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https://www.readbyqxmd.com/read/28323777/msh6-past-and-present-and-muir-torre-syndrome-connecting-the-dots
#1
Meera Mahalingam
Sebaceous neoplasms such as adenoma, sebaceoma, and carcinoma, although sporadic in their occurrence, are clinically significant because of their association with Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous neoplasms and/or keratoacanthomas and visceral malignancies. MTS is usually the result of germline mutations in the DNA mismatch repair genes MSH2 and, albeit less commonly, MLH1. Although less know, MSH6 is yet another key player...
April 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28323651/clinical-features-and-treatment-of-dermatofibrosarcoma-protuberans-affecting-the-vulva-a-literature-review
#2
Austin H Nguyen, Shannon Q Detty, Maria I Gonzaga, Christopher Huerter
BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a low-to-intermediate grade cutaneous neoplasm with a low propensity for metastasis and a high rate of local recurrence. It typically presents as a dermal plaque or nodule on the trunk, limbs, or head and neck region. Vulvar DFSP has also been described, although it is less common. OBJECTIVE: To review the available literature and discuss the clinical course of DFSP affecting the vulva. MATERIALS AND METHODS: We reviewed the existing English-language literature on DFSP of the vulva with respect to clinical presentation, diagnosis, treatment, and outcome...
March 17, 2017: Dermatologic Surgery: Official Publication for American Society for Dermatologic Surgery [et Al.]
https://www.readbyqxmd.com/read/28318763/pancreatic-carcinosarcoma-a-case-report-highlighting-computed-tomography-characteristics
#3
Steven Mszyco, Leslie Teng, Joseph Annunziata, Matthew S Hartman
Primary pancreatic carcinosarcoma is a rare and malignant neoplasm arising within the pancreas. With fewer than a dozen cases ever reported, the recognition and treatment of this rare phenomenon can be difficult. We describe the case of an 85-year-old man who presented with vague right upper quadrant and epigastric abdominal pain and was found to have a pancreatic mass on ultrasound and computed tomography. The patient underwent open pancreaticoduodenectomy and was found to have pancreatic carcinosarcoma on microscopic evaluation...
January 27, 2017: Current Problems in Diagnostic Radiology
https://www.readbyqxmd.com/read/28317590/radical-appendectomy-as-an-alternative-to-right-colon-resection-in-patients-with-epithelial-appendiceal-neoplasms
#4
Santiago González-Moreno, Paul H Sugarbaker
OBJECTIVE: Appendectomy is an extremely common surgical procedure usually performed for an inflammatory process within this organ. Upon occasion, the pathology within the appendix is a neoplastic process which requires definitive oncologic management. METHODS: The optimal management strategies for appendiceal neoplasms were reviewed and pertinent literature critically evaluated. The technology for appendectomy for an inflammatory process and an appendectomy for a neoplastic process were compared and contrasted...
March 2017: Surgical Oncology
https://www.readbyqxmd.com/read/28315422/sfpq-psf-tfe3-renal-cell-carcinoma-rcc-a-clinicopathologic-study-emphasizing-extended-morphology-and-reviewing-the-differences-between-sfpq-tfe3-rcc-and-the-corresponding-mesenchymal-neoplasm-despite-an-identical-gene-fusion
#5
Xiao-Tong Wang, Qiu-Yuan Xia, Hao Ni, Sheng-Bing Ye, Rui Li, Xuan Wang, Shan-Shan Shi, Xiao-Jun Zhou, Qiu Rao
Xp11 translocation renal cell carcinoma (RCC) with SFPQ/PSF-TFE3 gene fusion is a rare epithelial tumor. Of note, the appearance of the gene fusion does not necessarily mean that it is renal cell carcinoma. The corresponding mesenchymal neoplasms, including Xp11 neoplasm with melanocytic differentiation, TFE3 rearrangement-associated perivascular epithelioid cell tumor (PEComa) and melanotic Xp11 translocation renal cancer, can also harbor the identical gene fusion. However, the differences between Xp11 translocation RCC and the corresponding mesenchymal neoplasm have only recently been described...
