Rare Tumors最新文献

{"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":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/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":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/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":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/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}

{"title":"Granular cell tumor of the lung and tracheobronchial tree: Two case-presentation with a review of the literature.","authors":"Yoldez Houcine,&nbsp;Mouna Mlika,&nbsp;Chirine Moussa,&nbsp;Houda Rouis,&nbsp;Emna Brahem,&nbsp;Olfa Ismail,&nbsp;Sonia Maȃlej,&nbsp;Faouzi El Mezni","doi":"10.1177/20363613231187822","DOIUrl":"https://doi.org/10.1177/20363613231187822","url":null,"abstract":"<p><p>Pulmonary granular cells tumors (CGT) are rare tumors, that derive from Schwann cells. In the tracheobronchial and pulmonary tree, they remain a diagnostic challenge. There are no well-established criteria to differentiate between benign, atypical, and malignant GCT. Moreover, its real frequency in the respiratory tract is still unknown. Here, we represent 2 cases of bronchial and lung GCTs. We aim to highlight the frequency of all clinicopathological characteristics of this rare tumor in the tracheobronchial and pulmonary tree location based on our cases and the available literature in a large systematic review.</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/4c/ef/10.1177_20363613231187822.PMC10338731.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10302748","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 rare case of synchronous follicular thyroid carcinoma arising within a mature cystic ovarian teratoma and stage IV differentiated thyroid cancer in iodine-deficient area in Viet Nam.","authors":"Phong Hong Nguyen,&nbsp;Thang Nguyen,&nbsp;Chien Minh Pham","doi":"10.1177/20363613231161940","DOIUrl":"https://doi.org/10.1177/20363613231161940","url":null,"abstract":"<p><p>Well-differentiated thyroid carcinoma rarely spreads to soft tissues. Thyroid carcinoma arising within a mature cystic teratoma is even rarer. We report an extremely rare case of synchronous follicular thyroid carcinoma arising within a mature cystic ovarian teratoma and stage IV differentiated thyroid carcinoma. A 62-year-old woman who lived in an iodine-deficient area was accidentally diagnosed with an ovarian cyst during a radiological metastatic work-up for thyroid cancer. Following laparoscopic left salpingo-oophorectomy, histopathological examination revealed a follicular thyroid carcinoma arising within a mature cystic teratoma. After that, total thyroidectomy and surgical resection of the soft tissue lesion in the supraclavicular fossa were performed, and the patient received subsequent ¹³¹I ablation therapy, but the disease progression was recorded 3 months later. We believe that iodine deficiency plays a role in the malignant transformation of thyroid tissues within a mature cystic teratoma. In elderly individuals with significant metastases, radioactive iodine therapy is ineffective.</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/8a/28/10.1177_20363613231161940.PMC9989423.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9085852","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":"Lymphangitic carcinomatosis as the initial manifestation of primary signet-ring cell adenocarcinoma of the lung: A case report.","authors":"David Corredor-Orlandelli,&nbsp;Lina Vargas","doi":"10.1177/20363613231164017","DOIUrl":"https://doi.org/10.1177/20363613231164017","url":null,"abstract":"<p><p>Signet-ring cell carcinomas are an aggressive, poorly differentiated, and highly invasive adenocarcinoma carrying a poor prognosis. Most of these tumors originate in gastrointestinal organs; however, primary lung signet-ring cell adenocarcinomas can rarely occur. Tumoral lymphatic infiltration is a complication of these tumors and can cause phenomena such as lymphangitic carcinomatosis, characterized by a nodular thickening of the pleura, pleural effusions, and mediastinal lymphadenopathies. We report a case of a 63-year-old ex-smoker with a 2-week clinical course of dyspnea and pleuritic chest pain in which a nodular thickening of the pleura and pleural effusion were documented and led to the diagnosis of a primary signet-ring cell adenocarcinoma of the lung with lymphangitic carcinomatosis. This complication has never been described in the context of a primary lung tumor of this subtype. Both entities carry a high mortality and have no therapeutical options. This report adds to the information available about them.</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/8a/08/10.1177_20363613231164017.PMC10014970.