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ИННОВАЦИОННЫЕ ТЕХНОЛОГИИ В ПЕДИАТРИИ И ДЕТСКОЙ ХИРУРГИИ
ity. Additionally, constitutional chromothripsis is shown to affect the brain in a non-malignant disease. Thus, constitutional chromosome instability in the brain is likely to be a mechanism for neuropathology in this devastating neuropsychiatry disease. Supported by the Russian Science Foundation (Grant #14-35-00060).
CYTOGENETICALLY VISIBLE COPY NUMBER VARIATIONS (CG-CNVS) IN BANDING AND MOLECULAR CYTOGENETICS OF HUMAN; ABOUT HETEROMORPHISMS AND EUCHROMATIC VARIANTS Liehr T.
Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany
Copy number variations (CNVs) having no (obvious) clinical effects were rediscovered as major part of human genome in 2004. However, for every cytogeneticist microscopically visible harmless CNVs (CG-CNVs) are well known since decades. Harmless CG-CNVs can be present as heterochromatic or even as euchromatic variants in clinically healthy persons. Here I provide a review on what is known today on the still too little studied harmless human CG-CNVs, point out which can be mixed up with clinically relevant pathological CG-CNVs and shortly discuss that the artificial separation of euchromatic submicroscopic CNVs (MG-CNVs) and euchromatic CG-CNVs is no longer timely. Overall, neither so-called harmless heterochromatic nor so-called harmless euchro-matic CG-CNVs are considered enough in evaluation of routine cytogenetic analysis and reporting. This holds especially true when bearing in mind the so-called two-hit model suggesting that combination of per se harmless CNVs may lead to clinical aberrations if they are present together in one patient.
MYELODYSPLASTIC SYNDROME WITHOUT RING SIDEROBLASTS AND WITH JANUS KINASE 2 GENE MUTATION: AN UNUSUAL CASE REPORT
Ornellas M.H.12, de Franga Silva M.1, Solza C.3, de Lucena Gongalves S.B.S.3, de Almeida L.S.1,2, de Paula Ayres Silva J.4, Seixas T.L.5, Bastos E.F.5,6, Liehr T.7, Alves G.1,2,8 'Department of Pathology, Laboratory of Circulating Markers, Faculty of Medica Sciences (FCM), Rio de Janeiro, Brazil;
2Graduation Course in Medical Sciences, Faculty of Medica Sciences (FCM), Rio de Janeiro, Brazil; 3Department of Haematology, Pedro Ernesto University Hospital (HUPE), Rio de Janeiro State University (UERJ), Rio de Janeiro, Brazil;
"Department of Pathology, Oswaldo Cruz Institute (IOC), Ministry of Health, Rio de Janeiro, Brazil; 'Cytogenetics Laboratory, Faculty of Medical Sciences, Rio de Janeiro State University (UERJ), Rio de Janeiro, Brazil;
•Department of Medical Genetic, Fernandes Figueira
Institute, Oswaldo Cruz Foundation (FIOCRUZ), Rio de Janeiro, Brazil;
'University Clinic Jena, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany; 8Research Coordination, National Cancer Institute (INCA), Ministry of Health, Rio de Janeiro, Brazil
Myelodysplastic syndrome (MDS) cases comprise a heterogeneous group of hematological disorders that are characterized by impaired hematopoiesis, with cytopenias of different grades and risk of developing acute myeloid leukemia. MDS may rarely be associated with thrombocy-tosis. In such cases, myelodysplasia and myeloproliferative disorders may overlap, making correct diagnosis difficult. We herein describe a case of MDS with thrombocytosis, Janus kinase 2 gene mutation positive and Perls' staining negative, which was initially classified as essential throm-bocythemia (ET). This case highlights that MDS may be misdiagnosed as ET and inappropriate treatment may be initiated. Therefore, it is crucial to carefully combine all available data on morphology and immunophenotyp-ing, and to perform the necessary molecular, cytogenetic and molecular cytogenetic analyses, in order to correctly diagnose this disease.
A NEW COMPLEX KARYOTYPE IN A UNIQUE DE NOVO MYELODYSPLASTIC SYNDROME CASE INVOLVING TEN CHROMOSOMES AND MONOAL-LELIC LOSS OF TP53
Wafa A.1, As'sad M.1, Liehr T.2, Aljapawe A.3, Al Achkar W.1
'Molecular Biology and Biotechnology Department, Human Genetics Div., Chromosomes lab., Atomic Energy Commission of Syria, Damascus, Syria; Jena University Hospital, Institute of Human Genetics, Jena, Germany;
3Molecular Biology and Biotechnology Department, Mammalians Biology Div., Flow-cytometry Lab., Atomic Energy Commission of Syria, Damascus, Syria
Myelodysplastic syndrome (MDS) is a group of clonal stem cell disorders characterized by cytopenia, dyspla-sia in one or more cell lineages, and ineffective hemato-poiesis. MDS is associated with high risk of progression to acute myeloid leukemia. At initial diagnosis, clonal cytogenetic aberrations are present in 40—70% of patients with de novo (primary) MDS and in 65—95% of patients with therapyassociated ones (t-MDS). Most commonly observed abnormalities present in MDS are monosomy 5 and 7, trisomy 8, deletions of long arm of chromosome 20 as well as complex karyotypes. Loss or gain of chromosomal material is known to be related to disease development and progression. In a de novo adult MDS case banding cytogenetics, refined by array-proven multicolor banding (aMCB) revealed a unique complex karyotype involving ten chromosomes that include del(5q), del(7q), deletions in parts of both chromosomes 10, and a dic(7;17). Interestingly, the dic(7;17) leads to monosomy of the tu-
РОССИЙСКИЙ ВЕСТНИК ПЕРИНАТОЛОГИИ И ПЕДИАТРИИ, 4, 2016 ROSSIYSKIY VESTNIK PERINATOLOGY IPEDIATRII, 4, 2016
