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Diagnostic Pathology

Zhen Huo, Tao Lu, Zhiyong Liang, Fan Ping, Jie Shen, Jingjing Lu, Wenbing Ma, Dachun Zhao, Dingrong Zhong
BACKGROUND: Isolated hypothalamic-pituitary Langerhans cell histiocytosis (HPLCH) is very rare. We investigated the clinicopathological characteristics, endocrine function changes, BRAF(V600E) mutations and treatments of isolated HPLCH. METHODS: We identified seven patients with isolated HPLCH by reviewing the clinical and pathological files in our hospital from 2007 to 2015. The clinical characteristics of the seven patients were retrospectively reviewed, especially the endocrine function changes...
October 19, 2016: Diagnostic Pathology
Petra Balogh, Rita Bánusz, Monika Csóka, Zsófia Váradi, Edit Varga, Zoltán Sápi
BACKGROUND: Rhabdomyosarcoma (RMS) is a malignant tumor of mesenchymal origin and comprises the largest category of soft-tissue sarcomas both in children and adolescents. From a pediatric oncology point of view, RMS has traditionally been classified into alveolar (ARMS) and embryonal (ERMS) subtypes. The anatomical localization of the tumor may vary, but commonly involve the head/neck regions, male and female urogenital tract or the trunk and extremities. CASE PRESENTATION: Here, we report two challenging cases involving 17- and 9-years-olds males where diffuse and multiplex bone lesions suggested either a hematological disease or a primary bone tumor (mesenchymal chondrosarcoma)...
October 18, 2016: Diagnostic Pathology
Lu Yu, Jun Li, Sanpeng Xu, Mariajose Navia Miranda, Guoping Wang, Yaqi Duan
BACKGROUND: Xp11.2 translocation/transcription factor E3 (TFE3) rearrangement renal cell carcinoma (RCC) is a rare subtype of RCC with limited clinical and pathological data. CASE PRESENTATION: Here we present an unusual high-grade Xp11.2 translocation RCC with a rhabdoid feature and SMARCB1 (INI1) inactivation in a 40-year-old man with end-stage kidney disease. The histological examination of the dissected left renal tumor showed an organoid architecture of the eosinophilic or clear neoplastic cells with necrosis and high mitotic activity...
October 12, 2016: Diagnostic Pathology
Ian J Robertson, Fadel Bennani, Ronan S Ryan, Waqar Khan, M Kevin Barry
No abstract text is available yet for this article.
October 11, 2016: Diagnostic Pathology
Crescenzio Francesco Minervini, Cosimo Cumbo, Paola Orsini, Claudia Brunetti, Luisa Anelli, Antonella Zagaria, Angela Minervini, Paola Casieri, Nicoletta Coccaro, Giuseppina Tota, Luciana Impera, Annamaria Giordano, Giorgina Specchia, Francesco Albano
BACKGROUND: The assessment of TP53 mutational status is becoming a routine clinical practice for chronic lymphocytic leukemia patients (CLL). A broad spectrum of molecular techniques has been employed so far, including both direct Sanger sequencing and next generation sequencing. Oxford Nanopore Technologies recently released the MinION an USB-interfaced sequencer. In this paper we report our experience, with the MinION technology for the detection of the TP53 gene mutation in CLL patients...
October 10, 2016: Diagnostic Pathology
Marlon C Rebelatto, Anita Midha, Amita Mistry, Constantine Sabalos, Nicole Schechter, Xia Li, Xiaoping Jin, Keith E Steele, Paul B Robbins, John A Blake-Haskins, Jill Walker
BACKGROUND: A high-quality programmed cell-death ligand 1 (PD-L1) diagnostic assay may help predict which patients are more likely to respond to anti-programmed cell death-1 (PD-1)/PD-L1 antibody-based cancer therapy. Here we describe a PD-L1 immunohistochemical (IHC) staining protocol developed by Ventana Medical Systems Inc. and key analytical parameters of its use in formalin-fixed, paraffin-embedded (FFPE) samples of non-small cell lung cancer (NSCLC) and head and neck squamous cell carcinoma (HNSCC)...
October 8, 2016: Diagnostic Pathology
Tanja Kersnik Levart, Dušan Ferluga, Alenka Vizjak, Jerica Mraz, Nika Kojc
BACKGROUND: Understanding the role of alternative complement pathway dysregulation in membranoproliferative glomerulonephritis (MPGN) has led to a dramatic shift in its classification into two subgroups: immune complex-mediated MPGN and complement-mediated MPGN, consisting of dense deposit disease and C3 glomerulonephritis (C3GN). A limited number of C3GN cases have been published to date with not yet conclusive results since the novel therapeutic approach with eculizumab was introduced...
