Glomangiomas: Are They Rare Tumours Or Rarely Diagnosed?

10.5580/2a79 ◽  
2012 ◽  
Vol 3 (2) ◽  
Keyword(s):  
Rare Tumours

scholarly journals Platform study of genotyping-guided precision medicine for rare solid tumours: a study protocol for a phase II, non-randomised, 18-month, open-label, multiarm, single-centre clinical trial testing the safety and efficacy of multiple Chinese-approved targeted drugs and PD-1 inhibitors in the treatment of metastatic rare tumours

BMJ Open ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. e044543
Author(s):  
Shuhang Wang ◽  
Hui-Yao Huang ◽  
Dawei Wu ◽  
Hong Fang ◽  
Jianming Ying ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Targeted Therapy ◽  
Single Agent ◽  
Solid Tumours ◽  
Targeted Drugs ◽  
Gene Fusions ◽  
Single Centre ◽  
Open Label ◽  
Safety And Efficacy ◽  
Rare Tumours

IntroductionLimited clinical studies have been conducted on rare solid tumours, and there are few guidelines on the diagnosis and treatment, including experiences with targeted therapy and immunotherapy, of rare solid tumours in China, resulting in limited treatment options and poor outcomes. This study first proposes a definition of rare tumours and is designed to test the preliminary efficacy of targeted and immunotherapy drugs for the treatment of rare tumours.Methods and analysisThis is a phase II, open-label, non-randomised, multiarm, single-centre clinical trial in patients with advanced rare solid tumours who failed standard treatment; the study aims to evaluate the safety and efficacy of targeted drugs in patients with advanced rare solid tumours with corresponding actionable alterations, as well as the safety and efficacy of immune checkpoint (programmed death receptor inhibitor 1, PD-1) inhibitors in patients with advanced rare solid tumours without actionable alterations. Patients with advanced rare tumours who fail standardised treatment and carry actionable alterations (Epidermal growth factor receptor (EGFR) mutations, ALK gene fusions, ROS-1 gene fusions, C-MET gene amplifications/mutations, BRAF mutations, CDKN2A mutations, BRCA1/2 mutations, HER-2 mutations/overexpressions/amplifications or C-KIT mutations) will be enrolled in the targeted therapy arm and be given the corresponding targeted drugs. Patients without actionable alterations will be enrolled in the PD-1 inhibitor arm and be treated with sintilimab. After the patients treated with vemurafenib, niraparib and palbociclib acquire resistance, they will receive combination treatment with sintilimab or atezolizumab. With the use of Simon’s two-stage Minimax design, and the sample size was estimated to be 770. The primary endpoint of this study is the objective response rate. The secondary endpoints are progression-free survival in the targeted treatment group and single-agent immunotherapy group; the duration of response in the targeted therapy and single-agent immunotherapy groups; durable clinical benefit in the single-agent immunotherapy group; and the incidence of adverse events.Ethics and disseminationEthics approval was obtained from the Chinese Academy of Medical Sciences (ID: 20/132-2328). The results from this study will be actively disseminated through manuscript publications and conference presentations.Trial registration numbersNCT04423185; ChiCTR2000039310.

scholarly journals Chromosome X aneusomy and androgen receptor gene copy number aberrations in apocrine carcinoma of the breast

2021 ◽  
Author(s):  
Anna Cremonini ◽  
Luca Saragoni ◽  
Luca Morandi ◽  
Angelo G. Corradini ◽  
Caterina Ravaioli ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Gene Copy Number ◽  
Androgen Receptor Gene ◽  
Gene Copy ◽  
Immunohistochemical Expression ◽  
Neoplastic Cells ◽  
Genetic Changes ◽  
Rare Tumours ◽  
Regulator Genes

AbstractCarcinomas with apocrine differentiation (CAD) of the breast are rare tumours typically presenting high immunohistochemical expression of androgen receptor (AR) which is a target molecule for personalised therapy. To date, no studies have evaluated the genetic changes that are associated with AR immunohistochemical expression in CADs. The present work aims to characterise AR status in CADs. Twenty CAD tumours were studied with immunohistochemistry, in situ fluorescence hybridization and DNA methylation analysis, to evaluate AR expression and its regulator status. All tumours demonstrated high AR immunohistochemical expression, with over 95% of the neoplastic cells showing AR positivity in 19/20 cases. CADs showed AR gene copy loss in a percentage of neoplastic cells ranging from 5 to 84% (mean 48.93%). AR regulator genes, including the MAGE family, UXT and FLNA, presented variable methylation levels, but were mainly hypomethylated and therefore all transcriptionally active. The results of this study indicate that CADs present AR monosomy, paralleled by higher transcriptional activity of the gene with potential to influence response to AR deprivation therapy.

