MyMedR

18q21 Rearrangement and trisomy 3 in extranodal B-cell lymphomas: a study using a fluorescent in situ hybridisation technique

Tai YC, Tan JA, Peh SC

Virchows Arch., 2004 Nov;445(5):506-14.

PMID: 15365830

t(11;18)(q21;q21) Translocation and trisomy 3 are the most common chromosomal aberrations reported in low-grade mucosa-associated lymphoid tissue (MALT) lymphoma. The current study aims to investigate the frequency of these chromosomal aberrations in a series of 52 extranodal B-cell lymphomas. The tumours were categorised into three histological grades: grade 1 (low-grade lymphoma of MALT type), grade 2 [diffuse large B-cell lymphoma (DLBCL) with MALT component] and grade 3 (DLBCL without MALT component). Fluorescence in situ hybridisation analyses on paraffin tissue sections were performed using a locus-specific probe for the 18q21 region and a centromeric probe for chromosome 3. The 18q21 rearrangement was detected in 9 of 40 (23%) cases, including 7 of 23 (30%) grade-1 and 2 of 11 (18%) grade-3 tumours. Amplification of the 18q21 region was detected in 10 of 40 (25%) cases, and trisomy 3 was detected in 9 of 34 (26%) cases. Amplification of the 18q21 region may be an important alternative pathogenetic pathway in MALT lymphoma and was found almost exclusively in tumours without 18q21 rearrangement. Our study showed that tumours with 18q21 rearrangement and 18q21 amplification develop along two distinct pathways, and the latter was more likely to transform into high-grade tumours upon acquisition of additional genetic alterations, such as trisomy 3. Trisomy 3 was more frequently found in coexistence with 18q21 abnormalities, suggesting that it was more likely to be a secondary aberration.

Matched MeSH terms: Chromosome Aberrations*

Fulltext Evaluation of the genotoxicity of zerumbone in cultured human peripheral blood lymphocytes

Al-Zubairi AS, Abdul AB, Syam MM

Toxicol In Vitro, 2010 Apr;24(3):707-12.

PMID: 20123012 DOI: 10.1016/j.tiv.2010.01.011

The chromosomal aberrations (CA) assay and micronucleus (MN) test were employed to investigate the effect in vitro of zerumbone (ZER) on human chromosomes. ZER is a sesquiterpene compound isolated from the rhizomes of wild ginger, Zingiber zerumbet Smith. The rhizomes of the plant are employed as a traditional medicine for some ailments and as condiments. ZER has been shown to have anti-cancer and apoptosis-inducing properties against various human tumour cells. It has also been shown to be active in vivo against a number of induced malignancies. Studies on ZER genotoxicity in cultured human peripheral blood lymphocytes (PBL) have not been reported so far. Therefore, the present study was undertaken to investigate the ability of ZER to induce chromosomal aberrations and micronuclei formation in human lymphocytes in vitro. Human blood samples were obtained from four healthy, non-smoking males aged 25-35years. Cultures were exposed to the drug for 48h at four final concentrations: 10, 20, 40 and 80 microM. Mitomycin C (MMC) was used as a positive control. The results of chromosomal aberrations assay showed that ZER was not clastogenic, when compared to untreated control, meanwhile MN test results showed a dose-dependent increase in MN formation. The overall clastogenic effect of ZER on human PBL was statistically not significant. In conclusion, ZER is a cytotoxic but not a clastogenic substance in human PBL.

Matched MeSH terms: Chromosome Aberrations/drug effects

Cytogenetic abnormalities in de novo acute myeloid leukemia in adults: relation to morphology, age, sex and ethnicity - a single center study from Singapore

Enjeti AK, Tien SL, Sivaswaren CR

Hematol. J., 2004;5(5):419-25.

PMID: 15448668

Cytogenetic analysis performed at diagnosis is considered to be the most valuable prognostic factor in acute myeloid leukemia (AML). Large systematic studies of cytogenetic abnormalities in AML patients from Southeast Asia are not available. The karyotypic patterns in AML patients from a single center in Singapore were studied and compared with reports from other regions of the world to identify possible geographic heterogeneity.

