Past and recent advances in sugarcane cytogenetics

The Saccharum genus comprises species with large and variable chromosome numbers, leading to challenges in genomic studies and breeding improvement. Cytogenetics, including classical and molecular approaches, has played a central role in deciphering the genome structure, classification, and evolution of the genus Saccharum. The application of fluorescence in situ hybridization using oligonucleotide probes significantly improved our understanding of the complex genomes of Saccharum species. This paper reviews the application and progress of cytogenetic techniques in Saccharum. Future applications of cytogenetics are discussed, as they could benefit both genomic studies and breeding of sugarcane as well as other plants with complex genomes.

Integrated analysis of comorbidity, pregnant outcomes, and amniotic fluid cytogenetics of fetuses with persistent left superior vena cava

BACKGROUND Persistent left superior vena cava(PLSVC)is the most common venous system variant.The clinical characteristics and amniotic fluid cytogenetics of fetuses with PLSVC remain to be further explored.AIM To develop reliable prenatal diagnostic recommendations through integrated analysis of the clinical characteristics of fetuses with PLSVC.METHODS Cases of PLSVC diagnosed using prenatal ultrasonography between September 2019 and November 2022 were retrospectively studied.The clinical characteristics of the pregnant women,ultrasonic imaging information,gestational age at diagnosis,pregnancy outcomes,and amniocentesis results were summarized and analyzed using categorical statistics and the chi-square test or Fisher’s exact test.RESULTS Of the 97 cases diagnosed by prenatal ultrasound,49(50.5%)had isolated PLSVC and 48(49.5%)had other structural abnormalities.The differences in pregnancy outcomes and amniocentesis conditions between the two groups were statistically significant(P<0.05).No significant differences were identified between the two groups in terms of advanced maternal age and gestational age(P>0.05).According to the results of the classification statistics,the most common intrac-ardiac abnormality was a ventricular septal defect and the most common extrac-ardiac abnormality was a single umbilical artery.In the subgroup analysis,the concurrent combination of intra-and extracardiac structural abnormalities was a risk factor for adverse pregnancy outcomes(odds ratio>1,P<0.05).Additional-ly,all abnormal cytogenetic findings on amniocentesis were observed in the comorbidity group.One case was diagnosed with 21-trisomy and six cases was diagnosed with chromosome segment duplication.CONCLUSION Examination for other structural abnormalities is strongly recommended when PLSVC is diagnosed.Poorer pregnancy outcomes and increased amniocentesis were observed in PLSVC cases with other structural abnor-malities.Amniotic fluid cytogenetics of fetuses is recommended for PLSVC with other structural abnormalities.

Appropriate Means to Vulgarize the Human Cytogenetics

Purpose: Insufficient epidemiological data on the prevalence of chromosomal abnormalities may hamper investments in research and interventions for better prevention and treatment of these major threats to the population in numerous countries. The aim of this literature review is to contribute to the popularization of cytogenetics. Methodology: This literature review is a text which contains, analyzes and organizes several referenced articles in French and English which have been selected from electronic databases. It provides a documentation of various activities and progress that have an interest in the field of cytogenetics. Results: In the context of cytogenetics, it is necessary to establish partnerships to strengthen infrastructures and produce quality results. The setting up of cytogenetic services and incentives for participatory research give space to the community in the production of knowledge and innovation, alongside researchers. It’s important to create biobanks, where samples of substances from the human body are collected for use in research into the causes and mechanisms of many diseases and their treatments. To carry out clinical trials aims at assessing the effectiveness of a therapeutic strategy, as is currently the case with the use of cytogenetic tests (karyotype, FISH, etc.) as tool of therapeutic decision and prognostic in cancer biology. The monitoring of the ethic of cytogenetic research projects allows protecting rights, security and welfare of subjects. To solve issues of data management and analysis such as the obstacle to the acquisition of tools and the insufficiency in the training of researchers. Furthermore, dissemination of research results will lead to better understanding of research results, greater public engagement in science and greater social respect for research. Conclusion: Cytogenetics can benefit from these actions such as the development of its research infrastructures and training programs for its workforce as well as the development of its clinical care. All this would have an impact on the population’s state of health.

