Pathology

Article Medicine, Research & Experimental

Integration of RNA Sequencing, Whole Exome Sequencing, and Flow Cytometry Into Routine Diagnostic Workup of Pediatric Lymphomas

Marijn A. Scheijde-Vermeulen, Lennart A. Kester, Liset Westera, Bastiaan B. J. Tops, Friederike A. G. Meyer-Wentrup

Summary: This study aimed to evaluate the feasibility of integrating state-of-the-art sequencing techniques and flow cytometry into the diagnostic workup of pediatric lymphoma. The results showed that this integration is not only feasible but also provides additional diagnostic information.

LABORATORY INVESTIGATION (2024)

Article Pathology

Inflammatory Rhabdomyoblastic Tumor: Clinicopathologic and Molecular Analysis of 13 Cases

Toru Odate, Kaishi Satomi, Takashi Kubo, Yuko Matsushita, Toshihide Ueno, Akira Kurose, Kohei Shomori, Tokiko Nakai, Reiko Watanabe, Keiko Segawa, Shusa Ohshika, Naritomo Miyake, Sayaka Kudo, Tatsunori Shimoi, Eisuke Kobayashi, Motokiyo Komiyama, Seiichi Yoshimoto, Fumihiko Nakatani, Akira Kawai, Yasushi Yatabe, Shinji Kohsaka, Koichi Ichimura, Hitoshi Ichikawa, Akihiko Yoshida

Summary: Inflammatory rhabdomyoblastic tumors (IRMTs) are newly recognized skeletal muscle tumors with uncertain malignant potential. This study investigated 13 IRMTs using clinicopathologic, genetic, and epigenetic methods. The results showed specific histologic features and genetic mutations in these tumors, and most of them exhibited benign behavior.

MODERN PATHOLOGY (2024)

Article Pathology

Investigation of the methylation changes in the promoter region of RB1 gene in retinoblastoma: Unraveling the epigenetic puzzle in retinoblastoma

Ozge Sukruoglu Erdogan, Demet Akdeniz Odemis, Zubeyde Yalniz Kayim, Orkun Gurbuz, Seref Bugra Tuncer, Seda Kilic, Betul Celik, Samuray Tuncer, Sema Buyukkapu Bay, Rejin Kebudi, Hulya Yazici

Summary: This study found that methylation of the RB1 gene promoter does not influence the hereditary transmission of familial retinoblastoma.

PATHOLOGY RESEARCH AND PRACTICE (2024)

Review Pathology

From inflammation to metastasis: The central role of miR-155 in modulating NF-κB in cancer

Syam Mohan, Mohammed Ageeli Hakami, Hamad Ghaleb Dailah, Asaad Khalid, Asim Najmi, Khalid Zoghebi, Maryam A. Halawi, Thaifallah Munahi Alotaibi

Summary: Cancer is a complex disease caused by multiple factors, and miR-155 plays a significant role as a regulator of the NF-kappa B signaling pathway, contributing to cancer development and progression.

PATHOLOGY RESEARCH AND PRACTICE (2024)

Article Medicine, Research & Experimental

Characterization of Immune Cell Populations of Cutaneous Neurofibromas in Neurofibromatosis 1

Roope A. Kallionpaa, Sirkku Peltonen, Kim My Le, Eija Martikkala, Mira Jaaskelainen, Elnaz Fazeli, Pilvi Riihila, Pekka Haapaniemi, Anne Rokka, Marko Salmi, Ilmo Leivo, Juha Peltonen

Summary: This study investigated the immune microenvironment of cutaneous neurofibromas (cNFs) in patients with neurofibromatosis 1 (NF1). The results showed that cNFs have substantial populations of T cells and macrophages, which may be tumor-specific. T cell populations in cNFs were found to be different from those in the skin, and cNFs exhibited lower expression of proteins related to T cell-mediated immunity compared to the skin.

LABORATORY INVESTIGATION (2024)

Article Pathology

TESC acts as a prognostic factor and promotes epithelial-mesenchymal transition progression in esophageal squamous carcinoma

Yanxin Dong, Boshi Fan, Mingyang Li, Jiale Zhang, Shun Xie, Shouyin Dia, Qingge Jia, Taiqian Gong

Summary: Tescalcin (TESC) is upregulated in esophageal squamous carcinoma (ESCC) and is associated with poor prognosis, tumor infiltration, staging, and lymph node metastasis. TESC promotes proliferation, invasion, migration, and epithelial-mesenchymal transition (EMT) progression in ESCC, as well as activates the AKT pathway. TESC may serve as a prognostic factor and provide a new therapeutic strategy for ESCC.

