J Pathol Transl Med.  2024 Mar;58(2):72-80. 10.4132/jptm.2024.01.23.

TRPS1 expression in non-melanocytic cutaneous neoplasms: an immunohistochemical analysis of 200 cases

• Liu YA
• Aung PP
• Wang Y
• Ning J
• Nagarajan P
• Curry JL
• Torres-Cabala CA
• Ivan D
• Prieto VG
• Ding Q
• Cho WC

• KMID: 2553474
• DOI: http://doi.org/10.4132/jptm.2024.01.23

Abstract

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.

Keyword

TRPS1; Immunohistochemistry; Basal cell carcinoma; Squamous cell carcinoma; Merkel cell carcinoma; Adnexal neoplasm; Endocrine mucin-producing sweat gland carcinoma

Figure

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  Fig. 1. Trichorhinophalangeal syndrome type 1 (TRPS1) expression in normal skin. TRPS1 expression was inherently present in the outer root sheath (A, top right inset) and matrical cells (A, bottom left inset) of the hair follicle and mesenchymal cells of dermal papillae (A, bottom left inset). TRPS1 expression was also seen in sebocytes (B) typically in weak intensity. Note that the germinative cells of sebaceous glands were devoid of TRPS1 expression (C, arrow). The acrosyringia (D) and eccrine glands (E) naturally expressed TRPS1 in strong intensity, while the apocrine glands naturally lacked TRPS1 immunoreactivity (E, arrow). Note that the epidermal keratinocytes in the stratum spinosum layer of normal skin may express TRPS1, particularly in sun-damaged skin, whereas the basal keratinocytes naturally lack TRPS1 expression (D, inset, arrow, TRPS1) (A–E, TRPS1 immunostaining).

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  Fig. 2. Trichorhinophalangeal syndrome type 1 (TRPS1) expression in non-adnexal cutaneous carcinomas. (A, B) Most squamous cell carcinomas showed diffuse and strong TRPS1 expression. (C, D) In contrast, basal cell carcinomas typically lacked TRPS1 expression within the tumor cells. Note that the eccrine glands (C, D, red arrows) strongly express TRPS1, serving as an internal control. (E, F) In the presence of squamous differentiation, basal cell carcinomas can focally and weakly express TRPS1. (G, H) Merkel cell carcinomas were consistently devoid of TRPS1 expression (B, D, F, H, TRPS1 immunostaining).

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  Fig. 3. Representative examples of trichorhinophalangeal syndrome type 1 (TRPS1) expression in malignant cutaneous adnexal neoplasms: malignant proliferating pilar tumor (A, B), apocrine carcinoma (C, D), trichilemmal carcinoma (E, F), digital papillary adenocarcinoma (G, H), trichoblastic carcinoma (I, J), endocrine mucin-producing sweat gland carcinoma (K, L), sebaceous carcinoma (M, N), and squamoid eccrine ductal carcinoma (O, P). Of all malignant adnexal neoplasms, endocrine mucin-producing sweat gland carcinomas showed the strongest (3+) intensity of TRPS1 expression, which was consistently diffuse (K, L) (B, D, F, H, J, L, N, P, TRPS1 immunostaining).

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  Fig. 4. Representative examples of trichorhinophalangeal syndrome type 1 (TRPS1) expression in benign cutaneous adnexal neoplasms: pilar sheath acanthoma (A, B), trichofolliculoma (C, D), proliferating pilar tumor (E, F), pilomatricoma (G, H), trichilemmoma (I, J), trichoepithelioma (K, L), sebaceous adenoma (M, N), sebaceoma (O, P), syringocystadenoma papilliferum (Q, R), hidradenoma (S, T), poroma (U, V), syringoma (W, X), cylindroma (Y, Z), and spiradenoma (AA, AB) (B, D, F, H, J, L, N, P, R, T, V, X, Z, AB, TRPS1 immunostaining).

Reference

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