March 14, 2017: Human Pathology
https://www.readbyqxmd.com/read/28314970/-is-surgical-treatment-ever-indicated-in-metastatic-renal-cell-carcinoma-and-if-so-based-on-which-scientific-rationale
#6
M Burger
BACKGROUND: Metastasis is a common event in renal cell carcinoma. Surgical resection of metastases may be feasible in two scenarios: aiming at palliation, which may be feasible due to reduced radiosensitivity of renal cell cancer, and aiming at prolonging survival, which may be feasible given the rather good prognosis of some patterns of metastasis. OBJECTIVE: This review intends to reflect on current evidence for surgical resection of metastases in both scenarios...
March 17, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28314901/arterial-pseudoaneurysms-of-the-shoulder-mimicking-other-entities-utilization-of-pulsation-artifact-on-musculoskeletal-mr-for-accurate-diagnosis-in-2-cases
#7
Mohammad Samim, Jacob Mandell, Stacy Smith, Neena Kapoor, Gregory Czuczman
We present two cases of pseudoaneurysm (PSA) about the shoulder mimicking more common clinical entities-soft tissue neoplasm and septic arthritis-for which biopsy of the mass and joint aspiration were requested respectively. We review the imaging findings of PSA with emphasis on findings in musculoskeletal protocol MRI, including the identification of pulsation artifact in both cases, which was critical to establishing the correct diagnosis. In the proper clinical setting, with imaging findings demonstrating a complex mass or fluid collection, MR images should be scrutinized for the presence of pulsation artifact, which can help diagnose a high-flow vascular lesion and avoid a potentially harmful invasive procedure such as biopsy...
March 18, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28314252/clinical-target-volume-in-biliary-carcinoma-a-systematic-review-of-pathological-studies
#8
REVIEW
Ilaria Marinelli, Alessandra Guido, Lorenzo Fuccio, Andrea Farioli, Valeria Panni, Lucia Giaccherini, Alessandra Arcelli, Giorgio Ercolani, Giovanni Brandi, Silvia Cammelli, Andrea Galuppi, Gabriella Macchia, Rezarta Frakulli, Gian C Mattiucci, Francesco Cellini, Milly Buwenge, Matteo Renzulli, Francesco Deodato, Savino Cilla, Vincenzo Valentini, Vincenzo Tombolini, Rita Golfieri, Alessio G Morganti
BACKGROUND/AIM: Radiotherapy is a treatment option for both adjuvant and neo-adjuvant settings for biliary tract cancer. Guidelines on the delineation of the target volume of lymph nodes are lacking; only generic indications are available, without specific recommendations for different primary tumour locations (e.g. intrahepatic, extrahepatic biliary tract or gallbladder cancer). The aim of this study was to systematically review available literature to provide recommendations on lymph node target volume delineation in patients with unresectable biliary tumour...
March 2017: Anticancer Research
https://www.readbyqxmd.com/read/28314213/primary-intracardiac-leiomyoma-arising-from-cardiomyocyte-progenitors-at-the-right-ventriculoseptal-interface-case-report-with-literature-review
#9
Kavita Gaur, Kaushik Majumdar, Navnita Kisku, Ranjana Gondal, Puja Sakhuja, Deepak Kumar Satsangi
Primary cardiac neoplasms are rare and are usually benign myxomas and rhabdomyomas. Cardiac leiomyomas are usually seen as a part of the spectrum of intravenous leiomyomatosis or benign metastasizing leiomyoma. De novo occurrence of primary intracardiac leiomyomas (PICL) is a rarity. Herein we describe a 14-year-old boy presenting with intermittent dyspnea for 2 years, with a large right ventricular mass suggestive of myxoma on transthoracic echocardiography, without any extracardiac lesions. Histology and immunohistochemistry of the tumor excised under cardiopulmonary bypass confirmed a PICL arising at the cardiomyocyte-smooth muscle septal interface...
