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TP53 mutation is frequent in mantle cell lymphoma with EZH2 expression and have dismal outcome when both are present Hum. Pathol. (IF 3.3) Pub Date : 2024-03-07 Do Hwan Kim, Saima Siddiqui, Preetesh Jain, Michael Wang, Beenu Thakral, Shaoying Li, Roberto Miranda, Francisco Vega, L. Jeffrey Medeiros, Chi Young Ok
Enhancer of zeste homolog 2 (EZH2) expression is found in about 40% of mantle cell lymphoma (MCL) patients, which is associated with aggressive histology, high Ki-67 proliferation rate, p53 mutant pattern and inferior overall survival (OS). We conducted 11-gene ( and ) next generation sequencing panel to shed more light on MCL with EZH2 expression (EZH2+ MCL). EZH2+ MCL more frequently harbor mutation
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Morphological findings in different subtypes of hepatic amyloid Hum. Pathol. (IF 3.3) Pub Date : 2024-03-07 Saba Yasir, Zongming Eric Chen, Chris Hartley, Lizhi Zhang, Michael Torbenson
The classic findings have been well described for light-chain amyloid involving the liver. In addition to light chain, however, many additional proteins are now known to be amyloidogenic and can involve the liver. A total of 58 surgical pathology specimens with amyloid deposits were analyzed for patterns of amyloid deposition, including amyloid from light chain lambda (N = 17), light chain kappa (N = 15)
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Pulmonary gangliocytic paraganglioma: An under-recognized mimic of carcinoid tumor Hum. Pathol. (IF 3.3) Pub Date : 2024-03-03 Julia R. Naso, Diping Wang, Arthur O. Romero, Timothy Leclair, Peter Smit, Jennifer M. Boland, Andrew L. Folpe, Melanie C. Bois
Gangliocytic paragangliomas are rare neoplasms occurring almost exclusively in the ampullary region of the gastrointestinal tract. Although these tumors are not typically considered in the differential diagnosis of primary pulmonary neoplasia, 5 cases of primary pulmonary gangliocytic paragangliomas have been previously reported. Herein we report our experience with 3 additional examples, all referred
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Angioimmunoblastic T-cell lymphoma involving the nasopharynx: An easily misdiagnosed disease with atypical histopathological features Hum. Pathol. (IF 3.3) Pub Date : 2024-02-29 Ting Xu, Xuanye Zhang, Junhui Zhu, Chaoyun Huang, Mengyao Zhou, Lina Hu, Lin Guo, Suxia Lin, Xiaoping Lin, Shengbing Zang
To explore the clinicopathologic features, treatment, and survival outcomes of angioimmunoblastic T-cell lymphoma (AITL) involving the nasopharynx. We retrospectively analyzed 73 cases of AITL. Among them, 64 cases with complete pre-treatment 18F-FDG positron emission tomography/computed tomography (PET/CT) images were integrated into the analysis of clinical characteristics and PET/CT findings of
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The prognostic value of tumor budding in a thoroughly characterized stage II colon cancer population in the context of a national screening program Hum. Pathol. (IF 3.3) Pub Date : 2024-02-28 Maria Pihlmann Kristensen, Ulrik Korsgaard, Signe Timm, Torben Frøstrup Hansen, Inti Zlobec, Henrik Hager, Sanne Kjær-Frifeldt
Tumor budding as a prognostic marker in colorectal cancer has not previously been investigated in a cohort of screened stage II colon cancer patients. We assess the prognostic significance of tumor budding in a thoroughly characterized stage II colon cancer population comprising surgically resected patients in the Region of Southern Denmark from 2014 to 2016. Tumors were re-staged according to the
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Superficial dedifferentiated liposarcoma: A clinicopathologic study Hum. Pathol. (IF 3.3) Pub Date : 2024-02-27 Melanie Bourgeau, Jatin S. Gandhi, Kristin K. Deeb, Armita Bahrami
Dedifferentiation occurs in approximately 10% of atypical lipomatous tumors/well-differentiated liposarcomas (ALT/WDLPS), primarily in retroperitoneal or deep-seated tumors, conferring metastatic potential. Superficial dedifferentiated liposarcoma (sDDLPS) is rare, and its progression and natural history are poorly documented. We performed a 15-year retrospective review of our pathology database to
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Mucin phenotype and genetic alterations in non-V600E BRAF-mutated colorectal cancer Hum. Pathol. (IF 3.3) Pub Date : 2024-02-27 Hikaru Ozeki MD, Yoshifumi Shimada MD PhD, Mae Nakano MD PhD, Shuhei Kondo MD PhD, Riuko Ohashi MD PhD, Yamato Miwa MD, Daisuke Yamai MD, Akio Matsumoto MD PhD, Kaoru Abe MD PhD, Yosuke Tajima MD PhD, Hiroshi Ichikawa MD PhD, Jun Sakata MD PhD, Yasumasa Takii MD PhD, Mika Sugai PhD, Takahiro Nagai MD PhD, Yiwei Ling PhD, Shujiro Okuda PhD, Toshifumi Wakai MD PhD
