scholarly journals Muir–Torre syndrome case associated with a hereditary MSH2 mutation

2021 ◽  
Vol 10 (1) ◽  
pp. 66-70
Author(s):  
A.V. Kaminskiy ◽  
◽  
I.L. Plaksa ◽  
◽  
Keyword(s):  
Clinical Case ◽  
Immunohistochemical Study ◽  
Malignant Tumors ◽  
Germline Mutations ◽  
Skin Tumor ◽  
Repair System ◽  
Msh2 Gene ◽  
Sebaceous Glands ◽  
Reading Frame ◽  
Patient’S History

Muir–Torre syndrome combines skin tumors with sebaceous differentiation with malignant tumors of the gastrointestinal tract, which is caused by hereditary mutations in the genes of the mismatched nucleotide repair system. The article presents a clinical case of a 42-year old man who complained of an exophytic skin tumor on the back measuring 2.3 × 1.8 cm. At histological examination, the tumor was presented primarily with sebaceous differentiatied cells, which corresponded to adenoma of the sebaceous glands. From the patient’s history it became known that at the age of 37 he underwent hemicolectomy for high-differentiated adenocarcinoma. An immunohistochemical study with antibodies to proteins of the mismatched nucleotide repair system in a tumor sample revealed the absence of a nuclear reaction in tumor cells with antibodies to MLH1 and MSH2 proteins, which indicates the presence of germline mutations in these genes. High-throughput semiconductor parallel DNA sequencing revealed a variant of the nucleotide sequence in exon 12 of the MSH2 gene (c.1797_1801 del), leading to a shift in the reading frame (NM_000251: p.L599fs). Keywords: Muir–Torre syndrome, colorectal cancer, repair system, wrong-paired bases

Rare localization of renal cell carcinoma metastases in the paranasal sinuses and breast: a case report

2019 ◽  
Vol 22 (6) ◽  
pp. 13-22
Author(s):  
E. V. Kryaneva ◽  
N. A. Rubtsova ◽  
A. V. Levshakova ◽  
A. I. Khalimon ◽  
A. V. Leontyev ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Paranasal Sinuses ◽  
Renal Cell ◽  
Clinical Case ◽  
Clear Cell ◽  
Malignant Tumors ◽  
Metastatic Potential ◽  
Cell Renal Cell Carcinoma ◽  
Metastatic Lesions

This article presents a clinical case demonsratinga high metastatic potential of clear cell renal cell carcinoma combined with atypical metastases to breast and paranasal sinuses. The prevalence of metastatic lesions to the breast and paranasal sinuses in various malignant tumors depending on their morphological forms is analyzed. The authors present an analysis of data published for the last 30 years. The optimal diagnostic algorithms to detect the progression of renal cell carcinoma and to evaluate the effectiveness of the treatment are considered.

scholarly journals HGG-21. GERMLINE MUTATIONS IN MSH2 GENE IN PEDIATRIC PATIENTS WITH CONGENITAL AND SPORADIC GLIOBLASTOMA

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii348-iii348
Author(s):  
Maria Ejmont ◽  
Małgorzata Rydzanicz ◽  
Wiesława Grajkowska ◽  
Marta Perek-Polnik ◽  
Agnieszka Sowińska ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Response To Therapy ◽  
Msh2 Gene ◽  
Illumina Hiseq ◽  
Adult Type ◽  
Targeted Next Generation Sequencing ◽  
Pathogenic Variants ◽  
New Treatment ◽  
Next Generation Sequencing Ngs ◽  
Ngs Data

