Rare Tumors最新文献

{"title":"Posterior fossa giant adenoid cystic carcinoma with skull base invasion mimicking glomus jugulare: A case report and review of literature.","authors":"Anand Kumar Das,&nbsp;Saraj Kumar Singh,&nbsp;Kranti Bhavana,&nbsp;Subhash Kumar","doi":"10.1177/20363613221150218","DOIUrl":"https://doi.org/10.1177/20363613221150218","url":null,"abstract":"<p><p>The author describes a rare case of giant adenoid cystic carcinoma (ACC) mimicking large paraganglioma with lower cranial nerve palsy. A 60-year-old female presented with a progressive increase in postauricular swelling with unilateral hearing loss, facial deviation, difficulty in swallowing, and hoarseness of voice. MRI brain showed highly vascular infiltrating and osteolytic mass suggestive of large glomus jugulare versus sarcoma. It was completely engulfing the jugular foramen and lower cranial nerves with bony erosion of the jugular foramen and occipital condyle. The whole mastoid was filled with the tumor. On digital subtraction angiography the majority of blood supply was from the occipital branch of the external carotid artery and vertebral artery. The patient underwent percutaneous embolization followed by external carotid ligation and resection of the mass. The postoperative course was uneventful. Histopathology was suggestive of mixed ACCs. The patient received radiotherapy. After 1 year of follow up no recurrence or distant metastasis was noted.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/db/e8/10.1177_20363613221150218.PMC9830093.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10532539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nirogacestat and its potential impact on desmoid tumor.","authors":"Samia Rohail,&nbsp;Areeba Fareed,&nbsp;Muskaan Asim Taimuri,&nbsp;Alishba Adnan","doi":"10.1177/20363613231182485","DOIUrl":"https://doi.org/10.1177/20363613231182485","url":null,"abstract":"Desmoid tumors (DT) are rare, benign, and invasive soft tissue tumors affecting 3–5 people in one million each year. Also known as desmoid fibromatosis, they present usually in the second and fourth decade of life, with an unpredictable prognosis and a risk of significant impairment in quality of life. According to estimates there are 1000 to 1650 new diagnoses in the United States each year. Habitually, these tumors are found in the abdomen, arms, and legs, however, they can affect vital organs as well. Desmoid tumors do not metastasize but painful disfigurement and problems in functioning due to local, aggressive growth can occur. Since desmoid tumors lack the ability to metastasize, local control using surgery and radiation has traditionally been the mainstay of therapy for these tumors. However, recurrence rate is very high, especially after surgery and in rare cases, it can be fatal. Therefore, the need for effective treatment is undeniable. The Food and Drug Administration (FDA) recently awarded Nirogacestat’s new drug application (NDA) for the treatment of adult patients with desmoid tumours a priority evaluation. The FDA has also given desmoid tumours in adult patients Fast Track and Breakthrough Therapy classifications. Nirogacestat is an oral, specific, small-molecule gamma secretase inhibitor that works by cleaving a variety of transmembrane protein complexes, including Notch, which may be involved in pathways that support the development of desmoid tumours. Inhibition of γ-secretase preserves membrane-bound B-cell maturation antigen (BCMA) and increases target density by reducing the levels of soluble BCMA, thus serving as a decoy receptor for BCMA-targeted therapy. The ability of Nirogacestat to potentiate the activity of BCMA-targeted therapy has been observed in preclinical models of multiple myeloma. A DeFi study, the largest and most rigorous randomized controlled trial was conducted in which 142 patients with advanced desmoid tumors were recruited. Patients were randomized to receive either Nirogacestat 150 mg or placebo twice daily in cycles of 28 days until they developed symptoms on radiologic imaging. The results showed a statistically significant improvement in progression of survival in patients randomized to Nirogacestat compared to placebo, with an average 71% reduction in risk of disease advancement. Participants taking Nirogacestat improved by 41% in their response within 5.6 months, compared to 8% in a longer period of 11.1 months by the placebo group. However, treatment was stopped due to ovarian dysfunction, which is defined by investigator-reported events of amenorrhea, premature menopause, menopause, and ovarian failure and was seen in 75% of women of childbearing potential receiving Nirogacestat. Nirogacestat demonstrated a manageable safety profile in DeFi studies, with 95% of all treatment-emergent adverse events. Therefore, treatment should be individualized for each patient to optimize tumor control and impro","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f0/ed/10.1177_20363613231182485.PMC10265347.