scholarly journals Clinical and Molecular Spectrum of Liposarcoma

2018 ◽  
Vol 36 (2) ◽  
pp. 151-159 ◽  
Author(s):  
Alex Thomas John Lee ◽  
Khin Thway ◽  
Paul H. Huang ◽  
Robin Lewis Jones
Keyword(s):  
Malignant Tumors ◽  
Treatment Options ◽  
Chromosomal Translocation ◽  
Myxoid Liposarcoma ◽  
Adipocytic Differentiation ◽  
Well Differentiated ◽  
Pharmaceutical Agents ◽  
Active Investigation ◽  
Treatment Sensitivity

Liposarcomas are rare malignant tumors of adipocytic differentiation. The classification of liposarcomas into four principal subtypes reflects the distinct clinical behavior, treatment sensitivity, and underlying biology encompassed by these diseases. Increasingly, clinical management decisions and the development of investigational therapeutics are informed by an improved understanding of subtype-specific molecular pathology. Well-differentiated liposarcoma is the most common subtype and is associated with indolent behavior, local recurrence, and insensitivity to radiotherapy and chemotherapy. Dedifferentiated liposarcoma represents focal progression of well-differentiated disease into a more aggressive, metastasizing, and fatal malignancy. Both of these subtypes are characterized by recurrent amplifications within chromosome 12, resulting in the overexpression of disease-driving genes that have been the focus of therapeutic targeting. Myxoid liposarcoma is characterized by a pathognomonic chromosomal translocation that results in an oncogenic fusion protein, whereas pleomorphic liposarcoma is a karyotypically complex and especially poor-prognosis subtype that accounts for less than 10% of liposarcoma diagnoses. A range of novel pharmaceutical agents that aim to target liposarcoma-specific biology are under active investigation and offer hope of adding to the limited available treatment options for recurrent or inoperable disease.

Limited Role of TP53 and TP53-Related Genes in Myxoid Liposarcoma

1998 ◽  
Vol 84 (5) ◽  
pp. 571-577 ◽  
Author(s):  
Silvana Pilotti ◽  
Cinzia Lavarino ◽  
Alessandra Mezzelani ◽  
Gabriella Della Torre ◽  
Fabiola Minoletti ◽  
...  
Keyword(s):  
Tumor Progression ◽  
Chromosomal Translocation ◽  
Myxoid Liposarcoma ◽  
P53 Mutation ◽  
Unexpected Finding ◽  
Genetic Changes ◽  
Molecular Features ◽  
Well Differentiated ◽  
Pleomorphic Liposarcomas

Aims Circumstantial evidence suggests that genetic changes may lead to tumor progression within the myxoid liposarcoma tumors (MLTs) carrying non-random chromosomal translocation t(12;16). Methods To address this subject an immunophenotypic analysis, applying antibodies against proteins encoded by TP53, MDM2 and CDK4 genes, complemented by molecular analysis of eight suitable cases, was performed on 104 consecutive cases. Chromosomal translocations were assessed either by cytogenetic analysis or by RT-PCR in 9 suitable cases and chimeric transcripts were found in all cases but two pleomorphic liposarcomas. Results Based on immunophenotyping and tumor site, the case material consisted of three groups. The first one was made up of 92 non-retroperitoneal cases carrying a null p53, mdm2, cdk4 immunophenotype, which remained unchanged over the time of recurrences and along the gamut of histologic subtypes. The second group was represented by five p53+, mdm2-, cdk4- non-retroperitoneal cases, 4 of which were further analysed by PCR-SSCP for p53 mutation. The im-munophenotipic profile of these cases, complemented by the molecular findings, supported a role of TP53 in tumor progression in three high-grade MLTs. The third group, consisting of 7 retroperitoneal cases, showed a heterogeneous immunophenotype, sharing immunophenotypic and molecular features with the well-differentiated/evoluted (dedifferentiated) liposarcoma group. Conclusions TP53 mutations seem to play a role in tumor progression in a few cases of MLTs (2.8%) showing more aggressive histologic characteristics. The unexpected finding that a number of retroperitoneal LMTs display the immunophenotypic profile of the well differentiated/evoluted (dedifferentiated) liposarcomas, deserves further investigation.