Abstract INTRODUCTION Glioblastoma (GBM) remains one of the biggest therapeutic challenges in neuro-oncology. In spite of multimodal treatment approaches the prognosis of GBM is extremely poor, median survival is estimated about 12–16 months. Although GBM is one of the most common and malignant primary brain tumors, pediatric glioblastoma, including congenital is a very rare tumor, with an incidence of about 1.1–3.4 per million live births. Moreover, the mode of presentation, behavior, response to therapy and molecular background of pediatric glioblastomas differs from adult type of GBM. Until now, about ten patients with congenital glioblastoma have been described and in none of them germline markers were examined. Here we report two patients with GBM, one with congenital tumor with germline mutations in MSH2 gene. METHODS Targeted Next-Generation Sequencing (NGS) of the probands DNA extracted from leucocytes was performed using the TruSight One sequencing panel on an Illumina HiSeq 1500. Applied gene panel investigated the coding sequence and splice sites of 4813 genes associated with known disease phenotypes. The NGS data were analyzed using an in-house procedure. Identified variants were validated by Sanger sequencing. RESULTS NGS analysis of patients constitutional DNA revealed know, pathogenic variants c.940C>T and c.942 + 3A>T in MSH2 gene (NM_000251.3) associated with MMR-dependent hereditary cancer syndromes. CONCLUSION Molecular analysis are heavily needed for better understanding of pediatric GBM etiology and new treatment modality implementation. Identification of this oncogenic driver may provide insight into the pathogenesis of GBM, including congenital cases. Funded by National Science Centre, Poland (2016/23/B/NZ2/03064 and 2016/21/B/NZ2/01785).

scholarly journals А сlinical case report of mediastinal teratoma in an adolescent patient with Klinefelter syndrome

2020 ◽  
Vol 19 (4) ◽  
pp. 143-149
Author(s):  
S. S. Saliyeva ◽  
R. Z. Boranbayeva ◽  
B. M. Zhumadullayev ◽  
K. E. Khairov ◽  
E. V. Krivenko ◽  
...  
Keyword(s):  
Clinical Case ◽  
Multidisciplinary Approach ◽  
Klinefelter Syndrome ◽  
Malignant Tumors ◽  
Complete Removal ◽  
Cell Tumor ◽  
Growing Teratoma Syndrome ◽  
Mediastinal Teratoma ◽  
Mature Type ◽  
Derivatives Of

Teratoma is a germ cell tumor, which consists of derivatives of three germ layers and has various malignant potentials – from benign mature forms to immature embryonic forms with a somatic type of malignancy. Even the mature type of teratoma is biologically unpredictable providing for an ability to grow locally with invasion. Necessity for complete removal of tumors, wherever they are located, is explained by the fact that there is a risk of a possible development of growing teratoma syndrome or transformation into malignant tumors. This article describes the clinical case of growing teratoma syndrome of mediastinal localization in a teenager with Klinefelter syndrome, also as an example of the multidisciplinary approach of pediatric oncologists, surgeons, radiotherapists and pathomorphologists in decision-making for optimal treatment. The patients' parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.

scholarly journals Identification of an MSI-H Tumor-Specific Cytotoxic T Cell Epitope Generated by the (−1) Frame ofU79260(FTO)

2010 ◽  
Vol 2010 ◽  
pp. 1-6 ◽  
Author(s):  
Michael Linnebacher ◽  
Anne Wienck ◽  
Inga Boeck ◽  
Ernst Klar
Keyword(s):  
T Cell ◽  
Dna Sequences ◽  
Immune Surveillance ◽  
Cell Epitope ◽  
Cytotoxic T Cell ◽  
Repair System ◽  
T Cell Epitope ◽  
Reading Frame ◽  
Dna Mismatch ◽  
Dna Mismatch Repair System

Microsatellite instability (MSI-H) induced by defects of the DNA mismatch repair system results in insertion or deletion of single nucleotides at short repetitive DNA sequences. About 15% of sporadic and approximately 90% of hereditary nonpolyposis colorectal cancers display MSI-H. When affecting coding regions, MSI-H results in frameshift mutations and expression of corresponding frameshift peptides (FSPs). Functional tumor promoting relevance has been demonstrated for a growing number of genes frequently hit by MSI-H. Contrary, immune reactions against FSPs are involved in the immune surveillance of MSI-H cancers. Here, we provide conclusive data that the (−1) frame ofU79260(FTO)encodes an HLA-A0201-restricted cytotoxic T cell epitope (FSP11; TLSPGWSAV). T cells specific for FSP11 efficiently recognized HLA-A0201(pos)tumor cells harboring the mutated reading frame. Considering the exceptionally high mutation rate ofU79260(FTO)in MSI-H colorectal carcinoma (81.8%), this recommends that FSP11 be a component of future vaccines.

