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Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc

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https://www.readbyqxmd.com/read/30327501/breast-cancer-global-tumor-biomarkers-a-quality-assurance-study-of-intratumoral-heterogeneity
#1
Beth Z Clark, Agnieszka Onisko, Binara Assylbekova, Xin Li, Rohit Bhargava, David J Dabbs
Biomarker analysis of invasive breast carcinoma is useful for prognosis, as surrogate for molecular subtypes of breast cancer, and prediction of response to adjuvant and neoadjuvant systemic therapies. Breast cancer intratumoral heterogeneity is incompletely studied. Comprehensive biomarker analysis of estrogen receptor (ER), progesterone receptor (PR), HER2, and Ki67 labeling index was performed on each tissue block of 100 entirely submitted breast tumors in 99 patients. Invasive carcinoma and in situ carcinoma was scored using semiquantitative histologic score (H-score) for ER and PR, HER2 expression from 0 to 3+, and percentage positive cells for Ki67...
October 16, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30327500/collapsing-glomerulopathy-in-older-adults
#2
Benjamin Kukull, Rupali S Avasare, Kelly D Smith, Donald C Houghton, Megan L Troxell, Nicole K Andeen
Collapsing glomerulopathy has been described in settings of viral infections, drug, genetic, ischemic, renal transplant, and idiopathic conditions. It has a worse prognosis than other morphologic variants of focal segmental glomerulosclerosis, and may be treated with aggressive immunosuppression. In this study, we sought to characterize the clinical and morphologic findings in older adults with collapsing glomerulopathy. Renal biopsies and associated clinical data from patients aged 65 or older with a diagnosis of collapsing glomerulopathy were retrospectively reviewed at 3 academic institutions...
October 16, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30323237/focal-rosai-dorfman-disease-coexisting-with-lymphoma-in-the-same-anatomic-site-a-localized-histiocytic-proliferation-associated-with-mapk-erk-pathway-activation
#3
Sofia Garces, C Cameron Yin, Keyur P Patel, Joseph D Khoury, John T Manning, Shaoying Li, Jie Xu, Sergio Pina-Oviedo, Malisha R Johnson, Sergio González, Montserrat Molgó, Roberto Ruiz-Cordero, L Jeffrey Medeiros
Rosai-Dorfman disease is a rare histiocytic disorder shown to have gene mutations that activate the MAPK/ERK pathway in at least one-third of cases. Most patients with Rosai-Dorfman disease present with bulky lymphadenopathy or extranodal disease, but rarely Rosai-Dorfman disease is detected concomitantly with lymphoma in the same biopsy specimen. The underlying molecular mechanisms of focal Rosai-Dorfman disease occurring in the setting of lymphoma have not been investigated. We report 12 cases of Rosai-Dorfman disease and lymphoma involving the same anatomic site...
October 15, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30315275/immunohistochemical-evaluation-of-nuclear-5-hydroxymethylcytosine-5-hmc-accurately-distinguishes-malignant-pleural-mesothelioma-from-benign-mesothelial-proliferations
#4
David B Chapel, Aliya N Husain, Thomas Krausz
Accurate distinction of benign mesothelial proliferations from malignant mesothelioma remains a diagnostic challenge. Sequential use of BAP1 immunohistochemistry and CDKN2A fluorescence in situ hybridization is specific for diagnosis of mesothelioma, but fluorescence in situ hybridization is both costly and time-consuming. Early data indicate that mesothelioma shows extensive loss of nuclear 5-hydroxymethylcytosine (5-hmC). We studied 49 cases of mesothelioma (17 epithelioid mesothelioma, 22 biphasic mesothelioma, and 10 sarcomatoid mesothelioma) and 23 benign mesothelial proliferations using a 5-hmC single immunohistochemical stain, CAM5...
October 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30315274/detection-of-driver-mutations-in-braf-can-aid-in-diagnosis-and-early-treatment-of-dedifferentiated-metastatic-melanoma
#5
Nasr Alrabadi, Natasha Gibson, Kendra Curless, Liang Cheng, Matthew Kuhar, Shaoxiong Chen, Simon J P Warren, Ahmed K Alomari
Dedifferentiated metastatic melanoma can pose a significant diagnostic challenge, especially if the history of primary melanoma is not known or is remote. BRAF and NRAS mutations are common melanoma driver mutations that are usually sequenced to evaluate for treatment targets. We evaluated whether BRAF and NRAS mutational testing could contribute to the diagnosis of dedifferentiated metastatic melanoma when immunostains are negative. Seven patients with melanoma who had an additional diagnosis of poorly differentiated sarcoma with negative melanocytic immunostains were tested for BRAF and NRAS mutations...
