scholarly journals Novel TNC-PDGFD fusion in fibrosarcomatous dermatofibrosarcoma protuberans: a case report

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Yuan Chen ◽  
Ying-zhou Shi ◽  
Xiao-he Feng ◽  
Xiao-tong Wang ◽  
Xiang-lei He ◽  
...  
Keyword(s):  
De Novo ◽  
Polymerase Chain Reaction Amplification ◽  
Smooth Muscle Actin ◽  
Dermatofibrosarcoma Protuberans ◽  
Fusion Transcript ◽  
Metastatic Potential ◽  
Chromosome Translocation ◽  
High Rate ◽  
Increased Risk ◽  
The Right

Abstract Background Dermatofibrosarcoma protuberans (DFSP) is a superficial fibroblastic tumor characterized by high rate of local recurrence and low metastatic potential. Fibrosarcomatous transformation can rarely arise in DFSP either de novo or as recurrent, which represents a form of tumor progression and carries an increased risk of metastasis over classic DFSP. Cytogenetically, DFSP is characterized by a recurrent unbalanced chromosome translocation t (17;22)(q22;q13), leading to the formation of COL1A1-PDGFB fusion transcript that is present in more than 90% of cases. Alternative fusions involving the PDGFD with partners of COL6A3 or EMILIN2 have recently been documented in less than 2% of cases. Herein, we report a DFSP with fibrosarcomtous morphology harboring a novel TNC-PDGFD fusion. Case presentation A 54-year-old female presented with a slowly growing mass in the right thigh. Excision demonstrated a 2-cm ovoid, well-circumscribed, gray-white, mass. Microscopic examination revealed a partially encapsulated subcutaneous nodule without dermal connection. The neoplasm was composed of cellular and fairly uniform spindle cells with brisk mitoses, arranged in elongated fascicles and herringbone patterns, with focal collagenized stroma. The neoplastic cells were positive for CD34 and smooth muscle actin. Fluorescence in-situ hybridization analyses showed negative for COL1A1-PDGFB fusion as well as NTRK1/2/3 rearrangements. A subsequent RNA sequencing detected an in-frame fusion between exon 15 of TNC and exon 6 of PDGFD. This fusion was further confirmed by nested reverse transcription polymerase chain reaction amplification followed by Sanger sequencing. A diagnosis of fibrosarcomatous DFSP was rendered and the patient was in good status at a follow-up of 12 months after the operation. Conclusions We report a fibrosarcomatous DFSP with novel TNC-PDGFD fusion, which adds to the pathologic and genetic spectrum of PDGFD-rearranged DFSP.

scholarly journals Rare Leiomyoma of the Tunica Dartos: A Case Report with Clinical Relevance for Malignant Transformation and HLRCC

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Robert C. Bell ◽  
Evan T. Austin ◽  
Stacy J. Arnold ◽  
Frank C. Lin ◽  
Jonathan R. Walker ◽  
...  
Keyword(s):  
Malignant Transformation ◽  
Renal Cell ◽  
Cell Cancer ◽  
Surgical Excision ◽  
High Rate ◽  
Case Presentation ◽  
Increased Risk ◽  
The Right ◽  
Cutaneous Leiomyomas

Background. Genital leiomyomas fall under the broader category of cutaneous leiomyomas, which are rare smooth muscle neoplasms accounting for 5% of all leiomyomas. Genital leiomyomas arising from the dartos muscle are exceedingly rare with fewer than 30 cases reported in the literature. They are typically benign and adequately treated with simple surgical excision; however, previously reported cases of malignant transformation and a possible link to the hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome warrant closer follow-up.Case Presentation. We report a case of a 47-year-old male refugee from Rwanda found to have a mobile, pea-sized, mildly painful scrotal lesion near the left penoscrotal junction and 1.5 cm indeterminate vascular mass in the right kidney. Surgical excision of the scrotal nodule was performed and the diagnosis of a dartoic leiomyoma was rendered. The presence of moderate nuclear atypia, rare mitotic activity, and close surgical margins prompted a wide reexcision. We report the surgical approach, pathologic findings, and clinical follow-up related to this scrotal lesion.Conclusion. Scrotal leiomyomas demonstrate a high rate of recurrence and pose a risk for malignant transformation. They may also indicate an underlying autosomal dominant syndrome associated with increased risk for development of an aggressive form of renal cell carcinoma. When discovered, management should include surgical excision, screening for syndromic features, and routine follow-up.

