scholarly journals Inflammatory Myofibroblastic Tumour of an Unusual Presentation in the Uterine Cervix: A Case Report

2021 ◽  
Author(s):  
Alfonso López de Sa ◽  
Alejandro Pascual ◽  
Javier García Santos ◽  
Ramiro Mendez ◽  
Monica Bellon ◽  
...  
Keyword(s):  
Metastatic Disease ◽  
Kinase Inhibitor ◽  
Locally Advanced ◽  
Female Genital Tract ◽  
Clinical Manifestations ◽  
Unknown Etiology ◽  
Inflammatory Myofibroblastic Tumour ◽  
Pathological Study ◽  
Surgical Specimen ◽  
Almost All

Abstract Background: Inflammatory myofibroblastic tumour is an infrequent mesenchymal neoplasia of unknown etiology and variable behavior, ranging from rather benign lesions to locally aggressive and even metastatic disease. Its presence has been described in almost all organs; however, its location in the female genital tract has rarely been reported.Case presentation: We present the case of a 47-year-old female, who was studied in our institution for a recent medical history of several weeks of dyspareunia and abdominal pain. She underwent pertinent studies including ultrasonography and CT scan. Under suspicion of degenerated leiomyoma, a total hysterectomy was performed. Unexpectedly, the pathological study of the surgical specimen showed an inflammatory myofibroblastic tumour of the cervix.Conclusions: Inflammatory myofibroblastic tumour remains a rare entity yet to be fully elucidated. The diagnosis is based on pathological study due to the lack of typical clinical manifestations and typical radiological images. Surgical resection is the most frequent treatment, whereas chemotherapy and radiotherapy are restricted to locally advanced or metastatic disease. Tirosine kinase inhibitor Crizotinib has shown promising results specially in tumours harbouring ALK mutation.

scholarly journals Inflammatory myofibroblastic tumour of an unusual presentation in the uterine cervix: a case report

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Alfonso López de Sa ◽  
Alejandro Pascual ◽  
Javier Garcia Santos ◽  
Ramiro Mendez ◽  
Monica Bellon ◽  
...  
Keyword(s):  
Ct Scan ◽  
Metastatic Disease ◽  
Kinase Inhibitor ◽  
Locally Advanced ◽  
Female Genital Tract ◽  
Clinical Manifestations ◽  
Inflammatory Myofibroblastic Tumour ◽  
Pathological Study ◽  
Surgical Specimen ◽  
Almost All

Abstract Background Inflammatory myofibroblastic tumour is an infrequent mesenchymal neoplasia of unknown aetiology and variable behaviour, ranging from rather benign lesions to locally aggressive and even metastatic disease. Its presence has been described in almost all organs; however, its location in the female genital tract has rarely been reported. Case presentation We present the case of a 47-year-old female, who was studied in our institution for a recent medical history of several weeks of dyspareunia and abdominal pain. She underwent pertinent studies including ultrasonography and CT scan. Under suspicion of degenerated leiomyoma, a total hysterectomy was performed. Unexpectedly, the pathological study of the surgical specimen showed very few tumour cells with focal fusiform morphology surrounded by an abundant inflammatory infiltrate; a thorough immunohistochemistry study lead to myofibroblastic tumour of the cervix diagnosis. A PET-CT scan did not show metastatic disease. The patient did not undergo any adjuvant treatment, and she is currently on surveillance with no evidence of disease relapse. Conclusions Inflammatory myofibroblastic tumour remains a rare entity yet to be fully elucidated. The diagnosis is based on pathological study due to the lack of typical clinical manifestations and typical radiological images. Surgical resection is the most frequent treatment, whereas chemotherapy and radiotherapy are restricted to locally advanced or metastatic disease. Tirosine kinase inhibitor crizotinib has shown promising results especially in tumours harbouring ALK mutation.

Retrospective review of clear cell and non-clear cell renal carcinomas: Characteristics and course in the pre-TKI (tyrosine kinase inhibitor) and post-TKI era.