Matched MeSH terms: Chromosome Aberrations*

Fulltext Down syndrome: multimodality imaging of associated congenital anomalies and acquired diseases

Tan AP

Med J Malaysia, 2013 Dec;68(6):482-9.

PMID: 24632922

Down syndrome (Trisomy 21) is the most common chromosomal abnormality among liveborn infants. It is the most frequent form of intellectual disability caused by a microscopically demonstrable chromosomal aberration. Management requires a multidisciplinary approach to the ongoing evaluation and monitoring for associated congenital anomalies and acquired disorders.Trisomy 21 is characterized by a variety of dysmorphic features, congenital anomalies and associated medical conditions. Knowledge of these associated conditions are important for clinicians involved in the management of these patients. Appropriate radiologic imaging with prompt, accurate interpretation plays an important role in the diagnosis and management of these diseases. The primary goal of this pictorial review is to unravel the radiological findings of these associated conditions.

Matched MeSH terms: Chromosome Aberrations

Chromosome aberration test for hydroxyapatite in sheep

Kannan TP, Nik Ahmad Shah NL, Azlina A, Samsudin AR, Narazah MY, Salleh M

Med J Malaysia, 2004 May;59 Suppl B:168-9.

PMID: 15468871

The present study is aimed at finding the mutagenicity and cytotoxicity of dense form of synthetic hydroxyapatite (Source: School of Materials and Mineral Resources Engineering, Universiti Sains Malaysia) in the blood of sheep. The biomaterial was implanted in the tibia of Malin, an indigenous sheep breed of Malaysia. Blood was collected from the sheep before implantation of the biomaterial, cultured and a karyological study was made. Six weeks after implantation, blood was collected from the same animal, cultured and screened for chromosome aberrations. The mitotic indices and karyological analysis indicated that the implantation of synthetic hydroxyapatite (dense form) did not produce any cytotoxicity or chromosome aberrations in the blood of sheep.

Matched MeSH terms: Chromosome Aberrations*

In vivo chromosome aberration test for hydroxyapetite in mice

Kannan TP, Nik Ahmad Shah NL, Azlina A, Samsudin AR, Narazah MY, Salleh M

Med J Malaysia, 2004 May;59 Suppl B:115-6.

PMID: 15468845

This study evaluates the cytotoxic and mutagenic effect of synthetic hydroxyapatite granules (source: School of Material and Mineral Resources Engineering, Universiti Sains Malaysia) in the bone marrow cells of mice. Mice are exposed to synthetic hydroxyapatite granules, the bone marrow cells are collected and observed for chromosome aberrations. No chromosome aberrations were noticed in the animals exposed to distilled water (negative control) and to the test substance, synthetic hydroxyapatite granules (treatment) groups. Chromosome aberrations were observed in the animals exposed to Mitomycin C (positive control group). There was no indication of cytotoxicity due to synthetic hydroxyapatite granules in the animals as revealed by the mitotic index. Hence, synthetic hydroxyapatite granules are considered non-mutagenic under the prevailing test conditions.

Matched MeSH terms: Chromosome Aberrations*

Mutagenicity of CORAGRAF and REKAGRAF in the Ames test

Suzina AH, Azlina A, Shamsuria O, Samsudin AR

Med J Malaysia, 2004 May;59 Suppl B:105-6.

PMID: 15468840

Mutagenicity of CORAGRAF (natural coral) and REKAGRAF (hydroxyapatite) was tested in Ames test with and without an external metabolic activation system (S9). The test revealed no mutagenic activity of both locally produced osseous substitutes.

Matched MeSH terms: Chromosome Aberrations

Fulltext Supernumerary chromosomes in mosaic Turner syndrome

Thong MK, Manonmani V, Norlasiah IS

Med J Malaysia, 1996 Dec;51(4):487-90.

PMID: 10968041

The finding of a supernumerary or marker chromosome in a karyotype poses difficulty in genetic counselling. The true incidence and significance of this chromosomal aberration is unknown in Malaysia. We report two patients who presented with supernumerary chromosomes in mosaic Turner syndrome.

Matched MeSH terms: Chromosome Aberrations*

Fulltext Common variable immunodeficiency (hypogammaglobulinemia) with an autosomal recessive pattern of inheritance

Lokman MN, George R, Sukumaran S, Nasuruddin BA

Med J Malaysia, 1988 Sep;43(3):237-42.