scholarly journals Poorly Differentiated Chordoma: Case Review

2020 ◽  
Vol 3 (4) ◽  
pp. 86-93
Author(s):  
N. V. Kochergina ◽  
I. V. Boulytcheva ◽  
S. N. Prokhorov ◽  
A. B. Bludov ◽  
A. V. Fеdorova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Research Methods ◽  
Female Patient ◽  
Clinical Case ◽  
Immunohistochemical Study ◽  
Case Review ◽  
Immunohistochemical Examination ◽  
Imaging Methods ◽  
Wide Range ◽  
Poorly Differentiated

Purpose: Demonstrate a clinical case of poorly differentiated chordoma, confirmed using a wide range of research methods.Material and methods: A 63-year-old female patient with poorly differentiated chordoma who underwent immunohistochemical examination, MRI, CT and scintigraphy.Results: An immunohistochemical study confirmed the morphological affiliation of the tumor, supplemented by the data of imaging methods.Conclusion: The poorly differentiated type of chordoma has a specific immunohistochemical picture, however, differential diagnosis based on imaging methods is currently a difficult task.

scholarly journals Anesthetic aspects of the resection of hormone-active carotid chemodectomas: a clinical case and literature review

2020 ◽  
Vol 17 (5) ◽  
pp. 95-105
Author(s):  
A. A. Kurbasov ◽  
A. V. Shmigelskiy ◽  
A. D. Аkhmedov ◽  
V. A. Lukshin ◽  
D. Yu. Usachev
Keyword(s):  
Clinical Case ◽  
Antihypertensive Drugs ◽  
Clinical Signs ◽  
Heart Rhythm ◽  
Hormonal Activity ◽  
Biochemical Tests ◽  
History Of ◽  
Adrenergic Blockers ◽  
Arterial Tension ◽  
Patient’S History

The article describes a clinical case - the resection of the hormone- active tumor of the carotid glomus. The hormonal activity of the tumor was suspected based on data of the patient's history, (malignant arterial hypertension with sharp rises in arterial tension, episodes of the increased arterial tension during mechanical impact on the tumor) and hemodynamic parameters during surgery (heart rhythm disturbances after induction of anesthesia and pronounced hypertensive reactions when manipulating the tumor tissue). The article reviews publications on anesthetic support during the resection of hormone-active chemodectomas.Detection of typical clinical signs such as hypertension, tachycardia, fever, headaches, etc. in the history of patients with chemodectoma may suggest hormonal activity of the tumor. Biochemical tests that determine the level of catecholamines and their breakdown products can confirm the diagnosis. When planning surgery, the anesthesiologist should be prepared for the development of the relevant complications. Hypertension, as the most frequent complication, should be prevented by preoperative adrenergic blockers and treated intraoperatively with short-acting antihypertensive drugs. After exclusion of the tumor from the bloodstream, it is necessary to prepare for the development of hypotension.

scholarly journals Differentiation of hypoglycemic states according to their heterogeneity (review and personal observation)

2020 ◽  
Keyword(s):  
Diabetes Mellitus ◽  
Clinical Trials ◽  
Personal Experience ◽  
Clinical Case ◽  
Malignant Tumors ◽  
Underlying Disease ◽  
Personal Observation ◽  
Adequate Treatment ◽  
Strict Adherence ◽  
Instrumental Methods

The article is dedicated to the problems of differentiated diagnostics of conditions, which are accompanied by the development of hypoglycemia. In clinical practice hypoglycemic syndrome usually associated with diabetes mellitus and considered as consequences of hypoglycemic treatment but causes of this conditions can be different. In the review possible causes of low blood sugar of endocrine and non-endocrine genesis are discussed, their pathogenetic mechanisms are explained.It is emphasized that often hypoglycemic states remain undiagnosed on the background of existing severe somatic pathology, while they can be the cause of deterioration, coma, and sometimes even death of the patient. Among the causes of hypoglycemic states of non-endocrine origin, malignant tumors occupy a special place, as illustrated by the clinical case from personal experience presented in the article.Analyzing this medical history, it should be noted that not always the diagnosis, which seemed obvious at first, is confirmed after a thorough examination of the patient. In addition, the genesis of hypoglycemic seizures often cannot be established as quickly as in our clinical case, especially in oncologic pathology. It may be due to the small size of the malignancy, difficult availability of the tumor for imaging by instrumental methods and other factors. Numerous diagnostic algorithms for determining the cause of hypoglycemic states have been described in the literature, but each of the following algorithms only complements the previous one, taking into account the results of new clinical trials. The article emphasizes that strict adherence to modern guidelines for the management of patients with hypoglycemia will not only promote the timely establishment of the etiological factor of this condition and adequate treatment of the underlying disease, but also improve the quality and sometimes save the patient’s life.