Colorectal cancer (CRC) is a heterogeneous disease that develops through stepwise accumulation of genetic alterations and progresses via several distinct pathways. However, the tumorigenesis of CRCs with BRAF non-V600E mutations remains unclear. Here, we aimed to elucidate the tumorigenesis of CRCs with BRAF non-V600E mutations, focusing on differences in mucin phenotype and genetic alterations between
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Colorectal neuroendocrine carcinoma and mixed neuroendocrine-non-neuroendocrine neoplasm: Prognostic factors and PD-L1 expression Hum. Pathol. (IF 3.3) Pub Date : 2024-02-27 Yi Hsuan Ho, Chih Yi Hsu, Anna Fen Yau Li, Wen Yih Liang
Colorectal neuroendocrine carcinoma (NEC) and mixed neuroendocrine-non-neuroendocrine neoplasm (MiNEN) are rare malignancies with unclear boundaries and poor prognoses. Our study aimed to conduct a comparative analysis of these diseases, identify prognostic factors, and explore potential therapeutic targets. We collected and analyzed clinicopathological data of NEC and MiNEN in our hospital from 2011
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DDIT3-amplified or low-polysomic pleomorphic sarcomas without MDM2 amplification: Clinicopathological review and immunohistochemical profile of nine cases Hum. Pathol. (IF 3.3) Pub Date : 2024-02-22 Taro Mori, Takeshi Iwasaki, Hiroki Sonoda, Kengo Kawaguchi, Takumi Tomonaga, Hiroshi Furukawa, Chiaki Sato, Sakura Shiraishi, Kenichi Taguchi, Sadafumi Tamiya, Reiko Yoneda, Yumi Oshiro, Tomoya Matsunobu, Chie Abe, Yusuke Kuboyama, Nozomi Ueki, Kenichi Kohashi, Hidetaka Yamamoto, Yasuharu Nakashima, Yoshinao Oda
Several high-grade pleomorphic sarcoma cases that cannot be classified into any existing established categories have been reported. These cases were provisionally classified into undifferentiated pleomorphic sarcoma (UPS). Some dedifferentiated liposarcoma (DDLS) cases may also have been classified into the UPS category due to the absence of amplification or an atypical lipomatous tumor/well-differentiated
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Comprehensive phenotypic and genomic characterization of venous malformations Hum. Pathol. (IF 3.3) Pub Date : 2024-02-15 Katsutoshi Hirose, Yumiko Hori, Michio Ozeki, Daisuke Motooka, Kenji Hata, Shinichiro Tahara, Takahiro Matsui, Masaharu Kohara, Kazuaki Maruyama, Kyoko Imanaka-Yoshida, Satoru Toyosawa, Eiichi Morii
Venous malformations (VMs) are the most common vascular malformations. and are the causal genes of VMs, and may be involved in the PI3K/AKT pathway. However, the downstream mechanisms underlying the or mutations in VMs are not completely understood. This study aimed to identify a possible association between genetic mutations and clinicopathological features. A retrospective clinical, pathological
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Biological background of colorectal polyps and carcinomas with heterotopic ossification: A national study and literature review Hum. Pathol. (IF 3.3) Pub Date : 2024-02-15 Anne-Marie Vos, Lieke Pijnenborg, Shannon van Vliet, Liudmila L. Kodach, Francesco Ciompi, Rachel S. van der Post, Femke Simmer, Iris D. Nagtegaal
The biological mechanisms and potential clinical impact of heterotopic ossification (HO) in colorectal neoplasms are not fully understood. This study investigates the clinicopathological characteristics of colorectal neoplasms associated with HO and examines the potential role of the bone morphogenetic protein (BMP) pathway in development of HO. An artificial intelligence (AI) based classification
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Vascular tumors of intermediate malignancy: An update Hum. Pathol. (IF 3.3) Pub Date : 2024-02-13 Andrew L. Folpe
The term “hemangioendothelioma” is used for endothelial neoplasms of intermediate malignancy and describes a group of rare neoplasms having biologic behavior falling in between that of the benign hemangiomas and fully malignant angiosarcomas. The hemangioendotheliomas fall into several specific, clinicopathologically and genetically distinct entities, specifically epithelioid hemangioendothelioma,
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Actual encounters of the kidney kind: Exploring 48 cases of renal collision tumors through the lens of literature Hum. Pathol. (IF 3.3) Pub Date : 2024-02-08 L. Angelica Lerma, Garrison Pease, James Malleis, Tatjana Antic, Ondrej Hes, Maria Tretiakova
Multiple tumors of different lineages merging into a single mass, termed collision tumors, are considered a rare phenomenon in the kidney. Tumor components, or partners, may be malignant (including metastatic disease), borderline, or benign. We report the largest cohort to date of 48 cases.
