Related ArticlesThe multiple facets of the SMC1A gene. Gene. 2020 Mar 25;:144612 Authors: Musio A Abstract Structural Maintenance of Chromosomes (SMCs) are part of a large family of ring complexes that participates in a number of DNA transactions. Among SMCs, SMC1A gene is unique. It encodes a subunit of the cohesin-core complex that tethers sister chromatids together to ensure correct chromosome segregation in both mitosis and meiosis. As a member of...
Tue Mar 31, 2020 13:11
Related ArticlesA pooled analysis of risk factors of surgically treated leiomyosarcoma of the colon in adults. World J Surg Oncol. 2020 Mar 28;18(1):61 Authors: Wang Y, Wang H, Yuan ZL, Zhao JF, Dong DB, Gao Q Abstract BACKGROUND: This current systematic review aimed to evaluate the role of surgical management and risk factors by pooled cases from all identified patients with colonic leiomyosarcomas. METHODS: The authors searched the Ovid MEDLINE,...
Tue Mar 31, 2020 13:11
Related ArticlesGene of the month: GLI-1. J Clin Pathol. 2020 Apr;73(4):228-230 Authors: Chetty R Abstract The Glioma-associated homologue-1 (GLI-1) gene was first discovered to be amplified in glioblastoma multiforme. It encodes for a zinc-finger transcription factor in the Kruppel family of proteins and is important in the sonic hedgehog signalling pathway. GLI-1 also plays a role in several other pathways and is important for proliferation, migration,...
Tue Mar 31, 2020 13:11
Related ArticlesDo cancer stem cells exist? A pilot study combining a systematic review with the hierarchy-of-hypotheses approach. PLoS One. 2019;14(12):e0225898 Authors: Bartram I, Jeschke JM Abstract The phenomenon of cancer cell heterogeneity has been explained by different hypotheses, each entailing different therapy strategies. The most recent is the cancer stem cell model, which says that tumourigenicity and self-renewal are restricted to rare...
Tue Mar 31, 2020 13:11
Related ArticlesHighly specific enrichment of rare nucleic acid fractions using Thermus thermophilus argonaute with applications in cancer diagnostics. Nucleic Acids Res. 2020 02 28;48(4):e19 Authors: Song J, Hegge JW, Mauk MG, Chen J, Till JE, Bhagwat N, Azink LT, Peng J, Sen M, Mays J, Carpenter EL, van der Oost J, Bau HH Abstract Detection of disease-associated, cell-free nucleic acids in body fluids enables early diagnostics, genotyping and personalized...
Tue Mar 31, 2020 13:11
Related ArticlesAcantholytic pityriasis rubra pilaris associated with topical use of imiquimod 5%: case report and literature review. An Bras Dermatol. 2020 Jan - Feb;95(1):63-66 Authors: Leite OG, Tagliolatto S, Souza EM, Cintra ML Abstract Topical use of immune response modifiers, such as imiquimod, has increased in dermatology. Although its topical use is well tolerated, it may be associated with exacerbations of generalized cutaneous inflammatory...
Tue Mar 31, 2020 13:11
Related ArticlesUtility of FOS as diagnostic marker for osteoid osteoma and osteoblastoma. Virchows Arch. 2020 Mar;476(3):455-463 Authors: Lam SW, Cleven AHG, Kroon HM, Briaire-de Bruijn IH, Szuhai K, Bovée JVMG Abstract Osteoid osteoma and osteoblastoma are bone-forming tumors shown to harbor FOS (87%) and FOSB (3%) rearrangements. The aim was to evaluate the immunohistochemical expression of FOS and FOSB in these tumors in comparison to other bone...
Tue Mar 31, 2020 13:11
Related ArticlesCompound blue nevus: a reappraisal of the concept in the genomic era. Virchows Arch. 2020 Mar;476(3):439-443 Authors: Jaquemus J, Perron E, Buisson A, Ferrara G, Haddad V, de la Fouchardiere A Abstract We report a series of 21 compound blue nevi, a rare variant in the vast clinical and morphological spectrum of blue melanocytic proliferations. Clinically, they presented in young adults, with a slight female predominance. One-third were...
