Journal of Pathology and Translational Medicine

Volume 55(4); July 2021

Reviews

Distinctive morphological and molecular features of urothelial carcinoma with an inverted growth pattern: Francesca Sanguedolce, Beppe Calò, Marco Chirico, Ugo Falagario, Gian Maria Busetto, Magda Zanelli, Alessandra Bisagni, Maurizio Zizzo, Stefano Ascani, Giuseppe Carrieri, Luigi Cormio; J Pathol Transl Med. 2021;55(4):239-246. Published online June 14, 2021; DOI: https://doi.org/10.4132/jptm.2021.04.20

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Urothelial carcinoma with an inverted growth pattern (UC-IGP) is a peculiar entity within the spectrum of urothelial lesions. While efforts have been made over the last few decades to unravel its carcinogenesis and relationship with conventional urothelial carcinoma, the exact classification of inverted urothelial lesions is a matter of debate. The morphological features of UC-IGP pose several issues in differential diagnosis with other mostly benign lesions. Various techniques, including immunohistochemistry, UroVysion, and many molecular methods, have been employed to study the exact nature of this lesion. The aim of this review is to provide a comprehensive overview of the morphological and immunophenotypical aspects of UC-IGP. Moreover, we present and discuss the immunohistochemical and molecular markers involved in diagnosis and prognosis of UC-IGP lesions.

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HER2 Expression in Bladder Cancer: A Focused View on Its Diagnostic, Prognostic, and Predictive Role
Francesca Sanguedolce, Magda Zanelli, Andrea Palicelli, Alessandra Bisagni, Maurizio Zizzo, Stefano Ascani, Maria Carmela Pedicillo, Angelo Cormio, Ugo Giovanni Falagario, Giuseppe Carrieri, Luigi Cormio
International Journal of Molecular Sciences.2023; 24(4): 3720. CrossRef
Proteomic-Based Machine Learning Analysis Reveals PYGB as a Novel Immunohistochemical Biomarker to Distinguish Inverted Urothelial Papilloma From Low-Grade Papillary Urothelial Carcinoma With Inverted Growth
Minsun Jung, Cheol Lee, Dohyun Han, Kwangsoo Kim, Sunah Yang, Ilias P. Nikas, Kyung Chul Moon, Hyeyoon Kim, Min Ji Song, Bohyun Kim, Hyebin Lee, Han Suk Ryu
Frontiers in Oncology.2022;[Epub] CrossRef

Standardization of the pathologic diagnosis of appendiceal mucinous neoplasms: Dong-Wook Kang, Baek-hui Kim, Joon Mee Kim, Jihun Kim, Hee Jin Chang, Mee Soo Chang, Jin-Hee Sohn, Mee-Yon Cho, So-Young Jin, Hee Kyung Chang, Hye Seung Han, Jung Yeon Kim, Hee Sung Kim, Do Youn Park, Ha Young Park, So Jeong Lee, Wonae Lee, Hye Seung Lee, Yoo Na Kang, Younghee Choi; J Pathol Transl Med. 2021;55(4):247-264. Published online July 8, 2021; DOI: https://doi.org/10.4132/jptm.2021.05.28

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Abstract PDF Supplementary Material

Although the understanding of appendiceal mucinous neoplasms (AMNs) and their relationship with disseminated peritoneal mucinous disease have advanced, the diagnosis, classification, and treatment of AMNs are still confusing for pathologists and clinicians. The Gastrointestinal Pathology Study Group of the Korean Society of Pathologists (GPSG-KSP) proposed a multicenter study and held a workshop for the “Standardization of the Pathologic Diagnosis of the Appendiceal Mucinous Neoplasm” to overcome the controversy and potential conflicts. The present article is focused on the diagnostic criteria, terminologies, tumor grading, pathologic staging, biologic behavior, treatment, and prognosis of AMNs and disseminated peritoneal mucinous disease. In addition, GPSG-KSP proposes a checklist of standard data elements of appendiceal epithelial neoplasms to standardize pathologic diagnosis. We hope the present article will provide pathologists with updated knowledge on how to handle and diagnose AMNs and disseminated peritoneal mucinous disease.

