Contiguous verrucous proliferations in syringocystadenoma papilliferum: A retrospective analysis with additional evaluation via mutation‐specific BRAFV600E immunohistochemistry

Friedman, Ben; Sahu, Joya; Solomides, Charalambos; Connolly, Deirdre; Lee, Jason B.

doi:10.1111/cup.13093

Cited by 9 publications

(9 citation statements)

References 15 publications

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“…BRAF V600E mutation has been recently found in more than 55% of s‐SCAP cases, expanding the spectrum of BRAF‐related cutaneous neoplasms . It is plausible that the immunohistochemical expression of BRAF VE1 in the accompanying squamous proliferation in our cases and in some published SCAP may correspond to a copy‐number amplification of the BRAF V600E alleles, as is the case with concurrent HRAS mutation and amplification in a minority subset of Spitz nevi, including those arising within nevus spilus . In our cases, not only was immunoreactivity found in the glandular and in the squamous constituents of the two lesions studied, but also after macro‐dissection and subsequent repetition of the molecular study, BRAF V600E mutation was detected in each of the lesional components separately, reinforcing the pathogenic role of this genetic alteration not only in the SCAP but also in the associated warty proliferation.…”

Section: Discussionsupporting

confidence: 54%

Syringocystadenoma papilliferum associated with verrucous carcinoma of the skin in the same lesion: Report of four cases

Alegría-Landa¹,

Jo‐Velasco²,

Santonja³

et al. 2019

J Cutan Pathol

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The association of syringocystadenoma papilliferum (SCAP) with verrucous carcinoma (VC) of the skin in the same lesion is a rare, but well-documented event. Although human papillomaviruses (HPV) have been proposed to have an etiologic role in the development of the verrucous proliferations associated with SCAP, most of the immunohistochemical and molecular studies have failed to show the presence of their genomic material in these lesions. We report a series of four cases of SCAP associated with VC in anogenital lesions. In two of the cases, we demonstrated the presence of the BRAF V600E mutation by polymerase chain reaction and immunohistochemistry, both in the glandular and in the squamous component. No HPV-related histopathologic changes were found, nor could the presence of viral DNA be showed. K E Y W O R D S BRAF V600E mutation, human papillomaviruses, syringocystadenoma papilliferum, verrucous carcinoma of the skin

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Section: Discussionsupporting

confidence: 54%

Syringocystadenoma papilliferum associated with verrucous carcinoma of the skin in the same lesion: Report of four cases

Alegría-Landa¹,

Jo‐Velasco²,

Santonja³

et al. 2019

J Cutan Pathol

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“…Among 18 cases of SCAP with such a morphology described in the literature, the most common location was the cheek (16.7%), scalp (16.7%), and lower extremity (16.7%) followed by the buttock (11.1%), neck (11.1%), vulva (5.5%), sacral area (5.5%), back (5.5%), аreola (5.5%), and eyelid (5.5%). 2,[19][20][21][22][23][24][25] The cause of such contiguous verrucous proliferations in SCAP is unclear. Some authors have suggested a possible role of HPV infection.…”

Section: Discussionmentioning

confidence: 99%

Syringocystadenoma Papilliferum of the Anogenital Area and Buttocks: A Report of 16 Cases, Including Human Papillomavirus Analysis and HRAS and BRAF V600 Mutation Studies

Konstantinova

Kyrpychova

Němcová

et al. 2019

The American Journal of Dermatopathology

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Syringocystadenoma papilliferum (SCAP) is a benign tumor most commonly located on the head and neck area often associated with nevus sebaceus. In its usual location, the human papillomavirus (HPV) DNA and mutations in the RAS/mitogen-activated protein kinase signaling pathway have been detected in SCAP. We studied 16 cases of SCAP in the anogenital areas and buttock where this neoplasm is rare and attempted to find out whether SCAP in these sites have different histopathological and molecular biological features. It seems that there is no significant difference between the morphology of anogenital SCAP and SCAP in other locations. Several tumors in our cohort demonstrated features resembling those seen in warts, but HPV DNA was not found in these lesions. On the contrary, we identified DNA of HPV high-risk types in some tumors without HPV-related morphology. Our study confirms the role of HRAS and BRAF V600 mutations in the pathogenesis of SCAP, including SCAP in the anogenital areas and buttock.