2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e16052-e16052 ◽  
Author(s):  
Kanika Gupta ◽  
Amanda Nizam ◽  
Kristen Millado ◽  
Jiaqi Liu ◽  
Hiwot Guebre-Xabiher ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Overall Survival ◽  
Cell Carcinoma ◽  
Metastatic Disease ◽  
Renal Cell ◽  
Kinase Inhibitor ◽  
Clear Cell ◽  
Locally Advanced ◽  
Local Treatment ◽  
Cancer Center

e16052 Background: Renal cell carcinoma (RCC) confers a lifetime risk of 1.6% of developing cancers. Early, localized cancers have high cure rates after surgical treatment, but locally advanced/distant metastatic disease remains a devastating disease. The use of TKIs has been considered a mainstay of treatment for clear cell pathology, but other histologic subtypes such as papillary, chromophobe, and mixed subtypes, which is considered non-clear cell RCC, also make up a heterogeneous pattern and course of disease. This retrospective study characterizes renal cell carcinomas and their treatments. Methods: A retrospective chart review of the last 15 years was performed using data from a single-institution center at the George Washington University Cancer Center Tumor Registry Data. Statistical analysis was performed using the Fisher’s test, Chi-squared test, T-test, and Kaplan-Meier survival curves. Results: 1043 patients with RCC were identified. Preliminary data analysis was performed on 92 of these patients. 48 had pure clear cell renal cell carcinoma (CCRCC) and 44 had non-clear cell carcinoma (NCC). Mean age of diagnosis was similar for both groups (58.25 years for CCRCC vs 62.14 years for NCC, p = 0.0977). However, hemoglobin levels at diagnosis were statistically significantly lower for CCRCC (p = 0.0261), as were calcium levels (p = 0.0187). All patients underwent surgical or local treatment. Only 2 patients received chemotherapy and 5 patients received molecularly targeted therapy. While not statistically significant, patients with CCRCC had surgery sooner after diagnosis than NCC (71 days vs 92 days), had longer time to metastatic disease (1033 days vs 820 days), and improved overall survival (1955 days vs 1446 days). Conclusions: NCC was a less favorable pathology than CCRCC with apparent later institution of surgical intervention as well as shorter time to metastatic disease and worse overall survival. Identifying patients with more aggressive disease earlier allows for the potential role for more aggressive therapies that may result in improved outcomes.

scholarly journals Gastrointestinal Stromal Tumors (GIST)—Paving the Way for Modern Oncology—Epidemiology, Diagnosis, Treatment

2015 ◽  
Vol 11 (1) ◽  
pp. 57
Author(s):  
Elena Tsvetkova ◽  
E Celia Marginean ◽  
Carolyn Nessim ◽  
Shailendra Verma ◽  
◽  
...  
Keyword(s):  
Metastatic Disease ◽  
Gastrointestinal Stromal Tumors ◽  
Kinase Inhibitor ◽  
Locally Advanced ◽  
Neoadjuvant Treatment ◽  
Line Treatment ◽  
Borderline Resectable ◽  
Secondary Resistance ◽  
Stromal Tumors ◽  
Unresectable Disease

Gastrointestinal stromal tumors (GIST) are relatively rare tumors arising in the gastrointestinal tract. Clinical presentations of GIST are related to the site of origin, tumor size, and presence of ulceration. Surgery followed by adjuvant treatment with the BCR-ABL tyrosine kinase inhibitor, imatinib, for 3 years, in high-risk tumors is the only curative modality. Neoadjuvant treatment with imatinib may be considered in the setting of locally advanced primary borderline resectable/unresectable disease. Treatment with imatinib in patients with metastatic or unresectable disease is associated with significant improvements in overall survival (OS) from 18 to 57 months. In patients with metastatic disease, those responding to imatinib therapy may be considered for surgery and this may be beneficial if resection of the primary and metastatic disease is feasible and if imatinib is continued post resection. Other locoregional treatments such as radiofrequency ablation (RFA) and hepatic artery embolization (HAE) with or without chemotherapy may achieve long-lasting disease control and may be considered in highly selected patients. In patients with primary or secondary resistance to imatinib, second-line treatment with sunitinib and third-line treatment with regorafenib is recommended. However, despite all of these advances, few patients with metastatic disease are cured and further trials of novel agents or combinations are required.

