Syringocystadenocarcinoma papilliferum: a systematic review of clinical characteristics, reappraisal of associations, diagnostic pitfalls and management challenges.

Syringocystadenocarcinoma papilliferum (SCACP) is a rare and aggressive malignant adnexal tumor originating from apocrine or pluripotent appendageal glands, often associated with a preceding syringocystadenoma papilliferum (SCAP) or nevus sebaceus (NS). This systematic review rigorously examines SCACP through an analysis of 78 cases documented between 1980 and 2024. The study aims to provide a comprehensive review of the clinical manifestations, diagnosis, treatment modalities, and outcomes associated with SCACP, while also reappraising its associations, particularly with NS. SCACP predominantly affects older adults, with an average age of 66.3 years and a slight male predominance, commonly presenting as ulcerated nodules or plaques on the scalp. This review highlights the aggressive nature of SCACP, evidenced by significant rates of metastasis and recurrence. Treatment is primarily surgical, with Mohs micrographic surgery offering potential benefits in terms of margin control and cosmetic outcomes. The association of SCACP with NS is critically evaluated, suggesting a complex etiopathogenesis and underscoring the importance of recognizing this association for timely diagnosis and management. Our review also briefly discusses potential pitfalls faced by clinicians in the diagnosis of SCACP. Our findings emphasize the need for standardized treatment protocols and further research into targeted therapies to improve patient outcomes in SCACP.

Intradermal Syringocystadenoma Papilliferum on the Popliteal Fossa: A Rare Dermal Variant in an Atypical Location.

Syringocystadenoma papilliferum (SCAP) is a benign adnexal tumor commonly found on the scalp and face, and often associated with nevus sebaceous, with about half of cases appearing in early childhood. SCAP exhibits cystic invaginations with papillary structures and a double-layered glandular epithelium linked to the epidermal surface and stromal plasma cells. We are reporting a rare instance of intradermal SCAP in a 55-year-old male. He sought evaluation for a long-standing asymptomatic dark-pink papule in his left popliteal fossa, measuring 0.7 x 0.5 x 0.4 cm. A shave biopsy revealed papillary dermal fibrosis, glandular epithelium with apocrine secretion, and papillary projections without an epidermal connection. Infundibulofollicular keratinization was observed, along with stromal plasma cells. The patient chose local excision as the treatment option. This case highlights the rarity of intradermal SCAP, especially in the left popliteal fossa, with only one other reported case in the literature.

Immunohistochemical and Molecular Characteristics of Anogenital Papillary Hidradenomas.

BACKGROUND: Papillary hidradenomas (PHs) of the anogenital region are uncommon tumors whose immunohistochemical and molecular profile have been infrequently studied. MATERIAL AND METHODS: We studied 15 PHs by next-generation sequencing and 10 immunohistochemical markers (PAX8, GATA3, HER2, MSH6, PMS2, estrogen, progesterone and androgen receptors, CK14, and NKX3.1). RESULTS: All cases expressed GATA3, whereas none expressed PAX8, and rare tumor cells were NKX3.1-positive. Almost all cases expressed estrogen receptors (ER), progesteron receptors (PR), and androgen receptors (AR). CK14 was expressed by myoepithelial cells, whereas only rarely by the epithelial tumor cells. HER2 showed no significant expression. Immunohistochemical expression for the mismatch repair proteins showed persistence in all cases. Molecular analysis often showed PIK3CA mutations, as well as KRAS , SMO , and MAP2K1 mutations. CONCLUSION: Anogenital PHs frequently harbor PIK3CA mutations and show a PAX8-, GATA3/ER/PR/AR + immunohistochemical profile.

Ultrasonographic and pathological findings of syringocystadenoma papilliferum in the skin.

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Clinicopathologic Study of Sialadenoma Papilliferum of the Minor Salivary Glands: A Series of 8 New Cases With BRAF V600E Mutation-specific Immunohistochemical Analysis.

