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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Abstract PDF Supplementary Material: 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.

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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2 Crossref

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

Citations to this article as recorded by

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

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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