Rare Tumors最新文献_第5页

The enigmatic ear: Unveiling a rare case of a primary cutaneous CD8+ acral T-cell lymphoproliferative disorder with a literature review. 神秘的耳朵：揭示一例罕见的原发性皮肤CD8+肢端T细胞淋巴增生性疾病的文献综述。

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Rare Tumors Pub Date : 2023-09-22 eCollection Date: 2023-01-01 DOI: 10.1177/20363613231204046

Ghada Sahraoui, Farah Sassi, Lamia Charfi, Raoudha Doghri, Karima Mrad

{"title":"The enigmatic ear: Unveiling a rare case of a primary cutaneous CD8+ acral T-cell lymphoproliferative disorder with a literature review.","authors":"Ghada Sahraoui, Farah Sassi, Lamia Charfi, Raoudha Doghri, Karima Mrad","doi":"10.1177/20363613231204046","DOIUrl":"10.1177/20363613231204046","url":null,"abstract":"Introduction: Primary cutaneous CD8+ acral T-cell lymphoproliferative disorder (CD8+ ATCLPD) is a rare form of cutaneous T-cell lymphoma that commonly presents on the acral regions of the body. We report a case of a 61-year-old man diagnosed with primary cutaneous CD8+ ATCLPD of the ear. Case presentation: A 61-year-old man presented with a non-healing, erythematous painful macule on the ear that had been evolving for the past 3 months. The lesion was resected, and histopathological examination revealed a primary cutaneous CD8+ ATCLPD with acral localization. Further investigations including CT scan of the thorax, abdomen and pelvis were done to stage the disease. The results showed no extracutaneous involvement. Conclusion: Accurate identification of primary cutaneous CD8+ ATCLPD is crucial due to its distinct prognostic and therapeutic implications compared to other CD8+ cytotoxic lymphoid proliferations. Primary cutaneous CD8+ ATCLPD can be treated conservatively and typically follows a slow clinical course, regardless of the treatment method. Understanding the clinical context, as well as the morphological and immunophenotypic characteristics, can assist in making a precise diagnosis.","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"15 ","pages":"20363613231204046"},"PeriodicalIF":0.9,"publicationDate":"2023-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b3/87/10.1177_20363613231204046.PMC10517602.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41153089","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}

引用次数: 0

Teratocarcinosarcoma of the head and neck: Clinicopathologic review of a rare entity. 头颈部畸胎瘤肉瘤：一种罕见实体的临床病理回顾。

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Rare Tumors Pub Date : 2023-09-21 eCollection Date: 2023-01-01 DOI: 10.1177/20363613231204047

Rana S Al-Zaidi

引用次数: 0

Recurrent pineal parenchymal tumor of intermediate differentiation with intratumoral hemorrhage: A case report and review of the literature. 复发性中等分化松果体实质肿瘤合并瘤内出血1例并文献复习。

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Rare Tumors Pub Date : 2023-01-01 DOI: 10.1177/20363613231177537

Yu-Li Chen, Li-Hsin Tai, Ann-Shung Lieu

{"title":"Recurrent pineal parenchymal tumor of intermediate differentiation with intratumoral hemorrhage: A case report and review of the literature.","authors":"Yu-Li Chen, Li-Hsin Tai, Ann-Shung Lieu","doi":"10.1177/20363613231177537","DOIUrl":"https://doi.org/10.1177/20363613231177537","url":null,"abstract":"Pineal apoplexy is a rare clinical condition. Its common symptoms include headaches, nausea, vomiting, ataxia, and gaze paralysis. These symptoms are mainly caused by obstructive hydrocephalus or direct compression of the cerebellum or midbrain. There have been no previous reports on the development of a recurrent pineal parenchymal tumor of intermediate differentiation (PPTID) with intratumoral hemorrhage. We report a case of PPTID with intratumoral hemorrhage. A 44-year-old woman developed recurrent PPTID following tumor removal and ventriculoperitoneal shunting in 2010. She visited the emergency department in April 2021 for sudden-onset dizziness and generalized weakness. Blurring of vision occurred and progressed over the previous month. Neurological examination revealed upward conjugate gaze paralysis. Brain computed tomography revealed a hyperdense lesion in the pineal region, and a recurrent tumor with hemorrhage was suspected. Magnetic resonance imaging of the brain confirmed a pineal tumor with intratumoral hemorrhage. The pineal tumor and hematoma were surgically removed via the suboccipital transtentorial approach. The patient was discharged from the hospital 2 weeks after the surgery. The pathological findings were consistent with the diagnosis of recurrent PPTID. PPTID is a rare tumor, accounting for less than 0.1% of primary central nervous system tumors. Pineal apoplexy is rare, and its incidence and clinical significance remain unclear. There have only been nine reported cases of pineal apoplexy, associated with pineal parenchymal tumors. The recurrence of PPTID with apoplectic hemorrhage after 10 years has not been reported. Despite its rarity, PPTID with apoplexy should be considered in patients with PPTID who develop sudden-onset neurological symptoms.","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"15 ","pages":"20363613231177537"},"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/b1/76/10.1177_20363613231177537.PMC10201390.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10350373","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}

引用次数: 1

Axillary chest wall solid-papillary carcinoma: A case report on presentation and management. 腋窝胸壁实体乳头状癌1例表现及处理。