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Lower Gastrointestinal Bleeding Secondary to Appendiceal Mucinous Neoplasm: A Report of Two Cases and a Review of the Literature
Jesús Omar Soto Llanes, Samanta Kin Dosal Limón, Ana Jimena Iberri Jaime, Mario Zambrano Lara, Billy Jiménez Bobadilla
Cureus.2024;[Epub] CrossRef
Appendiceal perforation secondary to endometriosis with intestinal metaplasia: A case report
Minghua Wang, Jing Liu, Boxin Hu, Simin Wang, Ping Xie, Ping Li
Experimental and Therapeutic Medicine.2023;[Epub] CrossRef
Primary and secondary tumors of the peritoneum: key imaging features and differential diagnosis with surgical and pathological correlation
Javier Miguez González, Francesc Calaf Forn, Laura Pelegrí Martínez, Pilar Lozano Arranz, Rafael Oliveira Caiafa, Jordi Català Forteza, Lina Maria Palacio Arteaga, Ferrán Losa Gaspà, Isabel Ramos Bernadó, Pedro Barrios Sánchez, Juan Ramón Ayuso Colella
Insights into Imaging.2023;[Epub] CrossRef
Muzinöse Tumoren des Peritoneums
Anne Kristin Fischer, Andrea Tannapfel, Alexander Quaas
Die Chirurgie.2023; 94(10): 823. CrossRef
Landscape of Genetic Mutations in Appendiceal Cancers
Marian Constantin, Cristina Mătanie, Livia Petrescu, Alexandra Bolocan, Octavian Andronic, Coralia Bleotu, Mihaela Magdalena Mitache, Sorin Tudorache, Corneliu Ovidiu Vrancianu
Cancers.2023; 15(14): 3591. CrossRef
Delivery of an Incidental Appendiceal Mucinous Neoplasm
Madison Bowles, Jessica Y Ng, Hajir Nabi
Cureus.2022;[Epub] CrossRef
Unearthing novel fusions as therapeutic targets in solid tumors using targeted RNA sequencing
Sungbin An, Hyun Hee Koh, Eun Sol Chang, Juyoung Choi, Ji-Young Song, Mi-Sook Lee, Yoon-La Choi
Frontiers in Oncology.2022;[Epub] CrossRef

Palmar and plantar fibromatosis: a review: Brian D. Stewart, Alessandra F. Nascimento; J Pathol Transl Med. 2021;55(4):265-270. Published online July 7, 2021; DOI: https://doi.org/10.4132/jptm.2021.06.14

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Abstract PDF

Palmar fibromatosis (Dupuytren disease/contracture) is the most common type of fibromatosis, defined as a benign proliferation of fibroblasts and myofibroblasts. The disease process is most common in white, middle-aged and older men occurring at the distal palmar crease leading to nodules and contracture, which in many cases recur after surgical treatment. In a similar process, plantar fibromatosis (Ledderhose disease) is a proliferation of fibroblasts and myofibroblasts on the plantar aponeurosis of mostly middle-aged patients that may lead to painful nodules but usually does not lead to contracture. Both processes are histologically similar, composed of a bland cellular proliferation of spindle cells with a bluish appearance and with a variable amount of background collagen, depending on the age of the lesion. The etiology of both lesions is still uncertain, while treatment ranges from observation to surgery, with some pharmacologic agents being investigated with mixed success. In this paper we provide an overview of both processes with regards to clinical and radiologic findings, pathophysiology, diagnosis, treatment, and prognosis.