October 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30315273/targeted-next-generation-sequencing-of-endometrial-cancer-and-matched-circulating-tumor-dna-identification-of-plasma-based-tumor-associated-mutations-in-early-stage-patients
#6
Ana M Bolivar, Rajyalakshmi Luthra, Meenakshi Mehrotra, Wei Chen, Bedia A Barkoh, Peter Hu, Wei Zhang, Russell R Broaddus
There is currently no blood-based marker in routine use for endometrial cancer patients. Such a marker could potentially be used for early detection, but it could also help to track tumor recurrence following hysterectomy. This is important, as extra-vaginal recurrence of endometrial endometrioid adenocarcinoma is usually incurable. This proof-of-principle study was designed to determine if tumor-associated mutations could be detected in cell-free DNA from the peripheral blood of early and late stage endometrial endometrioid carcinoma patients...
October 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30310177/histopathologic-findings-in-breast-surgical-specimens-from-patients-undergoing-female-to-male-gender-reassignment-surgery
#7
Vanda F Torous, Stuart J Schnitt
Breast reduction surgery or mastectomy following administration of androgen therapy is part of the female-to-male gender reassignment process. Details regarding the histopathologic findings in breast tissue from patients undergoing female-to-male gender reassignment surgery are limited. We reviewed hematoxylin and eosin-stained sections of breast tissue from 148 patients who underwent breast reduction surgery or mastectomy as part of the female-to-male gender reassignment process at our institution between January 2014 and May 2017...
October 11, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30310176/aberrant-receptor-tyrosine-kinase-signaling-in-lipofibromatosis-a-clinicopathological-and-molecular-genetic-study-of-20-cases
#8
Alyaa Al-Ibraheemi, Andrew L Folpe, Antonio R Perez-Atayde, Kyle Perry, Jakob Hofvander, Elsa Arbajian, Linda Magnusson, Jenny Nilsson, Fredrik Mertens
Lipofibromatosis is a rare pediatric soft tissue tumor with predilection for the hands and feet. Previously considered to represent "infantile fibromatosis", lipofibromatosis has distinctive morphological features, with mature adipose tissue, short fascicles of bland fibroblastic cells, and lipoblast-like cells. Very little is known about the genetic underpinnings of lipofibromatosis. Prompted by our finding of the FN1-EGF gene fusion, previously shown to be a characteristic feature of calcifying aponeurotic fibroma (CAF), in a morphologically typical case of lipofibromatosis that recurred showing features of CAF, we studied a cohort of 20 cases of lipofibromatosis for this and other genetic events...
October 11, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30310175/bcat1-and-mir-2504-novel-methylome-signature-distinguishes-spindle-desmoplastic-melanoma-from-superficial-malignant-peripheral-nerve-sheath-tumor
#9
George Jour, Varshini Vasudevaraja, Victor G Prieto, Matija Snuderl, Carlos A Torres-Cabala, Rami Al-Rohil, Erik P Sulman, Leomar Y Ballester, Phyu P Aung
Superficial/cutaneous malignant peripheral nerve sheath tumor is a rare soft tissue neoplasm that shares morphological, immunohistochemical, and molecular features with spindle/desmoplastic melanoma. We aimed to identify a methylome signature to distinguish these two entities. We analyzed 15 cases of spindle/desmoplastic melanoma and 15 cases of cutaneous malignant peripheral nerve sheath tumor in 23 men and 7 women. DNA from formalin-fixed, paraffin-embedded tissues was extracted and processed using the Illumina Infinium Methylation EPIC array interrogating 866,562 CpG sites...
October 11, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30297882/the-clinicopathologic-features-of-chronic-active-epstein-barr-virus-infective-enteritis
#10
Rongbei Liu, Mengyu Wang, Lizhi Zhang, Weixun Zhou, Ying Huang, Hong Guo, Yubei Gu, Yan Chen, Yuqin Li, Chunxiao Chen, Yufang Wang, Lan Rong, Ji Li, Jiaqi Xu, Qian Cao, Zhinong Jiang
Chronic active Epstein-Barr virus infective enteritis (CAEBV enteritis) is rare and has not been well described yet. Therefore, we reported the clinicopathologic features of 11 patients with chronic active Epstein-Barr virus infective enteritis and their differences from inflammatory bowel disease. The major clinical presentations of chronic active Epstein-Barr virus infective enteritis were intermittent fever over 39 °C (100%), diarrhea (73%), abdominal pain (64%), lymphadenopathy (64%), splenomegaly (64%), and hepatomegaly (27%)...
