Rare Tumors最新文献

{"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":"15 ","pages":"20363613231176719"},"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":"15 ","pages":"20363613231197991"},"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":"15 ","pages":"20363613231183785"},"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":"15 ","pages":"20363613231168767"},"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":"15 ","pages":"20363613231172260"},"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":"15 ","pages":"20363613231165883"},"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":"15 ","pages":"20363613231166540"},"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}

{"title":"Pediatric diffuse hemispheric glioma H3 G34-mutant with gains of the BRAF locus: An illustrative case.","authors":"Christine Marlow,&nbsp;Joshua A Cuoco,&nbsp;Austin R Hoggarth,&nbsp;Michael S Stump,&nbsp;Lisa S Apfel,&nbsp;Cara M Rogers","doi":"10.1177/20363613231168704","DOIUrl":"https://doi.org/10.1177/20363613231168704","url":null,"abstract":"<p><p>Diffuse hemispheric glioma, H3 G34-mutant, is a recently recognized distinct high-grade glioma with a dismal prognosis. In addition to the H3 G34 missense mutation, numerous genetic events have been identified in these malignant tumors, including <i>ATRX</i>, <i>TP53</i>, and, rarely, <i>BRAF</i> genes. There are only a few reports to date that have identified <i>BRAF</i> mutations in diffuse hemispheric glioma, H3 G34-mutant. Moreover, to our knowledge, gains of the <i>BRAF</i> locus have yet to be described. Here, we present a case of an 11-year-old male with a diffuse hemispheric glioma, H3 G34-mutant, found to have novel gains of the <i>BRAF</i> locus. Furthermore, we emphasize the current genetic landscape of diffuse hemispheric glioma, H3 G34-mutant, and implications of an aberrant BRAF signaling pathway.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"15 ","pages":"20363613231168704"},"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/d4/b1/10.1177_20363613231168704.PMC10088409.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9660217","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":"Recurrent Aggressive Fibromatosis Coexisting With Papillary Carcinoma Thyroid - Case Report.","authors":"Bharath Bg,&nbsp;Sameer Rastogi,&nbsp;Ekta Dhamija,&nbsp;Adarsh Barwad","doi":"10.1177/20363613231172868","DOIUrl":"https://doi.org/10.1177/20363613231172868","url":null,"abstract":"<p><strong>Background: </strong>Aggressive fibromatosis (AF) is a benign tumor that usually has a locally aggressive and recurrent disease course. Reports of association between AF and malignancies have been reported infrequently.</p><p><strong>Case: </strong>We report a case of a 49-years lady who had papillary thyroid carcinoma associated with a distinct desmoid tumor occurring concurrently on the right side of the neck. Initial management comprised of total thyroidectomy followed by radio-iodine therapy and desmoid tumor resection. Recurrent AF developed at the same site as before after 2 years of resection. The recurrent tumor was managed with sorafenib, the patient responded with a resolution of symptoms, and the tumor remained stable. Beta-catenin mutation done by Sanger sequencing was negative in the tumor specimen.</p><p><strong>Conclusion: </strong>AF can occur as a separate tumor in association with PTC. If symptoms are not life-threatening medical management may be a better choice in management.</p>","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"15 ","pages":"20363613231172868"},"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/38/53/10.1177_20363613231172868.PMC10126633.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9364654","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":"DCvax: A promising advancement in oncology for the treatment of glioblastoma.","authors":"Areeba Fareed,&nbsp;Samia Rohail,&nbsp;Alishba Adnan,&nbsp;Abdul Moiz Khan","doi":"10.1177/20363613231179541","DOIUrl":"https://doi.org/10.1177/20363613231179541","url":null,"abstract":"Dear Editor, Glioblastoma is a malignant neoplasm of the central nervous system that arises from glial cells, primarily astrocyctes and is characterized by poorly differentiated, fusiform, round or pleomorphic astrocyctic cells with marked nuclear atypical and brisk mitotic activity. Despite advances in early diagnosis and comprehensive treatments, there is nearly 100% recurrence rate and dismal patient survival. According to researchers, more than 13,000 Americans are diagnosed with Glioblastoma annually, causing significant morbidity and mortality. There has been no cure for Glioblastoma so far. Treatment options often include surgical removal of the tumor followed by concomitant radiation and adjuvant temozolomide TMZ chemotherapy which has been the standard of care for glioblastoma since decades, but exposure to high doses of ionizing radiation is a well-known exogenous risk factor for glioblastoma. The inability to cross the BBB is the major obstacle in achieving remission after surgical resection followed by chemotherapy and radiation. As a result, glioblastoma typically recurs within six to 8 months and the survival rate is generally less than 5%. Despite the development of novel, complex, multidisciplinary, and targeted therapies the outcome for patients remains almost universally lethal. Therefore, the need for effective treatment is undeniable. For this reason, it has been a priority area in cancer research. Recently, US biotech company Northwest Biotherapeutics has developed a brain cancer vaccine, called DCVax, which is designed to help patients’ immune system to target their tumors that may prolong their life by months or, in some cases, years. Thus, opening a door for the development of innovative therapy for targeting glioblastoma. The vaccine is created for each patient individually by isolating dendritic cells, from their blood which is then primed with biomarkers from a sample of the patient’s tumor. Dendritic cells present tumor antigens to the immune system, prime T cells, and mobilize antitumor responses. To evaluate the safety of the vaccine and its impact on survival time in patients with Glioblastoma, a phase 3 randomized control trial was conducted. In this trial, 348 patients newly diagnosed with Glioblastoma were tested at King’s College Hospital and other centers around the world for 8 years. Patients had surgery to remove their tumors as much as possible, followed by radiation and chemotherapy as the standard treatment for Glioblastoma. Among these patients, two out of three were treated with the vaccine, DCVax-L, with the remaining one-third receiving a placebo. The astonishing result of the trial has shown that newly diagnosed patients who received the vaccine survived for 19.3 months compared to 16.5 months for those who received a placebo. Overall 13% of all trial participants treated with DCVax lived more than 5 years after diagnosis compared with 5.7% in the comparison group","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"15 ","pages":"20363613231179541"},"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/0f/7f/10.1177_20363613231179541.PMC10225952.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10298410","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}