Tue Mar 31, 2020 13:11
Related ArticlesTufted angioma presenting with subclinical coagulopathy. Dermatol Online J. 2019 Sep 15;25(9): Authors: Cohen S, Anderson KL, Sangueza OP, Taylor SL Abstract Tufted angioma is a rare, benign vascular tumor of uncertain pathogenesis, characterized histopathologically by "tufts" of capillaries within the dermis. A life-threatening coagulopathy, Kasabach-Merritt phenomenon, occurs in approximately 10% of cases of tufted angioma and is characterized...
Tue Mar 31, 2020 13:11
Related ArticlesApocrine hidrocystoma on the nipple: the first report in this unusual location. Dermatol Online J. 2019 Oct 15;25(10): Authors: Magdaleno-Tapial J, Valenzuela-Oñate C, Martínez-Doménech Á, García-Legaz-Martínez M, Martínez-Aparicio A, Alegre-de Miquel V, Pérez-Ferriols A Abstract Apocrine hidrocystoma is a rare, benign, cystic tumor of the apocrine sweat glands. They are most commonly located around the eyes and may also be found on the...
Tue Mar 31, 2020 13:11
Related ArticlesPink verrucous plaque in a man with systemic mastocytosis. Dermatol Online J. 2019 Oct 15;25(10): Authors: Terrell JR, Urban JR, Fung MA, Tartar DM, Kiuru M Abstract Porokeratosis ptychotropica is a rare and commonly misdiagnosed subtype of porokeratosis involving the body folds. We present a 53-year-old man with systemic mastocytosis who presented with a pruritic, verrucous plaque in the gluteal fold that showed multiple cornoid lamellae...
Tue Mar 31, 2020 13:11
Related ArticlesFollicular spicules of multiple myeloma. Dermatol Online J. 2019 Oct 15;25(10): Authors: Smith MP, Manabat-Hidalgo C Abstract Follicular spicules are a very rare but highly characteristic cutaneous manifestation of multiple myeloma. The spicules typically appear as hyperkeratotic horns in the follicular openings of the face, most commonly on or around the nose and forehead. The pathophysiology of this condition has not been fully elucidated...
Tue Mar 31, 2020 13:11
Related ArticlesWidespread subacute cutaneous lupus erythematosus in a patient receiving checkpoint inhibitor immunotherapy with ipilimumab and nivolumab. Dermatol Online J. 2019 Oct 15;25(10): Authors: Kosche C, Owen JL, Choi JN Abstract Checkpoint inhibitor immunotherapy, including ipilimumab and nivolumab, is associated with numerous immune-related adverse events including dermatitis, pruritus, hepatitis, diarrhea, and hypophysitis. As the number...
Tue Mar 31, 2020 13:11
Related ArticlesKeratoacanthoma-like nodules as first manifestation of metastatic epithelioid trophoblastic tumor. Dermatol Online J. 2019 Oct 15;25(10): Authors: Gil F, Elvas L, Raposo S, Carvalho T, Gil J, Cardoso JC, Fernandes B Abstract Cutaneous metastases are rarely the initial manifestation of a previously undiagnosed malignancy and keratoacanthoma-like lesions are a notoriously unusual presentation pattern of cutaneous dissemination of a primary...
Tue Mar 31, 2020 13:11
Related ArticlesA challenging diagnosis of penile sarcomatoid squamous cell carcinoma. Dermatol Online J. 2019 Oct 15;25(10): Authors: Zhang S, Khosravi H, Cardis M, Jedrych J, Ho J, Bunimovich Y Abstract We report a patient with penile sarcomatoid squamous cell carcinoma (SCC) initially misdiagnosed as condyloma acuminatum. Sarcomatoid SCC is a rare, aggressive, biphasic cancer that often presents a diagnostic challenge and carries a poor prognosis,...
Tue Mar 31, 2020 13:11
Related ArticlesMiR-155 promotes anaplastic thyroid cancer progression by directly targeting SOCS1. BMC Cancer. 2019 Nov 12;19(1):1093 Authors: Zhang W, Ji W, Zhao X Abstract BACKGROUND: Anaplastic thyroid cancer (ATC) is considered to be a rare type of thyroid cancer but takes up the most important proportion of thyroid cancer-related deaths. Therefore, the development of molecular targeted therapy is an exciting strategy in the management of ATC....