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10664048","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PARP inhibition utilized in combination therapy with Olaparib-Temozolomide to achieve disease stabilization in a rare case of BRCA1-mutant, metastatic myxopapillary ependymoma.","authors":"Preethika Mahalingam,&nbsp;Sam Smith,&nbsp;Juanita Lopez,&nbsp;Rajaei K Sharma,&nbsp;Thomas Millard,&nbsp;Khin Thway,&nbsp;Cyril Fisher,&nbsp;David A Reardon,&nbsp;Robin Jones,&nbsp;Andrew G Nicholson,&nbsp;David Cunningham,&nbsp;Liam Welsh,&nbsp;Bhupinder Sharma","doi":"10.1177/20363613231152333","DOIUrl":"https://doi.org/10.1177/20363613231152333","url":null,"abstract":"<p><p>Myxopapillary ependymoma (MPE) is a primary tumor of the central nervous system (CNS), characteristically an indolent malignancy involving the spinal conus medullaris, Filum terminale or cauda equina. We present a rare case of MPE, recurrent in the pelvic soft tissue with eventual pleural and intra-pulmonary metastasis. Refractory to repeated gross resection, adjuvant radiotherapy, platinum-based chemotherapy and temozolomide exploitation of mutant somatic BRCA1 status with the addition of a poly (ADP-ribose); polymerase inhibitor (PARPi) in a novel combination regimen with olaparib-temozolomide (OT) has achieved stable radiological disease after 10 cycles.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d5/09/10.1177_20363613231152333.PMC9869186.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10622329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A staghorn kidney stone or extraskeletal osteosarcoma of the kidney? A case report and literature review.","authors":"Ali Emadi Torghabeh,&nbsp;Masoumeh Gharib,&nbsp;Siavash Zahed Anaraki,&nbsp;Parisa Rabiei","doi":"10.1177/20363613231176719","DOIUrl":"https://doi.org/10.1177/20363613231176719","url":null,"abstract":"<p><p>Extraskeletal osteosarcoma (ESOS) is a very rare entity among renal malignancies. There are few reports of renal ESOS in the database. Renal ESOS was found to have a high rate of local recurrence and distant metastasis. In most reports, the overall survival of patients was less than 1 year. We present a 51-year-old man who presented with gross hematuria and a clinical diagnosis of a staghorn stone in the left kidney. He underwent radical nephrectomy. The pathologic diagnosis of osteosarcoma was evident.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f0/28/10.1177_20363613231176719.PMC10184259.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10290162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vorasidenib: A promising therapeutic breakthrough for diffuse isocitrate dehydrogenase mutant gliomas.","authors":"Abdul Wahid,&nbsp;Amna Tariq,&nbsp;Faiza Ahsan,&nbsp;Fatima Asif","doi":"10.1177/20363613231197991","DOIUrl":"https://doi.org/10.1177/20363613231197991","url":null,"abstract":"The most common type of major malignant tumor of the brain includes gliomas, which are marked by diffuse invasion of malignant cells in the brain. Grade II and grade III diffuse gliomas classi fi ed by the World health organization (WHO) are also known as lower-grade gliomas LLG. These tumors are seen more frequently in younger people, show a slower growth rate, and mostly does not appear on contrast enhancement on T1-weighted brain MRI in the beginning. Current treatment includes chemotherapy, radiation, and maximally safe tumor resection. However, there is a high chance of recurrence and transformation of LLG into a more aggressive tumor. The advanced treatment outlook is to attack mutant genetic changes that are causing gliomas in the initial stage to minimize the use of harmful therapies and to hinder its progression to a higher tumor grade. 1 Isocitrate dehydrogenase (IDH), is an important enzyme having a major role in the tricarboxylic cycle as well as controlling the redox cofactor in between mitochondria and cytosol. IDH1, IDH2, and IDH3 are the three existing isoforms. 2 Mutations in isoforms of IDH1 and IDH2, that are heterozygous lead to the formation of oncogenic d-2-hy-droxyglutarate (2-HG), 3 causing different malignant growth counting","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/dd/41/10.1177_20363613231197991.PMC10439683.