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Article ; Online: Hereditary Conditions Associated with Elevated Cancer Risk in Childhood.

Suspitsin, Evgeny N / Imyanitov, Evgeny N

2023 Volume 88, Issue 7, Page(s) 880–891

Abstract: Received January, 31, 2023 Revised March, 16, 2023 Accepted March, 18, 2023 Widespread use of the next-generation sequencing (NGS) technologies revealed that a significant percentage of tumors in children develop as a part of monogenic hereditary ... ...

Abstract	Received January, 31, 2023 Revised March, 16, 2023 Accepted March, 18, 2023 Widespread use of the next-generation sequencing (NGS) technologies revealed that a significant percentage of tumors in children develop as a part of monogenic hereditary diseases. Predisposition to the development of pediatric neoplasms is characteristic of a wide range of conditions including hereditary tumor syndromes, primary immunodeficiencies, RASopathies, and phakomatoses. The mechanisms of tumor molecular pathogenesis are diverse and include disturbances in signaling cascades, defects in DNA repair, chromatin remodeling, and microRNA processing. Timely diagnosis of tumor-associated syndromes is important for the proper choice of cancer treatment, genetic counseling of families, and development of the surveillance programs. The review describes the spectrum of neoplasms characteristic of the most common syndromes and molecular pathogenesis of these diseases.
Language	English
Publishing date	2023-09-26
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	1109-5
ISSN	1608-3040 ; 0006-2979 ; 0320-9717
ISSN (online)	1608-3040
ISSN	0006-2979 ; 0320-9717
DOI	10.1134/S0006297923070039
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Article: Hereditary cancer syndromes.

Imyanitov, Evgeny N / Kuligina, Ekaterina S / Sokolenko, Anna P / Suspitsin, Evgeny N / Yanus, Grigoriy A / Iyevleva, Aglaya G / Ivantsov, Alexandr O / Aleksakhina, Svetlana N

World journal of clinical oncology

2023 Volume 14, Issue 2, Page(s) 40–68

Abstract: Hereditary cancer syndromes (HCSs) are arguably the most frequent category of Mendelian genetic diseases, as at least 2% of presumably healthy subjects carry highly-penetrant tumor-predisposing pathogenic variants (PVs). Hereditary breast-ovarian cancer ... ...

Abstract	Hereditary cancer syndromes (HCSs) are arguably the most frequent category of Mendelian genetic diseases, as at least 2% of presumably healthy subjects carry highly-penetrant tumor-predisposing pathogenic variants (PVs). Hereditary breast-ovarian cancer and Lynch syndrome make the highest contribution to cancer morbidity; in addition, there are several dozen less frequent types of familial tumors. The development of the majority albeit not all hereditary malignancies involves two-hit mechanism,
Language	English
Publishing date	2023-03-09
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2587357-X
ISSN	2218-4333
ISSN	2218-4333
DOI	10.5306/wjco.v14.i2.40
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Article: Simultaneous Onset of Pediatric Systemic Lupus Erythematosus in Twin Brothers: Case Report.

Raupov, Rinat K / Suspitsin, Evgeny N / Imelbaev, Artur I / Kostik, Mikhail M

Frontiers in pediatrics

2022 Volume 10, Page(s) 929358

Abstract: There are hundreds of twin adult patients with systemic lupus erythematosus (SLE), but male children with SLE are rarely affected. Two monozygotic twin brothers developed SLE at the age of 11 years during 1 month. The index brother manifested with Henoch- ...