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A nodule on the foot
Michaela Thielen, Joshua Luciew, Brittany Strelow
JAAPA.2024; 37(4): 47. CrossRef
Prevalence of and Risk Factors for Adhesive Capsulitis of the Shoulder in Older Adults from Germany
Louis Jacob, Razak M. Gyasi, Ai Koyanagi, Josep Maria Haro, Lee Smith, Karel Kostev
Journal of Clinical Medicine.2023; 12(2): 669. CrossRef
Soft Tissue Masses of the Hand: A Review of Clinical Presentation and Imaging Features
Samuel AbuMoussa, Mona Pari Roshan, Felipe Ferreira Souza, Dane Daley, Andrew Rosenberg, Juan Pretell, Natalia Fullerton, Ty Subhawong
Current Oncology.2023; 30(2): 2032. CrossRef
Advanced Dupuytren Contracture
Jill Putnam
Hand Clinics.2023; 39(3): 455. CrossRef
Clinicopathological spectrum of lumps and bumps on the hand: A 5-year retrospective study
Kaumudi Konkay, Poola Neelima, Nugala Sindhura, Padmavathi Devi Chaganti
Journal of Clinical and Scientific Research.2023; 12(2): 81. CrossRef
Comorbid Medical Issues in X-Linked Ichthyosis
Lucija Brcic, Georgina H. Wren, Jack F.G. Underwood, George Kirov, William Davies
JID Innovations.2022; 2(3): 100109. CrossRef
The deep fascia and its role in chronic pain and pathological conditions: A review
Flemming Kondrup, Nathaly Gaudreault, Gabriel Venne
Clinical Anatomy.2022; 35(5): 649. CrossRef
Pacinian Corpuscles as a Diagnostic Clue of Ledderhose Disease—A Case Report and Mapping of Pacinian Corpuscles of the Sole
Jorge Feito, Ruth Esteban, María Lourdes García-Martínez, Francisco J. García-Alonso, Raquel Rodríguez-Martín, María Belén Rivas-Marcos, Juan L. Cobo, Benjamín Martín-Biedma, Manuel Lahoz, José A. Vega
Diagnostics.2022; 12(7): 1705. CrossRef

Original Articles

Potential of AKT2 expression as a predictor of lymph-node metastasis in invasive breast carcinoma of no special type: Primariadewi Rustamadji, Elvan Wiyarta, Kristina Anna Bethania, Kusmardi Kusmardi; J Pathol Transl Med. 2021;55(4):271-278. Published online June 14, 2021; DOI: https://doi.org/10.4132/jptm.2021.04.26

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Abstract PDF

Background
Invasive breast carcinoma of no special type (IBC-NST) is the most common type of breast cancer and mainly causes regional lymph-node metastasis (LNM). We investigated the potential for AKT2 expression as a predictive biomarker for LNM in IBC-NST.
Methods
Forty-eight paraffin blocks containing IBC-NST primary tumors were divided into two groups based on presence or absence of LNM. Age, tumor grade, tumor size, lymphovascular invasion (LVI), and AKT expression were assessed. AKT2 expression was assessed based on immunohistochemical staining, while other data were collected from archives.
Results
Multiple logistic regression results showed that AKT2 expression and LVI were significantly associated with LNM (odds ratio [OR], 5.32; 95% confidence interval [CI], 1.42 to 19.93 and OR, 4.46; 95% CI, 1.17 to 16.97, respectively). AKT2 expression was able to discriminate against LNM (area under the receiver operating characteristic, 0.799 ± 0.063; 95% CI, 0.676 to 0.921) at an H-score cutoff of 104.62 (83.3% sensitivity, 62.5% specificity).
Conclusions
AKT2 expression has potential as a predictor of LNM in IBC-NST. The H-score cutoff for AKT2 expression can be used as a classification guide in future studies.