scholarly journals Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]” NSD1 Missense Mutation and Complex Skin Hamartoma

2018 ◽  
Vol 19 (10) ◽  
pp. 3189
Author(s):  
Annalisa Mencarelli ◽  
Paolo Prontera ◽  
Amedea Mencarelli ◽  
Daniela Rogaia ◽  
Gabriela Stangoni ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Clinical Features ◽  
De Novo ◽  
Genetic Disorder ◽  
Control Cell ◽  
Functional Domain ◽  
Sotos Syndrome ◽  
Organ Systems ◽  
Increased Risk ◽  
The Right

Sotos syndrome is one of the most common overgrowth diseases and it predisposes patients to cancer, generally in childhood. The prevalence of this genetic disorder is 1:10,000–1:50,000, and it is characterized by wide allelic heterogeneity, with more than 100 different known mutations in the nuclear receptor-binding SET domain containing protein 1 (NSD1) gene. Most of these alterations are deletions and common micro-deletions with haploinsufficiency. Singular variants are missense mutations. The present study reports a case of a 4-year-old boy with specific clinical features of Sotos syndrome and a particular complex skin hamartoma on the right femoral side, in addition to other minor findings, such as a “café-au-lait” spot on the right hemithorax and syndactyly of the second and third right toes. NSD1 gene analysis identified a de novo missense mutation, “c.[5867T>A]+[=]”; “p.[Leu1956Gln]+[=]”, that was not previously described in the literature. This mutation was localized to the functional domain of the gene and was likely the cause of Sotos syndrome in our patient. We also compared aspects of our patient’s condition with the clinical features of tuberous sclerosis (TSC), which is an autosomal neurocutaneous syndrome caused by mutations in the TSC1/TSC2 genes. These genes control cell growth and cell survival. This disorder is characterized by hamartomas in multiple organ systems, several coetaneous abnormalities, epilepsy, and increased risk of several types of tumors.

scholarly journals Primary adrenal leiomyosarcoma: clinical case and literature review

2021 ◽  
Vol 15 (1) ◽  
pp. 36-42
Author(s):  
S. V. Lukyanov ◽  
K. M. Blikyan ◽  
S. S. Todorov ◽  
V. Y. Deribas ◽  
N. S. Lukyanov
Keyword(s):  
English Language ◽  
Clinical Case ◽  
Inferior Vena ◽  
Smooth Muscle Actin ◽  
Vena Cava ◽  
High Rate ◽  
Muscle Actin ◽  
Large Size ◽  
The Right ◽  
Language Literature

Adrenal leiomyosarcoma — rare mesenchymal tumor, which is diagnosed most often after it reaches a large size. Primary adrenal leiomyosarcoma is extremely rare: in the English-language literature, only 45 cases were previously reported. We report the case of a 46-year-old man with the formation of the right adrenal gland measuring 12x8x7,5 cm. The patient underwent right-sided adrenalectomy, nephrectomy, and plastic of the inferior vena cava. The phenotype was confirmed by light microscopy and immunohistochemistry. Microscopic examination of the tumor is represented by fusiform and polymorphic cells that form multidirectional bundle structures with a high rate of mitosis. Immunohistochemically, tumor cells were positive for smooth muscle actin, CD-34, CD-117.