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Spinal calcifying pseudoneoplasm of the neuraxis (CAPNON) associated with facet joint pathologies: CAPNON diagnostic and pathogenic insights Hum. Pathol. (IF 3.3) Pub Date : 2024-02-07 Faiha Fareez, Sultan Yahya, Crystal Fong, Jinesa Moodley, John Provias, Snezana Popovic, Aleksa Cenic, Jian-Qiang Lu
Calcifying pseudoneoplasm of the neuraxis (CAPNON) is a rare tumor-like fibro-osseous lesion that can develop anywhere in the neuraxis. Approximately a half of reported CAPNONs developed in the spinal region, mostly close to the facet joint (FJ). The diagnosis of spinal CAPNONs is challenging given the existence of mimics and associated pathologies including calcific degeneration of the FJ ligaments
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Residual pure intralymphatic carcinoma component only (lymphovascular tumor emboli without invasive carcinoma) after neoadjuvant chemotherapy is associated with poor outcome: Not pathologic complete response Hum. Pathol. (IF 3.3) Pub Date : 2024-02-02 Hyunwoo Lee, Yunjeong Jang, Yoon Ah Cho, Eun Yoon Cho
Residual pure intralymphatic carcinoma (PIC) component only after neoadjuvant chemotherapy (NAC) is lymphovascular tumor emboli without invasive carcinoma and extremely rare form of residual tumor after NAC. Although several studies have been published, the prognostic influence of residual PIC component only had not been fully evaluated. This study aims to evaluate the clinicopathologic features and
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Dedifferentiation in bone and soft tissue sarcomas: How do we define it? What is prognostically relevant? Hum. Pathol. (IF 3.3) Pub Date : 2024-02-02 Sarah M. Dry
Dedifferentiation traditionally is defined by descriptive criteria as a tumor showing an abrupt change in histology from a conventional, classic, low-grade appearing neoplasm to a tumor that is more cellular, pleomorphic and “high grade”, with grading typically being performed by subjective criteria. The dedifferentiated areas range from areas with recognizable histologic differentiation which differs
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SWI/SNF chromatin remodeling complex in pancreatic ductal adenocarcinoma: Clinicopathologic and immunohistochemical study Hum. Pathol. (IF 3.3) Pub Date : 2024-02-01 Irene Y. Chen, Mark G. Ettel, Phoenix D. Bell, Aaron R. Huber, Jennifer J. Findeis-Hosey, Wenjia Wang, Aram F. Hezel, Richard F. Dunne, Michael G. Drage, Diana Agostini-Vulaj
The SWItch/Sucrose Non-Fermentable (SWI/SNF) complex is a multimeric protein involved in transcription regulation and DNA damage repair. SWI/SNF complex abnormalities are observed in approximately 14–34 % of pancreatic ductal adenocarcinomas (PDACs). Herein, we evaluated the immunohistochemical expression of a subset of the SWI/SNF complex proteins (ARID1A, SMARCA4/BRG1, SMARCA2/BRM, and SMARCB1/INI1)
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Histones and their practical application in bone tumors: Do I always need them? Hum. Pathol. (IF 3.3) Pub Date : 2024-02-01 John D. Reith
Historically, the diagnosis of giant cell-rich neoplasms arising in bone has been challenging owing to overlapping clinical and radiographic findings resulting in the difficult separation of several neoplasms, particularly when biopsy material is limited. However, with the discovery of the driver histone mutations in giant cell tumor of bone (GCTB) and chondroblastoma, as well as rearrangements in
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Optical genomic mapping is a helpful tool for detecting CCND1 rearrangements in CD5-negative small B-cell lymphoma: Two cases of leukemic non-nodal mantle cell lymphoma Hum. Pathol. (IF 3.3) Pub Date : 2024-01-30 Andres E. Quesada, Shimin Hu, Shaoying Li, Gokce A. Toruner, Qing Wei, Sanam Loghavi, Chi Young Ok, Preetesh Jain, Beenu Thakral, O. Valentine Nwogbo, Do Kim, Swaminathan P. Iyer, M. James You, L. Jeffrey Medeiros, Guilin Tang
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Enteroblastic cholangiocarcinoma: An uncommon, underrecognized subtype of bile duct cancer Hum. Pathol. (IF 3.3) Pub Date : 2024-01-30 Jihyun Chun, Michelle Moore, Paul Kelly, Maki Kanzawa, Tomoo Itoh, Seung-Mo Hong, Yoh Zen
Enteroblastic carcinoma is clinically characterized by an elevated serum level of alpha-fetoprotein (AFP) and is histologically characterized by cancer cells with a clear cytoplasm and ‘blastic’ coarse chromatin. It sometimes has an element of hepatoid carcinoma; therefore, these two neoplasms are often regarded as sister entities. Although hepatoid carcinoma in the biliary tree has been reported,
