Merkel Cell Polyomavirus‒Negative Merkel Cell Carcinoma Originating from In Situ Squamous Cell Carcinoma: A Keratinocytic Tumor with Neuroendocrine Differentiation

Kervarrec, Thibault; Appenzeller, Silke; Samimi, Mahtab; Sarma, Bhavishya; Sarosi, Eva-Maria; Berthon, Patricia; Corre, Y. Le; Hainaut-Wierzbicka, Ewa; Blom, Astrid; Benethon, Nathalie; Bens, Guido; Nardin, C; Aubin, F.; Dinulescu, M.; Jullié, Marie‐Laure; Pekar-Lukacs, Agnes; Calonje, Eduardo; Thanguturi, Soumanth; Tallet, Anne; Wobser, Marion; Touzé, Antoine; Guyétant, Serge; Houben, Roland; Schrama, David

doi:10.1016/j.jid.2021.07.175

Cited by 26 publications

(43 citation statements)

References 54 publications

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“…This skin tumor may be transdifferentiated from squamous cell carcinoma as Merkel cell polyomavirus-negative Merkel cell carcinoma originating from in situ squamous cell carcinoma. 23 In addition, LCNEC in case 2 accompanied multiple lesions of actinic keratosis on the surrounding skin and showed diffuse immunoexpression of p40 by itself; thus, LCNEC of the skin in case 2 may also have originated from cutaneous squamous cell carcinoma. Moreover, there may be cutaneous/conjunctival cases of LCNEC originating from other carcinomas, including Merkel cell polyomavirus-negative Merkel cell carcinoma and sebaceous carcinoma, similar to LCNEC of other organs, which can be combined with various tumor types.…”

Section: Discussionmentioning

confidence: 90%

Large Cell Neuroendocrine Carcinoma of the Skin/Conjunctiva: A Series of 6 Cases including 1 Combined Case With Squamous Cell Carcinoma

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Yoshikawa

Kiyohara

et al. 2022

The American Journal of Dermatopathology

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This study sought to reveal the clinicopathologic characteristics of large cell neuroendocrine carcinoma (LCNEC) of the skin/conjunctiva. The retrieved patients included 3 men and 3 women with a median age of 85 (63-95) years. All lesions occurred on the face, including the ears, with a median tumor size of 11.5 (7-65) mm. Lymph node metastasis was observed in 5 (83%) of 6 cases, and distant metastasis was noted in 2 (33%). One patient (17%) who had a 13-mm-sized tumor died of the tumor 13 months after excision. All tumors were mainly located in the dermis, and one of them also exhibited intraepithelial spreading. The cytology resembled that of an LCNEC in other organs. No adnexal differentiation was observed. Five cases were of the pure type, but one had a component of squamous cell carcinoma. Immunoreactivities for CAM5.2, CK7, CK19, BerEP4, epithelial membrane antigen, neuron-specific enolase, synaptophysin, c-KIT, GATA3, and bcl-2 were frequently present, but CK20, neurofilament, Merkel cell polyomavirus large T antigen, mammaglobin, estrogen receptor, HER2, and TTF1 were completely negative in all cases. Mutant-pattern immunostaining of p53, PTEN, and Rb was frequently observed. The Ki67 rate exceeded 70% in all cases. LCNEC of the skin/conjunctiva is a morphologically-defined group of primary cutaneous/conjunctival neuroendocrine neoplasm, although it may be heterogeneous similar to other-site LCNEC or Merkel cell carcinoma. This study highlighted the predominant location for the face, high metastatic and lethal potential, possible combination with other tumor components, and frequent mutant-type immunoexpressions of p53, PTEN, and Rb in this tumor group.

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Section: Discussionmentioning

confidence: 90%

Large Cell Neuroendocrine Carcinoma of the Skin/Conjunctiva: A Series of 6 Cases including 1 Combined Case With Squamous Cell Carcinoma

Goto

Yoshikawa

Kiyohara

et al. 2022

The American Journal of Dermatopathology

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“…15 Importantly, in this study the diffuse aberrancy in p53 and Rb expression correlated with tumour mutations in TP53 and RB1, respectively, whereas focal Rb loss was associated with wild-type RB1. 15 Also importantly, data from other studies have reported that inactivating RB1 mutations were restricted to a minority (approximately 10%) of cutaneous SCC 13,38,39 which were likely to show a distinctive morphology and expression profiles 13,40,41 compared to wild-type RB1 cases. In our study, complete loss of Rb expression was never observed in YAP1rearranged porocarcinoma, but was frequent in Bowen disease and highly prevalent in SCC with bowenoid characteristics, which showed frequent RB1 mutations and/or deletion.…”

Section: Discussionmentioning

confidence: 99%

“…34 Furthermore, RB1-deficient SCC was recently identified as potential a precursor of MCPyV-negative tumours. 38,40,41 In fact, up to 50% of MCPyVnegative cases are associated with an SCC component, and genetic analysis recently demonstrated the clonal link between the two tumours. 38,40,41 Furthermore, inactivation of RB1 through mutation or deletion is constantly observed in both components of these tumours, suggesting that inactivation of RB1 is a necessary preliminary step for the development of MCPyV-negative tumours.…”

Section: Discussionmentioning

confidence: 99%

Distinct regulations driving YAP1 expression loss in poroma, porocarcinoma and RB1‐deficient skin carcinoma

Kervarrec

Frouin

Collin³

et al. 2023

Histopathology

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Distinct regulations driving YAP1 expression loss in poroma, porocarcinoma and RB1-deficient skin carcinoma Aims: Recently, YAP1 fusion genes have been demonstrated in eccrine poroma and porocarcinoma, and the diagnostic use of YAP1 immunohistochemistry has been highlighted in this setting. In other organs, loss of YAP1 expression can reflect YAP1 rearrangement or transcriptional repression, notably through RB1 inactivation. In this context, our objective was to re-evaluate the performance of YAP1 immunohistochemistry for the diagnosis of poroma and porocarcinoma. Methods and results: The expression of the C-terminal part of the YAP1 protein was evaluated by

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“…4 Recently, applying massive parallel sequencing (MPS) to paired MCC and in situ SCC cases, we and others have shown that in combined tumours, MCC derived from SCC, thus demonstrating the keratinocytic origin of these cases. 5,6 Beyond SCC, several differentiation lineages have been observed in association with MCC. 4 Among these, combined MCC with a sarcomatoid component was rarely reported (13 cases).…”

Section: Genetic Evidence Of a Sarcomatoid Transformation In Merkel C...mentioning

confidence: 99%

Genetic evidence of a sarcomatoid transformation in Merkel cell carcinoma

Barbieux

Tallet

Collin

et al. 2022

Acad Dermatol Venereol

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Merkel Cell Polyomavirus‒Negative Merkel Cell Carcinoma Originating from In Situ Squamous Cell Carcinoma: A Keratinocytic Tumor with Neuroendocrine Differentiation

Cited by 26 publications

References 54 publications

Large Cell Neuroendocrine Carcinoma of the Skin/Conjunctiva: A Series of 6 Cases including 1 Combined Case With Squamous Cell Carcinoma

Large Cell Neuroendocrine Carcinoma of the Skin/Conjunctiva: A Series of 6 Cases including 1 Combined Case With Squamous Cell Carcinoma

Distinct regulations driving YAP1 expression loss in poroma, porocarcinoma and RB1‐deficient skin carcinoma

Genetic evidence of a sarcomatoid transformation in Merkel cell carcinoma

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