Related Articles [Gaucher disease]. Rev Prat. 2020 Apr;70(4):416-420 Authors: Nguyen Y, Stirnemann J, Belmatoug N Abstract Gaucher disease. Gaucher disease is a rare lysosomal autosomal recessive disease, caused by a deficiency of glucocerebrosidase, a lysosomal enzyme. The most frequent symptoms are cytopenia, splenomegaly, hepatomegaly, and potentially severe bone involvement (bone infarcts, avascular osteonecrosis, and pathological fractures)....
Thu Sep 03, 2020 21:20
Related Articles What 20 years of research has taught us about the TP53 p.R337H mutation. Cancer. 2020 Aug 17;: Authors: Pinto EM, Zambetti GP Abstract The p53 tumor suppressor transcriptionally regulates a myriad of genes involved in cell cycle control, DNA repair, cell survival, and cell metabolism and represents one of the most well-studied inhibitors of tumorigenesis. Since the discovery of TP53 in 1979, somatic mutations have been shown...
Thu Sep 03, 2020 21:20
Related Articles Uterine lipoma: A case report. Case Rep Womens Health. 2020 Oct;28:e00247 Authors: Chan N, Vythianathan M Abstract Uterine lipomas are a rare benign gynaecological tumour of uncertain histogenesis. Clinically, a uterine lipoma may be mistaken for leiomyoma or a malignant tumour. Radiological findings may be suggestive but can also often be inconclusive. However, it has a distinctive appearance on histopathological examination....
Thu Sep 03, 2020 21:20
Related Articles Gone but Not Forgotten: Ovarian Metastasis From a Colon Carcinoma in a 19-Year-Old Female. Cureus. 2020 Jul 29;12(7):e9466 Authors: Almas T, Ullah M, Kaneez M, Zaidi SMJ, Khan MK Abstract Ovarian tumors occurring secondarily to metastatic colorectal carcinoma remain a rare occurrence. Since ovarian tumors remain predominantly asymptomatic in the initial stages, they are often diagnosed incidentally. The vague, non-specific...
Thu Sep 03, 2020 21:20
Related Articles Oversized primary intrapulmonary schwannoma: A case report and a review of the literature. Surg Neurol Int. 2020;11:234 Authors: Zarei S, Popa A, Moghadam B, Reddy A, Mahmoud A Abstract Background: Schwannomas, also known as neurilemommas, are benign, well-circumscribed encapsulated peripheral nerve sheath tumors with rather indolent evolution. Made up of cells closely related to normal myelinating Schwann cells, these neoplasms...
Thu Sep 03, 2020 21:20
Related Articles Therapeutic options for primary meningeal angiosarcoma: A case report. Surg Neurol Int. 2020;11:204 Authors: Melguizo-Gavilanes I, Snipes G, Rodríguez-Márquez I, Duarte-Jurado L, Jaramillo-Jiménez E Abstract Background: Primary angiosarcoma (AS) of the central nervous system (PACNS) is an extremely rare malignancy. The meninges represent an uncommon site of origin of PACNS. This report describes a recurrent meningeal PACNS...
Thu Sep 03, 2020 21:20
Related Articles Granuloma Annulare, a Possible Paradoxical Reaction of the Adalimumab Treatment in a Severe Case of Psoriasis Vulgaris. Curr Health Sci J. 2020 Apr-Jun;46(2):203-206 Authors: MĂrculescu F, PĂtraȘcu V, Tutunaru CV, Ochiana L Abstract Granuloma annulare (GA) is a benign chronic inflammatory dermatosis, self-limited, slightly pruritic or asymptomatic in the majority of the cases, with specific clinically and histologically features,...
Thu Sep 03, 2020 21:20
Related Articles Two primary cancers: Primary squamous cell carcinoma with extensive ichthyosis uteri and cervical endometrioid carcinoma: A case report. Mol Clin Oncol. 2020 Nov;13(5):44 Authors: Akizawa Y, Yamamoto T, Kanno T, Horibe Y, Odaira K, Abe Y, Nagashima Y, Tabata T Abstract Squamous cell carcinoma of the endometrium is extremely rare, accounting for approximately 1% of uterine body malignancies. The present report describes a case...