scholarly journals Gastrointestinal Stromal Tumors (GIST)—Paving the Way for Modern Oncology—Epidemiology, Diagnosis, Treatment

2015 ◽  
Vol 11 (01) ◽  
pp. 74
Author(s):  
Elena Tsvetkova ◽  
E Celia Marginean ◽  
Carolyn Nessim ◽  
Shailendra Verma ◽  
◽  
...  
Keyword(s):  
Metastatic Disease ◽  
Gastrointestinal Stromal Tumors ◽  
Kinase Inhibitor ◽  
Locally Advanced ◽  
Neoadjuvant Treatment ◽  
Line Treatment ◽  
Borderline Resectable ◽  
Secondary Resistance ◽  
Stromal Tumors ◽  
Unresectable Disease

Gastrointestinal stromal tumors (GIST) are relatively rare tumors arising in the gastrointestinal tract. Clinical presentations of GIST are related to the site of origin, tumor size, and presence of ulceration. Surgery followed by adjuvant treatment with the BCR-ABL tyrosine kinase inhibitor, imatinib, for 3 years, in high-risk tumors is the only curative modality. Neoadjuvant treatment with imatinib may be considered in the setting of locally advanced primary borderline resectable/unresectable disease. Treatment with imatinib in patients with metastatic or unresectable disease is associated with significant improvements in overall survival (OS) from 18 to 57 months. In patients with metastatic disease, those responding to imatinib therapy may be considered for surgery and this may be beneficial if resection of the primary and metastatic disease is feasible and if imatinib is continued post resection. Other locoregional treatments such as radiofrequency ablation (RFA) and hepatic artery embolization (HAE) with or without chemotherapy may achieve long-lasting disease control and may be considered in highly selected patients. In patients with primary or secondary resistance to imatinib, second-line treatment with sunitinib and third-line treatment with regorafenib is recommended. However, despite all of these advances, few patients with metastatic disease are cured and further trials of novel agents or combinations are required.

COVID 19: REALS AND CHALLENGES AGAINST DOCTORS

2020 ◽  
Vol 2 (1) ◽  
pp. 65-87
Author(s):  
Zen Ahmad
Keyword(s):  
Virus Disease ◽  
Clinical Manifestations ◽  
World Health ◽  
Unknown Etiology ◽  
Wuhan City ◽  
Traditional Markets ◽  
Pneumonia Case ◽  
The World ◽  
New Type ◽  
Health Organization

Corona Virus Disease (Covid-19) is a contagious disease caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) which was discovered in December 2019 in China. This disease can cause clinical manifestations in the airway, lung and systemic. The World Health Organization (WHO) representative of China reported a pneumonia case with unknown etiology in Wuhan City, Hubei Province, China on December 31, 2019. The cause was identified as a new type of coronavirus on January 7, 2020 with an estimated source of the virus from traditional markets (seafood market). ) Wuhan city

scholarly journals New Targeted Therapies and Immunotherapies for Locally Advanced Periocular Malignant Tumours: Towards a New ‘Eye-Sparing’ Paradigm?

Cancers ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 2822
Author(s):  
Arnaud Martel ◽  
Sandra Lassalle ◽  
Alexandra Picard-Gauci ◽  
Lauris Gastaud ◽  
Henri Montaudie ◽  
...  
Keyword(s):  
Targeted Therapies ◽  
Paradigm Shift ◽  
Adjuvant Radiotherapy ◽  
Locally Advanced ◽  
Second Step ◽  
Malignant Tumours ◽  
New Paradigm ◽  
Eye Pain ◽  
Almost All ◽  
Orbital Lesions