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Association of Src with Nottingham Prognostic Index in Breast Cancer: Implications for Breast Cancer Prognostication
Primariadewi Rustamadji, Elvan Wiyarta
Journal of Nature and Science of Medicine.2024; 7(2): 90. CrossRef
Exploring the Expression of Survivin on Neoadjuvant Chemotherapy in Invasive Breast Carcinoma
Primariadewi Rustamadji, Elvan Wiyarta, Ineke Anggreani
Open Access Macedonian Journal of Medical Sciences.2022; 10(B): 1440. CrossRef
Effect of Omega-3-Rich Fish Oil on TNF-  Expression in Mice's Colonic Tissue Induced with Azoxymethane (AOM) and Dextran Sodium Sulphate (DSS)
Elvan Wiyarta, Kusmardi Kusmardi, Yurnadi Hanafi Midoen
Research Journal of Pharmacy and Technology.2022; : 3179. CrossRef
The potential of lunasin extract for the prevention of breast cancer progression by upregulating E-Cadherin and inhibiting ICAM-1
Kusmardi Kusmardi, Elvan Wiyarta, Numlil Khaira Rusdi, Andi Muh. Maulana, Ari Estuningtyas, Hadi Sunaryo
F1000Research.2021; 10: 902. CrossRef
CD44 Variant Exon 6 Isoform Expression as a Potential Predictor of Lymph Node Metastasis in Invasive Breast Carcinoma of No Special Type
Primariadewi Rustamadji, Elvan Wiyarta, Kristina A. Bethania, Rakesh Sathish Nair
International Journal of Breast Cancer.2021; 2021: 1. CrossRef

Correlation of TTF-1 immunoexpression and EGFR mutation spectrum in non–small cell lung carcinoma: Tripti Nakra, Varsha Singh, Aruna Nambirajan, Prabhat Singh Malik, Anant Mohan, Deepali Jain; J Pathol Transl Med. 2021;55(4):279-288. Published online July 8, 2021; DOI: https://doi.org/10.4132/jptm.2021.05.10

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Abstract PDF

Background
Thyroid transcription factor (TTF-1) is a diagnostic marker expressed in 75%–85% of primary lung adenocarcinomas (ACs). Activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor (EGFR) gene is the most common targetable driver alteration in lung AC. Previous studies have shown a positive correlation between TTF-1 and EGFR mutation status. We aimed to determine the predictive value of TTF-1 immunoexpression for underlying EGFR mutation status in a large Indian cohort.
Methods
This retrospective designed study was conducted with medical record data from 2011 to 2020. All cases of primary lung AC and non–small cell lung carcinoma not otherwise specified (NSCLC, NOS) with known TTF-1 expression diagnosed by immunohistochemistry using 8G7G3/1 antibodies and EGFR mutation status diagnosed by quantitative polymerase chain reaction were retrieved, reviewed, and the
results
were analyzed. Results: Among 909 patient samples diagnosed as lung AC and NSCLC, NOS, TTF-1 was positive in 76.8% cases (698/909) and EGFR mutations were detected in 29.6% (269/909). A strong positive correlation was present between TTF-1 positivity and EGFR mutation status (odds ratio, 3.61; p < .001), with TTF-1 positivity showing high sensitivity (90%) and negative predictive value (87%) for EGFR mutation. TTF-1 immunoexpression did not show significant correlation with uncommon/dual EGFR mutations (odds ratio, 1.69; p = .098). EGFR–tyrosine kinase inhibitor therapy was significantly superior to chemotherapy among EGFR mutant cases irrespective of TTF-1 status; however, no significant differences among survival outcomes were observed.
Conclusions
Our study confirms a strong positive correlation between TTF-1 expression and common EGFR mutations (exon 19 deletion and exon 21 L858R) in advanced lung AC with significantly high negative predictive value of TTF-1 for EGFR mutations.