PATHOLOGY RESEARCH AND PRACTICE (2024)

Article Pathology

Testicular Neoplasms With Sex Cord and Stromal Components Harbor a Recurrent Pattern of Chromosomal Gains

Andres M. Acosta, Lynette M. Sholl, Fiona Maclean, Chia-Sui Kao, Thomas M. Ulbright

Summary: This study assessed the clinicopathologic and genomic features of 14 cases of testicular sex cord-stromal tumors. The results showed that CTNNB1 mutations are rare in these tumors, and most of them have genomic alterations similar to testicular sex cord-stromal tumors with pure or predominant spindle cell components.

MODERN PATHOLOGY (2024)

Article Pathology

Dynamic tuft cell expansion during gastric metaplasia and dysplasia

Bogun Jang, Hyesung Kim, Su-Hyung Lee, Yoonkyung Won, Izumi Kaji, Robert J. Coffey, Eunyoung Choi, James R. Goldenring

Summary: Tuft cell populations increase in atrophic human gastric pathologies, metaplasia, and dysplasia, but decrease in gastric cancers. Similar findings were observed in mouse models, suggesting that, while tuft cells are associated with precancerous pathologies, their loss is most associated with the progression to invasive cancer.

JOURNAL OF PATHOLOGY CLINICAL RESEARCH (2023)

Letter Pathology

What is the role of membrane-located epithelial cell transforming sequence 2 at the interphase of lung adenocarcinoma cells?

Yoshihiko Murata, Ai Yoshida, Yuko Minami, Zeinab Kosibaty, Daisuke Matsubara, Masayuki Noguchi

PATHOLOGY INTERNATIONAL (2023)

Article Pathology

The first autopsy case of Epstein-Barr virus-positive marginal zone lymphoma that deteriorated after COVID-19 vaccination

Ziyao Wang, Reiji Muto, Hiroaki Miyoshi, Mikiko Aoki, Noriko Uesugi, Hiroyuki Murayama, Kosuke Masutani, Makoto Hamasaki

Summary: This is the first autopsy case of EBV + MZL that deteriorated after SARS-CoV-2 vaccination, presenting with a unique immunophenotype and severe pathological changes.

PATHOLOGY INTERNATIONAL (2023)

Letter Pathology

Reply to Noncanonical CALR variants

Kritika Krishnamurthy

AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2023)

Article Cell Biology

Primary mucinous adenocarcinoma of the urethra: A clinicopathological analysis of 35 cases

Rongbin Ge, Jing Zhang, Min Lu, Yuchuan Shi, Shi Yan, Zixuan Xue, Zongwei Wang, Antonio Lopez-Beltran, Liang Cheng

Summary: Primary mucinous adenocarcinoma of the urethra is an extremely rare entity. This study characterized the clinicopathological, immunohistochemical and molecular features of 35 cases, providing crucial insights into its diagnosis, management and potential targeted treatments. The study identified a greater sensitivity to CDX2, SATB2 and CDH17 in these tumors for the first time, and identified characteristics such as an MSI-low profile, non-V600E BRAF mutations and an absence of ALK rearrangements.

HISTOPATHOLOGY (2023)

Article Clinical Neurology

Characterization of cerebellar amyloid-β deposits in Alzheimer disease

Gianluca Lopez, Shino D. Magaki, Christopher Kazu Williams, Annlia Paganini-Hill, Harry V. Vinters

Summary: Cerebellar amyloid-beta (Aβ) plaques in Alzheimer's disease are under-characterized and their relationship with other pathological findings is largely undefined. This study characterizes the deposition of Aβ-42 in the cerebellum and its association with Purkinje cell loss. The findings suggest a link between Aβ deposition and cerebellar damage in Alzheimer's disease.

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY (2023)

Letter Cell Biology

Lessons from genomic profiling: towards a molecular-based classification of ovarian Sertoli-Leydig cell tumour

Felix K. F. Kommoss

Summary: Based on the mutational status of DICER1, currently available molecular data suggest a dichotomous classification of Sertoli-Leydig cell tumors (SLCTs), providing a possible roadmap towards a molecular-based classification of SLCT.