Current update on molecular cytogenetics, diagnosis and management of gastrointestinal stromal tumors

Gastrointestinal stromal tumors(GISTs)are the most common mesenchymal tumors of the gastrointestinal(GI)tract and are thought to arise from precursors of the interstitial cells of Cajal.GISTs can arise anywhere in the GI tract,but most commonly originate from the stomach and small intestine.The majority of GISTs occur as a result of activating mutations in two receptor protein tyrosine kinases:KIT and/or platelet-derived growth factor receptor-α.Mutational analyses allow for predicting patient prognosis and treatment response.Clinical presentations can vary from no symptoms,typical in the case of small incidentally found tumors,to GI bleeding,abdominal discomfort,and ulcer-related symptoms when the tumor is enlarged.Imaging plays a critical role in the diagnosis and management of these tumors with multiphasic computed tomography serving as the imaging modality of choice.Magnetic resonance imaging and positron emission tomography-computed tomography can serve as imaging adjuncts in lesion characterization,especially with liver metastases,and subsequent staging and assessment for treatment response or recurrence.Surgical resection is the preferred management for small GISTs,while tyrosine kinase inhibitors−imatinib mesylate and sunitinib malate−serve as crucial molecular-targeted therapies for locally advanced and metastatic GISTs.This review article highlights the clinical presentation,pathology and molecular cytogenetics,imaging features,and current management of GISTs.

Comparison of Mitoxantrone in Combination with Intermediate-dose Cytarabine versus High-dose Cytarabine as Consolidation Therapies for Young Non-APL Acute Myeloid Leukemia Patients with Favorable and Intermediate Cytogenetics

In this study,we compared the efficacy of mitoxantrone in combination with intermediate-dose cytarabine（HAM） with that of high-dose cytarabine alone（Hi DAC） as consolidation regimens in non-acute promyelocytic leukemia（APL） acute myeloid leukemia patients with favorable and intermediate cytogenetics.A total of 62 patients from Shenzhen People＇s Hospital were enrolled in this study.All patients enrolled received standard induction chemotherapy and achieved the first complete remission（CR1）.In these patients,24 received Hi DAC and 38 received HAM as consolidation.The median relapse free survival（RFS） and overall survival（OS） were similar between these two consolidation regimens.Even in subgroup analysis according to risk stratification,the combination regimen conferred no benefit in longterm outcome in patients with favorable or intermediate cytogenetics.However,in patients receiving HAM regimen,the lowest neutrophil count was lower,neutropenic period longer,neutropenic fever rate higher,and more platelet transfusion support was required.HAM group also tended to have higher rate of sepsis than Hi DAC group.According to our results,we suggest that combination treatment with mitoxantrone and intermediate-dose cytarabine has limited value as compared to Hi DAC,even in young non-APL AML patients with favorable and intermediate cytogenetics.

Cytogenetics and germplasm enrichment in Brassica allopolyploids in China

This paper reviews research advances in cytogenetics and germplasm innovation in Brassica allopolyploids, particularly oilseed rape（Brassica napus）, in China. Three naturally evolved Brassica allotetraploid species are cytologically stable but tend to preferentially lose several chromosomes from one subgenome when induced by alien chromosome elimination. A-subgenome is extracted from B. napus, and the ancestral Brassica rapa was restituted after the total loss of C-subgenome chromosomes. Genome-wide genetic and epigenetic alterations were observed in both natural and synthetic Brassica allotetraploids. B. napus was subjected to extensive interspecific hybridization with landraces of B. rapa and Brassica juncea, which exhibit abundant phenotype variations, to widen the genetic diversity in breeding and select numerous elite germplasm resources and cultivars; these cultivars include the representative Zhongyou 821, which also parented numerous other varieties. Novel B. napus genotypes were obtained using Brassica trigenomic hybrids and allohexaploids（2 n=54, AABBCC） by combining subgenomes from extant allotetraploids and diploids as bridge. Alien additions, substitutions, and translocations of the B. napus genome were developed by intergeneric/intertribal sexual and somatic hybridizations with several crucifers. Furthermore, mitochondrial DNA recombination promoted the production of novel cytoplasmic male sterile lines.