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Mutation profile and programmed death ligand 1 status of patients with non‐small cell lung cancer diagnosed with “adenocarcinoma” and “non‐small cell carcinoma favor adenocarcinoma”
Naoko Shigeta, Tomoyuki Yokose, Shuji Murakami, Tetsuya Isaka, Kanako Shinada, Emi Yoshioka, Atsuya Narita, Kengo Katakura, Tetsuro Kondo, Terufumi Kato, Takuya Nagashima, Haruhiro Saito, Hiroyuki Ito
Thoracic Cancer.2024; 15(6): 458. CrossRef
Expression landscapes in non-small cell lung cancer shaped by the thyroid transcription factor 1
Herdee Gloriane C. Luna, Marcelo Severino Imasa, Necy Juat, Katherine V. Hernandez, Treah May Sayo, Gloria Cristal-Luna, Sheena Marie Asur-Galang, Mirasol Bellengan, Kent John Duga, Bien Brian Buenaobra, Marvin I. De los Santos, Daniel Medina, Jamirah Sam
Lung Cancer.2023; 176: 121. CrossRef
Malignant pleural effusion cell blocks are reliable resources for PD-L1 analysis in advanced lung adenocarcinomas: a concordance study with matched histologic samples
Swati Mahajan, Aruna Nambirajan, Ishan Gupta, Nalini Gupta, Parikshaa Gupta, Deepali Jain
Journal of the American Society of Cytopathology.2022; 11(5): 253. CrossRef
Clinicopathologic Features and Molecular Biomarkers as Predictors of Epidermal Growth Factor Receptor Gene Mutation in Non-Small Cell Lung Cancer Patients
Lanlan Liu, Xianzhi Xiong
Current Oncology.2021; 29(1): 77. CrossRef

Clinicopathologic features of cutaneous metastases from internal malignancies: Hyeong Mok Kwon, Gyu Yeong Kim, Dong Hoon Shin, Young Kyung Bae; J Pathol Transl Med. 2021;55(4):289-297. Published online July 7, 2021; DOI: https://doi.org/10.4132/jptm.2021.05.24

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Abstract PDF Supplementary Material

Background
Cutaneous metastasis (CM) is the spread of cancer cells from a primary site to the skin and is rarely the first sign of silent cancer. We investigated the clinicopathological characteristics of CM from internal malignancies in Korean patients treated at our institution over 20 years.
Methods
The clinicopathological findings of 112 patients (62 females, 50 males) with CM diagnosed at Yeungnam University Hospital between 2000 and 2020 were retrospectively reviewed.
Results
Mean patient age was 58.6 years (range, 26 to 87 years), and the most common primary cancer site was breast (74.2%) in women and lung (36.0%) in men. Ninety-six patients (85.7%) presented with CM after primary tumor diagnosis. CM from the lung or biliary tract usually occurred within 2 years of primary tumor diagnosis, whereas metastases from the breast and kidney occurred several years later. The chest, abdomen, and scalp were common sites of CM. Breast cancer usually metastasized to chest skin, while gastrointestinal tract cancers commonly metastasized to the abdomen. The scalp was a common location for CM from various tumors. The most common dermatologic presentations were nodules and masses. Immunohistochemical studies helped identify underlying malignancies when primary tumors were unknown.
Conclusions
The relative frequency of CM parallels the overall incidence of primary malignant tumors, and CMs usually occur at anatomic sites close to the primary tumor. CM can be diagnosed based on clinical, radiological, and histological features; however, immunohistochemical study is required in some cases.