Immunotherapy and potential predictive biomarkers in the treatment of neuroendocrine neoplasia

2020 ◽  
Author(s):  
Guanghui Xu ◽  
Yuhao Wang ◽  
Hushan Zhang ◽  
Xueke She ◽  
Jianjun Yang
Keyword(s):  
Current Knowledge ◽  
Checkpoint Inhibitors ◽  
Treatment Options ◽  
Predictive Biomarkers ◽  
The Body ◽  
Low Grade ◽  
Ablative Therapies ◽  
Cancer Types ◽  
New Treatment ◽  
Well Differentiated

Neuroendocrine neoplasias (NENs) are a heterogeneous group of rare tumors scattered throughout the body. Surgery, locoregional or ablative therapies as well as maintenance treatments are applied in well-differentiated, low-grade NENs, whereas cytotoxic chemotherapy is usually applied in high-grade neuroendocrine carcinomas. However, treatment options for patients with advanced or metastatic NENs are limited. Immunotherapy has provided new treatment approaches for many cancer types, including neuroendocrine tumors, but predictive biomarkers of immune checkpoint inhibitors (ICIs) in the treatment of NENs have not been fully reported. By reviewing the literature and international congress abstracts, we summarize the current knowledge of ICIs, potential predicative biomarkers in the treatment of NENs, implications and efficacy of ICIs as well as biomarkers for NENs of gastroenteropancreatic system, lung NENs and Merkel cell carcinoma in clinical practice.

scholarly journals Rheumatic Immune-Related Adverse Events—A Consequence of Immune Checkpoint Inhibitor Therapy

Biology ◽  
2021 ◽  
Vol 10 (6) ◽  
pp. 561
Author(s):  
Anca Bobircă ◽  
Florin Bobircă ◽  
Ioan Ancuta ◽  
Alesandra Florescu ◽  
Vlad Pădureanu ◽  
...  
Keyword(s):  
Immune System ◽  
Adverse Events ◽  
Immune Checkpoint ◽  
Multidisciplinary Approach ◽  
Malignant Tumors ◽  
Checkpoint Inhibitors ◽  
Treatment Options ◽  
Cancer Cell Growth ◽  
Inhibitory Mechanisms ◽  
Checkpoint Inhibitor Therapy

The advent of immunotherapy has changed the management and therapeutic methods for a variety of malignant tumors in the last decade. Unlike traditional cytotoxic chemotherapy, which works by interfering with cancer cell growth via various pathways and stages of the cell cycle, cancer immunotherapy uses the immune system to reduce malignant cells’ ability to escape the immune system and combat cell proliferation. The widespread use of immune checkpoint inhibitors (ICIs) over the past 10 years has presented valuable information on the profiles of toxic adverse effects. The attenuation of T-lymphocyte inhibitory mechanisms by ICIs results in immune system hyperactivation, which, as expected, is associated with various adverse events defined by inflammation. These adverse events, known as immune-related adverse events (ir-AEs), may affect any type of tissue throughout the human body, which includes the digestive tract, endocrine glands, liver and skin, with reports of cardiovascular, pulmonary and rheumatic ir-AEs as well. The adverse events that arise from ICI therapy are both novel and unique compared to those of the conventional treatment options. Thus, they require a multidisciplinary approach and continuous updates on the diagnostic approach and management.

scholarly journals Synchronous intrathyroidal parathyroid carcinoma and thyroid carcinoma: case report and review of the literature

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nadia De Falco ◽  
Giuseppe Santangelo ◽  
Fabrizio Chirico ◽  
Angelo Cangiano ◽  
Maria Giulia Sommella ◽  
...  
Keyword(s):  
Literature Review ◽  
Thyroid Carcinoma ◽  
Papillary Carcinoma ◽  
Parathyroid Carcinoma ◽  
Malignant Tumors ◽  
Gamma Probe ◽  
Differentiated Thyroid Carcinoma ◽  
Thyroid Carcinomas ◽  
First Case ◽  
Well Differentiated

Abstract Background Parathyroid carcinoma is a rare endocrine malignancy, rarer when synchronous with a non medullary well differentiated thyroid carcinoma. Parathyroid carcinoma accounts of 0.005% of all malignant tumors and it is responsible for less than 1% of primary hyperparathyroidism. The intrathyroidal localization of a parathyroid gland is not frequent with a reported prevalence of 0.2%. Carcinoma of parathyroids with intrathyroidal localization represents an even rarer finding, reported in only 16 cases described in literature. The rare constellation of synchronous parathyroid and thyroid carcinomas has prompted us to report our experience and perform literature review. Case presentation We herein report a case of a 63-years-old man with multinodular goiter and biochemical diagnosis of hyperparathyroidism. Total thyroidectomy with radio-guide technique using gamma probe after intraoperative sesta-MIBI administration and intraoperative PTH level was performed. The high radiation levels in the posterior thyroid lobe discovered an intrathyroidal parathyroid. Microscopic examination revealed a parathyroid main cell carcinoma at the posterior thyroidal left basal lobe, a classic papillary carcinoma at the same lobe and follicular variant of papillary carcinoma at the thyroidal right lobe. To the best of our knowledge, this is the first case documenting a synchronous multicentric non medullary thyroid carcinomas and intrathyroidal parathyroid carcinoma. Conclusions Our experience was reported and literature review underlining challenging difficulties in diagnostic workup and surgical management was carried out.