Abstract	There are hundreds of twin adult patients with systemic lupus erythematosus (SLE), but male children with SLE are rarely affected. Two monozygotic twin brothers developed SLE at the age of 11 years during 1 month. The index brother manifested with Henoch-Shonlein purpura, accompanied by ANA positivity, and later developed critical left femoral arterial stenosis with high levels of anti-dsDNA, antiphospholipid antibodies, hypocomplementemia, and Coombs-positive hemolytic anemia. At that time his twin brother had only identical autoimmune findings and developed clinical manifestation (myositis and fasciitis) a month later. Both twins had increased IFN-score and shared a heterozygous variant in the RNASEL gene. Index patients developed scalp rash and nephritis 6 months after their parents refused the treatment which has been lasted for 1 year after disease diagnostics. Conclusion: The simultaneous onset of the pediatric SLE in the male twin is a very rare situation suspected monogenic origin of the disease. Further functional studies are required to confirm the causative role of the mutation.
Language	English
Publishing date	2022-06-16
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2022.929358
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Article: Bardet-Biedl Syndrome.

Suspitsin, Evgeny N / Imyanitov, Evgeny N

Molecular syndromology

2016 Volume 7, Issue 2, Page(s) 62–71

Abstract: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal ... ...

Abstract	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life. At least 20 BBS genes have already been identified, and all of them are involved in primary cilia functioning. Genetic diagnosis of BBS is complicated due to lack of gene-specific disease symptoms; however, it is gradually becoming more accessible with the invention of multigene sequencing technologies. Clinical management of BBS is largely limited to a symptomatic treatment. Mouse experiments demonstrate that the most debilitating complication of BBS, blindness, can be rescued by topical gene therapy. There is a published case report describing the delay of BBS symptoms by nutritional compensation of the disease-related biochemical deficiencies. Progress in DNA testing technologies is likely to rapidly resolve all limitations in BBS diagnosis; however, much slower improvement is expected with regard to BBS treatment.
Language	English
Publishing date	2016-04-15
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2546218-0
ISSN	1661-8777 ; 1661-8769
ISSN (online)	1661-8777
ISSN	1661-8769
DOI	10.1159/000445491
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Article: First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a

Suspitsin, Evgeny N / Sibgatullina, Farida I / Lyazina, Lydia V / Imyanitov, Evgeny N

Molecular syndromology

2017 Volume 8, Issue 2, Page(s) 103–106

Abstract: Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early- ... ...

Abstract	Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent
Language	English
Publishing date	2017-01-17
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2546218-0
ISSN	1661-8777 ; 1661-8769
ISSN (online)	1661-8777
ISSN	1661-8769
DOI	10.1159/000454820
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Article ; Online: Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.

Orlov, Igor E / Laidus, Tatiana A / Tumakova, Anastasia V / Yanus, Grigoriy A / Iyevleva, Aglaya G / Sokolenko, Anna P / Bizin, Ilya V / Imyanitov, Evgeny N / Suspitsin, Evgeny N

European journal of medical genetics

2022 Volume 65, Issue 2, Page(s) 104426

Abstract: Whole exome sequencing (WES) is a powerful tool for the cataloguing of population-specific genetic diseases. Within this proof-of-concept study we evaluated whether analysis of a small number of individual exomes is capable of identifying recurrent ... ...