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Updates on WHO classification for small round cell tumors: Ewing Sarcoma vs. Everything Else Hum. Pathol. (IF 3.3) Pub Date : 2024-01-26 Carina A. Dehner, Alexander J. Lazar, John S.A. Chrisinger
The WHO Classification of Soft Tissue and Bone Tumors currently recognizes four categories of undifferentiated small round cell sarcoma: Ewing sarcoma, round cell sarcoma with EWSR1-non-ETS fusions including NFATc2 and PATZ1, CIC-rearranged sarcoma, and sarcoma with BCOR genetic alterations. These neoplasms frequently pose significant diagnostic challenges due to rarity and overlapping morphologic
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Update on the role of pathology and laboratory medicine in diagnosing periprosthetic infection Hum. Pathol. (IF 3.3) Pub Date : 2024-01-25 Fermina M. Mazzella, Yaxia Zhang, Thomas W. Bauer
Technological and implant design advances have helped reduce the frequency of aseptic total joint arthroplasty failure, but periprosthetic joint infections (PJI) remain a clinical important problem with high patient morbidity. Misinterpreting PJI as aseptic mechanical loosening commonly leads to unsatisfactory revision arthroplasty, persistent infection, and poor long-term results. While there is no
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A Comparative Evaluation of TRPS1 and GATA3 in adenoid cystic, secretory, and acinic cell carcinomas of the breast and salivary gland Hum. Pathol. (IF 3.3) Pub Date : 2024-01-21 Alireza Salem, Yun Wu, Constance T. Albarracin, Lavinia P. Middleton, Neda Kalhor, Yan Peng, Xiao Huang, Phyu P. Aung, Hui Chen, Aysegul A. Sahin, Qingqing Ding
GATA3 is the most used marker to determine tumors’ breast origin, but its diagnostic value in triple-negative breast cancer (TNBC) is limited. The newly identified TRPS1 is highly sensitive and specific for breast carcinoma, especially TNBC. Here, we compared the utility of TRPS1 and GATA3 expression in a subset of salivary gland–type breast tumors (including adenoid cystic, acinic cell, and secretory
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Gradual and synergistic correlation of tumor thickness and histological grade in penile invasive carcinomas Hum. Pathol. (IF 3.3) Pub Date : 2024-01-24 Isabel Alvarado-Cabrero, María José Fernández-Nestosa, Raquel Valencia-Cedillo, César Urizar, Sofía Cañete Portillo, Diego F. Sánchez, Antonio L. Cubilla
Histological grade and depth of invasion are among the best outcome pathological predictors in penile cancer. The TNM system is based on a combination of both for some stages. It is assumed that high-grade and deep tumors carry the worst prognosis, and the opposite occurs with superficial and low-grade neoplasms. However, there is no systematic evaluation of the phenomenon. We studied 147 patients
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Histologic patterns in prostatic adenocarcinoma are not predictive of mutations in the homologous recombination repair pathway Hum. Pathol. (IF 3.3) Pub Date : 2024-01-24 Jon Mahlow, Marc Barry, Daniel J. Albertson, Yeon Jung Jo, Michael Balatico, Tori Seasor, Georges Gebrael, Shruti A. Kumar, Nicolas Sayegh, Nishita Tripathi, Neeraj Agarwal, Umang Swami, Deepika Sirohi
Somatic or germline homologous recombination repair (HRR) pathway gene mutations are commonly detected in prostate cancer, especially in advanced disease, and are associated with response to poly (ADP-ribose) polymerase (PARP) inhibitors. In this study, we evaluated whether histological patterns are predictive of HRR pathway gene mutations. The study population comprised 130 patients with advanced
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PD-L1 testing in metastatic triple-negative breast cancer: Interobserver and interplatform reproducibility of CE-IVD assays for CPS and IC scores Hum. Pathol. (IF 3.3) Pub Date : 2024-01-24 Mariia Ivanova, Chiara Frascarelli, Bruna Cerbelli, Maria Gemma Pignataro, Angelina Pernazza, Konstantinos Venetis, Elham Sajjadi, Carmen Criscitiello, Giuseppe Curigliano, Elena Guerini-Rocco, Paolo Graziano, Maurizio Martini, Giulia d’Amati, Nicola Fusco
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Differentiated high grade thyroid carcinomas: Diagnostic consideration and clinical features Hum. Pathol. (IF 3.3) Pub Date : 2024-01-19 I. Tondi Resta, M.A. Gubbiotti, K.T. Montone, V.A. Livolsi, Z.W. Baloch
Background Differentiated high-grade thyroid carcinomas (DHGTCs) are a new diagnostic entity most recently defined in the 2022 World Health Organization's (WHO) Classification of Endocrine and Neuroendocrine Tumors. This new entity has been minimally described in the literature, and additional cases classified as such are missing. Materials and methods Cases of DHGTCs diagnosed at our institution from