Tue Mar 31, 2020 13:11
Related ArticlesAtypical marantic endocarditis. BMJ Case Rep. 2019 Nov 10;12(11): Authors: Umeojiako WI, Kasouridis I, Sargent R, Ghani S Abstract Marantic endocarditis is a rare non-infectious endocarditis that mostly affects the aortic and mitral valves. It is often an autopsy finding that is most commonly seen in advanced malignancies thought to be due to a hypercoagulable state. When diagnosed antemortem, it typically presents with signs and symptoms...
Tue Mar 31, 2020 13:11
Related ArticlesRare case of peristomal pemphigus vulgaris in an operated case of carcinoma of the rectum. BMJ Case Rep. 2019 Nov 10;12(11): Authors: Bhange SA, Bhansali M, Shaikh T, Ajgaonkar U Abstract Pemphigus vulgaris (PV), in association with malignancy of the rectum, is a very rare presentation. We present here a case of a 58-year-old woman presenting with atypical skin eruptions in the peristomal area, which gradually progressed to her entire...
Tue Mar 31, 2020 13:11
Related ArticlesMarginal zone lymphoma causing accelerated progression of chronic kidney disease. BMJ Case Rep. 2019 Nov 10;12(11): Authors: Samarasinghe A, Wong D, Cull G, Chakera A Abstract A 75-year-old man with stage IV chronic kidney disease due to type 2 diabetes mellitus, presented with increasing proteinuria and rapidly declining renal function despite excellent glycaemic control. Investigations organised to assess his suitability for renal...
Tue Mar 31, 2020 13:11
Related ArticlesPhyllodes tumour of the labia minora. BMJ Case Rep. 2019 Nov 10;12(11): Authors: Fujii DT, Korzen CA, Levine TC, Heitmann RJ Abstract A 33-year-old woman presented for a preoperative examination prior to an upcoming operative hysteroscopy. During the examination, a firm 1 cm mass in her right labia minora was noted. The mass was excised in the operating room without difficulty. Pathological examination revealed a benign phyllodes tumour...
Tue Mar 31, 2020 13:11
Related ArticlesCase of acute hepatic injury and elevated ethanol levels in a non-alcoholic adult. BMJ Case Rep. 2019 Nov 10;12(11): Authors: Albano J, Patarroyo-Aponte GD, Mahmood E Abstract Blood ethanol concentration is measured using different techniques. Gas chromatography/mass spectrometry is used in forensic laboratories to measure whole blood ethanol levels while enzyme immunoassay is often used in hospitals to measure serum or plasma ethanol...
Tue Mar 31, 2020 13:11
Related ArticlesGiant cell tumor of tendon sheath in the wrist that damaged the extensor indicis proprius tendon: a case report and literature review. BMC Cancer. 2019 Nov 06;19(1):1057 Authors: Zhao Q, Lu H Abstract BACKGROUND: Giant cell tumor of the tendon sheath (GCTTS) is a benign soft tissue (synovial membrane) tumor that rarely involves the hands or wrists. And Tendon impairment caused by GCTTS is extremely rare. CASE PRESENTATION:...
Tue Mar 31, 2020 13:11
Related ArticlesConjunctival Melanoma: Genetic and Epigenetic Insights of a Distinct Type of Melanoma. Int J Mol Sci. 2019 Oct 31;20(21): Authors: Rossi E, Schinzari G, Maiorano BA, Pagliara MM, Di Stefani A, Bria E, Peris K, Blasi MA, Tortora G Abstract Conjunctival melanoma (CjM) is a rare, primary cancer of the ocular region. Genetic and epigenetic characteristics of conjunctival melanoma have not been completely elucidated yet. Conjunctival melanoma...
Tue Mar 31, 2020 13:11
Related ArticlesIsolated testicular recurrence of B cell acute lymphoblastic leukaemia in an adult: rare case. BMJ Case Rep. 2019 10 31;12(10): Authors: Jayakrishnan T, Shaikh H, Samhouri Y, Sandhu A, Fazal S Abstract An 80-year-old man who was previously diagnosed with Philadelphia+ B cell-acute lymphoblastic leukaemia (B-ALL) in remission post-allogeneic matched unrelated donor peripheral blood stem cell transplant. Five years later, he was found...
