keyword
https://read.qxmd.com/read/38609754/expanding-the-cytological-and-architectural-spectrum-of-mucoepidermoid-carcinoma-the-key-to-solving-diagnostic-problems-in-morphological-variants
#1
REVIEW
Shinnichi Sakamoto, Kentaro Kikuchi
Mucoepidermoid carcinoma (MEC) is the most common malignant salivary gland tumor. Varying sized cysts and sheets composed of three cell types (epidermoid, intermediate, and mucous cells) with varying degrees of atypia form the characteristic histological appearance of MEC. MEC frequently contains a wide variety of modified tumor cells and can be entirely cystic or completely solid. Under these circumstances, MEC requires critical differentiation from many mimickers, ranging from simple cysts and benign tumors to high-grade carcinomas...
April 3, 2024: Seminars in Diagnostic Pathology
https://read.qxmd.com/read/38604799/-acute-lymphoblastic-leukemia-with-inv-11-q21q23-3-kmt2a-maml2-fusion-gene-progressed-to-acute-myeloid-leukemia-a-case-report
#2
JOURNAL ARTICLE
Y Zhang, J B Ni, Q J Zhang, S Hui, C F Wang, T Wang
No abstract text is available yet for this article.
February 14, 2024: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://read.qxmd.com/read/38581034/cns-tumors-with-plagl1-fusion-beyond-zfta-and-yap1-in-the-genetic-spectrum-of-supratentorial-ependymomas
#3
JOURNAL ARTICLE
Arnault Tauziède-Espariat, Yvan Nicaise, Philipp Sievers, Felix Sahm, Andreas von Deimling, Delphine Guillemot, Gaëlle Pierron, Mathilde Duchesne, Myriam Edjlali, Volodia Dangouloff-Ros, Nathalie Boddaert, Alexandre Roux, Edouard Dezamis, Lauren Hasty, Benoît Lhermitte, Edouard Hirsch, Maria Paola Valenti Hirsch, François-Daniel Ardellier, Mélodie-Anne Karnoub, Marie Csanyi, Claude-Alain Maurage, Karima Mokhtari, Franck Bielle, Valérie Rigau, Thomas Roujeau, Marine Abad, Sébastien Klein, Michèle Bernier, Catherine Horodyckid, Clovis Adam, Petter Brandal, Pitt Niehusmann, Quentin Vannod-Michel, Corentin Provost, Nicolas Menjot de Champfleur, Lucia Nichelli, Alice Métais, Cassandra Mariet, Fabrice Chrétien, Thomas Blauwblomme, Kévin Beccaria, Johan Pallud, Stéphanie Puget, Emmanuelle Uro-Coste, Pascale Varlet
A novel methylation class, "neuroepithelial tumor, with PLAGL1 fusion" (NET-PLAGL1), has recently been described, based on epigenetic features, as a supratentorial pediatric brain tumor with recurrent histopathological features suggesting an ependymal differentiation. Because of the recent identification of this neoplastic entity, few histopathological, radiological and clinical data are available. Herein, we present a detailed series of nine cases of PLAGL1-fused supratentorial tumors, reclassified from a series of supratentorial ependymomas, non-ZFTA/non-YAP1 fusion-positive and subependymomas of the young...
April 5, 2024: Acta Neuropathologica Communications
https://read.qxmd.com/read/38576804/left-lower-lobe-sleeve-resection-for-the-clear-cell-variant-of-pulmonary-mucoepidermoid-carcinoma-a-case-report
#4
Xiao-Hui Yu, Wen-Xiang Wang, De-Song Yang, Liang-Hui Gong
BACKGROUND: Pulmonary mucoepidermoid carcinoma (PMEC) is a rare malignancy that arises from minor salivary glands within the tracheobronchial tree. The clear cell variant of PMEC is exceptionally uncommon and presents notable diagnostic challenges, primarily attributable to its morphological similarity to other tumors containing clear cells. CASE SUMMARY: A 22-year-old male, formerly in good health, came in with a two-month duration of persistent cough and production of sputum...