Abstract	Whole exome sequencing (WES) is a powerful tool for the cataloguing of population-specific genetic diseases. Within this proof-of-concept study we evaluated whether analysis of a small number of individual exomes is capable of identifying recurrent pathogenic alleles. We considered 106 exomes of subjects of Russian origin and revealed 13 genetic variants, which occurred more than twice and fulfilled the criteria for pathogenicity. All these alleles turned out to be indeed recurrent, as revealed by the analysis of 1045 healthy Russian donors. Eight of these variants (NAGA c.973G>A, ACADM c.985A>C, MPO c.2031-2A>C, SLC3A1 c.1400T>C, LRP2 c.6160G>A, BCHE c.293A>G, MPO c.752T>C, FCN3 c.349delC) are non-Russian-specific, as their high prevalence was previously demonstrated in other European populations. The remaining five disease-associated alleles appear to be characteristic for subjects of Russian origin and include CLCN1 c.2680C>T (myotonia congenita), DHCR7 c.453G>A (Smith-Lemli-Opitz syndrome), NUP93 c.1162C>T (steroid-resistant nephrotic syndrome, type 12), SLC26A2 c.1957T>A (multiple epiphyseal dysplasia) and EIF3F c.694T>G (mental retardation). These recessive disease conditions may be of particular relevance for the Russian Federation and other countries with a significant Slavic population.
MeSH term(s)	Adult ; Amino Acid Transport Systems, Basic/genetics ; Amino Acid Transport Systems, Neutral/genetics ; Butyrylcholinesterase/genetics ; Female ; Gene Frequency ; Genetic Diseases, Inborn/genetics ; Humans ; Lectins/genetics ; Low Density Lipoprotein Receptor-Related Protein-2/genetics ; Male ; Peroxidase/genetics ; Population/genetics ; Russia ; Whole Exome Sequencing/statistics & numerical data ; alpha-N-Acetylgalactosaminidase/genetics
Chemical Substances	Amino Acid Transport Systems, Basic ; Amino Acid Transport Systems, Neutral ; FCN3 protein, human ; LRP2 protein, human ; Lectins ; Low Density Lipoprotein Receptor-Related Protein-2 ; SLC3A1 protein, human ; MPO protein, human (EC 1.11.1.7) ; Peroxidase (EC 1.11.1.7) ; BCHE protein, human (EC 3.1.1.8) ; Butyrylcholinesterase (EC 3.1.1.8) ; NAGA protein, human (EC 3.2.1.49) ; alpha-N-Acetylgalactosaminidase (EC 3.2.1.49)
Language	English
Publishing date	2022-01-11
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2184135-4
ISSN	1878-0849 ; 1769-7212
ISSN (online)	1878-0849
ISSN	1769-7212
DOI	10.1016/j.ejmg.2022.104426
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Article: Bardet-Biedl Syndrome

Suspitsin, Evgeny N. / Imyanitov, Evgeny N.

Molecular Syndromology

2016 Volume 7, Issue 2, Page(s) 62–71

Institution	N.N. Petrov Institute of Oncology St. Petersburg Pediatric Medical University I.I. Mechnikov North-Western Medical University, and St. Petersburg State University, St. Petersburg, Russia
Abstract	Bardet-Biedl syndrome (BBS) is a rare autosomal recessive genetic disorder. It is characterized by heterogeneous clinical manifestations including primary features of the disease (rod-cone dystrophy, polydactyly, obesity, genital abnormalities, renal defects, and learning difficulties) and secondary BBS characteristics (developmental delay, speech deficit, brachydactyly or syndactyly, dental defects, ataxia or poor coordination, olfactory deficit, diabetes mellitus, congenital heart disease, etc.); most of these symptoms may not be present at birth but appear and progressively worsen during the first and second decades of life. At least 20 BBS genes have already been identified, and all of them are involved in primary cilia functioning. Genetic diagnosis of BBS is complicated due to lack of gene-specific disease symptoms; however, it is gradually becoming more accessible with the invention of multigene sequencing technologies. Clinical management of BBS is largely limited to a symptomatic treatment. Mouse experiments demonstrate that the most debilitating complication of BBS, blindness, can be rescued by topical gene therapy. There is a published case report describing the delay of BBS symptoms by nutritional compensation of the disease-related biochemical deficiencies. Progress in DNA testing technologies is likely to rapidly resolve all limitations in BBS diagnosis; however, much slower improvement is expected with regard to BBS treatment.
Keywords	Bardet-Biedl syndrome ; Ciliopathy ; Ethnic variations ; Recurrent mutations ; Review ; Treatment
Language	English
Publishing date	2016-04-15
Publisher	S. Karger AG
Publishing place	Basel, Switzerland
Document type	Article
Note	Review Article
ZDB-ID	2546218-0
ISSN	1661-8777 ; 1661-8769
ISSN (online)	1661-8777
ISSN	1661-8769
DOI	10.1159/000445491
Database	Karger publisher's database

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Article: Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine.