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Non-neoplastic bone, joint, and soft tissue pathology: What every pathologist should know Hum. Pathol. (IF 3.3) Pub Date : 2024-01-17 Michael J. Klein
The diagnosis of bone and soft tissue tumors is a skill which requires experience across multiple disciplines while their incidence is small. By contrast, the numbers of patients with non-tumorous diseases of bones, soft tissues, and joints dwarfs primary tumors by several orders of magnitude. The ability to successfully diagnose non-neoplastic diseases requires a knowledge of bone development, structure
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TERT promoter mutations in atypical melanocytic lesions: A series of seven cases with adverse melanoma-specific outcome Hum. Pathol. (IF 3.3) Pub Date : 2024-01-13 Reed Huber, Jonathan Lee, Lisa Borretta, Basile Tessier-Cloutier, Amy Lum, Stephen Yip, Basil A. Horst
The majority of melanocytic proliferations can be readily categorized as benign or malignant based on histologic assessment under the microscope by a trained dermatopathologist. However, a subset of lesions, termed Atypical Melanocytic Proliferations (AMPs), are histologically ambiguous, leading to possible diagnostic error and suboptimal treatment. Mutations in the promoter region of the catalytic
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Characterization of sessile serrated adenomas with dysplasia including intramucosal adenocarcinoma and colorectal carcinoma with a microsatellite instability phenotype Hum. Pathol. (IF 3.3) Pub Date : 2024-01-11 Tamotsu Sugai, Noriyuki Uesugi, Mistumasa Osakabe, Takashi Yao, Naoki Yanagawa, Yoichi Ajioka
Recent studies have shown that sessile serrated lesions (SSLs) lead to the development of colorectal cancer (CRC) with a microsatellite instability (MSI) phenotype via a dysplasia-carcinoma sequence. However, the pathological and molecular mechanisms of SSL with dysplasia (SSLD) are unclear. Here, we aimed to examine the clinicopathological and molecular alterations in SSLD and to evaluate the significance
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Digitally assessed lymphocyte infiltration in rectal cancer biopsies is associated with pathological response to neoadjuvant therapy Hum. Pathol. (IF 3.3) Pub Date : 2023-12-28 Dea Natalie Munch Jepsen, Henrik Høeg, Michael Bzorek, Adile Orhan, Jens Ole Eriksen, Ismail Gögenur, Björn Reiss, Anne-Marie Kanstrup Fiehn
A frequently used treatment strategy in locally advanced rectal cancer (RC) is neoadjuvant therapy followed by surgery. Patients treated with neoadjuvant therapy achieve varying pathological response, and currently, predicting the degree of response is challenging. This study examined the association between digitally assessed histopathological features in the diagnostic biopsies and pathological response
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Quantification of collagen content and stromal cellularity within reactive stroma is predictive of prostate cancer biochemical recurrence and specific death Hum. Pathol. (IF 3.3) Pub Date : 2023-12-28 Yi Ding, Ping Bu, Binara Assylbekova, Samuel Ruder, Brian Miles, Mohammad Sayeeduddin, Minjae Lee, Gustavo Ayala
Semiquantitative reactive stromal grading has been shown to be a predictor of biochemical recurrence and prostate cancer (PCa) specific death. It has been extensively validated. In this study we tested novel technologies to introduce quantitative measures of host response, in particular collagen content and stromal cellularity. We use 3 large retrospective cohorts, the Baylor College of Medicine cohort
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Prevalence of Chlamydia infection detected by immunohistochemistry in patients with anorectal ulcer and granulation tissue Hum. Pathol. (IF 3.3) Pub Date : 2023-12-28 Xin He, Sindha Madhav, Lloyd Hutchinson, Xiuling Meng, Andrew Fischer, Karen Dresser, Michelle Yang
Anorectal ulcer with granulation tissue is typically associated with left-sided inflammatory bowel disease or infection. Due to emerging cases of Chlamydia proctitis, we aim to investigate the prevalence of Chlamydia infection using immunohistochemistry (IHC) in anorectal biopsies showing ulcer and granulation tissue. Seventy-seven patients including 60 males and 17 females with mean age of 51 years