March 16, 2024: World Journal of Clinical Cases
https://read.qxmd.com/read/38525087/low-grade-mucoepidermoid-carcinoma-mimicking-benign-cystic-lesions-in-the-salivary-gland-a-diagnostic-dilemma
#5
Wangpan Shi, Timothy Law, Kevin Thomas Brumund, Jennifer Chang, Charmi Patel, Grace Lin, Jingjing Hu
Mucoepidermoid carcinoma (MEC) is a common malignancy arising in the parotid gland. The diagnosis of MEC is typically based on its morphological features alone, characteristically containing mucocytes, intermediate cells and epidermoid cells. However, when cystic degeneration is diffuse, it is challenging to distinguish MEC from other benign cystic tumors. This is a case report of a 58-year-old Caucasian man who presented with a parotid mass. H&E sections of the mass reveal multiloculated cysts lined by bland-looking epithelium with only rare papillary architectures...
2024: Rare Tumors
https://read.qxmd.com/read/38429827/re-evaluating-a-historic-cohort-of-sinonasal-and-skull-base-mucoepidermoid-carcinoma-an-institutional-experience
#6
JOURNAL ARTICLE
Chunyan Hu, Lan Lin, Ming Ye, Yifeng Liu, Qiang Huang, Cuncun Yuan, Ji Sun, Hui Sun
AIMS: Primary mucoepidermoid carcinomas (MECs) of the sinonasal tract and nasopharynx are rare entities that represent a diagnostic challenge, especially in biopsy samples. Herein, we present a case series of MECs of the sinonasal and skull base and its mimics to evaluate the clinicopathological and molecular characteristics in order to avoid misdiagnosis. METHODS: We reviewed the pathology records of patients diagnosed from 2014 to 2022. Thirty MECs were consecutively diagnosed during that period...
March 1, 2024: Diagnostic Pathology
https://read.qxmd.com/read/38427106/comprehensive-analysis-of-dna-methylation-gene-expression-profiles-in-geo-dataset-reveals-biomarkers-related-to-malignant-transformation-of-sinonasal-inverted-papilloma
#7
JOURNAL ARTICLE
Li Mu, Shun Hu, Guoping Li, Ping Wu, Ke Zheng, Sheng Zhang
BACKGROUND: DNA methylation may be involved in the regulation of malignant transformation from sinonasal inverted papilloma (SNIP) to squamous cell carcinoma (SCC). The study of gene methylation changes and screening of differentially methylated loci (DMLs) are helpful to predict the possible key genes in the malignant transformation of SNIP-SCC. MATERIALS AND METHODS: Microarray dataset GSE125399 was downloaded from the Gene Expression Omnibus (GEO) database and differentially methylated loci (DMLs) were analyzed using R language (Limma package)...
March 1, 2024: Discover. Oncology
https://read.qxmd.com/read/38417405/pitfalls-in-salivary-gland-cytology
#8
REVIEW
Carla Saoud, Gabrielle Bailey, Ashleigh Graham, Lorena Marcano Bonilla, Sandra Sanchez, Zahra Maleki
BACKGROUND: Salivary gland lesions possess diagnostic challenges on fine needle aspiration (FNA) material. They are relatively uncommon, yet present with a wide spectrum of cytomorphology. Herein, we review common salivary gland neoplasms, their cytomorphologic features, their diagnostic pitfalls, and ancillary studies helpful in achieving an accurate diagnosis. SUMMARY: There are many cytomorphologic overlaps between benign and malignant salivary gland entities...
February 28, 2024: Acta Cytologica
https://read.qxmd.com/read/38394503/a-high-grade-breast-mucoepidermoid-carcinoma-without-maml2-rearrangement-a-case-report-and-literature-review
#9
REVIEW
Liangliang Wang, Dan Cheng, Huaying Wang, Lin Cheng, Xiaorong Zhang
INTRODUCTION: Mucoepidermoid carcinoma (MEC) of the breast is an extremely rare primary breast tumor. Between 1979 and June 2022, only 50 cases were reported. The pathological morphology and biological behavior of breast MEC remain poorly understood. PATIENT CONCERNS: A 47-year-old female was presented with a 10-day-old left breast mass detected by physical examination. DIAGNOSES: Ultrasonography could not distinguish whether the breast tumor was benign or malignant...