LA ORIENTACIÓN FAMILIAR PARA LA PREVENCIÓN DEL CONSUMO DE DROGAS EN LOS ALUMNOS DEL TERCER AÑO DE BACHILLERATO

2018 ◽  
Vol 3 (5) ◽  
pp. 39
Author(s):  
Yéssica Elizabeth Barreto Macías ◽  
Colón Avellán Velásquez
Keyword(s):  
High School Students ◽  
Drug Use ◽  
Interpersonal Relationships ◽  
Negative Influence ◽  
Point Of View ◽  
Family Counseling ◽  
High Rate ◽  
School Students ◽  
Family Orientation ◽  
The Right

El actual trabajo afronta una de las problemáticas más apremiantes de los actuales momentos como es el alto índice de dispendio de drogas en las Instituciones Educativas, que afectan considerablemente a la sociedad ecuatoriana. Su objetivo es analizar los lineamientos que permitan mejorar la orientación familiar, y desarrollar relaciones interpersonales apropiadas que fomenten la unión familiar, practicar principios, fomentar valores morales, y que los jóvenes aprendan a decir “no” ante una eventual propuesta de consumir compuestos prohibidos, que lo único que se consigue es materializarse en un estado no idóneo ante la comunidad, considerar que las consecuencias para la salud son devastadoras, personas que a temprana edad padecen de enfermedades que en muchas ocasiones son gravísimas, causando malestar no solamente propio sino a la familia. Puedo mencionar como aporte de este artículo; y en base a resultados establecidos que resulta primordial e importante mantener la asistencia de un profesional especializado en psicología, diálogos científicos y motivadores, conjuntamente con atención médica provocarán en la persona afectada la erradicación del consumo de drogas. Constan muchos factores que causan gran influencia negativa en las familias, partiendo de que actualmente el mundo vive la tendencia del consumismo lo que influye en sobremanera que exista menos dialogo en el hogar, la aparición de la tecnología es otra de las situaciones adversas. Los profesionales encargados de brindar orientación familiar deben considerar siempre, que el comportamiento del ser humano debe ser comprendido desde el punto de vista de su forma de pensar, solo así se desarrollara una cultura que permita a las familias tomar las decisiones acertadas al momento de formar a sus hijos, lo que en un futuro se evidenciará como seres útiles a la sociedad. PALABRAS CLAVE: Consumo de drogas; orientación familiar; valores morales.  FAMILY COUNSELING, FOR THE PREVENTION OF DRUG USE IN THIRDYEAR HIGH SCHOOL STUDENTS  ABSTRACT  The current work addresses one of the most pressing issues of current times such as the high rate of drug use in educational institutions, which greatly affect Ecuadorian society. Its objective is to analyze the guidelines for improving family orientation, and develop appropriate interpersonal relationships that promote family unity, value the principles, and that young people learn to say "no" to a possible proposal to use prohibited drugs, that the only thing that is achieved is to materialize in an unsuitable state before the community, to consider that the consequences for health are devastating, people who at an early age suffer from diseases that in many occasions are very serious, causing discomfort not only their own but also the family. I can mention as contribution of this article; and based on established results that it is essential and important to maintain the assistance of a professional specialized in psychology, scientific and motivational dialogues, together with medical care, will cause the affected person to eradicate drug use. There are many factors that cause great negative influence on families, based on the fact that the world currently lives the trend of consumerism which greatly influences that there is less dialogue at home, the emergence of technology is another of the adverse situations. The professionals responsible for providing family counseling should always consider that the behavior of the human being should be understood from the point of view of their way of thinking, only in this way will a culture be developed that allows families to make the right decisions when forming to their children, which in the future will be evident as useful beings to society. KEYWORDS: drug use; family orientation; moral values.

scholarly journals A CBCT Based Three-Dimensional Assessment of Mandibular Posterior Region for Evaluating the Possibility of Bypassing the Inferior Alveolar Nerve While Placing Dental Implants

Diagnostics ◽  
2020 ◽  
Vol 10 (6) ◽  
pp. 406 ◽  
Author(s):  
Mohammed G. Sghaireen ◽  
Kumar Chandan Srivastava ◽  
Deepti Shrivastava ◽  
Kiran Kumar Ganji ◽  
Santosh R. Patil ◽  
...  
Keyword(s):  
Nerve Injury ◽  
Age Groups ◽  
Inferior Alveolar Nerve ◽  
Three Dimensions ◽  
High Rate ◽  
Cortical Plate ◽  
Computed Tomography Images ◽  
Group I ◽  
Linear Distance ◽  
The Right