Tue Mar 31, 2020 13:11
Related ArticlesExceptionally large, atypically located spindle cell lipoma. BMJ Case Rep. 2019 Oct 31;12(10): Authors: John M, Patel S, Joseph G Abstract Spindle cell lipomas are a rare subtype of lipoma typically occurring in the shawl region of middle-aged men with a characteristic histological appearance consisting of mature adipocytes, ropey collagen and spindle cells. Those of extraordinary size or atypical anatomic location require a proper immunohistological...
Tue Mar 31, 2020 13:11
Related ArticlesDiffuse idiopathic skeletal hyperostosis in a 33-year-old woman with PCOS and metabolic syndrome: a rare scenario. BMJ Case Rep. 2019 Oct 31;12(10): Authors: Chitten JJ, James B Abstract Diffuse idiopathic skeletal hyperostosis (DISH) is a common degenerative enthesopathy seen in the elderly with male preponderance. It is uncommon in patients before 50 years of age and is extremely rare in patients younger than 40 years. We report a...
Tue Mar 31, 2020 13:11
Related ArticlesSpontaneous rupture of a non-parasitic splenic cyst. BMJ Case Rep. 2019 Oct 30;12(10): Authors: Res LC, Knook MTT, Hazelbag HM, Guicherit OR Abstract Rupture of a non-parasitic splenic cyst is a rare but possibly dangerous complication with 21 cases described so far. We present a 46-year-old woman who presented with acute abdominal pain and was diagnosed with a spontaneous ruptured splenic cyst that was successfully treated by laparoscopic...
Tue Mar 31, 2020 13:11
Related ArticlesMulticentric malignant glioma with striking morphologic heterogeneity and early and extensive metastatic spread to the bone. Clin Neuropathol. 2019 Nov/Dec;38(6):261-268 Authors: Peter N, Roetzer T, Furtner J, Kiesel B, Herac M, Susani M, Capper D, Zimprich F, Hainfellner JA, Marosi C, Woehrer A Abstract We document the case of a young adult female patient who presented with multiple intracerebral and extracerebral bone lesions, the...
Tue Mar 31, 2020 13:11
Related ArticlesTotal esophageal replacement by transmediastinal transposition of the stomach in a gastrointestinal stromal tumor of the thoracic esophagus: a rare surgical case report. Cir Cir. 2019;87(6):682-687 Authors: Morales-Maza J, Cisneros-Correa J, Del Angel-Millán G, Rodríguez-Quintero JH, León-Cabral P, Cortés-González R Abstract Background: Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the digestive tract....
Tue Mar 31, 2020 13:11
Related ArticlesAnalysis of NTRK expression in gastric and esophageal adenocarcinoma (AGE) with pan-TRK immunohistochemistry. Pathol Res Pract. 2019 Nov;215(11):152662 Authors: Arnold A, Daum S, von Winterfeld M, Berg E, Hummel M, Horst D, Rau B, Stein U, Treese C Abstract Small molecule inhibitors such as Larotrectinib have been recently approved in the treatment of patients with fusions of the neurotrophic-tropomyosin receptor tyrosine kinase (NTRK)...
Tue Mar 31, 2020 13:11
Related ArticlesUndiagnosed Systemic Mastocytosis Presenting as Postoperative Distributive Shock: A Case Report. A A Pract. 2019 Nov 15;13(10):392-395 Authors: Ripoll JG, Ritter MJ, Comfere TB, Smith MM, Schaff HV, Gilkey GD, Warner MA Abstract Systemic mastocytosis (SM) is a rare clinical condition resulting from a clonal proliferation of abnormal mast cells. The clinical presentation may vary from mild cutaneous manifestations to aggressive systemic...
Tue Mar 31, 2020 13:11
Related ArticlesTargeted next-generation sequencing revealed distinct clinicopathologic and molecular features of VCL-ALK RCC: A unique case from an older patient without clinical evidence of sickle cell trait. Pathol Res Pract. 2019 Nov;215(11):152651 Authors: Wang XT, Fang R, Ye SB, Zhang RS, Li R, Wang X, Ji RH, Lu ZF, Ma HH, Zhou XJ, Xia QY, Rao Q Abstract Anaplastic lymphoma kinase (ALK)-rearranged renal cell carcinoma (RCC) is a novel entity of...