The management of periocular skin malignant tumours is challenging. Surgery remains the mainstay of treatment for localised eyelid cancers. For more locally advanced cancers, especially those invading the orbit, orbital exenteration has long been considered the gold standard; however, it is a highly disfiguring and traumatic surgery. The last two decades have been marked by the emergence of a new paradigm shift towards the use of ‘eye-sparing’ strategies. In the early 2000s, the first step consisted of performing wide conservative eyelid and orbital excisions. Multiple flaps and grafts were needed, as well as adjuvant radiotherapy in selected cases. Although being incredibly attractive, several limitations such as the inability to treat the more posteriorly located orbital lesions, as well as unbearable diplopia, eye pain and even secondary eye loss were identified. Therefore, surgeons should distinguish ‘eye-sparing’ from ‘sight-sparing’ strategies. The second step emerged over the last decade and was based on the development of targeted therapies and immunotherapies. Their advantages include their potential ability to treat almost all tumours, regardless of their locations, without performing complex surgeries. However, several limitations have been reported, including their side effects, the appearance of primary or secondary resistances, their price and the lack of consensus on treatment regimen and exact duration. The aim of this article was to review the evolution of the management of locally advanced periocular malignant tumours over the last three decades and highlight the new paradigm shift towards the use of ‘eye-sparing’ strategies.

scholarly journals Animal Models of Autosomal Recessive Parkinsonism

Biomedicines ◽  
2021 ◽  
Vol 9 (7) ◽  
pp. 812
Author(s):  
Guendalina Bastioli ◽  
Maria Regoni ◽  
Federico Cazzaniga ◽  
Chiara Maria Giulia De Luca ◽  
Edoardo Bistaffa ◽  
...  
Keyword(s):  
Animal Models ◽  
Sleep Disturbances ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Cognitive Disorders ◽  
Dopamine Neurons ◽  
Substantia Nigra Pars Compacta ◽  
Current Status ◽  
Unknown Etiology ◽  
Neuron Death

Parkinson’s disease (PD) is the most common neurodegenerative movement disorder. The neuropathological hallmark of the disease is the loss of dopamine neurons of the substantia nigra pars compacta. The clinical manifestations of PD are bradykinesia, rigidity, resting tremors and postural instability. PD patients often display non-motor symptoms such as depression, anxiety, weakness, sleep disturbances and cognitive disorders. Although, in 90% of cases, PD has a sporadic onset of unknown etiology, highly penetrant rare genetic mutations in many genes have been linked with typical familial PD. Understanding the mechanisms behind the DA neuron death in these Mendelian forms may help to illuminate the pathogenesis of DA neuron degeneration in the more common forms of PD. A key step in the identification of the molecular pathways underlying DA neuron death, and in the development of therapeutic strategies, is the creation and characterization of animal models that faithfully recapitulate the human disease. In this review, we outline the current status of PD modeling using mouse, rat and non-mammalian models, focusing on animal models for autosomal recessive PD.

scholarly journals POS0083 USEFUL EXPERIENCE OF RHEUMATOLOGISTS FOR UNDERSTANDING OF THE DISEASE ORIGIN AND APPROACHES TO THERAPY IN FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 249.2-250
Author(s):  
I. Nikishina ◽  
S. Arsenyeva ◽  
V. Matkava ◽  
A. Arefieva ◽  
M. Kaleda ◽  
...  
Keyword(s):  
Heterotopic Ossification ◽  
Kinase Inhibitor ◽  
Inflammatory Diseases ◽  
Clinical Manifestations ◽  
Fibrodysplasia Ossificans Progressiva ◽  
Rapid Progression ◽  
Time Duration ◽  
Long Term Follow Up ◽  
Vertebral Bodies ◽  
The One