PMID: 3241582

Matched MeSH terms: Chromosome Aberrations

Fulltext Hereditary ovalocytosis in Malays

George E, Mohandas N, Duraisamy G, Adeeb N, Zainuddin ZA, Teng MS, et al.

Med J Malaysia, 1988 Dec;43(4):327-31.

PMID: 3241598

Matched MeSH terms: Chromosome Aberrations

Clinical spectrum of children receiving palliative care in Malaysian Hospitals

Chong LA, Khalid F, Khoo TB, Teh SH, Kuan GL, Aina Mariana AM, et al.

Med J Malaysia, 2017 02;72(1):32-36.

PMID: 28255137 MyJurnal

INTRODUCTION: Awareness for paediatric palliative care has resulted in the impetus for paediatrician-led palliative care services across Malaysia. However, there is paucity of local data on patients receiving hospital-based paediatric palliative care. We aim to review the clinical spectrum of patients referred to these services.

METHODS: An observational study of children aged between 0-18 years receiving palliative care at 13 hospitals between 1st January and 31st December 2014 was carried out.

RESULTS: There were 315 patients analysed, 90 (28.6%) and 46 (14.6%) were neonates and adolescents respectively. The main ICD-10 diagnostic categories for all patients were identified to be 'Congenital malformations, deformations and chromosomal abnormalities' 117 (37.1%), 'Diseases of nervous system' 76 (24.1%) and 'Neoplasms' 60 (19.0%). At referral 156 (50%) patients had holistic needs assessments. Patients with 'Diseases of nervous system' were assessed to have significantly more physical needs than the other two diagnostic categories. Majority of patients who knew of their diagnosis and prognosis were those with malignancy. Over a fifth of referrals were at their terminal admission. Of 144 who died, 111 (77.1%) had advanced care plans. There was bereavement follow-up in 98 (68.1%) patients.

CONCLUSION: Patients referred for palliative care have varied diagnoses and needs. To ensure all paediatricians are competent to deliver quality care to all children, further education and training initiatives is imperative.

Matched MeSH terms: Chromosome Aberrations

Fulltext Inherited t(9;22) as the cause of DiGeorge syndrome: a case report

Shuib S, Abdul Latif Z, Abidin NZ, Akmal SN, Zakaria Z

Malays J Pathol, 2009 Dec;31(2):133-6.

PMID: 20514857 MyJurnal

DiGeorge syndrome is associated with microdeletion of chromosome 22q11.2. Most cases occur sporadically although vertical transmission has been documented. We report a rare case of DiGeorge syndrome in an 8-year-old girl. Blood sample of the patient was cultured and harvested following standard procedure. All of the 20 cells analysed showed a karyotype of 45, XX, -22, t (9;22) (p23; q11.2). Cytogenetic investigation done on the patient's mother revealed that she was the carrier for the translocation. Her karyotype was 46, XX, t (9;22) (p23; q11.2). Fluorescence in situ hybridisation (FISH) analysis using TUPLE1 and N25 (Vysis, USA) probes showed deletion of the 22q11.2 region in the patient, confirming the diagnosis of DiGeorge syndrome. FISH analysis showed no deletion of the region in the mother.

Matched MeSH terms: Chromosome Aberrations

Complex karyotypic abnormalities in a case of acute myeloid leukaemia--M4Eo

Leong CF, Azma RZ, Cheong SK, Salwati S, Sharifah NA

Malays J Pathol, 2005 Jun;27(1):45-50.