Thu Sep 03, 2020 21:20
Related Articles Carcinoid tumor of the anterior mediastinum in a 38-year-old woman. Radiol Case Rep. 2020 Oct;15(10):2018-2021 Authors: Abelian K, Akano OI, Penha D, Guedes-Pinto E, Ntouskou M Abstract Mediastinal neuroendocrine tumors (NETs) are very rare. They have been estimated to account for approximately 2%-4% of all anterior mediastinal neoplasms. Carcinoid tumors are a type of NET that can occur in a number of locations. They arise...
Thu Sep 03, 2020 21:20
Related Articles Custom pyrosequencing assay to detect short BRAF deletions in Langerhans cell histiocytic lesions. J Clin Pathol. 2020 Sep 01;: Authors: Jouenne F, Sadoux A, Lorillon G, Louveau B, Bugnet E, Meignin V, Mourah S, Tazi A Abstract Langerhans cell histiocytosis (LCH) is a rare inflammatory myeloid neoplastic disease driven by activating mutations in the mitogen-activating protein kinase signalling pathway, including the BRAF V600E...
Thu Sep 03, 2020 21:20
Related Articles The Potential of Steroid Profiling by Mass Spectrometry in the Management of Adrenocortical Carcinoma. Biomedicines. 2020 Aug 28;8(9): Authors: Rossi C, Cicalini I, Verrocchio S, Di Dalmazi G, Federici L, Bucci I Abstract Radiological and endocrinological work up of adrenal neoplasms is aimed at distinguishing between frequent non-functioning adenomas and rare but very aggressive adrenocortical carcinoma (ACC). Relevant research...
Thu Sep 03, 2020 21:20
Related Articles Aggressive variant of splenic marginal zone lymphoma characterized using a cancer panel test and treated with rituximab-containing chemotherapy: A case report. Medicine (Baltimore). 2020 Aug 28;99(35):e21938 Authors: Ishiguro K, Sasaki Y, Takagi Y, Niinuma T, Suzuki H, Tokino T, Hayashi T, Takahashi T, Igarashi T, Matsuno Y Abstract RATIONALE: Aggressive variant of splenic marginal zone lymphoma (AV-SMZL) is a very rare disease...
Thu Sep 03, 2020 21:20
Related Articles A Case Series of BCOR Sarcomas With a New Splice Variant of BCOR/CCNB3 Fusion Gene. In Vivo. 2020 Sep-Oct;34(5):2947-2954 Authors: Kyriazoglou A, Tourkantoni N, Liontos M, Zagouri F, Mahaira L, Papakosta A, Michali D, Patereli A, Stefanaki K, Tzotzola V, Skoura E, Baka M, Polychronopoulou S, Kattamis A, Dimitriadis E Abstract BACKGROUND/AIM: Undifferentiated round cell sarcomas are a heterogeneous group of sarcomas. Identification...
Thu Sep 03, 2020 21:20
Related Articles Maxillary Ameloblastoma: A Review With Clinical, Histological and Prognostic Data of a Rare Tumor. In Vivo. 2020 Sep-Oct;34(5):2249-2258 Authors: Evangelou Z, Zarachi A, Dumollard JM, Peoc'h M, Komnos I, Kastanioudakis I, Karpathiou G Abstract Diagnosis of odontogenic tumors can be challenging due to their rarity and diverse morphology, but when arising near the tooth, the diagnosis could be suspected. When their location is...
Thu Sep 03, 2020 21:20
Related Articles Facilitating timely cancer care in a surgical oncology subspecialty unit during the pandemic and recovery phase of the COVID era. Asian J Surg. 2020 Sep;43(9):965-966 Authors: Ong CJ, Lim HJ, Tan JW, Wong JSM, Lim ST, Kwek JW, Tan HK, Hwang WYK, Chia CS PMID: 32713751 [PubMed - indexed for MEDLINE]
Thu Sep 03, 2020 21:20
Related Articles A hook wire sliding into pulmonary artery and being extracted under DSA: a case report about a rare complication associated with lung nodule localization. J Cardiothorac Surg. 2020 Apr 19;15(1):63 Authors: Song X, Li J, Wang D Abstract BACKGROUND: CT-guided hook wire has been recognized to be a safe and effective percutaneous localizer to identify small pulmonary lesions with ground-glass opacity (GGO) component, while several...