March 9, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28302385/primary-cutaneous-interdigitating-dendritic-cell-sarcoma-is-a-morphologic-and-phenotypic-simulator-of-poorly-differentiated-metastatic-melanoma-a-report-of-2-cases-and-review-of-the-literature
#10
REVIEW
Cynthia M Magro, Luke C Olson, Gerard Nuovo, Garron J Solomon
Interdigitating dendritic cell sarcoma (IDS) is a rare form of hematologic malignancy associated with an aggressive clinical course. Only 4 prior cases have been described as originating in the skin. We encountered two male patients ages 47 and 61years of age who presented with solitary cutaneous neoplasms diagnosed as IDS. Histologic exam showed a coalescing nested and multinodular proliferation of large pleomorphic epithelioid cells. In one case an initial diagnosis of melanoma was rendered. A recurrence 8months later was then interpreted as a primary cutaneous IDS...
February 20, 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28302046/the-role-of-the-complex-usp1-wdr48-in-differentiation-and-proliferation-processes-in-cancer-stem-cells
#11
Jussara Maria Gonçalves, Mabel Mariela Rodriguez Cordeiro, Elena Riet Correa Rivero
Recently some studies identified the Basic-Helix-Loop-Helix (bHLH) transcription factor as a significant regulator for the evolution of neoplasms. The binding between bHLH proteins and DNA is restricted by heterodimerization with Inhibitors of DNA binding (ID). IDs prevent cellular differentiation, promote growth and sustain tumor development. The wide presence of stem cells in cancers suggests that genes ID are essential to cancer stem cells (CSC) progress. The enzyme Ubiquitin-specific protease 1 (USP1) is reported by deubiquitination and stabilization of IDs...
March 15, 2017: Current Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/28301836/long-term-remission-following-autologous-hematopoietic-cell-transplantation-in-a-patient-with-multiple-nonleukemic-myeloid-sarcoma-and-a-review-of-the-literature
#12
Yun Liang, Jie Gao, Dan Wu, Shu Li, Hang Chen, Luyin Ding, Jiefeng Tong, Yang Xu
Multiple nonleukemic myeloid sarcoma (MS) is a rare form of MS that is developed in multiple anatomic sites other than bone marrow at diagnosis, without a preceding myeloid neoplasm. The prevalence, prognosis, and optimal management of multiple nonleukemic MS have not been addressed. The role of allogenic or autologous hematopoietic cell transplantation (HCT) for nonleukemic MS is also less well defined. We present a case of MS characterized by systemic lymphadenopathies and multiple effusions, which presumably had a very poor prognosis...
March 17, 2017: Acta Haematologica
https://www.readbyqxmd.com/read/28301225/optimal-diagnostic-yield-achieved-with-on-site-pathology-evaluation-of-fine-needle-aspiration-assisted-core-biopsies-for-pediatric-osseous-lesions-a-single-center-experience
#13
Kalyani Patel, Darryl Kinnear, Norma M Quintanilla, John Hicks, Eumenia Castro, Choladda Curry, John Dormans, Daniel J Ashton, J Alberto Hernandez, Hao Wu
CONTEXT: - Image-guided, fine-needle aspiration-assisted core needle biopsy with an on-site evaluation by a pathologist (FNACBP) of osseous lesions is not a common practice in pediatric institutions. OBJECTIVES: - To evaluate the diagnostic adequacy and accuracy of FNACBP for pediatric osseous lesions and to compare the adequacy with procedures that do not use fine-needle aspiration. DESIGN: - Six-year, retrospective review of 144 consecutive children biopsied for osseous lesions with and without fine-needle aspiration assistance...