Background:Many monogenic genetic conditions, such as auto-inflammatory diseases (AIDs), have similar clinical manifestations and immunopathogenesis to “classic” rheumatic diseases (RD). Such cases may include Fibrodysplasia ossificans progressiva (FOP), an extremely rare genetic disease, which, according to our previous study and data from other authors1, may represent an example of AID with catastrophic heterotopic ossification due to a mutation in the ACVR1 gene. it seems that the experience of rheumatologists, especially children’s ones, will be useful in the treatment of FOP.Objectives:To analyzed the dynamics of clinical manifestations and to therapy approaches including target anti-inflammatory drug Tofacitinib (TOFA) in the one of the world’s largest groups of patients (pts) with FOP.Methods:The study was based on the analysis retrospective and prospective observation of the 35 pts (17 males and 18 females) with a verified diagnosis of FOP for the period from 1998 to 2020. In 9 pts with severe course of FOP TOFA administration were evaluated.Results:In all 35 pts the diagnosis was verified by “classic” FOP phenotype: malformed great toes in 33 pts (94,3%); short malformed thumbs-8 (22.8%); peripheral osteochondromas-20 (57.1%); abnormalities of the cervical spine-32 (91.4%), multiple heterotopic ossifications-32 (91,4%). Genetic tests were done in 26, it confirmed mutation in the ACVR1 gene in 100%. Long term follow-up detected a lot of spondyloarthritis-like signs similar to the manifestation of RD: ankylosis of the facet joints and vertebral bodies (by the type of syndesmophytes) in most pts, sacroiliitis, confirmed by radiological methods (X-ray, CT, MRI), gradual ankylosis in the peripheral joints in 18 (56.4%), synovitis in large joints in 8 (25%) pts (knee and hip mostly). In 9 pts with the most difficult course with rapid progression of ossification due to continuous flares despite the NSAIDs and steroids intake, we tried to use TOFA after the approval of the local Ethic Committee. We use the similar dose to randomized trial for JIA (up to 5 mg twice a day). The first patient was 16 y.o. at the time of TOFA administration in December 2019, the age of the other pts was from 2 to 12 y.o. By present time duration of TOFA therapy is from 6 to 15 mo. For the previous 6 months before TOFA initiation the number of flares was in average 8 per patient. After 6 months of TOFA treatment the number of new flares decreased to 0-1, except youngest patient of 2 y.o. in whom the number of flares decreased from 10 to 4 per the same period. In all 9 pts we minimize the dose or completely stop the steroids. New nodes formation stopped immediately in most pts and also the significant motion improvement of large (shoulder) joints were established. Drug tolerance was good in all pts, no AE were registered. But despite the good clinical effect without new heterotopic ossification in our first patient, we found continuous intraskeletal ossification between vertebral bodies, facet and sacroiliac joints in MRI.Conclusion:We are confident that the processes of heterotopic ossification in FOP are very similar to new born formation phenomenon in spondyloarthritis and reliable suppression of inflammation can interrupt the progression of the disease. We used similar justifications to our colleagues for the use of anti-cytokine drugs, but used a JAK-kinase inhibitor, it was extremely important the oral rout of drug administration and possibility to escape any injections in FOP. TOFA demonstrated positive effect and safety in children with severe course of FOP. It showed their advantages over the use of steroids and possibility to inhibit the rate of progression.References:[1]R.Haviv et al. Is fibrodysplasia ossificans progressiva aninterleukin-1 driven auto-inflammatory syndrome? Pediatric Rheumatology (2019) 17:84 //doi.org/10.1186/s12969-019-0386-6Disclosure of Interests:None declared.

Novel treatment options in advanced adenoid cystic carcinoma of the breast.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e13071-e13071
Author(s):  
Evan Wenig ◽  
Reumu E. Birhiray
Keyword(s):  
Disease Control ◽  
Adenoid Cystic Carcinoma ◽  
Metastatic Disease ◽  
Triple Negative ◽  
Treatment Options ◽  
Locally Advanced ◽  
Therapeutic Options ◽  
Breast Mass ◽  
Ongoing Research ◽  
Adenoid Cystic