Clinical cytogenetics and molecular cytogenetics

The short report will be focused on helping our students to understand commonly used conventional and cutting edge cytogenetic techniques and their clinical applications, the advances and drawbacks of each technique, and how to pick the right test(s) for a specific patient in order to achieve a proper diagnosis efficiently and economically.

CLASSIFICATION OF NINETY-EIGHT ADULT CASES OF ACUTE LEUKEMIAS ACCORDING TO MORPHOLOGY,IMMUNOLOGY AND CYTOGENETICS

In the present study, 98 cases of acute leukemias (AL) were diagnosed and classified based on morphologic, immunologic and cytogenetic (MIC) features to assess their diagnostic value in AL. The results showed that: the conformity rate of cytomorphologic/cytochemical classification with MIC classification was 90.8%. For ALL, the conformity rate of immunologic classification with MIC classification was 95.6% while it was only 70.8% for AML. Of the 48 AML, 10 expressed lymphoid-lineage-associated antigens and 8 of 43 ALL expressed myeloid-lineage-associated antigens. Seven cases were diagnosed as hybrid acute leukemia according to Catovsky's scoring criterion. The clonal chromosomal aberrations were found in 70 cases, of them 46 cases showed characteristic changes including t(9; 22), t(4; 11), t(11; 14), t(8; 12), t(8; 14), 6q-, 9p- and t(15; 17), t(8; 21), inv(16), etc. These data suggested that MIC classification of acute leukemias could provide more diagnostic and biologic information than traditional FAB classification.

The Biodiversity of Shrimp Genus Artemia from Russian Lakes:Morphometric,Cytogenetics and DNA-analysis

Shrimps of genus Artemia are the inhabitants of continental and marine waters with salinity of 70 to 350 g/l and above.Artemia is able to survive in the conditions in which other animals cannot exist.This is due to adaptations:effective osmoregulation system,the ability to synthesize of respiratory pigment(hemoglobin)and diapauses cysts(Litvinenko at.al.,2009).Cysts of this

Prognostic power of abnormal cytogenetics for multiple myeloma： a multicenter study in China

Background Chromosomal abnormalities have been shown to play an important prognostic role in multiple myeloma （MM）. Interphase fluorescence in situ hybridization （i-FISH） has been much more effective to identify cytogenetic aberrations in MM than conventional cytogenetic technique （CC）. To clearly determine the cytogenetic features of Chinese MM patients and identify their prognostic implications, we designed a multicenter study based on i-FISH including 672 patients from 52 hospitals in China. Methods All 672 patients were systematically screened for the following genomic aberrations： del（13q）, IgH rearrangement, del（p53） and lq21 amplifications. Results The analysis showed that the chromosomal changes were detected in 22.1% patients by CC and in 82.3% patients by i-FISH. The most common abnormalities by CC were chromosome 1 aberrations （48.4%）, -13/13q- （37.6%）, hyperdiploidy （36.6%）, hypodiploidy （30.1%） and IgH rearrangements （23.7%）. The most frequent abnormalities by FISH was del（13q）, which was found in 60.4% patients, whereas IgH rearrangement, lq21 amplification and p53 deletions were detected in 57.6%, 49.0% and 34.7% cases, respectively. By statistical analysis, -13/13q- by CC was associated with low level of platelet （P=0.015）, hyperdiploidy was associated with low level of serum albumin （P=0.028）, and IgH rearrangement by FISH was associated with high level of 132 microglobulin （P=0.019）. Moreover, lq21 amplification and del（p53） by FISH conferred a high incidence of progressive disease （PD） after initial therapy. Metaphase detection of IgH rearrangements and chromosome 1 aberrations concurrently was associated with a short progression free survival （PFS） （P=-0.036）. No significant prognostic implications of other cytogenetic abnormalities were found associated with overall survival and PFS. Conclusions Chinese MM patients had similar cytogenetic abnormalities compared with the previous reported studies. However, the prognostic significance of FISH aberrations were not clearly determined and further study is required.