Thu Sep 03, 2020 21:20
Related Articles Paediatric meningiomas in Singapore - Case series of a rare entity. J Clin Neurosci. 2020 Mar;73:62-66 Authors: Thevandiran D, Nga V, Chang KTE, Ng LP, Seow WT, Low DCY, Yeo TT, Low SYY Abstract Paediatric meningiomas are extremely rare. These tumours constitute only 2 to 3% of all childhood brain tumours. Despite similarities in histological features between PMs and their adult counterparts, there are important distinctions...
Thu Sep 03, 2020 21:20
Related Articles Incidental sonographic detection of bladder cancer in a woman with large uterine fibroids: significance and lessons learned. Clin Imaging. 2020 May;61:1-3 Authors: Soliman MM, Cornman-Homonoff J, Schiffman MH Abstract Uterine leiomyomas are the most common solid pelvic tumors in pre-menopausal women and typically present with abnormal uterine bleeding and/or symptoms of mass effect. A potential consequence of the space-occupying...
Thu Sep 03, 2020 21:20
Related Articles Aggressive Inflammatory Myofibroblastic Tumor without Anaplastic Lymphoma Kinase Gene Rearrangement in the Rectum with Liver Metastasis. Intern Med. 2020 Feb 15;59(4):495-499 Authors: Shimodaira Y, Sugawara K, Fukuda S, Suzuki Y, Watanabe N, Koizumi S, Ohba R, Hiroshima Y, Matsuhashi T, Nanjo H, Iijima K Abstract Inflammatory myofibroblastic tumor is a rare intermediate-grade tumor. We herein report the case of an 81-year-old...
Thu Sep 03, 2020 21:20
Related Articles Resistance of t(17;19)-acute lymphoblastic leukemia cell lines to multiagents in induction therapy. Cancer Med. 2019 Sep;8(11):5274-5288 Authors: Watanabe A, Inukai T, Kagami K, Abe M, Takagi M, Fukushima T, Fukushima H, Nanmoku T, Terui K, Ito T, Toki T, Ito E, Fujimura J, Goto H, Endo M, Look T, Kamps M, Minegishi M, Takita J, Inaba T, Takahashi H, Ohara A, Harama D, Shinohara T, Somazu S, Oshiro H, Akahane K, Goi K, Sugita K Abstract...
Thu Sep 03, 2020 21:20
Related Articles Clinical benefit of methotrexate plus vinorelbine chemotherapy for desmoid fibromatosis (DF) and correlation of treatment response with MRI. Cancer Med. 2019 Sep;8(11):5047-5057 Authors: Ingley KM, Burtenshaw SM, Theobalds NC, White LM, Blackstein ME, Gladdy RA, Thipphavong S, Gupta AA Abstract BACKGROUND: Desmoid fibromatosis (DF) is a rare fibroblastic proliferation that was historically treated with surgery. We report (a)...
Thu Sep 03, 2020 21:20
Related Articles Gastrointestinal: Diffuse esophageal lymphangiomatosis manifesting as multiple submucosal masses. J Gastroenterol Hepatol. 2020 Feb;35(2):177 Authors: Cao D, Wang J, Guo L PMID: 31257637 [PubMed - indexed for MEDLINE]
Thu Sep 03, 2020 21:20
Related Articles Evaluation of the mechanisms and effects of Mg-Ag-Y alloy on the tumor growth and metastasis of the MG63 osteosarcoma cell line. J Biomed Mater Res B Appl Biomater. 2019 11;107(8):2537-2548 Authors: Dai Y, Tang Y, Xu X, Luo Z, Zhang Y, Li Z, Lin Z, Zhao S, Zeng M, Sun B, Cheng L, Zhu J, Xiong Z, Long H, Zhu Y, Yu K Abstract Osteosarcoma is a malignant primary bone tumor, which often associates with pulmonary metastasis. The...
Thu Sep 03, 2020 21:20
Related Articles Chronic Non-bacterial Osteomyelitis: A Review. Calcif Tissue Int. 2019 05;104(5):544-553 Authors: Buch K, Thuesen ACB, Brøns C, Schwarz P Abstract Chronic non-bacterial osteomyelitis (CNO) is a rare auto-inflammatory bone disorder, with a prevalence of around one in a million patients. In the more severe form, it is referred to as chronic recurrent multifocal osteomyelitis (CRMO). We present the current knowledge on epidemiology,...
Thu Sep 03, 2020 21:20
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