Journal of Pathology and Translational Medicine

Original Article

TRPS1 expression in non-melanocytic cutaneous neoplasms: an immunohistochemical analysis of 200 cases: Yi A. Liu, Phyu P. Aung, Yunyi Wang, Jing Ning, Priyadharsini Nagarajan, Jonathan L. Curry, Carlos A. Torres-Cabala, Doina Ivan, Victor G. Prieto, Qingqing Ding, Woo Cheal Cho; J Pathol Transl Med. 2024;58(2):72-80. Published online February 26, 2024; DOI: https://doi.org/10.4132/jptm.2024.01.23

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Background
Although trichorhinophalangeal syndrome type 1 (TRPS1) was initially thought to be highly sensitive and specific for carcinomas and mesenchymal tumors of mammary origin, more recent data suggest its expression is not limited to breast neoplasms but also can be seen in other cutaneous neoplasms, such as extramammary Paget disease and squamous cell carcinoma (SCC) in situ.
Methods
Two-hundred cases of non-melanocytic cutaneous neoplasm, including basal cell carcinomas (BCCs) (n = 41), SCCs (n = 35), Merkel cell carcinomas (MCCs) (n = 25), and adnexal neoplasms (n = 99), were tested for TRPS1 expression using a monoclonal anti- TRPS1 rabbit anti-human antibody.
Results
TRPS1 expression was present in almost all cases of SCC (94%), with a median H-score of 200, while it was either absent or only focally present in most BCCs (90%), with a median H-score of 5. The difference between BCCs and SCCs in H-score was significant (p < .001). All MCCs (100%) lacked TRPS1 expression. TRPS1 expression was frequently seen in most adnexal neoplasms, benign and malignant, in variable intensity and proportion but was consistently absent in apocrine carcinomas. All endocrine mucin-producing sweat gland carcinomas (EMPSGCs) (100%, 6/6) showed diffuse and strong TRPS1 immunoreactivity, with a median H-score of 300, which was significantly different (p < .001) than that of BCCs.
Conclusions
Our study shows that TRPS1 may be an effective discriminatory marker for BCCs and SCCs. It also has a role in distinguishing BCCs from EMPSGCs.

Citations

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TRPS1 Expression Is Frequently Seen in a Subset of Cutaneous Mesenchymal Neoplasms and Tumors of Uncertain Differentiation: A Potential Diagnostic Pitfall
Moon Joo Kim, Yi A. Liu, Yunyi Wang, Jing Ning, Woo Cheal Cho
Dermatopathology.2024; 11(3): 200. CrossRef
TRPS1 expression in MPNST is correlated with PRC2 inactivation and loss of H3K27me3
Rossana Lazcano, Davis R. Ingram, Gauri Panse, Alexander J. Lazar, Wei-Lien Wang, Jeffrey M. Cloutier
Human Pathology.2024; 151: 105632. CrossRef
Syringocystadenoma Papilliferum-Like Features in Poroma: An Unusual Morphologic Pattern of Poroma or True Synchronous Occurrence of 2 Distinct Neoplasms?
Mouaz Alsawas, Fiorinda F. Muhaj, Phyu P. Aung, Priyadharsini Nagarajan, Woo Cheal Cho
The American Journal of Dermatopathology.2024; 46(12): 871. CrossRef
A Comprehensive Review of TRPS1 as a Diagnostic Immunohistochemical Marker for Primary Breast Carcinoma: Latest Insights and Diagnostic Pitfalls
Antonia-Carmen Georgescu, Tiberiu-Augustin Georgescu, Simona-Alina Duca-Barbu, Lucian Gheorghe Pop, Daniela Oana Toader, Nicolae Suciu, Dragos Cretoiu
Cancers.2024; 16(21): 3568. CrossRef
Expression of TRPS1 in Metastatic Tumors of the Skin: An Immunohistochemical Study of 72 Cases
Kassiani Boulogeorgou, Christos Topalidis, Triantafyllia Koletsa, Georgia Karayannopoulou, Jean Kanitakis
Dermatopathology.2024; 11(4): 293. CrossRef

Case Study

Different Protein Expressions between Peripheral Ameloblastoma and Oral Basal Cell Carcinoma Occurred at the Same Mandibular Molar Area: Yeon Sook Kim, Suk Keun Lee; Korean J Pathol. 2014;48(2):151-158. Published online April 28, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.2.151