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

Posterior fossa ganglioglioma—an unusual cause of hearing loss

1987 ◽  
Vol 101 (7) ◽  
pp. 714-717 ◽  
Author(s):  
R. S. Dhillon
Keyword(s):  
Hearing Loss ◽  
Posterior Fossa ◽  
Review Of The Literature ◽  
Rare Tumours

Intracranial or spinal gangliogliomas of the CNS are rare tumours. Although several cases have been reported over the years, controversy still remains as to their origin, treatment and prognosis. A case of an eight-year-old girl with a ganglioglioma in the cerebellum with extension into the cerebello-pontine angle is described. The histological basis of the diagnosis is discussed and a review of the literature is presented.

scholarly journals The European Paediatric Rare Tumours Network ‐ European Registry (PARTNER) project for very rare tumors in children

2021 ◽  
Author(s):  
Daniel Orbach ◽  
Andrea Ferrari ◽  
Dominik T. Schneider ◽  
Yves Reguerre ◽  
Jan Godzinski ◽  
...  
Keyword(s):  
Rare Tumors ◽  
European Paediatric ◽  
Rare Tumours ◽  
European Registry

Hairy polyps of the nasopharynx

2002 ◽  
Vol 116 (6) ◽  
pp. 467-469 ◽  
Author(s):  
S. J. Jarvis ◽  
P. D. Bull
Keyword(s):  
The Body ◽  
Rare Tumours

Hairy polyps are rare tumours that can occur anywhere in the body. They are especially rare in the pharynx. We report two cases of hairy polyps which originated from the nasopharynx. One presentedwith intermittent obstruction of the airway and the second presented as a visible pedunculated mass protruding from the mouth of a neonate.

scholarly journals Nasopharyngeal non-intestinal-type adenocarcinoma: a case report and updated review of the literature

2017 ◽  
Vol 24 (1) ◽  
pp. 55 ◽  
Author(s):  
C. Jain ◽  
L. Caulley ◽  
K.I. Macdonald ◽  
B. Purgina ◽  
C.K. Lai ◽  
...  
Keyword(s):  
Radiation Treatment ◽  
Rare Condition ◽  
Intestinal Type ◽  
World Health ◽  
Primary Radiation ◽  
High Grade ◽  
Rare Tumours ◽  
Intestinal Type Adenocarcinoma ◽  
Health Organization ◽  
Nasopharyngeal Masses

Background Non-intestinal-type adenocarcinoma is a malignancy traditionally found in the sinonasal cavity. To our knowledge, this case is the first reported of this rare condition originating in the nasopharynx.Case Presentation A 67-year-old woman with nasopharyngeal non-intestinal-type adenocarcinoma, with an accompanying parapharyngeal mass received primary radiation treatment for both lesions. Her tumour subsequently persisted, with a concomitant conversion in pathology from a low- to a high-grade malignancy.Results Non-intestinal-type and intestinal-type adenocarcinomas of the nasopharynx are extremely rare tumours and do not appear in the World Health Organization classification system. We review the pathophysiologic features of these malignancies and propose modifications to the current classification system.Conclusions Non-intestinal-type adenocarcinoma should be included in the differential diagnosis of nasopharyngeal masses. In our experience, this tumour in this location showed a partial response to primary radiation but later converted from a low- to a high-grade adenocarcinoma.

Inflammatory myofibroblastic tumour causing intestinal obstruction in a patient with neurofibromatosis type 1

2021 ◽  
Vol 103 (2) ◽  
pp. e53-e55
Author(s):  
XE Chuang ◽  
DYS Chan ◽  
ML Oon ◽  
S Wang ◽  
CLK Chia
Keyword(s):  
Intestinal Obstruction ◽  
Neurofibromatosis Type 1 ◽  
Bowel Resection ◽  
Neurofibromatosis Type ◽  
Resection Margins ◽  
Soft Tissue Tumours ◽  
En Bloc ◽  
Biological Behaviour ◽  
Rare Tumours

Inflammatory myofibroblastic tumours (IMTs) are rare tumours with unpredictable biological behaviour ranging from benign to locally invasive and rarely, distant metastasis. While neurofibromatosis type 1 (NF1) may manifest with gastrointestinal soft tissue tumours, this is the first report in the literature that describes an IMT occurring in a NF1 patient who presented with intestinal obstruction. Our patient presented with intestinal obstruction secondary to an obstructing terminal ileum mesenteric tumour. En bloc bowel resection was performed, with histology revealing an IMT and an adjacent neurofibroma. The resection margins were clear and the patient was free of recurrence at six months.