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Molecular characterization of large cell calcifying sertoli cell tumors: A multi-institutional study of 6 benign and 2 malignant tumors Hum. Pathol. (IF 3.3) Pub Date : 2023-12-27 Eman Abdulfatah, Khaleel I. Al-Obaidy, Dan Robinson, Yi-Mi Wu, Amer Heider, Muhammad T. Idrees, Thomas M. Ulbright, Lakshmi Pryia Kunju, Angela Wu
Large cell calcifying Sertoli cell tumors (LCCSCTs) are rare testicular tumors, representing <1 % of all testicular neoplasms. Almost 40 % of patients with LCCSCTs will present in the context of the inherited tumor predisposition syndrome, the Carney complex. While most LCCSCTs are benign, 10–20 % have malignant behavior. The aim of our study was to analyze LCCSCTs for novel molecular alterations in
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Next generation sequencing-based identification of fusion-driven renal neoplasia: A single institution experience Hum. Pathol. (IF 3.3) Pub Date : 2023-12-23 Burak Tekin, Christopher D. Hofich, Beth A. Pitel, J. Kenneth Schoolmeester, Rumeal D. Whaley, Aditya Raghunathan, Kingsley Ebare, Melissa L. Stanton, Jordan P. Reynolds, Vidit Sharma, R. Houston Thompson, Stephen A. Boorjian, Bradley C. Leibovich, Loren P. Herrera Hernandez, Rafael E. Jimenez, John C. Cheville, Rhett P. Ketterling, Katherine B. Geiersbach, Patricia T. Greipp, William R. Sukov, Sounak
Abstract not available
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Atypical lipomatous tumor/well differentiated liposarcoma and related mimics with updates. When is molecular testing most cost-effective, necessary, and indicated? Hum. Pathol. (IF 3.3) Pub Date : 2023-12-21 Scott E. Kilpatrick
The classification and work-up of adipocytic neoplasms remains challenging and sometimes controversial. Since its initial description by Dr. Enterline, the variety of subtypes and morphological appearances considered to represent the spectrum of atypical lipomatous tumor/well differentiated liposarcoma (ALT/WDL) has expanded, resulting in significant morphologic overlap with other entities, including
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Rhabdomyosarcoma: Updates on classification and the necessity of molecular testing beyond immunohistochemistry Hum. Pathol. (IF 3.3) Pub Date : 2023-12-21 Carina A. Dehner, Erin R. Rudzinski, Jessica L. Davis
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and adolescents under the age of 20. The current World Health Organization (WHO) classification for soft tissue and bone tumors recognizes 4 distinct subtypes of RMS based on clinicopathological and molecular genetic features: embryonal, alveolar, spindle cell/sclerosing and pleomorphic subtypes. However, with the increased use
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Update on immunohistochemistry in bone and soft tissue tumors: Cost-effectively replacing molecular testing with immunohistochemistry Hum. Pathol. (IF 3.3) Pub Date : 2023-12-20 Craig Wakefield, Jason L. Hornick
Soft tissue tumors form part of a challenging domain in diagnostic pathology owing to their comparative rarity, astonishing histologic diversity, and overlap between entities. Many of these tumors are now known to be defined by highly recurrent, or, in some instances, unique molecular alterations. Insights from gene profiling continue to elucidate the wider molecular landscape of soft tissue tumors;
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Systematic assessment of tumor necrosis at baseline in cervical cancer - An independent factor associated with poor outcome Hum. Pathol. (IF 3.3) Pub Date : 2023-12-20 Olfa Chouchane-Mlik, Alexandra Oniga, Aurélien Latouche, Maral Halladjian, Felix B. Kleine-Borgmann, Jean-Jacques Gérardy, Michel Mittelbronn, Maud Kamal, Suzy M. Scholl
Cervical cancer (CC) is a leading challenge in oncology worldwide, with high prevalence and mortality rates in young adults, most prominent in low to middle-income countries with marginal screening facilities. From the prospectively collected BioRAIDS (NCT02428842) cohort of primary squamous CC conducted in 7 European countries, a central pathology review was carried out on 294 patients’ tumors. The
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Clinical impact of perineural invasion encircled completely vs. incompletely by prostate cancer on needle core biopsy Hum. Pathol. (IF 3.3) Pub Date : 2023-12-20 Julum Nwanze, Yuki Teramoto, Ying Wang, Hiroshi Miyamoto
The clinical significance of the pattern or degree of perineural invasion (PNI) by prostate cancer remains largely unknown. We herein assessed radical prostatectomy findings and postoperative oncologic outcomes in 125 patients who had undergone systematic sextant prostate biopsy exhibiting only a single focus of PNI encircled completely (n = 57; 46 %) vs. incompletely (n = 68; 54 %) by cancer. Between
