scholarly journals Maffucci Syndrome Complicated by Giant Chondrosarcoma in the Left Ankle with an IDH1 R132C Mutation: Case Report

2021 ◽  
Author(s):  
Haiyan Lv ◽  
Hantao Jiang ◽  
Minge Zhang ◽  
Huarong Luo ◽  
Zhenghua Hong ◽  
...  
Keyword(s):  
Case Report ◽  
Malignant Tumors ◽  
Tumor Development ◽  
Clinical Manifestations ◽  
Isocitrate Dehydrogenase 1 ◽  
Maffucci Syndrome ◽  
Left Ankle ◽  
Increased Risk ◽  
Amputation Surgery ◽  
Generation Sequencing

Abstract Background: Maffucci syndrome is a rare, nonhereditary congenital mesodermal dysplasia characterized by multiple enchondromas and hemangiomas. It is associated with an increased risk of the development of malignant tumors. We present a case of 45-year-old man with Maffucci syndrome to supplement the clinical manifestations and explore the molecular mechanism of Maffucci syndrome.Results: The patient was underwent amputation surgery to inhibit tumor development and diagnosed as Maffucci syndrome with 1-2 grade giant chondrosarcoma in the left ankle. In addition, the whole exon analysis by Next Generation Sequencing revealed isocitrate dehydrogenase 1 R132C mutation in chondrosarcoma lesions but not in blood DNA. Conclusions: This case report presents the genetic evidence for the inclusion of chondrosarcoma among tumors characterizing Maffucci syndrome. Consequently, it is suggested that patients with Maffucci syndrome should be followed up more actively to exclude neoplasms due to IDH1 R132C somatic mutation.

scholarly journals Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome

2021 ◽  
pp. mcs.a006127
Author(s):  
Natasha J. Brown ◽  
Zimeng Ye ◽  
Chloe Stutterd ◽  
Sureshni I. Jayasinghe ◽  
Amy Schneider ◽  
...  
Keyword(s):  
Adult Male ◽  
Spindle Cell ◽  
Malignant Tumors ◽  
Digital Pcr ◽  
Peripheral Blood Lymphocytes ◽  
Pcr Analysis ◽  
Gain Of Function ◽  
Maffucci Syndrome ◽  
Increased Risk ◽  
Spindle Cell Hemangioma

Maffucci Syndrome is a rare, highly variable somatic mosaic condition and well-known cancer related gain-of-function variants in either the IDH1 or IDH2 genes have been found in the affected tissues of most reported patients. Features include benign enchondroma and spindle cell hemangioma, with a recognized increased risk of various malignancies. Fewer than 200 cases have been reported, therefore accurate estimates of malignancy risk are difficult to quantify and recommended surveillance guidelines are not available. The same gain-of-function IDH1 and IDH2 variants are also implicated in a variety of other benign and malignant tumors. An adult male presented with several soft palpable lesions on the right upper limb. Imaging and histopathology raised the possibility of Maffucci syndrome. DNA was extracted from peripheral blood lymphocytes and tissue surgically resected from a spindle-cell hemangioma. Sanger sequencing and Droplet-digital PCR analysis of the IDH1 gene was performed. We identified a somatic mosaic c.394C>T (p.R132C) variant in exon 5 of IDH1, in DNA derived from hemangioma tissue at ~ 17% mutant allele frequency. This variant was absent in DNA derived from blood. This variant has been identified in the affected tissue of most reported patients with Maffucci syndrome Although the patient has a potentially targetable variant, and there is a recognized risk of malignant transformation in this condition, a decision was made not to intervene with an IDH1 inhibitor. The reasons and prospects for therapy in this condition are discussed.

scholarly journals Malignant Melanoma in Child with Xeroderma Pigmentosum: A Rare Case

2020 ◽  
Vol 32 (1) ◽  
pp. 70
Author(s):  
Riezky Januar Pramitha ◽  
Sawitri Sawitri
Keyword(s):  
Malignant Melanoma ◽  
Cell Carcinoma ◽  
Xeroderma Pigmentosum ◽  
Excision Repair ◽  
Genetic Disorder ◽  
Tumor Development ◽  
Clinical Manifestations ◽  
The Body ◽  
Malignant Neoplasms ◽  
Increased Risk