e13071 Background: Adenoid cystic carcinoma (ACC) accounts for less than 0.1% of all breast cancer cases. The disease typically remains localized and indolent, and frequently occurs with triple negative status. Methods: In patients with locally advanced or metastatic disease, chemotherapy for triple negative breast carcinoma is seldom effective. Thus new treatment paradigms are desired. Drug targeted analysis derived from next generation sequencing and identification of driver mutations may offer a bright future in treatment options in chemo-resistant malignancy. Results: A 53 year old woman presented with breast mass and mastectomy with stage pT3N0M0 triple negative ACC of the breast resulting in observation. She later relapsed with chest wall disease, resulting in resection and radiation therapy. Shortly thereafter, she relapsed with pulmonary metastatic disease. She was treated with carboplatin and doxorubicin which were discontinued due to disease progression. Liquid assay revealed an IDH2 mutation, prompting treatment with enasidenib with ongoing evidence of disease control at 4 months. Patient tolerated treatment well without grade 3 or 4 adverse reactions. A 48 year old woman presented with an increasing 9.5 cm unresectable breast mass without distant metastasis. Pathology showed triple negative ACC of the breast, resulting in chemotherapy with doxorubicin, cyclophosphamide, and paclitaxel with clinically progressive disease. She represented with necrotic and ulcerating changes of the breast. Foundational genomic testing showed an FGFR2 mutation. After four months of treatment with erdafitinib, she had resolution of pain and cessation of pain medication. Her therapy led to a grade 2 adverse event related to hyperphosphatemia. She underwent surgical resection with negative margins. Conclusions: These examples illustrate a potential treatment paradigm for a rare malignancy for which there is no standard of care. Here we present two desperate cases, one of which had a driver mutation of IDH2, and the other FGFR2 for which there are targeted therapies approved in other disease states. The use of these two agents resulted in clinical benefit. A patient with metastatic disease treated with enasidenib has ongoing disease control for over 4 months with minimal adverse reaction. A patient with advanced local disease requiring narcotics and gabapentin for pain control treated with erdafitinib had significant symptomatic control with successful cessation of pain medications and ability to undergo potentially curable mastectomy with negative margins despite progression on prior chemotherapy. In summary, ongoing research of ACC of the breast will be required. Alternative therapeutic options related to targeted treatment may offer promise to clinical outcomes in the future. For cases of locally advanced or metastatic disease, the use of targeted therapy may offer new therapeutic options.

scholarly journals The contribution of epigenetics to the pathogenesis and gender dimorphism of systemic sclerosis: a comprehensive overview

2020 ◽  
Vol 12 ◽  
pp. 1759720X2091845 ◽  
Author(s):  
Bianca Saveria Fioretto ◽  
Irene Rosa ◽  
Eloisa Romano ◽  
Yukai Wang ◽  
Serena Guiducci ◽  
...  
Keyword(s):  
Systemic Sclerosis ◽  
X Chromosome ◽  
Clinical Manifestations ◽  
Connective Tissue Disorder ◽  
Epigenetic Modifications ◽  
Unknown Etiology ◽  
Comprehensive Overview ◽  
Gender Dimorphism ◽  
Immune Related Genes ◽  
The Right

Systemic sclerosis (SSc) is a life-threatening connective tissue disorder of unknown etiology characterized by widespread vascular injury and dysfunction, impaired angiogenesis, immune dysregulation and progressive fibrosis of the skin and internal organs. Over the past few years, a new trend of investigations is increasingly reporting aberrant epigenetic modifications in genes related to the pathogenesis of SSc, suggesting that, besides genetics, epigenetics may play a pivotal role in disease development and clinical manifestations. Like many other autoimmune diseases, SSc presents a striking female predominance, and even if the reason for this gender imbalance has yet to be completely understood, it appears that the X chromosome, which contains many gender and immune-related genes, could play a role in such gender-biased prevalence. Besides a short summary of the genetic background of SSc, in this review we provide a comprehensive overview of the most recent insights into the epigenetic modifications which underlie the pathophysiology of SSc. A particular focus is given to genetic variations in genes located on the X chromosome as well as to the main X-linked epigenetic modifications that can influence SSc susceptibility and clinical phenotype. On the basis of the most recent advances, there is realistic hope that integrating epigenetic data with genomic, transcriptomic, proteomic and metabolomic analyses may provide in the future a better picture of their functional implications in SSc, paving the right way for a better understanding of disease pathogenesis and the development of innovative therapeutic approaches.

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