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10356345","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Breakthrough treatment choice for Acute Myeloid Leukemia in pediatric and adult patients: Revumenib, an oral selective inhibitor of KMTA2Ar.","authors":"Areeba Fareed,&nbsp;Nimrah Inam,&nbsp;Fatima Faraz","doi":"10.1177/20363613231183785","DOIUrl":"https://doi.org/10.1177/20363613231183785","url":null,"abstract":"Acute myeloid leukemia (AML) represents the predominant manifestation of acute leukemia in the adult population, whereas in children, it ranks second in terms of frequency. It is characterized by genetic mutations and epigenetic dysregulation resulting in a heterogeneous population of malignant cells with blocked differentiation resulting in increased proliferation and self-renewal activity . Every year 20,000 new cases of AML are diagnosed in the United States, whereas the global burden of the disease is believed to range between 119,000 to 352,000 cases per annum. NPM1 gene mutations are the most encountered genetic aberrations in acute myeloid leukemia (AML), being detectable in about one-third of adult AML and 50– 60% of AML patients with normal karyotype. The mutant NPM1 is directly involved in promoting increased expression of homeobox (HOX) genes, which are necessary for maintaining the leukemic cells in undifferentiated state. Recent studies have shown the importance of MLL1Menin interaction in AML with mutated nucleophosmin 1 (NPM1c). MLL1 (also known as lysine methyltransferase 2A [KMT2A]) is located on chromosome 11q23, but chromosomal translocation (MLL1-rearrangement [MLL1-r]) is observed in 5%–10% of acute leukemia cases (AML and ALL) in adults and children. This leads to the expression of chimeric MLL1 fusion proteins (ML-FP) that drive leukemic gene expression and proliferation and prevent hematopoietic differentiation, consequently giving rise to a particularly aggressive subtype of leukemia with an unfavorable outcome. Chromosomal rearrangements involving KMT2A gene are prevalent in neonates with acute leukemia, and affects 75% of newborns with ALL. Research findings suggest that this crucial molecular alternation takes place antenatally, leading to leukemia during the infantile period. Although induction therapy achieves complete remission (CR) in 60–80% cases, no targeted therapies have specifically been approved for acute leukemia with KMT2A rearrangement (KMT2Ar) or mutated NPM1currently. Unfortunately, the median survival is relatively brief at 8.5 months with 2-year and 5-year Overall Survival (OS) rates just 32% and 24%, respectively. Furthermore, existing research has suggested that circRNAs are capable of playing a role in the post-transcriptional regulation of AML by binding miRNAs, activating downstream signaling cascades, and regulating the expression of related genes, closely correlated with a wide variety of processes of AML. AML has a poor prognosis and a considerable tendency to relapse therefore, the need for effective treatment is undeniable.","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/56/fa/10.1177_20363613231183785.PMC10272631.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10302166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hysteroscopic management of molar pregnancy: A series of 36 cases.","authors":"Matthieu de Codt,&nbsp;Pascale Jadoul,&nbsp;Mathieu Luyckx,&nbsp;Jean-Luc Squifflet,&nbsp;Marie-Madeleine Dolmans,&nbsp;Charlotte Maillard,&nbsp;Jean-François Baurain,&nbsp;Etienne Marbaix,&nbsp;Amandine Gerday","doi":"10.1177/20363613231168767","DOIUrl":"https://doi.org/10.1177/20363613231168767","url":null,"abstract":"<p><p><b>Background:</b> Hydatidiform Mole (HM) is the most common form of gestational trophoblastic disease. Dilatation and curettage is the classical treatment of this affection. Hysteroscopic resection (HsR) is an alternative for the treatment of intra-uterine pathology. <b>Objective:</b> To describe the feasibility of HsR for the management of HM. <b>Result:</b> Case series of patients who had a complete or partial HM confirmed by histological examination of the trophoblastic tissue resected by operative hysteroscopy between 2007 and 2019. After approval of our ethics committee, we evaluated 36 patients who underwent hysteroscopic resection for molar pregnancy. Histological analysis showed partial HM in 28 patients (77.8%) and complete HM in 8 (22.2%). Main surgical complications were uterine perforation in one patient and glycine resorption in 10 patients with two cases of hyponatremia corrected by standard treatment. We performed an ultrasound control 1 month after the intervention in 19 patients (52.8%) as they had slow decrease of HCG or bleeding complaints and found retained product of conception (RPOC) in six patients (16.7%). <b>Conclusion:</b> This first report on a small number of patients demonstrate that hysteroscopic resection is a feasible procedure for the management of molar pregnancy. Direct visualization of the procedure helps the surgeon to control the resection. Further studies are mandatory to compare this technique with D&C in term of RPOC and fertility outcomes as it remains the standard treatment.