Background: Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder characterized by photosensitivity, cutaneous pigmentary changes, and malignant tumor development at an early age. The basic defect underlying the clinical manifestations is nucleotide excision repair defect, leading to defective repair of ultraviolet (UV)-induced DNA. XP patients who are younger than 20 years of age have more than 1000-fold increased risk of developing malignant neoplasms of the skin, which commonly include squamous cell carcinoma, basal cell carcinoma, fibrosarcoma, and malignant melanoma. Malignant melanoma arises in only about 3% of XP patients. Purpose: To report a case of malignant melanoma in a child with XP. Case: A 7-years-old girl presented with multiple hypopigmentation and hyperpigmentation macules since age of two, throughout the body, more on sun-exposed areas. The physical examination showed solitary tumor extensive ulcero- proliferative surface with areas of hemorrhage and blackish pigmentation on the vertex region. Histological examination revealed a feature of nodular malignant melanoma, and the condition became worse after she underwent two cycles of chemotherapy. Discussion: Despite the rare occurrence, the nodular type of malignant melanoma in XP patients is the most aggressive and responsible for the fatal condition. Conclusion: Early detection of XP is necessary due to its fast-growing nature and high metastatic possibility as well as mortality index.

scholarly journals Glioblastoma in the Cerebellopontine Angle in a Patient with Neurofibromatosis Type I: A Case Report and Review of the Literature

2019 ◽  
Vol 2 (02) ◽  
pp. 72-75
Author(s):  
Mohammad Kareem Shukairy ◽  
Andrea M. Ziegler ◽  
Douglas E. Anderson ◽  
John P. Leonetti
Keyword(s):  
Case Report ◽  
Cerebellopontine Angle ◽  
Malignant Tumors ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Increased Risk ◽  
Facial Numbness ◽  
History Of ◽  
Pain Patients

Abstract Introduction Glioblastoma multiforme (GBM) is the most common primary brain malignancy in adults and is typically in the supratentorial cerebral hemispheres. It has been reported to occur in the posterior fossa at the cerebellopontine angle (CPA), but the incidence is extremely rare. Case Report We report a case of a patient with a history of neurofibromatosis type I (NFI) diagnosed with a GBM arising in the CPA after presenting with facial numbness and pain. Patients with NFI are known to have an increased risk of developing both benign and malignant tumors, including a propensity for brainstem gliomas. However, there is no known association between NFI and tumors of the CPA. We believe this is the first reported case of a GBM of the CPA in a patient with NFI. Conclusion Although rare, GBM should be included in the differential diagnosis of a patient with a CPA tumor, especially in patients with increased risk of malignant pathology.

DEFICIENCY OF LRBA: BIBLIOGRAPHICAL REVIEW AND CASE REPORT

2021 ◽  
Vol 100 (2) ◽  
pp. 192-203
Author(s):  
I.V. Kondratenko ◽  
◽  
S.S. Vakhlayrskaya ◽  
D.V. Rogozhin ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Genetic Basis ◽  
Clinical Manifestations ◽  
Main Role ◽  
Principles Of Treatment ◽  
The Subject ◽  
Next Generation Sequencing Ngs ◽  
Lrba Deficiency ◽  
Generation Sequencing

Since the description of the first primary immunodeficiencies (PIDs) in the 50–60s of the last century, they have been the subject of intensive research aimed at elucidating their etiology and finding effective treatments. The development of next-generation sequencing (NGS) methods made it possible to reveal the genetic basis of many new forms of PID, which were previously attributed to various syndromes due to their clinical and immunological characteristics. An example of such a PID is the LRBA (the lipopolysaccharide-responsive and beige-like anchor protein) deficiency, sometimes called LATAIE [LRBA deficiency with autoantibodies, regulatory T (Treg) cell defects, autoimmune infiltration, and enteropathy]. The article provides information on the main role of the LRBA molecule in the functions of immunocompetent cells, describes immunological disorders and clinical manifestations of LRBA deficiency and the principles of treatment of diseases. Two own observations of LRBA deficiency are presented.

scholarly journals Seborrheic keratosis evolution into squamous cell carcinoma: A truly modified sun-related tumor? A case report and review of the literature