A high rate of nerve injury and related consequences are seen during implant placement in the posterior mandibular arch. An approach has been proposed to avoid nerve injury by dodging the inferior alveolar nerve (IAN) while placing an implant. A prospective study with a total of 240 CBCT (cone beam computed tomography) images of patients with three dentate statuses, namely, edentulous (group I), partially edentulous (group II) and dentate (group III) were included in the study. The nerve path tracing was done on CBCT images with On-demand 3D software. The three dimensions, i.e., the linear distance from the outer buccal cortical plate to the inferior alveolar nerve (BCPN), linear distance from the outer lingual cortical plate to the inferior alveolar nerve (LCPN) and linear distance from the midpoint of the alveolar crest to the inferior alveolar nerve (ACN) were assessed. The data were presented and analyzed between variables using one-way ANOVA and independent t-test in SPSS version 21.LCPN of the right 1st premolar region (p < 0.05) was significantly different among the groups with edentulous subjects recorded with the minimum value (6.50 ± 1.20 mm). Females were found to have significantly (p < 0.05) less available bone (6.03 ± 1.46 mm) on the right side of the mandibular jaw compared to males in edentulous group of patients. On comparing age groups for partially edentulous subjects, LCPN of the right 1st premolar region had significantly (p < 0.05) less available bone (6.03 ± 0.38 mm) in subjects with age ≥54 years. The IAN follows a lingual course in the molar region and later flips to the buccal side in the premolar region. The LCPN dimension in the 1st and 2nd premolar region was found to be more than 6 mm irrespective of age, gender and side of the jaw. Thus, it can be considered as a suitable site for placing implants while bypassing the IAN with CBCT assessment remaining as the mainstay in the pre-surgical phase.

Oncocytic Lipoadenoma: Report of 3 Rare Cases Involving the Parotid Gland, Including a Synchronous Presentation With Paraganglioma of the Right Carotid Bifurcation and Literature Review

2021 ◽  
pp. 106689692110219
Author(s):  
John L.S. Cunha ◽  
Marco A. Peñalonzo ◽  
Ciro D. Soares ◽  
Bruno A.B. de Andrade ◽  
Mário J. Romañach ◽  
...  
Keyword(s):  
English Language ◽  
Smooth Muscle Actin ◽  
Salivary Gland Tumor ◽  
Surgical Excision ◽  
Carotid Bifurcation ◽  
Alpha Smooth Muscle Actin ◽  
S 100 ◽  
The Right ◽  
Adequate Management ◽  
Adipose Cells

Oncocytic lipoadenoma (OL) is a rare salivary gland tumor characterized by the presence of oncocytic cells and mature adipose tissue. To date, only 30 cases of OL have been reported in the English-language literature. We present 3 additional OL cases involving the parotid, including a synchronous presentation with paraganglioma of the right carotid bifurcation. Microscopically, both the OLs were composed of a mixed population of oncocytes and adipocytes in varying proportions surrounded by a thin, connective tissue fibrous capsule. Oncocytes were positive for pan-cytokeratins (CKs) AE1/AE3, epithelial membrane antigen, CK5, CK7, CK14, CK18, and CK19. Calponin, p63, alpha-smooth muscle actin, and carcinoembryonic antigen were negative. Vimentin and S-100 protein were positive only in adipose cells. Despite distinctive morphologic features, OL is often misdiagnosed, given its rarity. We hope to contribute to surgeons’ and pathologists’ awareness and knowledge regarding the existence of this tumor and provide adequate management through conservative surgical excision.