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/77/61/10.1177_20363613231168767.PMC10074611.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9279481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ovarian serous borderline tumor with mural nodules of anaplastic carcinoma and omental involvement: A case report.","authors":"Paula I Hernandez Acevedo,&nbsp;Gloria J Carter,&nbsp;Madeleine Courtney-Brooks,&nbsp;Beth Z Clark","doi":"10.1177/20363613231172260","DOIUrl":"https://doi.org/10.1177/20363613231172260","url":null,"abstract":"<p><p>Mural nodules are rarely identified in cystic ovarian neoplasms, and have been categorized into sarcoma-like, sarcomatous, and anaplastic carcinomatous types. Most reports of these mural nodules have been described in mucinous ovarian tumors. In this case report, we describe an ovarian serous borderline tumor with mural nodules composed of high-grade carcinoma with anaplastic features and necrosis, including the morphologic features, immunoprofile, and results of tumor DNA sequencing. Omental involvement was also identified. Recognition of this phenomenon in serous tumors is important, so that thickened areas of cyst wall in ovarian serous tumors will be thoroughly examined.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/53/db/10.1177_20363613231172260.PMC10126381.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9364653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fibrous dysplasia associated with peripheral giant cell granoluma in maxilla in a young patient, a case report of rare hybrid lesion.","authors":"Abbas Karimi,&nbsp;Samira Derakhshan,&nbsp;Mahboube Hasheminasab,&nbsp;Sheida Kordi","doi":"10.1177/20363613231165883","DOIUrl":"https://doi.org/10.1177/20363613231165883","url":null,"abstract":"<p><p>Benign fibro-osseous lesions are a diverse range of entities that have distinct clinical and radiographic features. They can occur as solitary lesions or concomitant with other pathologies as hybrid lesions. Fibrous dysplasia (FD) accompanied by central giant cell granuloma (CGCG), peripheral giant cell granuloma (PGCG) or peripheral ossifying fibroma (POF) as hybrid lesions, is reported very rarely in the literature. Although we were unable to find any reports of FD with PGCG as a hybrid lesion. Fibro-osseous lesions have certain histopathological features in common with PGCG including multinucleated giant cells. Here we report a 28 year old female with a painless, slow growing and pedunculated swelling of the maxilla for 18 months. Differential diagnosis consisted of FD, cemento-ossifying fibroma (COF), chondrosarcoma and probable PGCG considering radiographic and clinical investigations. Histopathologic findings revealed PGCG and FD as a hybrid lesion. The combination of PGCG and FD has not been reported in the literature so far.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2e/c9/10.1177_20363613231165883.PMC10134184.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9450500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Solitary amyloid tumor of the palate: A case report and literature review.","authors":"Farnoosh Razmara,&nbsp;Samira Derakhshan,&nbsp;Nazanin Mahdavi,&nbsp;Saba Mohammadi","doi":"10.1177/20363613231166540","DOIUrl":"https://doi.org/10.1177/20363613231166540","url":null,"abstract":"<p><p>Amyloidosis is often caused by the abnormal extracellular accumulation of amyloid in organs and tissues. This condition, affecting the head and neck region, is typically localized, and may also involve the oral cavity, particularly the tongue and buccal mucosa. As a solitary manifestation, the localized amyloidosis occurring intraosseous is highly infrequent. In addition, localized amyloidosis has a great rate of recurrence. In this paper, a 50-year-old female patient with the chief complaint of pain in the anterior of the maxilla is reported. According to clinical examination, no significant pathologic lesion was seen. The radiographic image showed a radiolucent lesion around teeth four and five. The treatment of choice for the patient was an excisional biopsy. As amyloidosis diagnosis is clinically challenging, biopsy and histologic examination of lesions are necessary in this regard. Accordingly, it is concluded that long-term follow-up is mandatory in case of localized amyloidosis because late recurrence can occur in some cases.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":null,"pages":null},"PeriodicalIF":0.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e6/d9/10.1177_20363613231166540.PMC10037730.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9183380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}