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9152994","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":"Conference Report: European Society for Medical Oncology Congress 2022.","authors":"Sevda Dogan","doi":"10.1177/20363613231162474","DOIUrl":"https://doi.org/10.1177/20363613231162474","url":null,"abstract":"<p><p>The European Society of Medical Oncology took place in Paris Convention Centre, Paris, France on 9th -13th September 2022 and was attended by more than 28,000 delegates, 23,000 of which were in person and 5000 online. This was the first on-site ESMO congress after the COVID-19 pandemic. This report focuses on a selection of talks delivered at the conference. There was a vast collection of interesting talks, nevertheless, I attended talks that focused on rare cancers.</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/27/ce/10.1177_20363613231162474.PMC9989427.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9093093","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":"An incidental discovery of a gastric follicular dendritic cell sarcoma: A rare case report and a literature review.","authors":"Farah Sassi,&nbsp;Ghada Sahraoui,&nbsp;Lamia Charfi,&nbsp;Leila Achouri,&nbsp;Raoudha Doghri,&nbsp;Karima Mrad","doi":"10.1177/20363613231172077","DOIUrl":"https://doi.org/10.1177/20363613231172077","url":null,"abstract":"<p><p><b>Introduction:</b> Follicular dendritic cell sarcomas (FDCS) are rare tumours, typically seen in lymph nodes. However, in about one third of the reported cases, a FDCS presents as an extranodal mass. Involvement of the gastrointestinal tract is rare, and the stomach is even rarer with only four cases described to date. The aim of this study was to review clinical characteristics, pathologic features, emphasize on differential diagnosis and discuss therapeutic modalities and prognosis of this rare entity.<b>Case presentation:</b> We report on a 36-year-old female patient with no past medical history, an incidentally discovered FDCS located in the stomach with the presence of lymph node metastasis at the time of diagnosis. The diagnosis of a FDCS was made on morphological and immunohistochemical findings where tumor cells expressed CD21 and CD23. The tumor was resected by gastrectomy with extended para-aortic lymphadenectomy, with uneventful postoperative course.<b>Conclusions:</b> Due to its rarity, FDCS is rarely included in the differential diagnosis of gastrointestinal spindle cell tumors. Complete surgical resection is the current gold standard of 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/bf/d0/10.1177_20363613231172077.PMC10134144.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9450501","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":"Treatment approaches for urachal cancer: Use of immunotherapy and targeted therapies.","authors":"David J Benjamin,&nbsp;Arash Rezazadeh Kalebasty","doi":"10.1177/20363613231189984","DOIUrl":"https://doi.org/10.1177/20363613231189984","url":null,"abstract":"<p><p>Urachal cancer is a rare genitourinary malignancy that arises from the embryologic remnant of the urachus. The malignancy is considered to be aggressive, with no clear consensus on appropriate management for advanced disease. Although traditionally considered to be related to bladder cancer given its embryologic origin, several next generation sequencing studies have revealed the genomic profile of this genitourinary malignancy most closely resembles colorectal cancer. Moreover, these studies have identified potentially actionable mutations including EGFR, KRAS and MET. In addition, recent data suggests that immunotherapy may benefit some patients with advanced urachal cancer. Nonetheless, continued research is warranted to better understand how to treat this rare genitourinary cancer.</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/2f/c0/10.1177_20363613231189984.PMC10350764.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10353625","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":"KEYNOTE-522 and male spindle cell carcinoma of the breast: A case report.","authors":"Harper E Niver,&nbsp;Edward Foxhall,&nbsp;Anup Lahiry","doi":"10.1177/20363613231163730","DOIUrl":"https://doi.org/10.1177/20363613231163730","url":null,"abstract":"<p><p>Metaplastic Breast Cancer (MBC) is a rare group of tumors often presenting as triple-negative. MBC accounts for less than 1% of all breast cancers with the spindle cell variant comprising less than 0.5%. While rare, spindle cell carcinoma is the commonest subtype in the western world. It has a more aggressive biological behavior with increased risk of recurrence and death due to disease compared to triple negative breast cancers. There is no treatment guideline for management of MBC due to the rarity of the disease. Instead, treatment is theorized based off success with other types of aggressive breast and metaplastic cancers of different tissue. We present the first known case report of male spindle cell carcinoma of the breast treated with KEYNOTE-522 regimen. Therapy included a first phase with pembrolizumab (dose of 200 mg) every 3 weeks plus paclitaxel and carboplatin and second phase, with four cycles of pembrolizumab with doxorubicin-cyclophosphamide.</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/3a/cd/10.1177_20363613231163730.PMC10021088.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9152989","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}