scholarly journals Beneficial Actions of Orostachys japonica and Its Compounds against Tumors via MAPK Signaling Pathways

Nutrients ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 555
Author(s):  
Soyoung Hur ◽  
Eungyeong Jang ◽  
Jang-Hoon Lee
Keyword(s):  
Molecular Mechanisms ◽  
Epithelial To Mesenchymal Transition ◽  
Malignant Tumors ◽  
Treatment Options ◽  
Underlying Mechanism ◽  
Mapk Signaling ◽  
Mitogen Activated Protein Kinase ◽  
Antitumor Effects ◽  
Mesenchymal Transition ◽  
Perennial Plant

Tumors are one of the most life-threatening diseases, and a variety of cancer treatment options have been continuously introduced in order to overcome cancer and improve conventional therapy. Orostachys japonica (O. japonica), which is a perennial plant belonging to the genus Orostachys of the Crassulaceae family, has been revealed to exhibit pharmacological properties against various tumors in numerous studies. The present review aimed to discuss the biological actions and underlying molecular mechanisms of O. japonica and its representative compounds—kaempferol and quercetin—against tumors. O. japonica reportedly has antiproliferative, anti-angiogenic, and antimetastatic activities against various types of malignant tumors through the induction of apoptosis and cell cycle arrest, a blockade of downstream vascular endothelial growth factor (VEGF)-VEGFR2 pathways, and the regulation of epithelial-to-mesenchymal transition. In addition, emerging studies have highlighted the antitumor efficacy of kaempferol and quercetin. Interestingly, it was found that alterations of the mitogen-activated protein kinase (MAPK) signaling cascades are involved in the pivotal mechanisms of the antitumor effects of O. japonica and its two compounds against cancer cell overgrowth, angiogenesis, and metastasis. In summary, O. japonica could be considered a preventive and therapeutic medicinal plant which exhibits antitumor actions by reversing altered patterns of MAPK cascades, and kaempferol and quercetin might be potential components that can contribute to the efficacy and underlying mechanism of O. japonica.

scholarly journals Mixed adenoneuroendocrine carcinoma of the hepatic bile duct: a case report and review of the literature

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Sulai Liu ◽  
Zhendong Zhong ◽  
Meng Xiao ◽  
Yinghui Song ◽  
Youye Zhu ◽  
...  
Keyword(s):  
Bile Duct ◽  
Neuroendocrine Tumors ◽  
Radical Surgery ◽  
Malignant Tumors ◽  
World Health ◽  
Ki 67 ◽  
Mixed Adenoneuroendocrine Carcinoma ◽  
Hilar Bile Duct ◽  
Hilar Tumor

Abstract Background The World Health Organization's updated classification of digestive system neuroendocrine tumors in 2010 first proposed the classification of mixed adenoneuroendocrine carcinoma (MANEC). The incidence of biliary malignant tumors with neuroendocrine tumors accounts for less than 1% of all neuroendocrine tumors. Moreover, the incidence of hilar bile duct with MANEC is very rare. Case presentation A 65-year-old female patient came to our hospital for repeated abdominal pain for more than 4 months and skin sclera yellow staining for 1 week. Contrast-enhanced computed tomography imaging and magnetic resonance results suggested a hilar tumor for Bismuth-Corlette Type II. The patient underwent radical surgery for hilar cholangiocarcinoma. Finally, the patient was diagnosed with hilar bile duct MANEC, staged 1 (pT1N0M0) based on the eighth edition of the AJCC. Histopathology showed that the tumor was a biliary tumor with both adenocarcinoma and neuroendocrine carcinoma. No evidence of recurrence and metastasis after 20 months of follow-up. Conclusions We first reported a MANEC that originated in the hilar bile duct. As far as we known, there were few reports of biliary MANEC, and the overall prognosis was poor. We also found that the higher the Ki-67 index, the worse the prognosis of this type of patient. Radical surgery is the most effective treatment.