FLT3 and NPM1 mutations in Chinese patients with acute myeloid leukemia and normal cytogenetics

Mutations of fins-like tyrosine kinase 3 （FLT3） and nucleophosmin （NPM1） exon 12 genes are the most common abnormalities in adult acute myeloid leukemia （AML） with normal cytogenetics. To assess the prognostic impact of the two gene mutations in Chinese AML patients, we used multiplex polymerase chain reaction （PCR） and capillary electrophoresis to screen 76 AML patients with normal cytogenetics for mutations in FLT3 internal tandem duplication （FLT3/ITD） and exon 12 of the NPM1 gene. FLT3/ITD mutation was detected in 15 （19.7%） of 76 subjects, and NPM1 mutation in 20 （26.3%） subjects. Seven （9.2%） cases were positive for both FLT3/ITD and NPM1 mutations Significantly more FLT3/ITD aberration was detected in subjects with French-American-British （FAB） M1 （42.8%）. NPM1 mutation was frequently detected in subjects with M5 （47.1%） and infrequently in subjects with M2 （11.1%）. FLT3 and NPM1 mutations were significantly associated with a higher white blood cell count in peripheral blood and a lower CD34 antigen expression, but not age, sex, or platelet count. Statistical analysis revealed that the FLT3/ITD- positive group had a lower complete remission （CR） rate （53.3% vs. 83.6%）. Survival analysis showed that the FLT3/ITD-positive/NPM1 mutation-negative group had worse overall survival （OS） and relapse-free survival （RFS）. The FLT3/ITD-positive/NPM1 mutation-positive group showed a trend towards favorable survival compared with the FLT3/ITD-positive/NPM1 mutation-negative group （P=0.069）. Our results indicate that the FLT3/ITD mutation might be a prognostic factor for an unfavorable outcome in Chinese AML subjects with normal cytogenetics, while NPM1 mutation may be a favorable prognostic factor for OS and RFS in the presence of FLT3/ITD.

Laboratory Diagnosis of Acute Leukemia in Kenya: The Gaps and Opportunities

Acute leukemia (AL) is a malignant disease of the bone marrow in which hematopoietic precursors are arrested in an early stage of development. The diagnosis of leukemia and lymphomas, beyond morphology, is limited in low-resource countries including Kenya. Morphological diagnosis includes Cytological and Histological assessment of blood, bone marrow aspirates and tissues on suspected Acute leukemia patients. The World Health Organization (WHO, 2016) international guidelines on Acute leukemia diagnosis recommend that cytogenetic analysis, appropriate molecular genetics, Fluorescent in situ Hybridization (FISH) testing, and flow cytometric immuno-phenotyping should be done in addition to a morphologic assessment of Acute Leukemia. In facilities where resources are relatively available, immunophenotypic and genetic features have resulted not only in providing a more accurate leukemia diagnosis but also in identifying antigens or genes that can then be targeted for therapy. This article will look at the gaps in the diagnosis of Acute leukemia in low-resource settings like Kenya and opportunities available to improve diagnosis.

Phenotypic and cytogenetic features of an Iranian child with tetrasomy 18p syndrome:A case report

BACKGROUND Tetrasomy 18p is a rare chromosome abnormality disorder known to have consid-erable variability in clinical features and gathering data from different cases will help clinicians and researchers learn about its genotype-phenotype relationship and diagnosis.CASE SUMMARY Herein,we have reviewed the literature on phenotypic features of this disorder and described the phenotypic and cytogenetic features of a girl of early childhood with tetrasomy 18p for the first time from Iran.This patient showed a strong sense of smell(a unique feature not reported previously for this syndrome),had clenched hand,pes planus,forward head posture in walking and hirsutism(dysmorphic features less reported),and showed 10 clinical features that are generally observed in previously reported cases,including developmental delay/intellectual disability,triangular face,smooth philtrum,feeding difficulties,hypotonia,epicanthus,strabismus,history of constipation,growth retardation and foot anomalies.G-banding chromosome analysis from peripheral blood revealed an abnormal female karyotype with a small marker chromosome(47,XX,+mar),and oligo-array comparative genomic hybridization displayed a gain of 14Mb of the 18p arm containing 56 Online Mendelian Inheritance in Man(OMIM)genes in this patient.Overall,this patient seems to have mild phenotypes.CONCLUSION This Iranian tetrasomy 18p child displays a uniquely strong sense of smell,some less reported dysmorphic features and ten features generally reported.