October 8, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30297881/increased-cd3-t-cells-with-a-low-foxp3-cd8-t-cell-ratio-can-predict-anti-pd-1-therapeutic-response-in-non-small-cell-lung-cancer-patients
#11
Hyojin Kim, Hyun Jung Kwon, Yeon Bi Han, Soo Young Park, Eun Sun Kim, Se Hyun Kim, Yu Jung Kim, Jong Seok Lee, Jin-Haeng Chung
To determine whether tumor microenvironments affect the clinical response to anti-PD-1 therapy in non-small cell lung cancer, we investigated the expression level of PD-L1 and tumor infiltrating lymphocytes and elucidate their predictive role. Thirty-eight pretreatment and two post-treatment specimens from 36 advanced, treatment-refractory non-small cell lung cancer patients who underwent PD-1 blockade therapy were analyzed. PD-L1 expression by tumor cells and the distribution of CD3, CD8, CD4, FOXP3 and PD-1 positive tumor infiltrating lymphocytes were immunohistochemically assessed and counted using digital image analyzer...
October 8, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30291347/a-novel-analytical-model-of-mgmt-methylation-pyrosequencing-offers-improved-predictive-performance-in-patients-with-gliomas
#12
Rui-Chao Chai, Yu-Qing Liu, Ke-Nan Zhang, Fan Wu, Zheng Zhao, Kuan-Yu Wang, Tao Jiang, Yong-Zhi Wang
The methylation status of the promoter of MGMT gene is a crucial factor influencing clinical decision-making in patients with gliomas. MGMT pyrosequencing results are often dichotomized by a cut-off value based on an average of several tested CpGs. However, this method frequently results in a "gray zone", representing a dilemma for physicians. We therefore propose a novel analytical model for MGMT methylation pyrosequencing. MGMT CpG heterogeneity was investigated in 213 glioma patients in two tested cohorts: cohort A in which CpGs 75-82 were tested and cohort B in which CpGs 72-78 were tested...
October 5, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30291346/h3k27me3-deficiency-defines-a-subset-of-dedifferentiated-chondrosarcomas-with-characteristic-clinicopathological-features
#13
Naohiro Makise, Masaya Sekimizu, Eiichi Konishi, Toru Motoi, Takashi Kubo, Hisashi Ikoma, Shun-Ichi Watanabe, Tomotake Okuma, Nobuyoshi Hiraoka, Masashi Fukayama, Akira Kawai, Hitoshi Ichikawa, Akihiko Yoshida
Dedifferentiated chondrosarcoma is a rare bone sarcoma, whose genetic background remains incompletely understood. Mutations in SUZ12 or EED, which encode polycomb repressive complex 2 (PRC2) components, and resulting deficiency in H3K27me3 are characteristic features of the majority of malignant peripheral nerve sheath tumors. Here, we investigated H3K27me3 and PRC2 status in dedifferentiated chondrosarcoma. Among 19 evaluable dedifferentiated chondrosarcoma cases, six (32%) showed immunohistochemical loss of H3K27me3 only in the dedifferentiated component, whereas the well-differentiated component retained H3K27me3...
October 5, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30291345/time-series-analysis-of-tp53-gene-mutations-in-recurrent-hpv-negative-vulvar-squamous-cell-carcinoma
#14
Sigrid Regauer, Karl Kashofer, Olaf Reich
The impact of TP53 gene mutations in recurrent HPV-negative vulvar squamous cell carcinomas is unclear. TP53 gene mutations were analyzed in archival tissues of 24 primary squamous cell carcinoma and local vulvar recurrences arising in chronic inflammatory dermatoses by analyzing the full coding sequence of the TP53 gene and correlated with disease-free survival. After resection of the primary squamous cell carcinoma with clear margins 19/24 patients had one and 5/24 had multiple recurrences. The first recurrence occurred after median of 46 months (range 12-180 months)...
October 5, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30291344/identification-of-a-subset-of-microsatellite-stable-endometrial-carcinoma-with-high-pd-l1-and-cd8-lymphocytes
#15
Suzanne Crumley, Katherine Kurnit, Courtney Hudgens, Bryan Fellman, Michael T Tetzlaff, Russell Broaddus
Immune checkpoint blockade has emerged as an effective therapeutic strategy for patients with advanced cancer. Identification of biomarkers associated with treatment efficacy will help to select patients more likely to respond to this approach. High levels of microsatellite instability, tumor expression of PD-L1, high tumor mutation burden, and increased tumor-infiltrating lymphocytes have all been associated with response to checkpoint inhibitor blockade. The purpose of this study was to determine if a subset of microsatellite-stable endometrioid endometrial carcinomas have higher immune cell infiltrates and/or expression of PD-L1...