ECG-guided PICC insertion using a new silicon catheter with a conductive tip: A retrospective clinical study

2021 ◽  
pp. 112972982110025
Author(s):  
Yu-Xia Yin ◽  
Wei Gao ◽  
Sheng-Yu Feng ◽  
Deng-Xu Wang ◽  
Min Wan ◽  
...  
Keyword(s):  
Clinical Study ◽  
Daily Practice ◽  
Patient Characteristics ◽  
Mobile App ◽  
High Rate ◽  
Exit Site Infection ◽  
Increased Risk ◽  
Retrospective Clinical Study ◽  
Operation Rate ◽  
Catheter Tip

Objective: Safety and efficacy of ECG-guided PICC insertion using a new silicon catheter with a conductive tip was evaluated in daily practice. Methods: A retrospective study was conducted on 1659 patients who accepted successful tip-conductive PICC placement and clinically followed-up until the catheter removal between January 2018 and April 2019. Baseline of patient characteristics, catheter placement characteristics, date of dressing changes as well as records of catheter-related complications were extracted from a special designed mobile APP. Results: The first-attempt success (success of placing catheter tip to the ideal position by primary indwelling operation) rate of PICC placement was 99.3%. The average duration of PICC placement was 128.7 ± 39.5 days and 1535 patients (92.5%) reached the therapy end-point without any complications and removed the catheter normally. The cumulative rates of total complications were 7.5%, including exit site infection (2.5%), phlebitis (0.9%), DVT (1.0%), catheter malposition (1.1%), catheter breakage (0.1%), and liquid extravasation (1.8%). In multivariable logistic regression analyses, hyperlipidemia, diabetes mellitus, lung cancer, stomach cancer, and lymphoma were significantly associated with increased risk of complications, as the independent risk factors. Conclusions: This retrospective clinical study demonstrates that ECG-guided insertion of a new tip-conductive PICC is associated with a high rate of first-attempt success and low rate of catheter related complications.

scholarly journals Burden of major gastrointestinal bleeding among oral anticoagulant-treated non-valvular atrial fibrillation patients

2021 ◽  
Vol 14 ◽  
pp. 175628482199735
Author(s):  
Steven Deitelzweig ◽  
Allison Keshishian ◽  
Amiee Kang ◽  
Amol D. Dhamane ◽  
Xuemei Luo ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Major Bleeding ◽  
Oral Anticoagulant ◽  
Proportional Hazards ◽  
Bleeding Event ◽  
Cox Proportional Hazards ◽  
High Rate ◽  
Gi Bleeding ◽  
Increased Risk ◽  
Gi Bleed

Background: Gastrointestinal (GI) bleeding is the most common type of major bleeding associated with oral anticoagulant (OAC) treatment. Patients with major bleeding are at an increased risk of a stroke if an OAC is not reinitiated. Methods: Non-valvular atrial fibrillation (NVAF) patients initiating OACs were identified from the Centers for Medicare and Medicaid Services ( CMS) Medicare data and four US commercial claims databases. Patients who had a major GI bleeding event (hospitalization with primary diagnosis of GI bleeding) while on an OAC were selected. A control cohort of patients without a major GI bleed during OAC treatment was matched to major GI bleeding patients using propensity scores. Stroke/systemic embolism (SE), major bleeding, and mortality (in the CMS population) were examined using Cox proportional hazards models with robust sandwich estimates. Results: A total of 15,888 patients with major GI bleeding and 833,052 patients without major GI bleeding were included in the study. Within 90 days of the major GI bleed, 58% of patients discontinued the initial OAC treatment. Patients with a major GI bleed had a higher risk of stroke/SE [hazard ratio (HR): 1.57, 95% confidence interval (CI): 1.42–1.74], major bleeding (HR: 2.79, 95% CI: 2.64–2.95), and all-cause mortality (HR: 1.29, 95% CI: 1.23–1.36) than patients without a major GI bleed. Conclusion: Patients with a major GI bleed on OAC had a high rate of OAC discontinuation and significantly higher risk of stroke/SE, major bleeding, and mortality after hospital discharge than those without. Effective management strategies are needed for patients with risk factors for major GI bleeding.

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