October 7, 2016: Diagnostic Pathology
Zaneta Swiderska-Chadaj, Tomasz Markiewicz, Bartlomiej Grala, Malgorzata Lorent
BACKGROUND: Hot-spot based examination of immunohistochemically stained histological specimens is one of the most important procedures in pathomorphological practice. The development of image acquisition equipment and computational units allows for the automation of this process. Moreover, a lot of possible technical problems occur in everyday histological material, which increases the complexity of the problem. Thus, a full context-based analysis of histological specimens is also needed in the quantification of immunohistochemically stained specimens...
October 7, 2016: Diagnostic Pathology
Chelsey D Deel, Richard A Allen, Laura L Holman, Rosemary E Zuna
BACKGROUND: Fallopian tube involvement by cervical carcinoma has rarely been documented, with literature reports focusing primarily on squamous cell carcinoma. CASE PRESENTATION: In this report, we present the case of a 50 year old woman who presented with an abnormal Pap test with atypical squamous and glandular cells. A loop electrosurgical excision procedure (LEEP) was performed and led to the diagnosis of stage IB1 endocervical adenocarcinoma. Subsequent radical hysterectomy, bilateral salpingo-oophorectomy, and bilateral pelvic lymph node dissection showed a well-differentiated endocervical adenocarcinoma of usual type with superficial spread to the endometrium and right fallopian tube...
August 17, 2016: Diagnostic Pathology
Shintaro Sugita, Hiroshi Hirano, Noriaki Kikuchi, Terufumi Kubo, Hiroko Asanuma, Tomoyuki Aoyama, Makoto Emori, Tadashi Hasegawa
BACKGROUND: Pseudomyogenic hemangioendothelioma (PHE) is an unusual vascular tumor of intermediate malignancy that rarely metastasizes and tends to arise in the lower limbs of young adults and children. Histologically, PHE shows fascicular proliferation of eosinophilic spindle cells and/or epithelioid cells showing "pseudomyogenic" morphology. Immunohistochemically, PHE is usually positive for vimentin, cytokeratin, CD31 and ERG. METHOD: We examined FOSB immunohistochemistry (IHC) in 27 cases consisting of 4 PHE and its histologic mimics including 6 epithelioid hemangioendotheliomas (EHE), 8 angiosarcomas (AS), 4 Kaposi sarcomas (KS) and 5 epithelioid sarcomas (ES)...
August 11, 2016: Diagnostic Pathology
Yue-Feng Jiang, Yang Liu, Ye-Lin Wang, Hong-Yi Cao, Liang Wang, Hong-Tao Xu, Qing-Chang Li, Xue-Shan Qiu, En-Hua Wang
BACKGROUND: Pleomorphic xanthoastrocytoma is rare, accounting for <1 % of all central nervous system (CNS) neoplasms. Angiomatous pleomorphic xanthoastrocytoma is an extremely rare variant of pleomorphic xanthoastrocytoma, with only six cases reported thus far. CASE PRESENTATION: A 24-year-old Chinese female patient who presented with seizure and loss of consciousness for 15 min underwent computed tomography and magnetic resonance imaging, which revealed a mass in the left parietal lobe...
August 9, 2016: Diagnostic Pathology
Giovanna Giordano, Roberto Berretta, Enrico Silini
BACKGROUND: In the ovary, sarcomatoid carcinoma has been reported only as mural nodules in epithelial malignant or borderline serous or mucinous cystic neoplasms, and in teratomas. In this paper we report a rare case of a solid sarcomatoid carcinoma of the ovary, without accompanying component of giant cells, pleomorphic cells, or glandular and other epithelial structures. CASE PRESENTATION: This case report refers to a sarcomatoid carcinoma of the ovary in in a 57 year-old woman with abdominal pain...
August 5, 2016: Diagnostic Pathology
Ting Lan, Huijiao Chen, Bo Xiong, Tingqing Zhou, Ran Peng, Min Chen, Feng Ye, Jin Yao, Xin He, Yaqin Wang, Hongying Zhang
BACKGROUND: Primary pleuropulmonary and mediastinal synovial sarcomas (PPMSSs) are extremely rare. The authors present the largest series in an Asian population. METHODS: Between 2000 and 2015, 26 genetically confirmed PPMSSs were included. The clinicopathologic features of all of the cases were reviewed. Immunohistochemical staining was carried out using the following antibodies: TLE1, cytokeratin (AE1/AE3), EMA, CD99, Bcl-2, CK7, CD34, S-100 protein, and Ki-67...