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TRPS1 expression in primary and metastatic prostatic adenocarcinoma, muscle invasive bladder urothelial carcinoma, and breast carcinoma: Is TRPS1 truly specific and sensitive for a breast primary? Hum. Pathol. (IF 3.3) Pub Date : 2023-12-03 S. Emily Bachert, Jing Di, Shengyi Zhang, Heather E. Short, Dava W. Piecoro, Robert J. McDonald, Zin W. Myint, Patrick J. Hensley, Derek B. Allison
Trichorhinophalangeal syndrome type 1 (TRPS1) has been reported to be a sensitive and specific immunohistochemical (IHC) marker for breast carcinomas, especially when determining primary site of origin. However, there is limited data on TRPS1 expression in prostate and bladder cancers. A two-phase study was performed with 1) an exploratory cohort analyzing TRPS1 gene alterations in prostate, bladder
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TRPS1 expression in primary and secondary extramammary Paget diseases: An immunohistochemical analysis of 93 cases Hum. Pathol. (IF 3.3) Pub Date : 2023-11-23 Yi A. Liu, Katrina Collins, Phyu P. Aung, Priyadharsini Nagarajan, Jonathan L. Curry, Victor G. Prieto, Carlos A. Torres-Cabala, Woo Cheal Cho
Extramammary Paget disease (EMPD) predominantly manifests de novo as primary EMPD, with less than 30 % of cases associated with underlying internal malignancy (secondary EMPD). Differentiating primary from secondary EMPDs based solely on histopathology poses challenges, often necessitating supplementary screening, such as endoscopy or imaging studies, to definitively exclude underlying carcinomas like
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Molecular and clinicopathological features of granzyme B-negative extranodal NK/T-cell lymphoma Hum. Pathol. (IF 3.3) Pub Date : 2023-11-23 Minh-Khang Le, Naoki Oishi, Akira Satou, Masashi Miyaoka, Ichiro Kawashima, Kunio Mochizuki, Keita Kirito, Andrew L. Feldman, Naoya Nakamura, Tetsuo Kondo
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Clinicopathological features and molecular genetic changes in 17 cases of uterine tumor resembling ovarian sex cord tumor Hum. Pathol. (IF 3.3) Pub Date : 2023-11-23 Chen Qijun, Wang Wei, Wang Cheng, Liang Dongni
Uterine tumor resembling ovarian sex cord tumor (UTROSCT) is a rare mesenchymal neoplasm that was recently reported to exhibit recurrent NCOA1-3rearrangement with the most frequent partners ESR1 and GREB1. In this study, the clinicopathological characteristics of 17 UTROSCT cases were summarized; among them, the fusion genes of 12 cases were retrospectively analyzed by targeted RNA sequencing. The
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Malignant female genital tract smooth muscle tumors with adipocytic differentiation: A morphologic, immunohistochemical, MDM2 fluorescence in situ hybridization and molecular genetic study of 6 lipoleiomyosarcomas Hum. Pathol. (IF 3.3) Pub Date : 2023-11-23 Amy A. Swanson, Michael Michal, Deyin Xing, Nooshin K. Dashti, Vladimir Židlík, E. Heidi Cheek-Norgan, Matthew E. Keeney, Gary L. Keeney, William R. Sukov, Sounak Gupta, Marisa R. Nucci, J. Kenneth Schoolmeester
Leiomyosarcoma with adipocytic differentiation or lipoleiomyosarcoma is an uncommon sarcoma of the female genital tract with only a few individual reports in the literature. We therefore performed a morphologic, immunohistochemical, MDM2 gene amplification and RNA and DNA sequencing analysis of a series of gynecologic lipoleiomyosarcoma to better define the clinicopathologic spectrum. Six tumors from
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Gastric metaplasia as a precursor of nonconventional dysplasia in inflammatory bowel disease Hum. Pathol. (IF 3.3) Pub Date : 2023-11-23 Eva Musulen, Míriam Gené, Míriam Cuatrecasas, Irene Amat, Jesús Alberto Veiga, María Jesús Fernández-Aceñero, Victòria Fusté Chimisana, Jordi Tarragona, Ismael Jurado, Rebeca Fernández-Victoria, Carolina Martínez-Ciarpaglini, Cristina Alenda González, Carlos Zac, María Teresa Fernández-Figueras, Manel Esteller
Gastric metaplasia in colonic mucosa with inflammatory bowel disease (IBD) develops as an adaptation mechanism. The association between gastric metaplasia and nonconventional and/or conventional dysplasia as precursors of colitis-associated colorectal cancer is unknown. To address this question, we retrospectively reviewed a series of 33 IBD colectomies to identify gastric metaplasia in 76 precursor