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Abstract PDF

Peripheral ameloblastoma (PA) in gingiva is rare and often confused with oral basal cell carcinoma (OBCC). The tissues of one case of PA and one case of OBCC with the same mandibular molar area affected were compared via an immunohistochemical examination using 50 antisera. The PA and OBCC showed similar proliferation of basaloid epithelial strands, but toluidine blue staining revealed that the PA had pinkish juxta-epithelial myxoid tissue, whereas the OBCC was infiltrated by many mast cells. Immunohistochemical comparisons showed that the PA was strongly positive for ameloblastin, KL1, p63, carcinoembryonic antigen, focal adhesion kinase, and cathepsin K, and slightly positive for amelogenin, Krox-25, E-cadherin, and PTCH1, whereas the OBCC was not. On the other hand, the OBCC was strongly positive for EpCam, matrix metalloprotease (MMP)-1, α1-antitrypsin, cytokeratin-7, p53, survivin, pAKT1, transforming growth factor-β1, NRAS, TGase-1, and tumor nescrosis factor-α, and consistently positive for β-catenin, MMP-2, cathepsin G, TGase-2, SOS-1, sonic hedgehog, and the β-defensins-1, -2, -3, while the PA was not. These data suggest that the tumorigeneses of PA and OBCC differ, and that PAs undergo odontogenic differentiation and generate oncogenic signals for infiltrative growth and bone resorption, whereas OBCCs undergo basaloid epidermal differentiation as a result of growth factor/cytokine-related oncogenic signals.

Citations

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Immunohistochemical Analysis of Dentigerous Cysts and Odontogenic Keratocysts Associated with Impacted Third Molars—A Systematic Review
Luis Almeida, David Lloyd, Daniel Boettcher, Olivia Kraft, Samuel Zammuto
Diagnostics.2024; 14(12): 1246. CrossRef
Role of HIF-1α in Ameloblastoma: A Systematic Review
Ayushi Jain, Pooja Sharma, N Sivakumar, Priya Devi, Shalini Gupta, Shaleen Chandra
Indian Journal of Otolaryngology and Head & Neck Surgery.2023; 75(4): 3136. CrossRef
Expression of ameloblastin in the human tooth germ and ameloblastoma
Suganya Panneer Selvam, Irulandy Ponniah
Oral Diseases.2018; 24(8): 1538. CrossRef
The Use of BEREP4 Immunohistochemistry Staining for Detection of Basal Cell Carcinoma
Anthony Paulo Sunjaya, Angela Felicia Sunjaya, Sukmawati Tansil Tan
Journal of Skin Cancer.2017; 2017: 1. CrossRef
Peripheral ameloblastoma of the mandible: A case report
Takahiro Kaneko, Satoshi Nakamura, Ryutarou Kawano, Norio Horie, Tetsuo Shimoyama
Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology.2016; 28(6): 565. CrossRef

Case Report

Sporadic Cutaneous Keratocyst without Nevoid Basal Cell Carcinoma Syndrome: Report of 1 Case.: Hye Won Lee, Ji Young Park, Sun Hee Kang, Misun Choe; Korean J Pathol. 2011;45(3):322-325.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.3.322

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Abstract PDF

A cutaneous keratocyst is very rare and is ordinarily associated with nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome. NBCCS is a rare autosomal-dominant disorder that results from the mutation in the patched homologue 1 (PTCH1) gene located on chromosome 9q22.3, with high penetrance and variable expressivity. NBCCS demonstrates multisystem manifestations such as multiple basal cell carcinomas in early age, jaw cysts and pits of the hands and feet. Cutaneous keratocysts are characteristically lined by festooned keratinized squamous epithelium with parakeratosis. The cystic wall contains neither granular cell layer nor skin appendages. To the best of our knowledge, only two cases of cutaneous keratocysts not associated with NBCCS have been reported to date. We report one another case of a histologically confirmed cutaneous keratocyst in a 50-year-old female without a family history and clinical features of NBCCS.

Citations

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Sporadic Cutaneous Keratocyst of the Scalp: A Report of an Extremely Rare Lesion
Rana S AL-Zaidi, Eyad Tantawi, Rahaf AL-Radadi, Asrar Banjar
Cureus.2021;[Epub] CrossRef
A Large Extragnathic Keratocystic Odontogenic Tumour
Soumya Makarla, Radhika M. Bavle, Sudhakara Muniswamappa, Srinath Narasimhamurthy
Case Reports in Pathology.2015; 2015: 1. CrossRef

Original Articles

p53 Expression in the Head and Neck Tumor.: Chae Hong Suh, Mi Sook Lee, Sin Eui Yoon; Korean J Pathol. 1996;30(7):576-586.