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Ioana Cimpean ◽  
Ivan Theate ◽  
Olivier Vanhooteghem
Keyword(s):  
Squamous Cell Carcinoma ◽  
Case Report ◽  
Malignant Transformation ◽  
Histopathological Examination ◽  
Clinical Manifestations ◽  
Immunocompromised Patients ◽  
Review Of The Literature ◽  
Seborrheic Keratosis ◽  
Increased Risk

The incidence of seborrheic keratosis (SK) generally increases with age and are mostly localized on the trunk, face and neck, especially on sun-exposed areas. The association between SK and skin malignancies appears to be accidental, but in situ transformation occurs more frequently in sun-exposed areas. Histopathological examination of all SK cases should be considered, especially when SK lesions exhibit atypical clinical manifestations, such as ulceration and cresting, as they may herald malignant transformation. In addition, other features associated with malignant transformation include excoriations or hemorrhages identified on the lesion, modification and evolution of the macroscopic characteristics, and the presence of local erythema or pruritus. Immunocompromised patients exhibit an increased risk of malignant transformation, even when radiation is involved.

scholarly journals Vulvar Malignancy in Neurofibromatosis Syndrome

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Angela Musella ◽  
Innocenza Palaia ◽  
Lavinia Domenici ◽  
Assunta Casorelli ◽  
Angela Martoccia ◽  
...  
Keyword(s):  
Genital Tract ◽  
Malignant Tumors ◽  
Clinical Manifestations ◽  
Surgical Excision ◽  
Neurologic Disorder ◽  
Café Au Lait Spots ◽  
Increased Risk ◽  
Lisch Nodules ◽  
Vulvar Mass

Type 1 neurofibromatosis (NF1) is a dominantly inherited neurologic disorder that affects primarily the skin, bones, and peripheral nervous system. It may be associated with a variety of clinical manifestations including cafe-au-lait spots, skinfold freckling, Lisch nodules, and visceral neurofibromas. Individuals affected by NF1 harbor an increased risk for both benign and malignant tumors. Malignant transformation is usually observed in the form of neurosarcoma. Rarely, NF1 affects the genital tract, and isolated vulvar localization is extremely rare. Here is reported a rare case of a solitary neurosarcoma of the vulva in a 43-year-old woman affected by NF1 syndrome treated with surgical excision. The purpose of this case is to underline the possibility of association between NF1 and genital tract sarcoma and to suggest an accurate evaluation of rapid growth vulvar mass in this setting.

Screening for Rare Genetic Variants Associated with Atherosclerosis: Opportunity for Personalized Medicine

2018 ◽  
Vol 17 (1) ◽  
pp. 25-28 ◽  
Author(s):  
Ana Peterlin ◽  
Daniel Petrovič ◽  
Borut Peterlin
Keyword(s):  
Personalized Medicine ◽  
Disease Burden ◽  
Clinical Manifestations ◽  
Genomic Technologies ◽  
Increased Risk ◽  
Public Health Challenges ◽  
Rare Genetic Variants ◽  
Atherosclerosis Prevention ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Atherosclerosis and its clinical manifestations is a leading cause of disease burden worldwide. Currently, most of the individuals carrying a strong predisposition to complications of atherosclerosis because of monogenic dyslipidaemias remain undiagnosed and consequently are not given an opportunity for prevention. Therefore, one of the main public health challenges remains the identification of individuals with significantly increased risk for atherosclerosis due to monogenic predisposition. Next-Generation Sequencing (NGS) has revolutionized genetic testing in symptomatic patients. Although new genomic technologies are still developing, and evidence on the use of this methodology for screening purposes is still lacking, genome testing might provide a powerful tool for the identification of individuals at risk. This may pave the way for the implementation of personalized medicine in the field of atherosclerosis prevention. </P><P> In this review, we discuss the potential of genetic screening for atherosclerosis prevention and present the potential target of 17 genes responsible for monogenic dyslipidaemias associated with atherosclerosis.

scholarly journals Case Report: Fascioliasis Hepatica Precisely Diagnosed by Metagenomic Next-Generation Sequencing and Treated With Albendazole

