scholarly journals PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy

Cancers ◽  
2021 ◽  
Vol 13 (13) ◽  
pp. 3120
Author(s):  
David D. Dragoo ◽  
Ahmed Taher ◽  
Vincenzo K. Wong ◽  
Ahmed Elsaiey ◽  
Nikita Consul ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Malignant Tumors ◽  
Cowden Syndrome ◽  
Benign Tumors ◽  
Imaging Findings ◽  
Pten Hamartoma Tumor Syndrome ◽  
Associated Lesions ◽  
Tumor Recognition ◽  
Integral Role ◽  
Early Tumor

PTEN hamartoma tumor syndrome/Cowden syndrome (CS) is a rare autosomal dominant syndrome containing a germline PTEN mutation that leads to the development of multisystem hamartomas and oncogenesis. Benign tumors such as Lhermitte–Duclos disease and malignant tumors involving the breast, thyroid, kidneys, and uterus are seen in CS. Radiologists have an integral role in the comanagement of CS patients. We present the associated imaging findings and imaging screening recommendations. Knowledge of the types of cancers commonly seen in CS and their imaging findings can aid in early tumor recognition during cancer screening to help ensure near-normal life spans in CS patients.

scholarly journals The Skin in Cowden Syndrome

2021 ◽  
Vol 8 ◽  
Author(s):  
Agnes Lim ◽  
Joanne Ngeow
Keyword(s):  
Targeted Therapies ◽  
Autosomal Dominant ◽  
Malignant Tumors ◽  
Skin Lesions ◽  
Cowden Syndrome ◽  
Differential Diagnoses ◽  
Phosphatase And Tensin Homolog ◽  
Autosomal Dominant Condition ◽  
Tensin Homolog ◽  
Dominant Condition

Cowden syndrome (CS) is an autosomal dominant condition caused by mutations in the phosphatase and tensin homolog (PTEN) gene, and is characterized by multiple hamartomas and a predisposition to malignant tumors. Characteristic skin lesions include trichilemmomas, acral keratosis, mucocutaneous neuromas, oral papillomas, and penile macules, and are often the first clues to the underlying diagnosis. Here, we discuss the mucocutaneous manifestations of CS, differential diagnoses of genetic causes of each cutaneous finding, genetic analyses for patients with skin manifestations, management of patients with CS, and potential new targeted therapies for CS.

Retrospective study on parotid gland tumors

ORL ro ◽  
2016 ◽  
Vol 4 (1) ◽  
pp. 22-23
Author(s):  
Ibric Cioranu ◽  
Vlad Petrescu Seceleanu ◽  
Viorel Ibric Cioranu ◽  
Andreea Smarandache ◽  
Sorin Vasilescu ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Maxillofacial Surgery ◽  
Squamous Carcinoma ◽  
Benign Tumors ◽  
Warthin Tumor ◽  
Parotid Tumors ◽  
Non Hodgkin Lymphoma ◽  
Adenoid Cystic ◽  
Modal Treatment ◽  
Surgery Department

During 2011-2012, 56 patients diagnosed with parotid tumors were admitted to the Maxillofacial Surgery Department of “Lucian Blaga” University and in Euroclinic Hospital. 72% were benign tumors and 28% malignant. All patients received surgical treatment (total or partial parotidectomy). For the malignant tumors, radiotherapy was added to the modal treatment (94% of the cases). Pleomorphic adenoma was encountered in 70% of the benign cases, followed by Warthin tumor in 15%. Adenoid cystic carcinoma was noticed in 31% of the malignant cases, mucoepidermoid carcinoma in 25% of the cases, and squamous carcinoma and non-Hodgkin lymphoma on 12.5% of the malignant cases.  

scholarly journals Multimodality imaging review of focal renal lesions

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Jonathan Lyske ◽  
Rishi Philip Mathew ◽  
Christopher Hutchinson ◽  
Vimal Patel ◽  
Gavin Low
Keyword(s):  
Malignant Tumors ◽  
Multimodality Imaging ◽  
Lymphoproliferative Disease ◽  
Benign Tumors ◽  
Main Body ◽  
Imaging Features ◽  
Focal Lesions ◽  
Renal Lesions ◽  
Positron Emission ◽  
Neoplastic Lesions