Morphological, cytological and molecular analyses of a synthetic hexaploid derived from an interspecific hybrid between Gossypium hirsutum and Gossypium anomalum

Gossypium anomalum represents an inestimable source of genes that could potentially be transferred into the gene pool of cultivated cotton. To resolve interspecific hybrid sterility problems, we previously treated triploid hybrids derived from a cross between Gossypium hirsutum and G. anomalum with 0.15% colchicine and obtained a putative fertile hexaploid. In this study, we performed morphological, molecular and cytological analyses to assess the hybridity and doubled status of putative interspecific hybrid plants. Most of the morphological characteristics of the putative hexaploid plants were intermediate between G. hirsutum and G.anomalum. Analysis of mitotic metaphase plates revealed 78 chromosomes, confirming the doubled hybrid status of the hexaploid. Genome-wide molecular analysis with different genome-derived SSR markers revealed a high level of polymorphism(96.6%) between G. hirsutum and G. anomalum. The marker transferability rate from other species to G. anomalum was as high as 98.0%. The high percentage of polymorphic markers with additive banding profiles in the hexaploid indicates the hybridity of the hexaploid on a genome-wide level. A-genome-derived markers were more powerful for distinguishing the genomic differences between G. hirsutum and G. anomalum than D-genome-derived markers. This study demonstrates the hybridity and chromosomally doubled status of the(G. anomalum × G. hirsutum)2hexaploid using morphological, cytological and molecular marker methods. The informative SSR markers screened in the study will be useful marker resources for tracking the flow of G. anomalum genetic material among progenies that may be produced by future backcrosses to G. hirsutum.

Inv(13)(p12 q14)一家系报道

先证者女汉族24岁,身高1.61米.体重60.1公斤。因连续生两胎畸形儿夭折就诊。第一胎为足月顺产,唇裂、腭裂.双脚各为6趾,50天时因呼吸道感染而死亡。第二胎.足月顺产,体征似第一胎,生下两天死亡。外周血染色体检查,分别计数50个细胞,G 显带分析20个核型均为46,xx.Inv(13)(p12 q14)臂间倒位.患者父亲及其兄长核型与患者相同。其丈夫体征与核型均正常。其姐、妹及母亲因居住内地未查,患者哥及姐所生子女表形均无异常。

超雄综合症一例报告(摘要)

病例报告患者男 7岁,因智力发育差就诊。身高1.35米,体重30公斤,生长发育正常.头颅、五管无异常,心、肺检查正常.智力欠佳,小阴茎.隐睾,细胞遗传学检查:常规外周血培养 G显带核型分析:计数细胞分裂相50个,G 带分析15个核型均为47,XYY。患者父亲核型46,XY.。讨论根据以上检查结果,该患者超雄综合症的发病机理,可能是源自新发生的突变.此类患者到成年后性格有不同程度的攻击倾向,如能早期发现、引导,可避免异常性格的形成,如果要求生育者必须作产前诊断,以防止有2/1发病风险的子代出生。

Neoplastic-Like CELL Changes of Normal Fibroblast Cells Associated with Evolutionary Conserved Maternal and Paternal Genomic Autonomous Behavior (Gonomery)

