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

Citations to this article as recorded by

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

Merkel Cell Carcinoma Metastatic to Pleural Fluid: A Case Report: Ye-Young Rhee, Soo Hee Kim, Eun Kyung Kim, Se Hoon Kim; J Pathol Transl Med. 2018;52(3):206-209. Published online November 23, 2017; DOI: https://doi.org/10.4132/jptm.2017.11.10

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Abstract PDF

Merkel cell carcinoma (MCC) is a rare aggressive neuroendocrine carcinoma of the skin that shows locoregional or distant metastasis. Metastasis of MCC to body cavity effusion is extremely rare; only three cases have been reported so far. Metastatic MCC in effusion cytology shows small blue round cells with fine stippled chromatin like other small blue round cell tumors such as small cell lung carcinoma or lymphoma. The diagnosis of metastatic MCC can grant patients good chances at recently advanced therapeutic options. Here, we present a case of metastatic MCC to pleural effusion with characteristic single file-like pattern.

Citations

Citations to this article as recorded by

Merkel cell carcinoma presenting as a malignant pleural effusion post‐COVID‐19 hospitalization: A case report and literature review
Joel Lanceta, Mesut Toprak, Oana C. Rosca
Diagnostic Cytopathology.2022;[Epub] CrossRef
Cytology coupled with immunocytochemistry identifies Merkel cell carcinoma: A rare intruder in the cerebrospinal fluid
Reetu Kundu, Brijdeep Singh, Pranab Dey
Cytopathology.2022; 33(4): 530. CrossRef
Derrame pleural por carcinoma de células de Merkel
María J. Soler-Sempere, María O. Alvárez-Fernández, Isabel Padilla-Navas, María Cabezas-Macián, Jose F. Sánchez-Hernández, Eduardo García-Pachón
Archivos de Bronconeumología.2021; 57(11): 715. CrossRef
A rare case of pleural localisation of both metastatic Merkel cell carcinoma and chronic lymphocytic leukaemia
Elise Kaspi, Shirley Fritz, Julien Colle, Florent Amatore, Diane Frankel, Patrice Roll
Cytopathology.2021; 32(3): 367. CrossRef
Merkel cell carcinoma with pleural effusion
María J. Soler-Sempere, María O. Alvárez-Fernández, Isabel Padilla-Navas, María Cabezas-Macián, Jose F. Sánchez-Hernández, Eduardo García-Pachón
Archivos de Bronconeumología (English Edition).2021; 57(11): 715. CrossRef

Case Reports

CK20 Negative and CK7 Positive Merkel Cell Carcinoma of the Conjunctiva: Brief Case Report.: Jung Ha Shin, Jae Young Park, Hyun Seung Kim, Ok Ran Shin, Kyo Young Lee; Korean J Pathol. 2010;44(6):675-678.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.6.675

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Abstract PDF: Merkel cell carcinoma (MCC) is an uncommon but potentially aggressive neuroendocrine carcinoma of the skin. It typically develops on sun-exposed areas of the head and neck, particularly the eyelid, periorbital region, and extremities. We report a case of unusually located MCC, presenting as a conjunctival mass, which has only been reported once in the English literature. An 83-year-old male presented with a 0.8 x 0.7 cm sized mass protruding from the lower fornix of the right conjunctiva. The mass was excised. The tumor was located in the submucosa without connection to the overlying mucosa. Light microscopic findings showed a carcinoma with undifferentiated small round cells and the presence of cytokeratin (CK AE1/3, CK7) and neuroendocrine markers. We established a diagnosis of MCC. As reported in the literature, the majority of MCCs are positive for CK20 but negative for CK7. But, this case showed an uncommon cytokeratin immunohistochemical profile of positive for CK7 and negative for CK20, suggesting a new immunophenotypic MCC variant.

Touch Imprint Cytology Contributed to the Frozen Section Diagnosis of Merkel Cell Carcinoma : A Case Report.: Changyoung Yoo, Youn Soo Lee, Joo Wan Park, Suk Kang Chang, Sang In Shim, Gyeong Sin Park, Kyo Young Lee; Korean J Cytopathol. 2006;17(2):143-147.

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Abstract PDF: Merkel cell carcinoma (MCC), a rare primary cutaneous small cell neuroendocrine carcinoma, is a tumor with distinct cytological features. In many cases, immunohistochemical staining (IHC) is required for the differentiation from other small round cell malignancies. Here we describe the cytological findings of Merkel cell carcinoma; these findings contributed to the diagnosis prior to performing IHC. A lower eyelid mass was excised and submitted for frozen section diagnosis. The frozen section diagnosis was consistent with a malignancy, but the more specific diagnosis was limited by the lack of specific histological features. Touch imprint cytology revealed a high cellularity with loosely cohesive small to large sized cells. The tumor cells showed hyperchromatic nuclei with fine chromatin and inconspicuous nucleoli, and thin-rimmed-cytoplasm including the characteristic eosinophilic button-like paranuclear inclusion, previously described as a pathognomonic cytological finding of MCC; this was not found in the H&E frozen section. In conclusion, we suggest that the touch imprint cytology may help in the differential diagnosis of small round cell neoplasms prior to performing IHC especially in frozen section diagnosis.

