaicism is one of the factors of habitual abortion. In parallel, the nuclei of buccal mucosa from 8 of WHA and 65 NW were also examined. Five hundreds of the interphase nuclei in each sample were observed. As results, the frequency of X monosomy in NW found in the lymphocytes or buccal mucosa was ranged from 0-3.2%(mean 1.59%, SD 0.69%) or from 0-3.2%(mean 1.24%, SD 0.85%), respectively. However, the occurrence of X monosomy in WHA was significantly higher compared with that of NW; i.e., 0.8-5.8%(mean 3.21%, SD 1.67) for lymphocytes, and 1.8-7.4%(mean 4.45%, SD 1.73%) for buccal mucosa. These results allowed us to define the reference intervals to discriminate WHA from NW were less than 2.97% or 2.94% for lymphocytes or buccal mucosa, respectively. Based on the reference intervals defined above, the high frequency of X monosomy mosaicism was actually found in 9 of 14 WHA. These results altogether strongly suggested that the low frequency X monosomy mosaicism was one of the factors of habitual abortion.

Abortion, Habitual↗