The present comparative review discusses conservation of early evolutionary, relic genetics in the genome of man, which determine two different mechanistic reductive division systems expressed by normal, human diploid cells. The divisions were orderly and segregated genomes reductively to near-diploid daughter cells, which showed gain of a proliferative advantage (GPA) over cells of origin. This fact of GPA expression is a fundamental requirement for initiation of tumorigenesis. The division systems were responses to a carcinogen-free induction system, consisting of short (1 - 3 days) exposures of young cells to nutritional deprivation of amino acid glutamine (AAD). In recovery growth (2 - 4 days) endo-tetra/ochtoploid cells and normal diploid metaphase cells demonstrated chromosomal reductive divisions to respectively heterozygous and homozygous altered daughter cells. Both division systems showed co-segregating whole complements, which for reduction of the diploid metaphases could only arise from gonomeric-based autonomous behavior of maternal and paternal (mat/pat) genomes. The timely associated appearance with these latter divisions was fast growing small-cells (1/2 volume-size reduced from normal diploidy), which became homozygous from haploid, genomic doubling. Both reductive divisions thus produced genome altered progeny cells with GPA, which was associated with pre-cancer-like cell-phenotypic changes. Since both “undesirable” reductive divisions expressed orderly division sequences, their genetic controls were assumed to be “old genetics”, evolutionarily conserved in the genome of man. Support for this idea was a search for evidential material in the evolutionary record from primeval time, when haploid organisms were established. The theory was that endopolyploid and gonomery-based reductive divisions relieved the early eukaryotic organisms from accidental, non-proliferative diploidy and polyploidy, bringing the organism back to vegetative haploid proliferation. Asexual cycles were common for maintenance of propagating haploid and diploid early unicellular eukaryotes. Reduction of accidental diploidy was referred to as “one-step meiosis” which meant gonomeric-based maternal and paternal genomic independent segregations. This interpretation was supported by exceptional chromosomal behaviors. However, multiple divisions expressing non-disjunction was the choice-explanation from evolutionists, which today is also suggested for the rarer LL-1 near haploid leukemia. These preserved non-mitotic mechanistic divisions systems are today witnessed in apomixes and parthenogenesis in many animal phyla. Thus, the indications are the modern genome of man harbors, relic-genetics from past “good” evolvements assuring “stable” proliferation of ancient, primitive eukaryotes, but with cancer-like effects for normal human cells.

Status of genetic studies and breeding of Saccharina japonica in China

Saccharina japonica is one of the most important economic brown seaweeds.It is intensively cultivated on large scales in a number of Asian countries.The current annual,global production is about 8 million tons valued as about 4 million US dollars.Considerable efforts have been made to S.japonica in China since the 1950s on its cultivation.To further advance the cultivation of this species,detailed research of genetics and breeding studies are required.Recently,with the advancement of sequencing techniques,the genomics and comparative transcriptomics data were yielded,and quantitative trait locus(QTL)mapping has been conducted,along with genetic linkage maps constructed to this species.New strains have been bred and selected,with better characteristics,e.g.higher seawater temperature resistances and higher yields.In this review,we present the current status of genetic and breeding studies that have been performed to S.japonica in China,and provide guidelines for future developments in the areas of genetic selection and breeding for this species.

Mosaic Trisomy 21 and Trisomy 14 as Acquired Cytogenetic Abnormalities without GATA1 Mutation in A Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia

One case of acute megakaryoblastic leukemia （AMKL） with trisomy 21,trisomy 14 and unmutated GATA1 gene in a phenotypically normal girl was reported.The patient experienced transient myelodysplasia before the onset of AMKL.The bone marrow blasts manifested typical morphology of megakaryoblast both by the May-Giemsa staining and under the electronic microscopy.Leukemic cells were positive for CD13,CD33,CD117,CD56,CD38,CD41 and CD61 in flow cytometry analysis.Cytogenetic study showed karyotype of 48,XX,＋14,＋21 in 40% metaphases.Known mutations of GATA1 gene in Down syndrome or acquired trisomy 21 were not detected in this case.

Desmoplastic small round cell tumor with atypical immunohistochemical profile and rhabdoid-like differentiation

Desmoplastic small round cell tumor(DSRCT) is a rare,aggressive malignant neoplasm of unknown origin, and is comprised of small round cells with a characteristic desmoplastic stroma. DSRCT typically expresses epithelial, mesenchymal and neural markers simultaneously. We describe a case of DSRCT with an atypical immunohistochemical profile and rhabdoid-like tumor cells on electron microscopy. In the present case, the neoplastic cells were positive only for vimentin, desmin(cytoplasmic membranous pattern) and CD56,and negative for smooth muscle actin, synaptophysin,CD117, CD45, myogenin, CAM5.2, pancytokeratin,WT1, EMA, CD99, neurofilament, CD34 and p53. Ki67 showed a low proliferative activity. Electron microscopy showed focal rhabdoid differentiation. However, INI-1(SNF-5/BAF47) demonstrated preservation of nuclear positivity in the neoplastic cells. Cytogenetic studies showed translocation t(11;22)(p13;q12) confirming an EWSR1-WT1 translocation characteristic for DSRCT, and t(1;15)(q11;p11.2) of unknown significance. This case is a diagnostic challenge because of atypical immunohistochemical profile and cytogenetic study is crucial in rendering the correct diagnosis.