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“…Friedman et al reported a higher incidence (9/12, 75% cases) of contiguous squamous proliferations. 1 Konstantinova et al studied syringocystadenoma papilliferum of anogenital region where 10/16 cases (62.5%) had contiguous squamous proliferations. 2 The clinical appearance of the lesion is unable to predict underlying contiguous squamous proliferation.…”

Section: Discussionmentioning

confidence: 99%

“…Syringocystadenoma papilliferum is a benign adnexal neoplasm derived from pluripotent cells. 1 Rarely, contiguous squamous proliferations appear in syringocystadenoma papilliferum.…”

Section: Introductionmentioning

confidence: 99%

Contiguous squamous proliferations in syringocystadenoma papilliferum: A retrospective study of 14 cases

Aggarwal¹,

Chatterjee²,

Vinay

et al. 2021

IJDVL

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Background: Syringocystadenoma papilliferum is a benign adnexal neoplasm. Contiguous squamous proliferation has been rarely described in syringocystadenoma papilliferum. Aims: This study aimed to evaluate the spectrum and pathogenesis of contiguous squamous proliferation in syringocystadenoma papilliferum. Materials and Methods: All cases of syringocystadenoma papilliferum diagnosed over the past 12 years were screened for contiguous squamous proliferation. Cases with associated nevus sebaceous were excluded from the study. Immunohistochemistry for GATA3, CK7, BRAFV600E and p16 was performed. PCR for human papilloma virus, type 16 and 18, was carried out. Results: Of a total of 30 cases, 14 cases showed associated contiguous squamous proliferation which included four cases of verrucous hyperplasia, six cases with papillomatosis, two cases with mild squamous hyperplasia and one case each of Bowen’s disease and squamous cell carcinoma. In the cases with non-neoplastic contiguous squamous proliferations, the squamous component did not express CK7 or GATA3. However, the squamous component of premalignant and malignant lesions expressed CK7 and GATA3 concordant with the adenomatous component. BRAF was positive in adenomatous component in five cases while the contiguous squamous proliferation component was negative for BRAF in all but one case. p16 was negative in both components of all cases and PCR for human papilloma virus was negative in all cases. Limitations: Due to the rarity of disease, the sample size of our study was relatively small with two cases in the 2nd group, that is, syringocystadenoma papilliferum with malignant contiguous squamous proliferation. Detailed molecular studies such as gene sequencing were not performed. Conclusion: Syringocystadenoma papilliferum with contiguous squamous proliferation is underreported, and most commonly displays verrucous hyperplasia. The premalignant and malignant contiguous squamous proliferations likely arise from syringocystadenoma papilliferum while the hyperplastic contiguous squamous proliferations likely arise from the adjacent epidermis. Relationship with high-risk human papilloma virus is unlikely. However, further molecular analysis of larger number of cases is required to establish the pathogenesis.

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Contiguous verrucous proliferations in syringocystadenoma papilliferum: A retrospective analysis with additional evaluation via mutation‐specific BRAFV600E immunohistochemistry

Abstract: Overall, these findings suggest that contiguous verrucous proliferations in SCAP are common. Both components of the neoplasm may express the BRAFV600E mutation, which is suggestive of a common origin.

Cited by 9 publications

References 15 publications

Syringocystadenoma papilliferum associated with verrucous carcinoma of the skin in the same lesion: Report of four cases

Syringocystadenoma papilliferum associated with verrucous carcinoma of the skin in the same lesion: Report of four cases

Syringocystadenoma Papilliferum of the Anogenital Area and Buttocks: A Report of 16 Cases, Including Human Papillomavirus Analysis and HRAS and BRAF V600 Mutation Studies

Contiguous squamous proliferations in syringocystadenoma papilliferum: A retrospective study of 14 cases

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