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Prognostic value of mitotic count in leiomyosarcoma: A comprehensive monocentric retrospective study Hum. Pathol. (IF 3.3) Pub Date : 2023-11-23 Maria Susanna Grimaudo, Salvatore Lorenzo Renne, Piergiuseppe Colombo, Laura Giordano, Nicolò Gennaro, Alice Laffi, Umberto Cariboni, Ferdinando Carlo Maria Cananzi, Laura Ruspi, Armando Santoro, Alexia Francesca Bertuzzi
Background Leiomyosarcomas (LMSs) include heterogeneous entities with different clinical courses not entirely predicted by known prognostic factors. In particular, the value of mitotic count as independent prognostic factor in LMS has been poorly investigated. Methods We retrospectively analyzed all patients with a diagnosis of LMS who accessed to our Institution from June 1999 to May 2022 for which
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Spectrum of histopathologic findings in risk-reducing bilateral prophylactic mastectomy in patients with and without BRCA mutations Hum. Pathol. (IF 3.3) Pub Date : 2023-11-22 Baris Boyraz, Amy Ly
Many germline mutations have been implicated in breast cancer pathogenesis and despite several studies on occult atypical lesions in prophylactic mastectomy specimens from patients with BRCA1/2 mutations, there are very limited data on other genes associated with increased breast cancer risk and the distribution of lesions in patients with hereditary breast cancer. We identified 207 patients who underwent
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CSF1 expression in xanthogranulomatous epithelial tumor/keratin-positive giant cell-rich tumor Hum. Pathol. (IF 3.3) Pub Date : 2023-11-20 Carina A. Dehner, Ying-Chun Lo, Shefali Chopra, Elizabeth G. Demicco, Kevin He, Angela C. Hirbe, Andrew L. Folpe, John S.A. Chrisinger
“Xanthogranulomatous epithelial tumor” (XGET) and “keratin-positive giant cell-rich soft tissue tumor” (KPGCT), two recently described mesenchymal neoplasms, likely represent different aspects of a single entity. Both tumors are composed of only a small minority of tumor cells surrounded by large numbers of non-neoplastic inflammatory cells and histiocytes, suggesting production of a paracrine factor
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High overall copy number variation burden by genome-wide methylation profiling holds negative prognostic value in surgically treated pancreatic ductal adenocarcinoma Hum. Pathol. (IF 3.3) Pub Date : 2023-11-17 Sönke Detlefsen, Henning Bünsow Boldt, Mark Burton, Mikkel Marschall Thomsen, Lukas Gammelgaard Rasmussen, Siri Vreim Ørbeck, Per Pfeiffer, Michael Bau Mortensen, Karin de Stricker
Pancreatic ductal adenocarcinoma (PDAC) is an aggressive type of cancer with an overall 5-year survival of around 10 %. New prognostic tools to stratify patients are needed. Our main aim was to evaluate the prognostic value of overall copy number variation (CNV) burden in surgically treated PDAC. DNA extracted from 108 surgical PDAC specimens was examined to collect data on the DNA methylation status
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HER2 categorical changes after neoadjuvant chemotherapy: A study of 192 matched breast cancers with the inclusion of HER2-Low category Hum. Pathol. (IF 3.3) Pub Date : 2023-11-17 Cansu Karakas, Haley Tyburski, Bradley M. Turner, Anna Weiss, Sajal Medha K. Akkipeddi, Ajay Dhakal, Kristin Skinner, David G. Hicks, Huina Zhang
Understanding the changes of HER2 expression after neoadjuvant chemotherapy (NAC) in breast cancer (BC) is more important than ever, since it may allow more patients to access the effective therapeutic drugs targeting HER2-low BC. 192 matched pre- and post-NAC BCs were analyzed. HER2 immunohistochemistry (IHC) was re-evaluated with consensus according to the current ASCO/CAP guidelines. Tumors were
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Identification of amyloidosis of the urinary tract and prostate: Opportunities for early diagnosis & intervention in systemic disease Hum. Pathol. (IF 3.3) Pub Date : 2023-11-17 Sarwat I. Gilani, Surendra Dasari, Burak Tekin, Loren Herrera Hernandez, John C. Cheville, Rafael E. Jimenez, Karen L. Rech, Linda N. Dao, Matthew T. Howard, Joanna C. Dalland, April Chiu, Jason D. Theis, Julie A. Vrana, Martha Grogan, R. Houston Thompson, Bradley C. Leibovich, R. Jeffrey Karnes, Stephen A. Boorjian, Angela Dispenzieri, Ellen D. McPhail, Sounak Gupta
Objectives To determine the prevalence of different amyloid types and frequency of associated systemic amyloidosis in the urinary tract/prostate. Methods We studied Congo red-positive prostate (n = 150) and urinary tract (n = 767) specimens typed by a proteomics-based method between 2008 and 2020. Clinical follow up was available for a subset (urinary tract, n = 111; prostate, n = 17). Amyloid types