February 23, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38315854/phase-separation-of-yap-maml2-differentially-regulates-the-transcriptome
#10
JOURNAL ARTICLE
Chan-I Chung, Junjiao Yang, Xiaoyu Yang, Hongjiang Liu, Zhimin Ma, Frank Szulzewsky, Eric C Holland, Yin Shen, Xiaokun Shu
Phase separation (PS) drives the formation of biomolecular condensates that are emerging biological structures involved in diverse cellular processes. Recent studies have unveiled PS-induced formation of several transcriptional factor (TF) condensates that are transcriptionally active, but how strongly PS promotes gene activation remains unclear. Here, we show that the oncogenic TF fusion Yes-associated protein 1-Mastermind like transcriptional coactivator 2 (YAP-MAML2) undergoes PS and forms liquid-like condensates that bear the hallmarks of transcriptional activity...
February 13, 2024: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/38304779/maml2-gene-rearrangement-occurs-in-all-warthin-like-mucoepidermoid-carcinoma-a-reappraisal-in-a-series-of-29-cases
#11
JOURNAL ARTICLE
Xi Wang, Lingchao Liu, Huiying He, Binbin Li
BACKGROUND: Warthin-like Mucoepidermoid carcinoma (MEC) is a new and rare morphological variant of MEC, with only a few case reports in the literature. The clinicopathological, molecular features and bio-behaviors of Warthin-like MEC has not been studied extensively. We reappraisal all Warthin-like MEC patients diagnosed and treated at our hospital. METHODS: Patient characteristics including clinicopathological features, genetic aberrations, treatment, and prognostic information were assessed and evaluated...
January 30, 2024: Heliyon
https://read.qxmd.com/read/38303810/mucoepidermoid-carcinoma-arising-from-a-glandular-odontogenic-cyst-of-posterior-maxilla-and-further-development-into-a-radiation-induced-second-primary-squamous-cell-carcinoma
#12
JOURNAL ARTICLE
Yin-Chen Chen, Yi-Ping Wang, Min-Shu Hsieh, Julia Yu-Fong Chang
No abstract text is available yet for this article.
January 2024: Journal of Dental Sciences
https://read.qxmd.com/read/38298294/sclerosing-odontogenic-carcinoma-with-a-prominent-clear-cell-component-mimicking-odontogenic-clear-cell-carcinoma-an-extremely-rare-case-with-a-fatal-clinical-outcome
#13
Fa-Chih Shen, Katsumitsu Shimada, Rita R Roy, Yutaka Kitamura, Hiromasa Hasegawa
Sclerosing odontogenic carcinoma (SOC) is an exceedingly rare odontogenic carcinoma known for its locally aggressive yet indolent behavior. There have been no reports of metastasis to distant organs, except a single case involving lymph node metastasis. This report details the case of a 49-year-old female who presented with a well-demarcated radiolucent lesion in the mandible, accompanied by root resorption and tooth displacement. Microscopically, the lesion exhibited a distinctive composition, with two distinct components: cords of epithelium embedded within an abundant collagenous stroma and solid nests of clear polygonal cells surrounded by hyalinized stroma...
January 2024: Curēus
https://read.qxmd.com/read/38243319/genomics-and-tumor-microenvironment-of-breast-mucoepidermoid-carcinoma-based-on-whole-exome-and-rna-sequencing
#14
JOURNAL ARTICLE
Yan Ge, Xingtao Lin, Jiao He, Wendan Chen, Danyi Lin, Yihong Zheng, Lingling Yang, Fangping Xu, Zhi Li
Mammary mucoepidermoid carcinoma (MEC) is a rare entity. The molecular characteristics of breast MEC have not been fully investigated due to its rarity. We performed a retrospective study among 1000 patients with breast carcinomas and identified four cases of breast MEC. Clinical and demographic data were collected. Immunohistochemistry panels which were used to diagnose salivary gland MEC and breast carcinomas were also performed. MAML2 rearrangements were detected by FISH and fusion partners were identified by RNA sequencing...
January 19, 2024: Diagnostic Pathology
https://read.qxmd.com/read/38096983/a-complex-interplay-between-notch-effectors-and-%C3%AE-catenin-signaling-in-morular-differentiation-of-endometrial-carcinoma-cells
#15
JOURNAL ARTICLE
Ako Yokoi, Akari Murayama, Miki Hashimura, Yasuko Oguri, Yohei Harada, Naomi Fukagawa, Misato Hayashi, Mototsugu Ono, Kensuke Ohhigata, Makoto Saegusa
Notch signaling contributes to tissue development and homeostasis, but little is known about its roles in morular differentiation of endometrial carcinoma (Em Ca) cells. The current study focused on crosstalk between Notch and β-catenin signaling in Em Ca with morules. Promoters of hairy and enhancer of split 1 (Hes1) and mastermind-like 2 (MAML2) were activated by Notch intracellular domain 1 but not β-catenin; we also observed a positive feedback loop between Hes1 and MAML2. Immunoreactivities for nuclear β-catenin, Hes1, and MAML2, as well as the interaction between β-catenin and Hes1 or MAML2, were significantly higher in morular lesions compared with surrounding carcinoma in Em Ca...