Sokolova, Tatiana N / Breder, Valeriy V / Shumskaya, Irina S / Suspitsin, Evgeny N / Aleksakhina, Svetlana N / Yanus, Grigoriy A / Tiurin, Vladislav I / Ivantsov, Alexandr O / Vona, Barbara / Raskin, Grigoriy A / Gamajunov, Sergey V / Imyanitov, Evgeny N

Hereditary cancer in clinical practice

2021 Volume 19, Issue 1, Page(s) 2

Abstract: Background: Many cancer patients undergo sophisticated laboratory testing, which requires proper interpretation and interaction between different specialists.: Case presentation: We describe a patient with an extensive family history of cancer, who ... ...

Abstract	Background: Many cancer patients undergo sophisticated laboratory testing, which requires proper interpretation and interaction between different specialists. Case presentation: We describe a patient with an extensive family history of cancer, who was diagnosed with bilateral breast cancer and two lung cancer lumps by the age of 40 years. She submitted a lung cancer specimen to a genetic profiling service, which reported the presence of the EGFR mutation (a combination of G719S and L833V substitutions) and the TP53 с.322_327del (p.G108_F109del) mutation in the tumor tissue. Possible therapeutic options were discussed at a medical conference, where one of the discussants raised a concern that the identified TP53 mutation may not necessarily be somatic, but reflect the germ-line status of the gene. Review of clinical records and follow-up dialog with the patient revealed, that she previously provided her blood for DNA analysis in two laboratories. The first laboratory utilized a custom NGS assay and did not detect the TP53 mutation, instead pointed to a potential pathogenic significance of the MSH6 c.2633 T > C (p.V878A) allele. The second laboratory revealed the TP53 с.322_327del (p.G108_F109del) allele but stated in the written report that it has an unknown pathogenic significance. To resolve the possible uncertainty regarding the role of the TP53 с.322_327del (p.G108_F109del) variant, we suggested that the patient invite her second cousin for genetic testing, as she was affected by neuroblastoma at the age of 3 years. This analysis revealed the presence of the same TP53 variant. Conclusion: We provide point-by-point discussion, reviewing multiple laboratory mistakes and clinical misinterpretations occurred with this patient. This case report exemplifies the need to involve rigorous clinical expertise in the daily practice of medical laboratory facilities.
Language	English
Publishing date	2021-01-06
Publishing country	Poland
Document type	Journal Article
ZDB-ID	2252512-9
ISSN	1897-4287 ; 1731-2302
ISSN (online)	1897-4287
ISSN	1731-2302
DOI	10.1186/s13053-020-00157-8
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Zs.A 6407: Show issues

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Article: Standard and increased canakinumab dosing to quiet macrophage activation syndrome in children with systemic juvenile idiopathic arthritis.

Kostik, Mikhail M / Isupova, Eugenia A / Belozerov, Konstantin / Likhacheva, Tatyana S / Suspitsin, Evgeny N / Raupov, Rinat / Masalova, Vera V / Chikova, Irina A / Dubko, Margarita F / Kalashnikova, Olga V / Chasnyk, Vyacheslav G / Cron, Randy Q

Frontiers in pediatrics

2022 Volume 10, Page(s) 894846

Abstract: Objective: Macrophage activation syndrome (MAS) is a life-threatening, potentially fatal condition associated with systemic juvenile idiopathic arthritis (sJIA). Interleukin-1 (IL-1) is a key cytokine in the pathogenesis of sJIA MAS. Many cases of MAS ... ...