October 5, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30287926/histiocyte-rich-rhabdomyoblastic-tumor-rhabdomyosarcoma-rhabdomyoma-or-rhabdomyoblastic-tumor-of-uncertain-malignant-potential-a-histologically-distinctive-rhabdomyoblastic-tumor-in-search-of-a-place-in-the-classification-of-skeletal-muscle-neoplasms
#16
Anthony P Martinez, Karen J Fritchie, Sharon W Weiss, Abbas Agaimy, Florian Haller, Hsuan-Ying Huang, Seungjae Lee, Armita Bahrami, Andrew L Folpe
Skeletal muscle tumors are traditionally classified as rhabdomyoma or rhabdomyosarcoma. We have identified an unusual adult rhabdomyoblastic tumor not clearly corresponding to a previously described variant of rhabdomyoma or rhabdomyosarcoma, characterized by a very striking proliferation of non-neoplastic histiocytes, obscuring the underlying tumor. Ten cases were identified in nine males and one female with a median age of 43 years (range 23-69 years). Tumors involved the deep soft tissues of the trunk (N = 4), lower limbs (N = 4), and neck (N = 2)...
October 4, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30266945/dicer1-mutations-are-frequent-in-m%C3%A3-llerian-adenosarcomas-and-are-independent-of-rhabdomyosarcomatous-differentiation
#17
Gregory R Bean, Joshua Anderson, Ankur R Sangoi, Gregor Krings, Karuna Garg
Müllerian adenosarcomas are biphasic epithelial-mesenchymal tumors with benign epithelial and malignant mesenchymal components. The sarcoma component may be low or high grade; the latter is often seen in the presence of stromal overgrowth, which correlates with worse clinical outcome. Heterologous differentiation may also occur, usually in association with stromal overgrowth. DICER1 mutations have been reported primarily in a small subset of adenosarcomas with rhabdomyosarcomatous elements, but whether these are specific to the rhabdomyosarcomatous phenotype is unclear...
September 28, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30258209/cervical-adenosquamous-carcinoma-detailed-analysis-of-morphology-immunohistochemical-profile-and-clinical-outcomes-in-59-cases
#18
Simona Stolnicu, Lien Hoang, Orsolya Hanko-Bauer, Iulia Barsan, Cristina Terinte, Anna Pesci, Sarit Aviel-Ronen, Takako Kiyokawa, Isabel Alvarado-Cabrero, Esther Oliva, Kay J Park, Robert A Soslow
Although 2014 World Health Organization criteria require unequivocal glandular and squamous differentiation for a diagnosis of cervical adenosquamous carcinoma, in practice, adenosquamous carcinoma diagnoses are often made in tumors that lack unequivocal squamous and/or glandular differentiation. Considering the ambiguous etiologic, morphological, and clinical features and outcomes associated with adenosquamous carcinomas, we sought to redefine these tumors. We reviewed slides from 59 initially diagnosed adenosquamous carcinomas (including glassy cell carcinoma and related lesions) to confirm an adenosquamous carcinoma diagnosis only in the presence of unequivocal malignant glandular and squamous differentiation...
September 26, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30237525/identification-of-high-risk-human-papillomavirus-and-rb-e2f-pathway-genomic-alterations-in-mutually-exclusive-subsets-of-colorectal-neuroendocrine-carcinoma
#19
Eliah R Shamir, W Patrick Devine, Melike Pekmezci, Sarah E Umetsu, Gregor Krings, Scot Federman, Soo-Jin Cho, Tara A Saunders, Kuang-Yu Jen, Emily Bergsland, Kirk Jones, Grace E Kim, Sanjay Kakar, Charles Y Chiu, Nancy M Joseph
Colorectal neuroendocrine carcinomas, both small cell and large cell types, are highly aggressive tumors with poor prognosis compared with colorectal adenocarcinoma. The molecular drivers of neuroendocrine carcinoma are best defined in small cell lung cancer, which shows near-universal genomic alterations in TP53 and RB1. The genetics of colorectal neuroendocrine carcinoma remain poorly understood; recent studies demonstrated infrequent RB1 alterations and genetics closely resembling colorectal adenocarcinoma...
September 20, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/30206415/transcriptional-analysis-distinguishes-breast-implant-associated-anaplastic-large-cell-lymphoma-from-other-peripheral-t-cell-lymphomas
#20
Arianna Di Napoli, Loris De Cecco, Pier Paolo Piccaluga, Mohsen Navari, Valeria Cancila, Claudia Cippitelli, Giuseppina Pepe, Gianluca Lopez, Francesca Monardo, Antonella Bianchi, Emanuele Stefano Giovanni D'Amore, Umberto Gianelli, Fabio Facchetti, Emilio Berti, Govind Bhagat
Breast implant-associated anaplastic large cell lymphoma is a new provisional entity in the revised World Health Organization classification of lymphoid malignancies, the pathogenesis and cell of origin of which are still unknown. We performed gene expression profiling of microdissected breast implant-associated anaplastic large cell lymphoma samples and compared their transcriptional profiles with those previously obtained from normal T-cells and other peripheral T-cell lymphomas and validated expression of selected markers by immunohistochemistry...
September 11, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
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