A retrospective study of primitive neuroectodermal tumor (PNET) of the kidney in a tertiary cancer center in India.

2021 ◽  
Vol 39 (6_suppl) ◽  
pp. 361-361
Author(s):  
Nandini Sharrel Menon ◽  
Devanshi Kalra ◽  
Kumar Prabhash ◽  
Vanita Noronha ◽  
Santosh Menon ◽  
...  
Keyword(s):  
Overall Survival ◽  
Retrospective Study ◽  
Metastatic Disease ◽  
Tumor Size ◽  
Progression Free Survival ◽  
Adjuvant Radiation ◽  
Pathological Feature ◽  
Free Survival ◽  
Rare Tumours ◽  
Multimodality Approach

361 Background: Primitive neuroectodermal tumours (PNET) of the kidney are rare tumours with aggressive behaviour. This study was conducted to review the diagnosis and management of patients with renal PNET at our centre. Methods: This was a retrospective study conducted at a tertiary cancer care centre in Mumbai, India. The demographic and clinical data of 17 patients treated by the uro-oncology services were retrieved from electronic medical records. Descriptive analysis was performed for baseline characteristics.Overall & progression-free survival was determined using the Kaplan Meier method. Cox regression was used for multivariate analysis. Results: There were 12 male and 5 female patients in this cohort with a median age of 27 years. At diagnosis 2 patients had metastatic disease and 15 patients had non-metastatic disease. Median follow up in this cohort was 22 months (range 2-30 months). Presenting complaints were hematuria, abdominal pain, flank pain, fever, bone pain, and incidentally detected renal mass. All patients were Mic -2 positive and 13 were FLI-1 positive on immunohistochemistry. Fourteen patients underwent radical nephrectomy. One (5.9%) patient received both neoadjuvant and adjuvant chemotherapy, 8 (47.1%) received adjuvant and 2 (11.8%) received palliative chemotherapy upfront. Eight patients received adjuvant radiation to the renal bed.There was disease progression in12 patients,10 of 15 patients with non metastatic disease at diagnosis eventually developed metastasis.The median progression free survival (PFS) was 10.55 months.The pathological feature that was associated with a shorter PFS was tumor size ⩾10 cm(p = 0.044).The median overall survival was 20.04 months (95% CI 9.49 -not reached). The presence of metastasis and treatment received significantly impacted overall survival (OS). Median OS in patients with non-metastatic disease was not reached versus 14.1 months in those with metastatic disease (p = .019).The median OS in patients treated with multimodality approach was 20.11 months. Patients did not undergo surgery had a median OS of 5.45 months (p < .001) and those who did not receive any chemotherapy had a median OS of 4.57 months (p = .024).Thus, patients who received multimodality treatment had better outcomes. Conclusions: PNET kidney is an aggressive tumor which should be treated with a multimodality approach. Tumor size ⩾10 cm was an adverse prognostic factor.

Rare sacral extradural grade II ependymoma: a comprehensive review of literature

2021 ◽  
Vol 14 (11) ◽  
pp. e246540
Author(s):  
Ricardo J Fernández-de Thomas ◽  
Natalie Amaral-Nieves ◽  
Orlando De Jesus ◽  
Emil A Pastrana
Keyword(s):  
Treatment Guidelines ◽  
Myxopapillary Ependymoma ◽  
Low Grade ◽  
Review Of Literature ◽  
Total Resection ◽  
Comprehensive Review ◽  
Sacral Region ◽  
Rare Tumours ◽  
Grade Ii ◽  
Sacral Spinal Cord

Sacral spinal cord ependymoma is an uncommon pathology. Most of the reported cases are consistent with a myxopapillary ependymoma histopathologic subtype. Non-myxopapillary ependymomas rarely occur in the sacral region. Most lesions are intradural; however, rare extradural cases can occur. We present the case of a 46-year-old female patient diagnosed with a grade II sacral extradural ependymoma, emphasising the importance of an interdepartmental case approach for diagnosis and management. Even though grade II ependymomas are considered low grade, the potential for recurrence and metastatic disease has been reported. There are no treatment guidelines for these rare tumours besides gross total resection.

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