Abstract Background Focal lesions of the kidney comprise a spectrum of entities that can be broadly classified as malignant tumors, benign tumors, and non-neoplastic lesions. Malignant tumors include renal cell carcinoma subtypes, urothelial carcinoma, lymphoma, post-transplant lymphoproliferative disease, metastases to the kidney, and rare malignant lesions. Benign tumors include angiomyolipoma (fat-rich and fat-poor) and oncocytoma. Non-neoplastic lesions include infective, inflammatory, and vascular entities. Anatomical variants can also mimic focal masses. Main body of the abstract A range of imaging modalities are available to facilitate characterization; ultrasound (US), contrast-enhanced ultrasound (CEUS), computed tomography (CT), magnetic resonance (MR) imaging, and positron emission tomography (PET), each with their own strengths and limitations. Renal lesions are being detected with increasing frequency due to escalating imaging volumes. Accurate diagnosis is central to guiding clinical management and determining prognosis. Certain lesions require intervention, whereas others may be managed conservatively or deemed clinically insignificant. Challenging cases often benefit from a multimodality imaging approach combining the morphology, enhancement and metabolic features. Short conclusion Knowledge of the relevant clinical details and key imaging features is crucial for accurate characterization and differentiation of renal lesions.

scholarly journals Role of CA 19-9 in complex ovarian tumors

2016 ◽  
Author(s):  
Dhanya S. Thomas ◽  
Ajit Sebastian ◽  
Vinotha Thomas ◽  
Anitha Thomas ◽  
Rachel Chandy ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Ovarian Tumors ◽  
Benign Tumors ◽  
Ovarian Mass ◽  
Radiological Findings ◽  
Epithelial Tumors ◽  
Mucin Glycoprotein ◽  
Glycoprotein Antigen ◽  
Mucinous Tumours

Background: Cancer antigen 19-9 (CA 19-9) is a tumor-associated mucin glycoprotein antigen that may be elevated in healthy individuals as well as in patients with benign and malignant tumors. It is useful in the management of pancreatic and other gastrointestinal tumors. CA 19-9 is also elevated in benign and malignant ovarian tumors. Aim: To study the pattern of serum CA19-9 in complex ovarian tumors. Methods: The study design was descriptive, based on data collected from medical records. Patients with a complex ovarian mass, who were investigated with CA 19-9 and had undergone surgery, wereincluded in the study. The study duration was 2 years from January 2014 to December 2015. A total of 273 patients (119 - benign and 154 malignant) with complex ovarian mass and elevated CA 19-9 underwent surgery during the study period. Results: CA 19-9 was elevated in 55 patients (20%). Of these, 23 patients had benign tumors while 32 had malignant tumors.Among patients with benign tumors, 21 had dermoid, 23 had mucinous tumors and 75 had other types of tumors. CA 19-9 was elevated in 10 (47.6%) of the dermoids, 7 (30.4%) of the mucinous tumors and 6 (8%) of the other benign tumors. Among patients with malignant tumors, 138 were epithelial and 16 were non epithelial tumors. Of the epithelial tumors, 31 were mucinous and 107 were non mucinous types. Overall, 29 (21%) had elevated CA 19-9. Of the epithelial tumors, 22.6% of the mucinous type and 20.6% of the non mucinous type had elevated CA 19-9. Among the non-epithelial tumors, 3 (18.8%) had elevated CA19-9. Conclusion: CA 19-9 is elevated in several conditions but most likely to be raised in dermoid cysts and mucinous tumours. CA19-9 levels need to be interpreted along with clinical and radiological findings.

Risk of Metastatic Ovarian Involvement in Nongynecologic Malignancies

2012 ◽  
Vol 22 (1) ◽  
pp. 3-8 ◽  
Author(s):  
Kidong Kim ◽  
Soo Youn Cho ◽  
Sang-Il Park ◽  
Hye Jin Kang ◽  
Beob-Jong Kim ◽  
...  
Keyword(s):  
Overall Survival ◽  
Malignant Tumors ◽  
Rank Test ◽  
Benign Tumors ◽  
Binary Logistic Regression Analysis ◽  
Fisher Exact Test ◽  
Tumor Type ◽  
Metastatic Tumors ◽  
Number Of Patients ◽  
Adnexal Tumors

ObjectiveThe objectives were to evaluate the risk of malignant adnexal tumors in women with nongynecologic malignancies and to identify variables associated with the risk of malignant adnexal tumors.MethodsThe eligibility criteria included the diagnosis of a nongynecologic malignancy and adnexal tumors, which were resected or subjected to biopsy at our institute between 1999 and 2010. The risk of malignant adnexal tumors was assessed by dividing the number of patients with metastatic tumors to the adnexa or primary adnexal cancers by the total number of patients. The association of clinicopathologic variables with the risk of malignant adnexal tumors was evaluated using the Fisher exact test and binary logistic regression analysis. In patients with metastatic tumors to the adnexa, the association of clinicopathologic variables with overall survival after adnexal surgery was examined using the log-rank test.ResultsIn 166 patients with adnexal tumors, 41 benign tumors, 113 metastatic tumors to the adnexa, and 12 primary adnexal cancers were diagnosed. Age older than 46 years, a tumor type associated with a high risk for malignant adnexal tumors, and bilateral tumors significantly increased the risk of malignant adnexal tumors. The overall survival of the patients with stomach cancer was significantly worse than the patients with colorectal or breast cancers.ConclusionOne hundred twenty-five of the 166 patients with nongynecologic malignancies who had adnexal tumors managed surgically were shown to have malignant tumors, and most of the tumors were metastatic from primary sites. The risk of malignant adnexal tumors was associated with age, nongynecologic malignancy, and bilaterality.