2021 ◽  
Vol 8 ◽  
Author(s):  
Yaling Zhang ◽  
Huan Xu ◽  
Yi Liu ◽  
Juan Kang ◽  
Hairu Chen ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Clinical Decision Making ◽  
Fasciola Hepatica ◽  
Malignant Tumors ◽  
Clinical Manifestations ◽  
Clinical Decision ◽  
The Body ◽  
Therapeutic Effects ◽  
Next Generation ◽  
Generation Sequencing

The clinical manifestations of fascioliasis hepatica in humans are unspecific. Traditional diagnosis relies on evidence of live parasites or eggs in the bile or feces. However, due to similar imaging manifestations, they are often misdiagnosed as malignant tumors. Here, we report a case of a 43-year-old woman with fever and space-occupying liver disease. Liver biopsy, parasite-specific antibody screening, and stool testing did not find any pathogens. Therefore, metagenomic next-generation sequencing (mNGS) and routine microbiological examinations were performed. Finally, Fasciola hepatica was only identified by mNGS. The body temperature of the patient and the eosinophil count remained normal, and the space-occupying liver lesions were significantly absorbed after more than 7 months of treatment with albendazole. The details of this case highlight the timely use of mNGS to identify parasites and judge therapeutic effects after treatment, providing important help for clinical decision-making.

Comparative analysis of polymorphic variants of IL-17A and MMP-1 genes with the risk of developing chronic periodontitis in petrochemical workers

2020 ◽  
Vol 60 (10) ◽  
pp. 687-693
Author(s):  
Iskander I. Zaidullin ◽  
Denis O. Karimov ◽  
Lilija K. Karimova ◽  
Milyausha F. Kabirova ◽  
Rasima R. Galimova ◽  
...  
Keyword(s):  
Ethylene Oxide ◽  
Chronic Periodontitis ◽  
Periodontal Diseases ◽  
Clinical Manifestations ◽  
Control Group ◽  
Periodontal Tissues ◽  
Dental Examination ◽  
Number Of Patients ◽  
Increased Risk ◽  
Harmful Substances

The susceptibility to the development and progression of inflammatory periodontal diseases, which depends on genetic and external factors (smoking, stress, oral hygiene), varies widely. In the development of these diseases, an important role is played not only by the presence of periodontal pathogenic microorganisms, but also by the presence of congenital or acquired immunodeficiency, immunoregulatory defects. The immune system plays a key role in the physiological and pathological processes of periodontal tissues. In this regard, IL17, produced by CD4+ Th cells, which has both Pro-inflammatory and protective activity, is of particular interest in the pathogenesis of periodontitis. The aim of study was to identify the relationship between polymorphic loci of the IL-17A (rs2275913) and MMP-1 (rs1799750) genes and clinical manifestations of chronic periodontitis in petrochemical workers. Dental examination was performed in 92 ethylene oxide production workers with chronic periodontitis and 74 patients with chronic periodontitis who did not come into contact with chemical factors (control group). Genotyping of polymorphisms rs2275913 of the IL17A gene and rs1799750 of the MMP1 gene was performed by allele-specific real-time polymerase chain reaction (PCR). Hygienic assessment of the degree of air pollution of the working area with harmful substances was carried out by gas chromatography according to the guidelines for the determination of harmful substances in the air № 5098-89, № 3119-84. When comparing the results of studies of both groups, there were no statistically significant differences in the frequency distributions of allelic variants and genotypes of the IL-17A and MMP-1 genes. The AA/AG genotypes of the IL-17A gene were associated with an increased risk of severe disease compared to the GG genotype in workers in the main group (OR=6.1; 95% CI 1.33-28.5; p=0.021) and in the control group (OR=7.26; 95% CI 1.34-39.25; p=0.016). Carriers of the A allele in the control group increased the risk of severe chronic periodontitis by 2.4 times compared to carriers of the G allele (OR=2.41; 95% CI 1.19-4.87; p=0.014). During the dental examination of employees of the ethylene oxide plant, the clinical course of periodontal diseases was more severe in comparison with the control group, and the number of patients with severe periodontitis was twice as high. It was found that the AA/AG genotypes of the IL-17A gene and the carrier of the A allele are associated with increased susceptibility to the development of severe chronic periodontitis. The association between the MMP-1 gene polymorphism and the risk of severe forms of chronic periodontitis has not been established. A risk factor for the development of inflammatory periodontal diseases in employees of the petrochemical complex is a complex of harmful production factors.

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