Translocations and Amplifications of Chromosome 12 in Liposarcoma Demonstrated by the LSI CHOP Breakapart Rearrangement Probe

2008 ◽  
Vol 132 (6) ◽  
pp. 952-957
Author(s):  
Carlynn Willmore-Payne ◽  
Joseph Holden ◽  
Kristi C. Turner ◽  
Alan Proia ◽  
Lester J. Layfield
Keyword(s):  
Signal Amplification ◽  
Myxoid Liposarcoma ◽  
Chromosome 12 ◽  
Round Cell ◽  
High Background ◽  
Molecular Abnormalities ◽  
Not Otherwise Specified ◽  
Myxoid Liposarcomas ◽  
Well Differentiated ◽  
Atypical Lipomatous Tumors

Abstract Context.—Liposarcomas display a number of molecular abnormalities involving chromosome 12. Myxoid and round cell liposarcomas are characterized by t(12;16)(q13; p11) or t(12;22)(q13;q12) translocations. Amplifications occur within the 12q13-15 region of atypical lipomatous tumors and well-differentiated liposarcomas but not lipomas. Objective.—To investigate the performance characteristics of the LSI CHOP Breakapart Rearrangement Probe for the diagnosis of myxoid/round cell liposarcomas and atypical lipomas/well-differentiated liposarcomas. Design.—We investigated a series of lipomatous neoplasms (5 lipomas, 5 well-differentiated liposarcomas, 22 myxoid/round cell liposarcomas, 2 liposarcomas not otherwise specified, and 2 dedifferentiated liposarcomas) and normal myometrium for abnormalities in the q13-15 region of chromosome 12. Cases were studied for the presence or absence of t(12;16)(q13;p11) or t(12;22)(q13;q12) translocations by the LSI CHOP Breakapart Rearrangement Probe. These probes contain a sequence encompassing the SAS and CDK4 genes. Four or more copies of this sequence were considered to represent amplification of these genes. Results.—Rearrangement of the CHOP gene was seen in all evaluable myxoid liposarcomas. Rearrangements were seen in 1 dedifferentiated liposarcoma but not in normal myometrium or lipomas. Probe signal amplification was seen in all 5 well-differentiated liposarcomas and 1 myxoid liposarcoma. No signal amplification was seen in lipomas or myometrium. Conclusions.—Demonstration of translocations t(12; 16)(q13;p11) and t(12;22)(q13;q12) by the LSI CHOP Breakapart Rearrangement Probe appears to correlate with round cell/myxoid liposarcoma. The probe also demonstrated amplification of the 12q13-15 region in well-differentiated liposarcomas, making it useful for the diagnosis of these neoplasms. In a significant percentage of cases, high background fluorescence or poor probe staining made interpretation difficult.

scholarly journals Myxoid liposarcoma of small bowel presenting with intussusception and obstruction: A case report

2022 ◽  
pp. 519-521
Author(s):  
Mohd Monis ◽  
Divyashree Koppal ◽  
Aiman Ibbrahim ◽  
Zeeshan Nahid
Keyword(s):  
Small Bowel ◽  
Intestinal Obstruction ◽  
Leading Edge ◽  
Surgical Excision ◽  
Myxoid Liposarcoma ◽  
Histopathological Analysis ◽  
Contrast Enhanced ◽  
Well Differentiated ◽  
Enhanced Computed Tomography

Gastrointestinal liposarcomas are extremely rare with the most common reported morphological subtype being dedifferentiated liposarcoma and well-differentiated liposarcoma. These tumors are rarely diagnosed preoperatively and diagnosis is only confirmed on histopathological analysis. Treatment of gastrointestinal liposarcomas consists of surgical excision with widely negative margins followed by post-operative irradiation and close follow-up. We report an exceedingly rare case of myxoid liposarcoma of the small bowel (ileum) presenting with an unusual presentation with intussusception and intestinal obstruction. A 42-year-old male presented to the emergency department with features of intestinal obstruction. Contrast-enhanced computed tomography abdomen revealed ileo-ileal intussusception with an endoluminal soft-tissue lesion at the leading edge. The patient was taken for surgical intervention and the involved segment of the bowel along with the lesion was resected and re-anastomosis done. Histological sections of the mass along with immunohistochemistry suggested the pathological diagnosis of myxoid liposarcoma.

scholarly journals Advances in the Etiology, Detection, and Clinical Management of Seborrheic Keratoses

Dermatology ◽  
2021 ◽  
pp. 1-13
Author(s):  
Mary D. Sun ◽  
Allan C. Halpern
Keyword(s):  
Therapeutic Potential ◽  
Malignant Tumors ◽  
Treatment Options ◽  
Current Treatment ◽  
Diagnostic Methods ◽  
Treatment Standards ◽  
Oncogenic Mutations ◽  
Malignant State ◽  
Underlying Mechanisms ◽  
Seborrheic Keratoses