Original Article

The Prognostic Implications of the Histologic Subtype and the Expression of Phosphorylated ERK 1/2 in Papillary Renal Cell Carcinoma.: Bo Sung Kim, Dong Il Kim, Tae Hoon Kang, Eun Shin, Kyung Chul Moon; Korean J Pathol. 2008;42(4):215-222.

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Abstract PDF: BACKGROUND
The authors of this study wanted to confirm the prognostic implication of the histologic subtype; further, we wanted to explore the expression of phosphorylated extracellular signal-regulated kinase 1/2 (pERK) in papillary renal cell carcinoma (PRCC) and determine its clinicopathologic and prognostic significance.
METHODS
A total of 45 patients who underwent nephrectomy for PRCC were enrolled in this study. The hematoxylin and eosin slides were reviewed and pERK immunohistochemistry was performed.
RESULTS
Type 2 PRCC was significantly correlated with a larger tumor size (p=0.030), a higher nuclear grade (p<0.001), a more advanced tumor stage (p=0.041) and more frequent distant metastasis (p=0.019). The tumors were pERK-low (0 and 1+) in 30 cases (66.7%) and pERK-high (2+) in 15 cases (33.3%). The pERK-high PRCC was significantly associated with a smaller tumor size (p=0.001) and an earlier tumor stage (p=0.004). On the univariate analysis, the histologic subtype, the TNM stage and the pERK status were significantly associated with progression-free survival (PFS). Multivariate analysis showed that the histologic subtype (hazard ratio 22.81, p=0.042) and the TNM stage (hazard ratio 23.48, p=0.009) were independent prognostic factors for PFS.
CONCLUSIONS
Type 2 PRCC, together with the TNM stage, was identified as one of independent poor prognostic factors for PFS. The pERK status was a prognostic factor for PFS on the univariate analysis, but not on the multivariate analysis.

Case Reports

Merkel Cell Carcinoma: A case report associated with squamous cell carcinoma.: Chang Hun Lee, Gyeong Yeob Gong, Kang Suek Suh, Sun Kyung Lee; Korean J Pathol. 1991;25(2):164-171.

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Abstract PDF: Merkel cell carcinoma is a relatively uncommon, cutaneous, neuroendocrine neoplasm that was first recognized by Toker in 1972. Occasionally it is found concurrent with squamous cell carcinoma or basal cell carcinoma and in them cases, the coexistence of them is suggesive of presenting the effect of a common carcinogenic influence on two distinct precursor cells. Now the authors report a case of Merkel cell carcinoma associated with squamous cell carcinoma arising in the overlying epidermis, and a brief review of literatures is introduced. The patient was a 75-year-old female, who had noticed a reddish brown, ulcerated mass on the right buttock. It had progressively enlarged to become lemon-size during last 4 months. The right buttock mass excised measured 10x8x3 cm and was gray white, solid, with an ill-defined marigin. Histologically the tumor was located in the dermis and was lacking in connection with the epidermis in which invasive squamous cell carcinoma developed. The neoplastic cells were arranged in a diffuse, lymphoma-like pattern or trabecular arrangement and their cytologic details were reminiscent of small cell carcinoma of the lung, On electron microscopy the cells displayed many neurosecretory granules averaging about 100nm in diameter, intermediate filaments and desmosomes. Immunohistochemically a ball-like immunostaining for keratin, resembling an inclusion body, was seen, but other markers, including neuron-specific enolase, vimentin, S-100 protein and leukocyte common antigen, were unrewarded.

Hyperkeratosis of Renal Pelvis and Ureter: A case report.: Mi Kyung Lee, Hyeon Joo Jeong, In Joon Choi; Korean J Pathol. 1987;21(4):298-302.

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Abstract PDF: Hyperkeratosis of the renal pelvis and ureter is a rare condition and is explained by the metaplastic change from transitional to cornified squamous epithelium. This lesion is frequently associated with, and perhaps caused by chronic urinary infection, but potentially premalignant, accompaning with carcinoma in about 10 to 20 per cent of the cases at the time of diagnosis. A case of hyperkeratosis of renal pelvis & ureter which was clinically suspected of carcinoma in a 49-year old woman with a long history of chronic pyelonephritis is presented with review of literature.

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