scholarly journals A novel decision tree model based on chromosome imbalances in cell-free DNA and CA-125 in the differential diagnosis of ovarian cancer

2021 ◽  
pp. 172460082199235
Author(s):  
Weina Zhang ◽  
Yu-min Zhang ◽  
Yuan Gao ◽  
Shengmiao Zhang ◽  
Weixin Chu ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Differential Diagnosis ◽  
Decision Tree ◽  
Copy Number ◽  
Malignant Tumors ◽  
Copy Number Variations ◽  
Ca 125 ◽  
Benign Tumors ◽  
Cell Free Dna ◽  
Free Dna

Objective: CA-125 is widely used as biomarker of ovarian cancer. However, CA-125 suffers low accuracy. We developed a hybrid analytical model, the Ovarian Cancer Decision Tree (OCDT), employing a two-layer decision tree, which considers genetic alteration information from cell-free DNA along with CA-125 value to distinguish malignant tumors from benign tumors. Methods: We consider major copy number alterations at whole chromosome and chromosome-arm level as the main feature of our detection model. Fifty-eight patients diagnosed with malignant tumors, 66 with borderline tumors, and 10 with benign tumors were enrolled. Results: Genetic analysis revealed significant arm-level imbalances in most malignant tumors, especially in high-grade serous cancers in which 12 chromosome arms with significant aneuploidy ( P<0.01) were identified, including 7 arms with significant gains and 5 with significant losses. The area under receiver operating characteristic curve (AUC) was 0.8985 for copy number variations analysis, compared to 0.8751 of CA125. The OCDT was generated with a cancerous score (CScore) threshold of 5.18 for the first level, and a CA-125 value of 103.1 for the second level. Our most optimized OCDT model achieved an AUC of 0.975. Conclusions: The results suggested that genetic variations extracted from cfDNA can be combined with CA-125, and together improved the differential diagnosis of malignant from benign ovarian tumors. The model would aid in the pre-operative assessment of women with adnexal masses. Future clinical trials need to be conducted to further evaluate the value of CScore in clinical settings and search for the optimal threshold for malignancy detection.

TUBEROUS SCLEROSIS: PRESENTATION OF A CASE AND REVIEW OF THE LITERATURE

2021 ◽  
pp. 95-96
Author(s):  
Fabricio Andrés Lasso Andrade ◽  
Jorge Alejandro Cadena Arteaga ◽  
Ángela Maria Fajardo Arteaga ◽  
Viviana Lizeth Echeverry Morillo ◽  
David Alfredo Acevedo Vargas ◽  
...  
Keyword(s):  
Nervous System ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Causal Link ◽  
Benign Tumors ◽  
Review Of The Literature ◽  
Dominant Inheritance ◽  
Variable Expression

Tuberous Sclerosis Complex (TSC) also known as Bournneville disease. TSC is a multisystemic genetic disorder with autosomal dominant inheritance, of variable expression, which is mainly characterized by the presence of benign tumors or hamartomas in the nervous system and skin, but which may also be present in the heart, kidney, lung and other organs. The most frequent symptom is epilepsy, affecting 80-90% of patients with TSC which manifests itself in childhood between 1 to 3 years of age. We present a case of sporadic onset tuberous sclerosis with epilepsy that had a causal link with TSC after admission to the emergency room in a convulsive status.

Impaired social cognition and fine dexterity in patients with Cowden syndrome associated with germline PTEN variants

2021 ◽  
pp. jmedgenet-2021-107954
Author(s):  
Clément Desjardins ◽  
Frédéric Caux ◽  
Bertrand Degos ◽  
Djallel Benzohra ◽  
Astrid De Liège ◽  
...  
Keyword(s):  
Social Cognition ◽  
Neuropsychological Assessment ◽  
Splice Site ◽  
Autosomal Dominant ◽  
Neuropsychological Functioning ◽  
Cowden Syndrome ◽  
Increased Risk ◽  
Cerebral Mri ◽  
Dominant Disease ◽  
Brain Alteration