Seborrheic keratoses (SKs) are ubiquitous, generally benign skin tumors that exhibit high clinical variability. While age is a known risk factor, the precise roles of UV exposure and immune abnormalities are currently unclear. The underlying mechanisms of this benign disorder are paradoxically driven by oncogenic mutations and may have profound implications for our understanding of the malignant state. Advances in molecular pathogenesis suggest that inhibition of Akt and APP, as well as existing treatments for skin cancer, may have therapeutic potential in SK. Dermoscopic criteria have also become increasingly important to the accurate detection of SK, and other noninvasive diagnostic methods, such as reflectance confocal microscopy and optical coherence tomography, are rapidly developing. Given their ability to mimic malignant tumors, SK cases are often used to train artificial intelligence-based algorithms in the computerized detection of skin disease. These technologies are becoming increasingly accurate and have the potential to significantly augment clinical practice. Current treatment options for SK cause discomfort and can lead to adverse post-treatment effects, especially in skin of color. In light of the discontinuation of ESKATA in late 2019, promising alternatives, such as nitric-zinc and trichloroacetic acid topicals, should be further developed. There is also a need for larger, head-to-head trials of emerging laser therapies to ensure that future treatment standards address diverse patient needs.

scholarly journals GRANULOMATOUS MASTITIS IS NOT ALWAYS TUBERCULAR: ROLE OF FINE NEEDLE ASPIRATION CYTOLOGY IN EVALUATION OF GRANULOMATOUS MASTITIS

2019 ◽  
Vol 3 (12) ◽  
Author(s):  
Ridhima Auplish ◽  
Sneha Singh ◽  
Prem Singh ◽  
Shiv Pankaj Khanna ◽  
Aditi Gupta
Keyword(s):  
Malignant Tumors ◽  
Treatment Options ◽  
Mantoux Test ◽  
Granulomatous Mastitis ◽  
Diagnostic Dilemma ◽  
Idiopathic Granulomatous Mastitis ◽  
Caseous Necrosis ◽  
Study Results ◽  
Granulomatous Lesions ◽  
Tb Pcr

INTRODUCTION AND OBJECTIVES: Granulomatous mastitis is rare chronic inflammatory benign breast lesion, which clinically and radiologically resembles carcinoma breast thus creating a diagnostic dilemma. The term granulomatous mastitis includes two broad categories namely specific granulomatous mastitis for which aetiological factors can be defined such as infectious causes like Mycobacterium tuberculosis, blastomycosis, cryptococcosis, histoplasmosis, actinomycosis and filarial infection. Other factors include association with autoimmunue diseases such as Wegner’s  granulomatosis and giant cell arteritis and there are other rare causes such as include duct ectasia, foreign body reaction and fat necrosis which also leads to granulomatous lesions of breast. Cytological features of granulomatous mastitis(GM) have not been widely discussed and described in literature, so through this study we have made an attempt to thoroughly discuss cytological spectrum of granulomatous mastitis. MATERIALS AND METHODS: A retrospective study was performed over a period of four years from 2016 to 2019. A total of 465 cases of breast lump reported to cytopathology section out of which 24 cases of GM diagnosed on FNAC were included in our study. Results of Erythrocyte sedimentation rate (ESR) and Mantoux test along with TB-PCR were recorded. FNAC slides were retrieved pertaining to study period. Granulomatous lesions of breast were further categorized broadly into IGM/ NGM, granulomatous mastitis without caseous necrosis and tubercular mastitis where diagnosis were made definite on basis of demonstration of AFB or positive TB-PCR . RESULTS: Patient age ranged from 23 years to 55 years with the mean age of 36.6 years with maximum of patients falling in second decade followed by third decade. Granulomatous lesions were broadly categorized into Idiopathic/ Non specific granulomatous mastitis(11 cases,45.8%), GM with caseous necrosis(8 cases, 33.3%) and tubercular mastitis(5 cases, 20.9%). Histopathology was available in 7 cases(29.2%). TB-PCR was sent in all cases of granulomatous mastitis diagnosed on cytology and was positive in 10 cases(41.7%). CONCLUSION: Idiopathic granulomatous mastitis and tubercular mastitis are rare inflammatory diseases of breast which mimic malignancy clinically and radiologically. FNAC plays important role in diagnosis of granulomatous diseases of breast and also their differentiation from malignant tumors. Tubercular mastitis needs to be differentiated from IGM since treatment options are different in both the cases. Cytopathology plays an important role in differentiationg both the diseases supplemented by radiological and microbiological investigations.  The present study thus highlights the importance of FNAC as an infalliable tool in diagnosis of granulomatous mastitis and its differentiation from neoplastic lesions of breast thus avoiding time consuming histopathological work up of cases.

Sign in / Sign up

Export Citation Format

Share Document