Germline mutations in MSH2 and ATM gene in patients with GIST (gastrointestinal stromal tumor) and second epitelial tumors.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e23520-e23520
Author(s):  
Silvia Gasperoni ◽  
Laura Papi ◽  
Francesca Castiglione ◽  
Francesca Gensini ◽  
Roberta Sestini ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Lynch Syndrome ◽  
Colon Adenocarcinoma ◽  
Germline Mutations ◽  
Genetic Alterations ◽  
Second Primary ◽  
Sequencing Analysis ◽  
Msh2 Gene ◽  
Primary Tumors ◽  
Therapeutic Implications

e23520 Background: In adult GISTs are frequently sporadic, while rarely GISTs are linked to Carney Triad and Carney-Stratakis Syndrome and NF1. GISTs with second primary tumors are reported in 4-33% of patients in literature and genetic counseling is suggested to explore an underlying germline mutations pathway. Methods: In our Academic Hospital Centre (EURACAN member) in Florence, Italy, we are following patients with GIST and multiple primary tumors with genetic counseling (72 GISTs with second tumors/185 patients with GIST) and germline analysis of the following genetic panel is performed as clinically indicated: BRCA1, BRCA2, MUTYH, MLH1, MSH2, MSH6, CDH1, ATM, TP53, PTEN, CHECK2, PALB2, BARD1, BRIP1, BLM, RAD51C, RAD51D, XRCC2, PMS2, MRE11A, RAD50, NBN, FAM175A, EPKAM, TSK1, MEN1 by sequencing analysis with Illumina MiSeq by kit multiplicom BRCA Hereditary cancer Mastr plus, and bioinformatic analysis by software SOPHIADDM (Sophia genetics) for point genetic alterations of BRCA1 NM_007294.3, BRCA2 NM_000059.3, MUTYH NM_000249, MSH2 NM_000251, MSH6 NM_000179, CDH1 NM_00444360, ATM NM_000051, TP53 NM_000546, PTEN NM_000314, CHEK2 NM_001005735, PALB2 NM_024675, BARD1 NM_000465, BRIP1 NM_032043, BLM NM_000057, RAD51C NM_002876, RAD51D NM_001142571, XRCC2 NM_005431, PMS2 NM_000535, MRE11A NM_005590, RAD50 NM_006732, NBN NM_002485, FAM175A NM_139076, EPCAM NM_002354, STK1 NM_000455, MEN1 NM_000244 and MLPA (Multiplex Ligation-dependent Probe Amplification) test analysis for patients with kit P087-BRCA1,P045-BRCA2(CHEK2, P248-MLH1-MSH2, P003-MLH1/MSH2, P072-MSH6-MUTYH (MRC-Holland). Results: In 3 patients germline mutations have been observed: 1 patient showed the c.1192dupG, p.(Ala398Glyfs*19) pathogenic mutation in exon 7 of MSH2 gene, confirmed by Sanger Sequencing, 1 patient showed c.565-?_1130+?del mutation consisting in heterozygous 3-4-5-6 exons deletion of MSH2 gene, confirmed by MLPA analysis, and in 1 patient the following ATM alteration has been identified in heterozygosis: ATM c.5319+2T > C, p.(?). In the 2 patients with Lynch syndrome with colon adenocarcinoma (MSI-H), synchronous GISTs (1 patient quadruple WT and 1 patient kit ex 11 mutated ) were diagnosed; in the patient with ATM mutation, the diagnosis of GIST (kit ex 11 mutated) occurred after prostate adenocarcinoma and before colon adenocarcinoma (MSI-H). Conclusions: Our analysis suggests that GIST diagnosis could be tumor-related to multiple hereditary tumor syndromes as Lynch Syndrome and Ataxia-Teleangectasia syndrome, the latter being linked in eterozygosis to tumor susceptibility to breast in female. This report represents a high value in terms of genetic counseling for relatives and in terms of therapeutic implications for the patients.

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