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A Mirror of Metastatic Destiny – A Case Series of Cutaneous Metastases
Rochelle Monteiro, Monisha Madhumita, Hemanth Kumar, Jacintha Martis
Clinical Dermatology Review.2024; 8(1): 58. CrossRef
Nonbrain metastases seen on magnetic resonance imaging during metastatic brain tumor screening
Mio Sakai, Nobuo Kashiwagi, Katsuyuki Nakanishi, Noboru Maeda, Yasuhiro Nakaya, Junichiro Tanaka, Shinichiro Watanabe, Hidenari Hongyo, Yu Tanaka, Sawaka Yamada, Atsushi Kawata, Sou Toda, Koji Takano, Hideyuki Arita, Noriyuki Tomiyama
Japanese Journal of Radiology.2023; 41(4): 367. CrossRef
Cutaneous Metastasis as a Diagnostic Prelude in a 48-year-old Female
Nagatoshi M. Ebisawa, Isabel G. Palabyab-Imperial, Leilani R. Senador, Luella Joy A. Escueta-Alcos
Journal of the Philippine Dermatological Society.2023; 32(2): 107. CrossRef
Pigmented epidermotropic breast cancer metastases: A rare variant with a particularly unusual feature
Juan Torre‐Castro, Cristina Moya‐Martínez, Lara Haya‐Martínez, María Dolores Mendoza‐Cembranos, Itziar Eraña‐Tomás, Luis Requena
Journal of Cutaneous Pathology.2022; 49(1): 99. CrossRef
Skin metastases in the clinical and dermoscopic aspects
Grazyna Kamińska-Winciorek, Aleksandra Pilśniak, Wojciech Piskorski, Jerzy Wydmański
Seminars in Oncology.2022; 49(2): 160. CrossRef
Dermoscopy and novel non invasive imaging of Cutaneous Metastases
Dimitrios Alexandris, Nektarios Alevizopoulos, Leonidas Marinos, Charikleia Gakiopoulou
Advances in Cancer Biology - Metastasis.2022; 6: 100078. CrossRef

Case Study

Sarcomatoid urothelial carcinoma arising in the female urethral diverticulum: Heae Surng Park; J Pathol Transl Med. 2021;55(4):298-302. Published online June 1, 2021; DOI: https://doi.org/10.4132/jptm.2021.04.23

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Abstract PDF

A sarcomatoid variant of urothelial carcinoma in the female urethral diverticulum has not been reported previously. A 66-year-old woman suffering from dysuria presented with a huge urethral mass invading the urinary bladder and vagina. Histopathological examination of the resected specimen revealed predominantly undifferentiated pleomorphic sarcoma with sclerosis. Only a small portion of conventional urothelial carcinoma was identified around the urethral diverticulum, which contained glandular epithelium and villous adenoma. The patient showed rapid systemic recurrence and resistance to immune checkpoint inhibitor therapy despite high expression of programmed cell death ligand-1. We report the first case of urethral diverticular carcinoma with sarcomatoid features.

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Reprint of: Female Urethral Carcinoma: A contemporary review of the clinicopathologic features, with emphasis on the histo-anatomic landmarks and potential staging issues
Maria Sarah Lagarde-Lenon, Manju Aron
Human Pathology.2023; 133: 126. CrossRef
Female Urethral Diverticula: a Contemporary Narrative Review of Aetiology, Diagnosis, and Treatment
A. U. Nic an Ríogh, S. Monagas Arteaga, L. Tzelves, M. Karavitakis, A. K. Nambiar
Current Bladder Dysfunction Reports.2022; 17(4): 250. CrossRef
Female urethral carcinoma: a contemporary review of the clinicopathologic features, with emphasis on the histoanatomic landmarks and potential staging issues
Maria Sarah Lagarde-Lenon, Manju Aron
Human Pathology.2022; 129: 71. CrossRef

Brief Case Report

Metastatic gastric cancer of the testis diagnosed through urine cytology: Mee Sook Roh, Song-Hee Han; J Pathol Transl Med. 2021;55(4):303-305. Published online June 1, 2021; DOI: https://doi.org/10.4132/jptm.2021.04.19

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Gastric‐type adenocarcinoma of the uterine cervix presenting in urine cytology specimens: A case report and literature review
Kyung‐Hwa Lee, Nah Ihm Kim, Jong‐Hee Nam, Sung Sun Kim
Diagnostic Cytopathology.2024;[Epub] CrossRef

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