PMID: 16676693

A 25-year-old man was referred to Hospital UKM with a 2-week history of fever, productive cough and loss of appetite. Physical examination revealed an ill-looking, tachypnoeic young man. No obvious lymphadenopathy or organomegaly was noted. Examination of the respiratory system revealed right pleural effusion. Full blood picture demonstrated leukocytosis with 90% blasts, and bone marrow examination confirmed the diagnosis of acute myeloid leukemia (AML) French-American-British (FAB) classification of M4 with eosinophilia. His chromosome karyotyping showed complex karyotypic abnormalities. Cytological examination of the pleural fluid demonstrated numerous blast cells indicating leukemic infiltration of the lungs, which is a rare presentation in AML. He was then started on induction chemotherapy with intravenous daunorubicin and cytarabine. In the midst of treatment, he developed an episode of seizure and cerebro-spinal fluid cytology confirmed central nervous system (CNS) leukaemic infiltration. Additional intrathecal methotraxate was given. Repeat bone marrow examination done on day 15 of chemotherapy showed persistence of excess blasts indicating refractory AML. He was then reinduced with high dose cytarabine but to no avail. The disease progressed and he succumbed about 8 weeks after the initial diagnosis was made. We highlight here a case of AML-M4Eo with complex karyoyptic abnormalities presenting with leukaemic infiltration of the lungs and CNS which had imparted a bad prognosis for this subtype of AML, AML-M4Eo.

Matched MeSH terms: Chromosome Aberrations*

A Case Report of Concurrent IDH1 and NPM1 Mutations in a Novel t(X;2)(q28;p22) Translocation in Acute Myeloid Leukaemia without Maturation (AML-M1)

Raveendran S, Sarojam S, Vijay S, Prem S, Sreedharan H

Malays J Med Sci, 2015 Sep;22(5):93-97.

PMID: 28239274

Acute myeloid leukaemia (AML) is one of the fatal haematological malignancies as a consequence of its genetic heterogeneity. At present, the prediction of the clinical response to treatment for AML is based not only on detection of cytogenetic aberrations but also by analysing certain molecular genetic alterations. There are limited in sights into the contribution, disease progression, treatment outcome, and characterisation with respect to the uncommon chromosomal abnormalities leading to AML. Here, we describe the clinical, morphological, cytogenetic, and mutational findings of a 52-year-old female patient with AML without maturation (AML-M1). Conventional karyotyping and spectral karyotyping (SKY) were done on metaphase chromosomes from bone marrow cells at the time of diagnosis. A mutation analysis was performed on the hotspot regions of various genes, including FLT3, CEBPA, NPM1, RAS, c-KIT, IDH1 and IDH2. Cytogenetic and mutation analyses revealed a novel translocation, t(X;2)(q28;p22), with both NPM1 and IDH1 mutations. To the best of our knowledge, the presence of both NPM1 and IDH1 mutations in t(X;2)(q28;p22) is a novel finding in AML.

Matched MeSH terms: Chromosome Aberrations

The chromosomes of four species of the nasuta complex of Drosophila. I. Chromosome maps and inversion polymorphism

Lambert DM

J Hered, 1976 3 1;67(2):92-8.

PMID: 5483

The salivary chromosomes of four species of the nasuta complex of Drosophila, D. sulfurigaster albostrigata, D, kohkoa, D. albomicans, and D. kepulauana were studied and chromosome maps of each species are presented; the maps of the latter three species are based on the map of D. sulfurigaster albostrigata. Three of the species D. sulfurigaster albostrigata, D. albomicans, and D. kohkoa were shown to be highly polymorphic for chromosomal inversions while the available evidence indicated that D. kepulauana is much less polymorphic. These facts are correlated with the geographic distribution of the species. Transitional homoselection has not been complete in the evolution of three of the species since D. sulfurigaster albostrigata, D. kohkoa, and D. albomicans have a number of naturally occurring polymorphisms in common.

Matched MeSH terms: Chromosome Aberrations*

Fulltext Chromosomal abnormalities and reproductive outcome in Malaysian couples with miscarriages

Pal S, Ma SO, Norhasimah M, Suhaida MA, Siti Mariam I, Ankathil R, et al.

Singapore Med J, 2009 Oct;50(10):1008-12.

PMID: 19907893

This study was done to determine the prevalence of chromosomal abnormalities and the subsequent reproductive outcome in couples who had two or more miscarriages.

Matched MeSH terms: Chromosome Aberrations*

Fulltext Familial complex chromosomal rearrangement in a dysmorphic child with global developmental delay

Ngim CF, Keng WT, Ariffin R

Singapore Med J, 2011 Oct;52(10):e206-9.