December 12, 2023: American Journal of Pathology
https://read.qxmd.com/read/38091884/heterogeneity-in-pd-l1-expression-in-maml2-rearranged-mucoepidermoid-carcinoma
#16
JOURNAL ARTICLE
Bacem Abdullah, Osama A M Al Qeshty, Sherif Y El-Nagdy, Lawahez El Ismail
OBJECTIVE: Mucoepidermoid carcinoma (MEC) is a malignant tumor with diverse morphologies, some of which have poor prognostic indicators and others that challenge the grading system. This study investigated the expression of PD-L1 in different grades and phenotypes of MEC. METHODS: The present study was carried out on twenty-four archival formalin-fixed, paraffin-embedded blocks of salivary MEC. Fluorescence in situ hybridization was used to detect MAML2 rearrangement in MEC cases to be included...
January 2024: Pathology, Research and Practice
https://read.qxmd.com/read/38088454/spindle-cell-porocarcinoma-with-a-novel-yap1-maml3-fusion
#17
Philippa Li, Klaus J Busam
Porocarcinomas are rare sweat gland cancers representing the malignant counterpart to benign poromas. Their diagnosis can be challenging, especially in the absence of an associated poroma or when the tumor is poorly differentiated. Since recurrent YAP1::MAML2 and YAP1::NUTM1 fusions have been identified in poroid tumors, molecular studies provide an opportunity to support the diagnosis in challenging cases. We describe a case of a female patient in her early 90s, with a polypoid mass of the hip. Histopathologically, there was a poorly differentiated malignant spindle cell tumor adjacent to a poroma...
December 13, 2023: Journal of Cutaneous Pathology
https://read.qxmd.com/read/38084644/nr1d1-rearranged-soft-tissue-tumour-a-clinicopathological-and-molecular-analysis-of-four-additional-cases
#18
JOURNAL ARTICLE
Tangchen Yin, Peipei Zhu, I Weng Lao, Lin Yu, Qianming Bai, Xiaoyan Zhou, Jian Wang
AIMS: Nuclear receptor subfamily 1 group D member 1 (NR1D1)-rearranged soft tissue tumour is a newly described entity with an epithelioid morphology and a potential for aggressive behaviour. Largely due to under-recognition, this tumour type has not yet been widely acknowledged. Herein, we report four additional cases to further expand its clinicopathological and molecular spectrum. METHODS AND RESULTS: Four mesenchymal tumours with NR1D1 rearrangement were identified from our consultation files...
March 2024: Histopathology
https://read.qxmd.com/read/38067300/the-role-of-gene-fusions-in-thymic-epithelial-tumors
#19
REVIEW
Anja C Roden
Thymic epithelial tumors (TET) are rare and large molecular studies are therefore difficult to perform. However, institutional case series and rare multi-institutional studies have identified a number of interesting molecular aberrations in TET, including gene fusions in a subset of these tumors. These gene fusions can aid in the diagnosis, shed light on the pathogenesis of a subset of tumors, and potentially may provide patients with the opportunity to undergo targeted therapy or participation in clinical trials...
November 27, 2023: Cancers
https://read.qxmd.com/read/38058040/-clinicopathological-and-molecular-features-of-metaplastic-thymoma
#20
JOURNAL ARTICLE
X Wang, R S Zhang, R Li, S B Ye, Q Li, H Chen, Q Y Xia, N Wu, Q Rao
Objective: To investigate the clinicopathological features, and molecular genetic alterations of metaplastic thymoma (MT). Methods: A total of ten MT cases, diagnosed from 2011 to 2021, were selected from the Department of Pathology of Jinling Hospital, Nanjing University Medical School, Nanjing, China for clinicopathological and immunohistochemical (IHC) examination and clinical follow-up. Fluorescence in situ hybridization (FISH), next-generation sequencing (NGS), and YAP1 C-terminus (YAP1-CT) IHC were performed to detect YAP1::MAML2 fusions...
December 8, 2023: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
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