Abstract	Objective: Macrophage activation syndrome (MAS) is a life-threatening, potentially fatal condition associated with systemic juvenile idiopathic arthritis (sJIA). Interleukin-1 (IL-1) is a key cytokine in the pathogenesis of sJIA MAS. Many cases of MAS are medically refractory to traditional doses of biologic cytokine inhibitors and may require increased dosing. When MAS occurs in the setting of sJIA treated with the IL-1 receptor antagonist (IL-1Ra), anakinra, increased anakinra dosing may be beneficial. Increased dosing of another IL-1 inhibitor, canakinumab, a monoclonal antibody to IL-1β, has not been reported to treat refractory MAS in the setting of sJIA. Methods: Retrospective data collection extracted from the electronic medical record focused on canakinumab usage and dosing in 8 children with sJIA who developed MAS at a single academic center from 2011 to 2020. Results: Eight sJIA children (five girls) with median age 8.5 years (range, 0.9-14.2 years) were included in the present study. Five children developed MAS at disease onset and three during ongoing canakinumab therapy. MAS resolved in all eight children with canakinumab treatment. When the canakinumab dosing was insufficient or MAS developed during canakinumab therapy, the dosing was temporally up-titrated (four patients, maximum 300 mg per dose) without observed side effects. Conclusion: This report provides evidence for the efficacy and safety of short-term increased doses (2-3-times normal) of canakinumab in treating sJIA associated MAS. Further study of the efficacy and safety of increased doses of canakinumab for treatment of MAS in children with sJIA is warranted.
Language	English
Publishing date	2022-07-28
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2022.894846
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Article: The Comparison of Pediatric Patients with Familial Mediterranean Fever Originated from Turkey and Crimea.

Kostik, Mikhail / Akca Kaya, Ummusen / Zhogova, Olga V / Sag, Erdal / Suspitsin, Evgeny N / Nizhnik, Viktoriya I / Tumakova, Anastasiya V / Ivanovskiy, Sergey V / Lagunova, Natalia V / Bilginer, Yelda / Ozen, Seza

Turkish archives of pediatrics

2022 Volume 57, Issue 5, Page(s) 551–557

Abstract: ... familial Mediterranean fever patients with Crimean Tatar nationality (n = 18) in Children's Regional Hospital in Simferopol ...

Abstract	Objective: We aimed to evaluate the clinical and laboratory features and MEFV allele distribution in Crimean Tatar familial Mediterranean fever patients and to compare them with Turkish familial Mediterranean fever patients and healthy controls. Materials and methods: All newly diagnosed familial Mediterranean fever patients with Crimean Tatar nationality (n = 18) in Children's Regional Hospital in Simferopol were enrolled in the study and were compared to 40 familial Mediterranean fever cases followed up at Hacettepe University, Ankara, Turkey. The distribution of MEFV alleles was assessed in the 127 unrelated healthy Crimean Tatar adults aged 20 years or more from different parts of the Crimea peninsula. Results: Age and gender distribution, the frequency of colchicine resistance, and colchicine intolerance were similar between Turkish and Crimean Tatar children with familial Mediterranean fever. The duration of familial Mediterranean fever attack was shorter in Turkish patients than in Crimean Tatar (2.0 vs. 3.0 days, P < .001). Chest pain was more frequent in Turkish familial Mediterranean fever patients, whereas arthralgia, arthritis, and erysipeloid rash were more common in Crimean TatarT. MEFV allele distribution in Crimean Tatar was M694V-81%, M680I and V726A 9.5% both, and 68.6%, 14.3%, and 12.9% in Turkish, consequently. Homozygous carriers were 11%, compound-heterozygous was 6%, and heterozygous was 83%, compared to Turkish being 45%, 30%, and 25%, respectively. The allele distribution in healthy Crimean Tatar and Turkish was 10.2% and M694V was 7.1%, M680I was 1.6%, and V726A was 1.6%. Conclusion: The similar MEFV allele prevalence in both populations suggests the high prevalence of familial Mediterranean fever and the high number of undiagnosed patients in the Crimea peninsula. Younger age at onset, shorter duration of attacks, the prevalence of articular involvement, and erysipeloid rash were distinctive features of familial Mediterranean fever in Crimean Tatar.
Language	English
Publishing date	2022-09-05
Publishing country	Turkey
Document type	Journal Article
ISSN	2757-6256
ISSN	2757-6256
DOI	10.5152/TurkArchPediatr.2022.22106
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