PMID: 22009409

We report the unusual case of a dysmorphic child with global developmental delay secondary to a familial complex chromosomal rearrangement (CCR). His chromosomal analysis using G-banding and dual colour fluorescence in situ hybridisation with whole chromosome paint revealed a supernumerary marker chromosome as a result of malsegregation of a familial CCR involving chromosomes 7, 12 and 14. The balanced form of this familial CCR was also carried by the patient's mother and maternal grandmother, both of whom had a history of recurrent spontaneous abortions, as well as his maternal uncle, who was infertile. To the best of our knowledge, this is the first reported case of familial CCR involving chromosomes 7, 12 and 14. This case also highlights the importance of chromosomal analysis in children with dysmorphism and developmental delay as well as in adults who suffer from recurrent spontaneous abortions or infertility.

Matched MeSH terms: Chromosome Aberrations*

Fulltext Birth defects in Singapore: 1994-2000

Tan KH, Tan TY, Tan J, Tan I, Chew SK, Yeo GS

Singapore Med J, 2005 Oct;46(10):545-52.

PMID: 16172775

To study characteristics of birth defect cases among live births, stillbirths and abortions in Singapore between 1994 and 2000.

Matched MeSH terms: Chromosome Aberrations/statistics & numerical data

Fulltext Genetic alterations of chromosome 8 genes in oral cancer

Yong ZW, Zaini ZM, Kallarakkal TG, Karen-Ng LP, Rahman ZA, Ismail SM, et al.

Sci Rep, 2014;4:6073.

PMID: 25123227 DOI: 10.1038/srep06073

The clinical relevance of DNA copy number alterations in chromosome 8 were investigated in oral cancers. The copy numbers of 30 selected genes in 33 OSCC patients were detected using the multiplex ligation-dependent probe amplification (MLPA) technique. Amplifications of the EIF3E gene were found in 27.3% of the patients, MYC in 18.2%, RECQL4 in 15.2% and MYBL1 in 12.1% of patients. The most frequent gene losses found were the GATA4 gene (24.2%), FGFR1 gene (24.2%), MSRA (21.2) and CSGALNACT1 (12.1%). The co-amplification of EIF3E and RECQL4 was found in 9% of patients and showed significant association with alcohol drinkers. There was a significant association between the amplification of EIF3E gene with non-betel quid chewers and the negative lymph node status. EIF3E amplifications did not show prognostic significance on survival. Our results suggest that EIF3E may have a role in the carcinogenesis of OSCC in non-betel quid chewers.

Matched MeSH terms: Chromosome Aberrations

Array comparative genomic hybridization analysis identified the chromosomal aberrations and putative genes involved in Prostate Tumorigenesis of Malaysian men

Nenny Noorina Saaid, Reena Rahayu Md Zin, Siti Aishah Md Ali, Sharifah Noor Akmal Syed Hussain, Zulkifli Zainuddin, Zubaidah Zakaria

Sains Malaysiana, 2014;43:1317-1326.

The identification of chromosomal aberrations in prostate cancer has been widely studied with several known oncogenes and tumor suppressor genes have successfully been discovered. The most frequent aberrations detected in western population were losses in chromosome 5q, 6q, 8p, 13q, 16q, 17p, 18q and gains of 7p/q and 8q. The purpose of this study was to determine the chromosomal aberrations among Malaysian men of Southeast Asia population and discover those potential genes within that chromosomal aberrant region. Thirty-six formalin-fixed paraffin embedded specimens consist of eight organ-confined prostate cancer cases, five with capsular invasion, 14 showed metastasis and nine cases had no tumor stage recorded, were analyzed by array CGH technique. Chromosomal losses were frequently detected at 4q, 6q, 8p, 13q, 18q while gains at 7q, 11q, 12p, 16q and 17q. Gain of 16q24.3 was statistically significant with tumor size. Gains of 6q25.1 and Xq12 as well as losses of 3p13-p1.2 and 13q33.1-q33.3 were significantly correlated with Gleason grade whereas 12p13.31 gain was associated with bone metastasis. Several potential genes have also been found within that aberrant region which is myopodin (4q26-q27), ROBO1 (3p13-p11.2), ERCC5 (13q33.1-q33.3) and CD9 (12p13.31), suggesting that these genes may play a role in prostate cancer progression. The chromosomal aberrations identified by array CGH analysis could provide important clues to discover potential genes associated with prostate tumorigenesis of Malaysian men.

Matched MeSH terms: Chromosome Aberrations

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