HISTOPATHOLOGY (2023)

Article Pathology

Swiss digital pathology recommendations: results from a Delphi process conducted by the Swiss Digital Pathology Consortium of the Swiss Society of Pathology

Andrew Janowczyk, Inti Zlobec, Cedric Walker, Sabina Berezowska, Viola Huschauer, Marianne Tinguely, Joel Kupferschmid, Thomas Mallet, Doron Merkler, Mario Kreutzfeldt, Radivoje Gasic, Tilman T. Rau, Luca Mazzucchelli, Isgard Eyberg, Gieri Cathomas, Kirsten D. Mertz, Viktor H. Koelzer, Davide Soldini, Wolfram Jochum, Matthias Roessle, Maurice Henkel, Rainer Grobholz

Summary: The integration of digital pathology (DP) into clinical diagnostic workflows is being emphasized as new hardware and software become available. To facilitate DP adoption, the Swiss Digital Pathology Consortium (SDiPath) organized a Delphi process and generated a series of recommendations for DP integration. Through the collaboration of four working groups, the process produced 83 consensus statements, providing up-to-date resources and best practices to ensure safe and efficient DP usage for national and international hospitals, researchers, and device manufacturers.

VIRCHOWS ARCHIV (2023)

Article Dermatology

Melanocyte colonization and pigmentation of breast carcinoma: A case report

Mahyar Khazaeli, Vijaya Kadam Maruthi, Sharlene See, Theodore Ondracek, Pedram Gerami

Summary: Pigmented mammary Paget disease is a rare variant of mammary Paget disease that is often misdiagnosed as a melanocytic lesion. Careful morphological assessment and adequate immunohistochemical stains can help to achieve the correct diagnosis and avoid misdiagnosis as malignant melanoma.

JOURNAL OF CUTANEOUS PATHOLOGY (2023)

Article Pathology

Shedding light on PRAME expression in dysplastic nevi: a cohort study

Lorenzo Innocenti, Rosa Scarpitta, Serena Corraro, Valerio Ortenzi, Angelo G. Bonadio, Barbara Loggini, Katia De Ieso, Antonio G. Naccarato, Giuseppe N. Fanelli, Cristian Scatena

Summary: This study explores the expression of PRAME in dysplastic nevi and its potential diagnostic value. The results show heterogeneous expression profiles of PRAME in dysplastic nevi, and PRAME positivity effectively distinguishes high-grade dysplastic nevi from cutaneous melanomas. However, the applicability of PRAME in the differential diagnosis of dysplastic lesions remains unclear as it can yield conflicting results with morphology.

VIRCHOWS ARCHIV (2023)

Article Clinical Neurology

Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia

Laura R. Nementzik, Kyrah M. Thumbadoo, Helen C. Murray, David Gordon, Shu Yang, Ian P. Blair, Clinton Turner, Richard L. M. Faull, Maurice A. Curtis, Catriona McLean, Garth A. Nicholson, Molly E. V. Swanson, Emma L. Scotter

Summary: In UBQLN2-linked cases of ALS/FTD, ubiquilin 2 aggregates that are negative for TDP-43 are predominantly found in various regions of the central nervous system, while they are not present in sporadic ALS. Additionally, the presence of large diffuse striatal ubiquilin 2 aggregates is specific to UBQLN2-linked cases of ALS/FTD. Overall, the symptoms in UBQLN2-linked cases are more closely associated with the aggregation of TDP-43.

BRAIN PATHOLOGY (2023)

Review Pathology

Molecular pathology of endocrine gland tumors: genetic alterations and clinicopathologic relevance

Antonio De Leo, Martina Ruscelli, Thais Maloberti, Sara Coluccelli, Andrea Repaci, Dario de Biase, Giovanni Tallini

Summary: This review discusses the main molecular alterations of tumors in endocrine glands such as the anterior pituitary, thyroid and parathyroid glands, adrenal cortex, and adrenal medulla and paraganglia. It examines the correlation between genotype and phenotype in endocrine gland tumors and how high-throughput molecular analysis can group them into relevant molecular groups for pathologic and clinical purposes. The review also addresses the use of genetic alterations as molecular biomarkers for diagnosis, prognosis, and predicting response to molecular therapy, as well as the role of hereditary conditions in predisposition to endocrine tumors.

VIRCHOWS ARCHIV (2023)