PurposeCowden syndrome (CS) is an autosomal dominant disease related to germline PTEN variants and is characterised by multiple hamartomas, increased risk of cancers and frequent brain alteration. Since the behaviour of patients with CS sometimes appears to be inappropriate, we analysed their neuropsychological functioning.MethodsThis monocentric study was conducted between July 2018 and February 2020. A standardised neuropsychological assessment, including an evaluation of social cognition, executive functions, language and dexterity, as well as a cerebral MRI were systematically proposed to all patients with CS. Moreover, PTEN variants were identified.ResultsFifteen patients from 13 families were included, with six non-sense (40%), three missense (20%), five frameshift (33.3%) and one splice site (6.6%) variant types. Twelve patients (80%) had altered social cognition: 10 patients had an abnormal modified Faux-Pas score and 5 had Ekman’s facial emotions recognition impairment. Nearly all patients (93%) had impaired dexterity. Cerebral MRI showed various cerebellar anomalies in seven patients (46.7%).ConclusionAltered social cognition and impaired fine dexterity are frequently associated with CS. Further studies are needed to confirm these results and to determine whether dexterity impairment is due to the effect of germline PTEN variants in the cerebellum.

scholarly journals Epidemiologic Characteristics of Salivary Gland Tumors in an Iranian Population

2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Nafise Shamloo ◽  
Alireza Ghanadan ◽  
Fahimeh Sadat Hashemian ◽  
Maedeh Ghorbanpour
Keyword(s):  
Salivary Gland ◽  
Adenoid Cystic Carcinoma ◽  
Salivary Glands ◽  
Pleomorphic Adenoma ◽  
Malignant Tumors ◽  
The Body ◽  
Salivary Gland Tumors ◽  
Benign Tumors ◽  
Cross Sectional ◽  
Adenoid Cystic

Background: Salivary gland tumors include a wide variety of benign and malignant tumors in the oral and maxillofacial region. Although these tumors are not common, they are not rare. The prevalence of these tumors varies with regard to age, gender, and their location in the body. Objectives: This study aimed to evaluate the frequency of benign and malignant salivary gland tumors in patients referred to three referral hospitals in Tehran, Iran. Methods: This retrospective cross-sectional study examined the demographic and pathologic records of the patients with salivary gland tumors submitted to the Department of Pathology of Amir Alam, Loghman Hakim, and Shohada Hospitals from 2005 to 2016. In this study, the histological variants of salivary gland tumors and clinical parameters such as age, gender, and the location of the tumor were examined. The clinical data were analyzed using SPSS software version 21. Results: Of 137632 patient records, 1180 cases were salivary gland tumors. Pleomorphic adenoma in 794 cases (67.3%) and adenoid cystic carcinoma in 109 cases (9.2%) were the most common tumors, respectively. Salivary gland tumors were more common in males, and the participants’ mean age was 42.86 ± 16.5 years. The most common site was parotid and minor salivary glands, with 937 (79.4%) and 137 (12%) cases, respectively. Conclusions: In this study, the most common benign tumor was pleomorphic adenoma in the parotid gland, and the most common malignant tumor was adenoid cystic carcinoma in the major salivary glands. Furthermore, benign tumors were more frequent than malignant tumors.

scholarly journals Histopathological study of soft tissue tumours in a tertiary health centre in southern part of Assam

2021 ◽  
Vol 9 (11) ◽  
pp. 3391
Author(s):  
Khadija S. Tapadar ◽  
Manoj K. Deka ◽  
R. N. Chaubey ◽  
Shah A. Sheikh ◽  
Gargi R. Choudhury ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Malignant Tumors ◽  
Soft Tissue Tumors ◽  
The Body ◽  
World Health ◽  
Vascular Tumors ◽  
Benign Tumors ◽  
Peripheral Nerve Sheath Tumors ◽  
Pleomorphic Sarcoma ◽  
Younger Age

Background: Soft tissue tumors are defined as mesenchymal proliferations which occur in the extraskeletal non-epithelial tissues of the body, excluding the viscera, coverings of brain and   lymphoreticular system. The objective of this study was to study the histopathological features of soft tissue tumors and to study the occurrence of soft tissue tumors in relation to age, sex and anatomical site.Methods: This study comprised of 89 cases studied over a period of two years. All soft tissue tumors, their gross features, microscopic findings were analysed in detail. Soft tissue tumors were divided into benign and malignant categories and further sub typing were done according to World Health Organization (WHO) classification. The distribution of soft tissue tumors according to the age, sex and site of occurrence was studied.Results: Out of 89 cases of soft tissue tumors, 76 cases were benign, 4 cases belonged to intermediate category and 9 cases were malignant. Adipocytic tumors formed the largest group constituting 39 cases. Vascular tumors were the second commonest (26 cases) followed by peripheral nerve sheath tumors (11 cases). The benign tumors were seen in younger age as compared to malignant tumors. Malignant soft tissue tumors was seen to be more common in male than female and pleomorphic sarcoma and liposarcoma was commonest (3 cases each).Conclusions: Benign tumors were more common than malignant. The most common benign tumors were lipoma followed by hemangioma and schwannoma. The most common malignant tumor was pleomorphic sarcoma. The benign tumors were seen in younger age as compared to malignant tumors.

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