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Abstract PDF: Mutations in the p53 gene seem to be the most common genetic changes in human malignancies. Mutation or altered p53 expression is a common occurrence in many solid neoplasms, including head and neck carcinomas. Recent studies have also shown p53 alterations in several premalignant conditions of the colon, esophagus, lung, and brain. Preliminary data have suggested that p53 mutations may be involved in tumor progression. This study was performed to determine the incidence of p53 mutations in histologically 27 squamous cell carcinomas, 19 basal cell carcinomas, 18 Schneiderian papillomas, 3 Schneiderian papillomas with malignant transformation, and 15 pleomorphic adenomas of the head and neck region. The degree of p53 gene overexpression was also evaluated according to differentiation, histologic type of tumor, and tumor progression in the head and neck carcinomas. The results were as follows; 1) Eighteen of 27 squamous cell carcinomas, and 4 of 27 dysplasias adjacent to the squamous cell carcinoma of the head and neck expressed p53 protein, but none of the normal control specimens expressed detectable p53 protein. There was no relationship between differentiation of squamous cell carcinoma and p53 protein expression. 2) Twelve of 19 basal cell carcinomas expressed p53 protein; the adenoid type especially overexpressed p53 protein. 3) Nine of 15 pleomorphic adenomas expressed p53 protein especially in the epithelial components. 4) Thirteen of 18 Schneiderian papillomas and all Schneiderian papillomas with malignant transformation expressed p53 protein. The above results indicate that the p53 protein expression is a useful tool for the prediction of tumor progression in the head and neck tumor, but there was no relationship between the differentiation of the tumor and p53 protein expression.

Expression of bcl-2 and c-myc Proteins in Epidermal and Melanocytic Tumors.: Young Ha Oh, Chan Kum Park, Jung Dal Lee; Korean J Pathol. 1996;30(9):810-818.

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Abstract PDF: bcl-2 and c-myc protein expression were studied in 44 epidermal (8 seborrheic keratoses, 21 squamous cell carcinomas, and 15 basal cell carcinomas), and 26 melanocytic tumors(8 nevi, and malignant melanomas) by immunohistochemistry using the specific anti-bcl-2 and anti-c-myc monoclonal antibodies. 14 out of 15 basal cell carcinomas(BCC) (93.3%) showed expression of bcl-2 protein, 12 of which (85.7%) showed coexpression of c-myc protein. In the melanocytic tumors, 7 out of 8 nevi showed bcl-2 expression (87.5%). Five of these 7 cases (62.5%) also showed c-myc protein expression. Eight of 18 malignant melanomas(MM) (44.4%) showed expression of bcl-2 protein and 7 of these 8 cases (38.9%) also showed c-myc protein expression. All seborrheic keratoses and squamous cell carcinoma(SCC) were negative for bcl-2 proteins. 12 of 15 SCCs(80%) were positive for c-myc protein. In conclusion, bcl-2 and c-myc proteins were coexpressed in BCCs, nevi, and MMs. Coexpression of bcl-2 and c-myc proteins in these tumors was statistically significant(p<0.01), while no considerable differences of bcl-2 and c-myc expression were found between nevi and MMs. These results suggests that bcl-2 may cooperate with c-myc to promote tumorigenesis of BCCs, nevi, and MMs(p<0.01).

Case Report

Adenoid Basal Cell Tumor of the Prostate: A case report.: Joo Heon Kim, Woo Sung Moon, Myoung Jae Kang, Dong Geun Lee, Jae Y Ro; Korean J Pathol. 2000;34(7):534-536.

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Abstract PDF: Adenoid basal cell tumor of the prostate is a rare tumorous lesion that can be misdiagnosed as adenocarcinoma of the prostate. The malignant potential of adenoid basal cell tumor remains uncertain due to small number of reported cases. This 66-year-old man presented with symptoms of urinary tract obstruction. Under the impression of benign prostatic hyperplasia, a transurethral resection of the prostate (TURP) was performed. The patient was alive with no evidence of recurrence or metastasis 15 months after TURP. Microscopically, most of the lesions were composed of nodular collections of small nests of basaloid cells with peripheral palisading, and clusters of tumor cells forming cribriform pattern. Multiple areas of basal cell hyperplasia and atypical basal cell hyperpalsia were also observed. The coexistence of basal cell hyperplasia, atypical basal cell hyperpalsia, and adenoid basal cell tumor with cribriform pattern in this case supports a morphologic continuum from the benign hyperplastic lesion to malignant neoplasia.