March 16, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28300891/lichen-planopilaris-like-eruption-during-treatment-with-tyrosine-kinase-inhibitor-nilotinib
#14
Juliana Ribeiro Leitão, Neusa Yuriko Sakai Valente, Priscila Kakizaki, Isis Suga Veronez, Mario Cezar Pires
Tyrosine kinase inhibitors are effective as a target therapy for malignant neoplasms. Imatinib was the first tyrosine kinase inhibitor used. After its introduction, several other drugs have appeared with a similar mechanism of action, but less prone to causing resistance. Even though these drugs are selective, their toxicity does not exclusively target cancer cells, and skin toxicity is the most common non-hematologic adverse effect. We report an eruption similar to lichen planopilaris that developed during therapy with nilotinib, a second generation tyrosine kinase inhibitor, in a patient with chronic myeloid leukemia resistant to imatinib...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28299760/uterine-sarcomas-the-latest-approaches-for-these-rare-but-potentially-deadly-tumors
#15
REVIEW
Jing-Yi Chern, Leslie R Boyd, Stephanie V Blank
Uterine sarcomas are rare malignant uterine neoplasms that are responsible for a large majority of uterine cancer-associated deaths. The subtypes include leiomyosarcomas, endometrial stromal tumors, and adenosarcomas. Standard treatment includes complete surgical resection. Adjuvant treatment with chemotherapy, hormonal therapy, or radiation may be considered in patients with high-risk disease. However, because the ability of adjuvant treatment to improve overall survival in patients with uterine sarcomas is unclear, there is no standard recommendation regarding adjuvant therapy...
March 15, 2017: Oncology (Williston Park, NY)
https://www.readbyqxmd.com/read/28299658/clinical-relevance-of-runx1-and-cbfb-alterations-in-acute-myeloid-leukemia-and-other-hematological-disorders
#16
Klaus H Metzeler, Clara D Bloomfield
The translocation t(8;21), leading to a fusion between the RUNX1 gene and the RUNX1T1 locus, was the first chromosomal translocation identified in cancer. Since the first description of this balanced rearrangement in a patient with acute myeloid leukemia (AML) in 1973, RUNX1 translocations and point mutations have been found in various myeloid and lymphoid neoplasms. In this chapter, we summarize the currently available data on the clinical relevance of core binding factor gene alterations in hematological disorders...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28299221/endocrine-mucin-producing-sweat-gland-carcinoma-a-histological-challenge
#17
Mary Anne Brett, Samih Salama, Gabriella Gohla, Salem Alowami
Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare adnexal tumor of the skin with low-grade cytological features and neuroendocrine differentiation. It has a predilection for the skin of the eyelid, but has also been reported in the face and rarely extra-facial locations. The tumor is seen more frequently in women and on average affects the elderly. It is histologically and immunohistochemically analogous to solid papillary carcinoma of the breast/endocrine ductal carcinoma in situ with a nodular, solid, papillary, and/or cribriforming architecture, neuroendocrine differentiation, and mucin production...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/28298998/condylar-intramedullary-intraosseous-lipoma-contribution-of-a-new-case-and-review-of-the-literature
#18
Alba Sanjuan, Alicia Dean, Blas Garcia, Francisco Alamillos, Elisa Roldan, Antonio Blanco
BACKGROUND: Lipoma is the most common benign tumour of the human body, being intraosseous involvement very rare. Just 1 to 4% of all cases of lipoma are located in the oral cavity, only 0.1% being intraosseous. The jaw is its most uncommon bone location. Etiology of intraosseous lipoma (IOL) is unknown, although several theories have been proposed. Usually asymptomatic, the symptoms, when present, will depend on its location and size. Its origin may be intraosseous or juxtacortical. A biopsy is essential for diagnosis, and definitive treatment involves resection or curettage of the lesion...
March 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28298911/autoantibodies-against-the-n-methyl-d-aspartate-receptor-subunit-nr1-untangling-apparent-inconsistencies-for-clinical-practice
#19
REVIEW
Hannelore Ehrenreich
This viewpoint review provides an integrative picture of seemingly contradictory work published on N-methyl-d-aspartate receptor 1 (NMDAR1) autoantibodies (AB). Based on the present state of knowledge, it gives recommendations for the clinical decision process regarding immunosuppressive treatment. Brain antigen-directed AB in general and NMDAR1-AB in particular belong to a preexisting autoimmune repertoire of mammals including humans. Specific autoimmune reactive B cells may get repeatedly (perhaps transiently) boosted by various potential stimulants (e...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28298732/imaging-of-tuberous-sclerosis-complex-a-pictorial-review
#20
Felipe Mussi von Ranke, Igor Murad Faria, Gláucia Zanetti, Bruno Hochhegger, Arthur Soares Souza, Edson Marchiori
Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions...
January 2017: Radiologia Brasileira
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