Tue Mar 31, 2020 13:11
Related ArticlesHistological and molecular features of solitary fibrous tumor of the extremities: clinical correlation. Virchows Arch. 2020 Mar;476(3):445-454 Authors: Bianchi G, Sambri A, Pedrini E, Pazzaglia L, Sangiorgi L, Ruengwanichayakun P, Donati D, Benassi MS, Righi A Abstract Solitary fibrous tumor is a rare mesenchymal neoplasm that exhibits a broad spectrum of biological behaviors. Few studies relative to clinical-pathologic features and...
Tue Mar 31, 2020 13:11
Related ArticlesMetastasis of carcinoma ex pleomorphic adenoma to the brain without previous metastasis to the lungs or bones: a case report. Br J Oral Maxillofac Surg. 2019 11;57(9):926-928 Authors: Yoshioka Y, Hayashi S, Hamada A, Toratani S, Okamoto T Abstract Carcinoma ex pleomorphic adenoma is a rare type of cancer of the salivary gland that involves the malignant transformation of a primary or recurrent pleomorphic adenoma, which often metastasises...
Tue Mar 31, 2020 13:11
Painful Inguinal Angiomyomatous Hamartoma Responsive to Conservative Pain Management: A Case Report.
Related ArticlesPainful Inguinal Angiomyomatous Hamartoma Responsive to Conservative Pain Management: A Case Report. A A Pract. 2019 Nov 15;13(10):373-375 Authors: Woolley CA, Oswald J, Chen J Abstract Angiomyomatous hamartoma (AMH) is a rare and benign mixed-tissue tumor of the lymphatic system. The majority of AMH tumors are removed surgically for cosmetic reasons or during workup of lymphadenopathy. There are few reported cases of this condition...
Tue Mar 31, 2020 13:11
Related ArticlesSynchronous identification of a dysembryoplastic neuroepithelial tumor (DNET) and an oligodendroglioma in a patient: A case report. Clin Neuropathol. 2019 Nov/Dec;38(6):269-275 Authors: Ravanpay AC, Gabikian P, Marshall D, Williams JR, Huber B, Silbergeld DL Abstract Synchronous gliomas of different histopathology are quite rare in non-syndromic, non-irradiated patients. Although "mixed" gliomas are not infrequent, and malignant gliomas...
Tue Mar 31, 2020 13:11
Related ArticlesCase of endobronchial metastasis from breast cancer accompanied with Cunninghamella bertholletiae tracheobronchial mycetoma. J Infect Chemother. 2019 Dec;25(12):1065-1069 Authors: Uno K, Hishiya N, Matsuda M, Kai Y, Amano M, Nakamura A, Tohjyo T, Kawaguchi T, Nakano R, Yano H, Kasahara K, Mikasa K Abstract Cunninghamella is a member of the class Zygomycetes. Cunninghamella species include ubiquitous filamentous fungi; infections caused...
Tue Mar 31, 2020 13:11
Related ArticlesOvarian primary primitive neuroectodermal tumor: a review of cases at PUMCH and in the published literature. Orphanet J Rare Dis. 2019 06 19;14(1):147 Authors: Chao X, Bi Y, Li L Abstract BACKGROUND: The pathological characteristics, treatment strategies and prognosis of ovarian primary primitive neuroectodermal tumor (PNET) were unclear due to the rarity of PNET. All cases treated at Peking Union Medical College Hospital (PUMCH) between...
Tue Mar 31, 2020 13:11
Related ArticlesFactors associated with positive and negative recommendations for cancer and non-cancer drugs for rare diseases in Canada. Orphanet J Rare Dis. 2019 06 07;14(1):127 Authors: Nagase FNI, Stafinski T, Sun J, Jhangri G, Menon D Abstract BACKGROUND: In Canada, reimbursement recommendations on drugs for common and rare diseases are overseen by the Canadian Agency for Drugs and Technologies in Health (CADTH) and made through the pan-Canadian...
Tue Mar 31, 2020 13:11
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