Original Article

Expression of p63,bcl-2,bcl-6 and p16 in Basal Cell Carcinoma and Squamous Cell Carcinoma of the Skin.: Zhenlong Zheng, Youngchul Kye, Xianglan Zhang, Aeree Kim, Insun Kim; Korean J Pathol. 2005;39(2):91-98.

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Abstract PDF: BACKGROUND
Basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) are the common malignant neoplasms of the skin. The p63 is a p53 homologue which is considered to be a reliable keratinocyte stem cell marker. Bcl-2 plays a key role in cell longevity by preventing apoptosis, whereas the bcl-6 gene functions as a transcriptional repressor. The p16-CDK4/6 complex arrests the cell cycle at G0 /G1 phase. In the present study, the expression of p63, bcl-2, bcl-6, and p16 in BCC and SCC was evaluated.
METHODS
Forty-seven BCCs and 43 SCCs were selected and microarrayed in paraffin blocks. Immunohistochemical analysis was performed with specific antibodies for bcl-2, bcl-6, p16 and p63.
RESULTS
p63 was found to be expressed in all BCCs and SCCs. Bcl-2 was exclusively expressed in BCCs (100%), but there was negative expression in SCCs, whereas bcl-6 was positively expressed in 18.2% of SCCs, and was negative in BCCs. In SCCs, p16 was expressed at high frequency (47.7%) than in BCCs (14.9%). The expression of p16 was correlated with the histologic grades of SCCs.
CONCLUSION
The different patterns of bcl-2, bcl-6, p63 and p16 protein expression between BCCs and SCCs may represent the different histogenesis and morphologic features of two lesions.

Case Report

Nevoid Basal Cell Carcinoma Syndrome: Report of a case.: Hae Ryoun Park, Young Im Han, Mee Young Sol, Sun Kyung Lee; Korean J Pathol. 1995;29(2):263-267.

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Abstract PDF: Nevoid basal cell carcinoma syndrome (NBCC syndrome) is a very rare autosomal dominant dermatopathy characterized by a primary triad with variable secondary anomalies. The chief features include nevoid basal cell carcinomas, one or more skeletal anomalies, and multiple odontogenic keratocysts of the jaw. We report a case of NBCC syndrome in a 43-year old male who had multiple nevoid basal cell carcinomas on the retroauricular area, face, chest wall, and back, which have been present since childhood. Skull x-rays revealed relatively well-circumscribed cystic, radiolucent lesions on bilateral rami of both upper and lower jaws, calcification of the falx cerebri, agenesis of the right coronoid process, and a bifid chin. The cystic lesions were histologically confirmed as keratocysts.

Original Article

Pathological Analysis of the Basal Cell Carcinoma.: Kye Yong Song, Young Hwa Choi, Mi Kyung Kim, Kenn Kook Lee, Eui Kenn Ham; Korean J Pathol. 1994;28(2):160-167.

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Abstract PDF: Though basal cell carcinoma is the most frequent and increasing malignant tumor of the skin in Korea, its pathological analysis has been done only on the small numbers. So, we did a comprehensive pathologic study on the 283 patients with basal cell carcinoma diagnosed in the Department of Pathology, Seoul National(233cases) and Chung-Ang(50cases) University Hospital during 1975-1992. The age distribution was ranged from 15 to 84 years with highest incidence rate in the age group of 5th-8th decades and 83.7% of all patients were over 40 years of age. Sex difference was not noted. The most common site was face occuring in 235 out of 283cases(83.0%) especially in the eyelid(25.5%), nose(17.9%) and cheek(16.6%). The most frequent histopathologic type was solid type(54.0%) followed by mixed(23.9%), adenoid(7.5%), and metatypical(4.7%). Among 51 mixed type, all showed solid components with adenoid(51.0%) followed by morphea(25.5%) and metatypical type(13.7%). And among 14 recurrent cases, solid type is found in 50% of cases. The characteristic clinicopathological findings are solid arrangement of tumor cells with various histological pattern and predominant occurence on the face.

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