July 11, 2016: Diagnostic Pathology
Wenzel M Hackeng, Ralph H Hruban, G Johan A Offerhaus, Lodewijk A A Brosens
BACKGROUND: Histologic characteristics have proven to be very useful for classifying different types of tumors of the pancreas. As a result, the major tumor types in the pancreas have long been classified based on their microscopic appearance. MAIN BODY: Recent advances in whole exome sequencing, gene expression profiling, and knowledge of tumorigenic pathways have deepened our understanding of the underlying biology of pancreatic neoplasia. These advances have not only confirmed the traditional histologic classification system, but also opened new doors to early diagnosis and targeted treatment...
June 7, 2016: Diagnostic Pathology
Shabnam Akhter, Pradip Manna, Mohammed Kamal, C James Sung, W Dwayne Lawrence, M Ruhul Quddus
BACKGROUND: Bangladesh, with a population of 160 million and nearly half being women, has the 4th highest rate of cervical carcinoma deaths in the world. It is projected that ∼500,000 of these women would die of this entirely preventable cancer by 2030. HPV vaccination is not widely offered in Bangladesh. This pilot study is designed to find out the prevalence of rare and multi-viral high-risk HPV (hrHPV) subtype(s) infection which may help strategize a large scale vaccination program in tackling cervical carcinoma in the country...
2016: Diagnostic Pathology
Yan Chen, Da-Yan Hu, Ting-Ting Wang, Ran Zhang, Qing Dong, Zhi-Xiu Xu, Lin Wang, Tie-Jun Li
BACKGROUND: The tumor suppressor gene CDC73 was found to be associated with hyperparathyroidism-jaw tumor syndrome (HPT-JT), which is characterized by parathyroid adenoma or carcinoma, ossifying fibroma (OF) of the jaws, and renal and uterine lesions. Mutations in CDC73 have also been frequently detected in sporadic parathyroid carcinomas and renal tumors. However, the prevalence and range of CDC73 mutations in sporadic OFs have not been established. METHODS: We directly sequenced coding and flanking splice junctional regions of CDC73 in 40 cases of sporadic OF of the jaws...
2016: Diagnostic Pathology
Luka Brcic, Marko Jakopovic, Marija Misic, Fran Seiwerth, Izidor Kern, Silvana Smojver-Jezek, Franz Quehenberger, Miroslav Samarzija, Sven Seiwerth
BACKGROUND: Many studies have been published on the mutational status of patients with lung adenocarcinomas, and great population-based variability in mutation frequencies has been reported. The main objective of the present study was to analyze the EGFR, KRAS and ALK mutation status in a representative cohort of patients in Croatia with lung adenocarcinomas and to correlate the mutational status with clinical data. METHODS: All patients who were newly diagnosed within 6 months with histologically proven primary lung adenocarcinomas were included...
2016: Diagnostic Pathology
Ariz Akhter, Muhammad Kashif Mughal, Ghaleb Elyamany, Gary Sinclair, Raja Zahratul Azma, Noraidah Masir, Salwati Shuib, Fariborz Rashid-Kolvear, Meer-Taher Shabani-Rad, Douglas Allan Stewart, Adnan Mansoor
BACKGROUND: The World Health Organization (WHO) classification system defines recurrent chromosomal translocations as the sole diagnostic and prognostic criteria for acute leukemia (AL). These fusion transcripts are pivotal in the pathogenesis of AL. Clinical laboratories universally employ conventional karyotype/FISH to detect these chromosomal translocations, which is complex, labour intensive and lacks multiplexing capacity. Hence, it is imperative to explore and evaluate some newer automated, cost-efficient multiplexed technologies to accommodate the expanding genetic landscape in AL...
2016: Diagnostic Pathology
Fang Tong, Yue Liang, Muhammad Fasahat Khan, Lin Zhang, Wenhe Li, Mohammed Mahmoodurrahman, Yiwu Zhou
BACKGROUND: Branchial cleft anomalies constitute a frequently encountered and commonly non-lethal disease in otolaryngology, and result from aberrant embryonic development. The third branchial cleft fistula is one of the four known specific types of branchial cleft anomalies, and always presents as recurrent neck abscess and suppurative thyroiditis. Here, we report an unexpected death due to severe neck infection following a third branchial cleft fistula. CASE PRESENTATION: A 19-year-old man was sent to the hospital with a 1-week history of recurrent left-sided neck abscess, and was scheduled for incision and drainage of the abscess...
2016: Diagnostic Pathology
Feng Wang, Jun Wang, Xuan Yang, Danjie Chen, Liuxing Wang
BACKGROUNDS: ESCC is a life-threatening disease due to invasion and metastasis in the early stage. Great efforts had been made to detect the molecular mechanisms which led to the invasion and metastasis in ESCC. Recent evidence had suggested that deregulation of miR-424-5p took an important role in cancers. However, its role and functional mechanism in ESCC had seldom been elucidated. METHODS: The expression levels of miR-424-5p were detected in ESCC tissues and cell lines by real-time PCR methods...
2016: Diagnostic Pathology
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