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Rare Tumors Pub Date : 2023-01-01 DOI: 10.1177/20363613231155957

Harper E Niver, Priscilla Strom

引用次数: 0

Epithelioid hemangioendothelioma of the distal lower extremity and the role of radiotherapy: A report of two cases. 下肢远端上皮样血管内皮瘤及放疗的作用:附2例报告。

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Rare Tumors Pub Date : 2023-01-01 DOI: 10.1177/20363613231172611

Robin Go, Linus Lee, Gayathri Vijayakumar, Sarah Tepper, Steven Gitelis, Alan Blank

引用次数: 0

Unusual cause of mediastinal tumor: A case of calcified pericardial cyst. 纵隔肿瘤的不寻常病因:钙化心包囊肿1例。

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Rare Tumors Pub Date : 2023-01-01 DOI: 10.1177/20363613231177539

S M Tajdit Rahman, Mofizur Rhaman Mia, Mohammad Anamul Hoque, Sanghita Banik Proma

引用次数: 0

A qualitative study to assess the psychological experiences and coping strategies of families affected with Li-Fraumeni syndrome in the Indian population. 一项定性研究评估心理经验和应对策略的家庭与李-弗劳梅尼综合征在印度人口。

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Rare Tumors Pub Date : 2023-01-01 DOI: 10.1177/20363613231186300

Poonam Joshi, Sunidhi Bhandari, Ajesh Tk, Simran Kaur, Rachna Bhargava, Ghazal Tansir, Sameer Rastogi

{"title":"A qualitative study to assess the psychological experiences and coping strategies of families affected with Li-Fraumeni syndrome in the Indian population.","authors":"Poonam Joshi, Sunidhi Bhandari, Ajesh Tk, Simran Kaur, Rachna Bhargava, Ghazal Tansir, Sameer Rastogi","doi":"10.1177/20363613231186300","DOIUrl":"https://doi.org/10.1177/20363613231186300","url":null,"abstract":"Background: Li-Fraumeni syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome. Due to the high risk of occurrence of multiple cancers, families with LFS may have an overwhelming psychosocial burden. Methods: This cross-sectional study was conducted at a tertiary care center using face-to-face interviews through a grounded theory approach. Statistical analysis was done using Smith's Interpretative Phenomenological Approach. Themes and sub-themes were extracted, and a thematic schema was developed. Results: A total of five themes were identified. The extracted themes were psychological experiences, behavioural responses, stressors, coping strategies and perceived needs. The interlay of the themes deepened the impact of LFS on the affected ones and brought into light the turmoil of emotions and difficulties that these individuals were going through in the face of the disease. Conclusions: LFS-affected individuals had a range of experiences with this rare and little-known disease. The lack of information seems to be a precursor to the denial of diagnosis. Their experience with the illness sheds light on the grey areas like guilt and helplessness that demand immediate attention. Future policies need to be developed in accordance with the identified perceived needs to potentially guide the treatment and rising needs of LFS-affected individuals.","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"15 ","pages":"20363613231186300"},"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/ed/10.1177_20363613231186300.PMC10327410.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10292272","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}

引用次数: 0

Posterior fossa giant adenoid cystic carcinoma with skull base invasion mimicking glomus jugulare: A case report and review of literature. 后窝巨大腺样囊性癌伴颅底侵犯模拟颈静脉球:1例报告及文献复习。

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Rare Tumors Pub Date : 2023-01-01 DOI: 10.1177/20363613221150218

Anand Kumar Das, Saraj Kumar Singh, Kranti Bhavana, Subhash Kumar

{"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, Saraj Kumar Singh, Kranti Bhavana, Subhash Kumar","doi":"10.1177/20363613221150218","DOIUrl":"https://doi.org/10.1177/20363613221150218","url":null,"abstract":"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.","PeriodicalId":46078,"journal":{"name":"Rare Tumors","volume":"15 ","pages":"20363613221150218"},"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}

引用次数: 0

Nirogacestat and its potential impact on desmoid tumor. 硝加司他及其对硬纤维瘤的潜在影响。

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Rare Tumors Pub Date : 2023-01-01 DOI: 10.1177/20363613231182485

Samia Rohail, Areeba Fareed, Muskaan Asim Taimuri, Alishba Adnan

{"title":"Nirogacestat and its potential impact on desmoid tumor.","authors":"Samia Rohail, Areeba Fareed, Muskaan Asim Taimuri, 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":"15 ","pages":"20363613231182485"},"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}

引用次数: 0

PARP inhibition utilized in combination therapy with Olaparib-Temozolomide to achieve disease stabilization in a rare case of BRCA1-mutant, metastatic myxopapillary ependymoma. 在罕见的brca1突变、转移性黏液乳头状室管膜瘤病例中，利用PARP抑制与奥拉帕尼-替莫唑胺联合治疗实现疾病稳定。

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Rare Tumors Pub Date : 2023-01-01 DOI: 10.1177/20363613231152333

Preethika Mahalingam, Sam Smith, Juanita Lopez, Rajaei K Sharma, Thomas Millard, Khin Thway, Cyril Fisher, David A Reardon, Robin Jones, Andrew G Nicholson, David Cunningham, Liam Welsh, Bhupinder Sharma

引用次数: 2