Introduction. Sialadenoma papilliferum (SP) is a rare benign neoplasm that usually arises in the minor salivary glands. Recently, it was demonstrated that SP shares similar molecular genetic alterations (BRAF V600E or HRAS mutations) with its morphologic analog, syringocystadenoma papilliferum. Methods. We sought to perform clinicopathologic and immunophenotypic (BRAF V600E and SOX10) analyses on 8 new cases of SP. Results. The cases were from 4 males and 4 females, with ages ranging from 28 to 81 years (average: 64 years). The common locations were the hard palate (n = 3) and buccal mucosa (n = 3). Histopathologically, 7 cases were classic and 1 case was oncocytic. BRAF V600E immunohistochemistry (IHC) was positive in all classic SP, involving both the exophytic and endophytic components, but negative in the oncocytic SP. SOX10 was positive in the endophytic ductal cells of the evaluated classic SP but was negative in the oncocytic SP. Conclusions. We report 8 new cases of this rare salivary gland neoplasm, using BRAF V600E and SOX10 IHC to further support the following points: (1) the functional role of BRAF V600E mutation, RAS/mitogen-activated protein kinase signaling pathway in the pathogenesis of classic SP of salivary glands by IHC; (2) the analogous relationship between SP, syringocystadenoma papilliferum, and papillary seromucinous adenocarcinoma with sinonasal papilloma-like surface component (PSASP-like surface); (3) endophytic ductal component in classic SP arises from the intercalated ducts and not the excretory ducts; and (4) oncocytic SP is distinct from classic SP.

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

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.

Complex sweat gland hamartoma: A case report.

Syringocystadenoma papilliferum (SCAP), tubular apocrine adenoma (TAA), and eccrine nevus are rare benign sweat gland tumors with varied clinical presentations but generally distinctive histomorphologic profiles. TAA and SCAP have been associated with other cutaneous hamartomas, most commonly with nevus sebaceus. Additionally, TAA and SCAP have uncommonly co-occurred in the same lesion. In contrast to nevus sebaceus, eccrine nevus is considerably less common and is rarely associated with other benign adnexal lesions. Here we present an unusual case of a complex sweat gland hamartoma containing features of syringocystadenoma papilliferum, tubular apocrine adenoma, and eccrine nevus in a 7-year-old female.

Hidradenoma papilliferum at vaginal vault - A rare cause of vault growth.

ABSTRACT: Hidradenoma papilliferum (HP) is a rare benign tumor of the apocrine gland and is commonly seen at the anogenital region. A 32-year-old post-hysterectomy woman presented with excessive vaginal discharge and itching. Small polypoidal mass was noted at vault. Excision of the lesion was done, and histopathology confirmed HP. The patient is symptom free following excision. This case report highlights the presence of pluripotent cells in the vagina and their differentiation into any cell lineage.

Syringocystadenoma Papilliferum Revealed 12 Years After Surgical Treatment of Chronic Ear with Cholesteatoma: Presentation of an Unusual Case and Literature Review.

Syringocystadenoma papilliferum is a rare hamartomatous adnexal tumor and appears mainly in the head and neck region. Rarely, such tumors may appear in the external auditory canal. There are only 14 described cases of the syringocystadenoma papilliferum in the external auditory canal in the Medline database. In this study, we present the first reported case of syringocystadenoma papilliferum arising in the modified radical mastoidectomy and occurring 12 years after ear surgery. A 26-year-old man was admitted to our clinic with complaints of discharge from the left ear, ear fullness, and hearing loss. These symptoms had been worsening for 3 years. Twelve years previously, he had undergone modified radical mastoidectomy by Bondy due to a cholesteatoma. Otoscopic examinations revealed otorrhea and a reddish mass measuring 1 × 0.8 cm arising from the tegmen tympanum and fundus of the mastoid cavity. A surgical biopsy was conducted with local anesthesia in the medical outpatient clinic, and it revealed syringocystadenoma papilliferum. A tumor resection was performed with a retroauricular approach. The bone attachment of the tumor was drilled out, and the ear cavity was covered with a mashed split skin graft. The ear cavity healed, and no tumor recurrence was observed during a 9-month follow-up period. Our case and literature analysis of previously described cases led to the conclusion that cases of syringocystadenoma papilliferum of the external auditory canal may be associated with different medical histories, age distributions, and origins than other syringocystadenoma papilliferums of the head and neck region. Tubular adenoma may occur together with syringocystadenoma papilliferum in 20% of cases. Malignant transformation of syringocystadenoma papilliferum may occur but is extremely rare. Computed tomography imaging may predict malignancy of the tumor. Tumors specific to the external auditory canal may occur in the modified radical mastoidectomy after middle ear surgery.

[Cystic tubulopapillary adenoma with apocrine differentiation and BRAF V600E mutation. A case report and review of the literature]. / Adenoma tubulopapilar quístico con diferenciación apocrina: descripción de un caso con mutación de BRAF V600E y revisión de la literatura.

Syringocystadenoma papilliferum (SCAP), tubular adenoma (TA) and hydrocystoma (HC) are benign adnexal tumors. Recently it has been suggested that these lesions belong to the same morphological spectrum: Tubulopapillary cystic adenoma with apocrine differentiation (TPCAa). BRAF and K-Ras (KRAS) mutations have been described in SCAP and TA, but not in HC. Moreover, verrucous epithelial proliferations have been observed in TPCAa. We present a case of TPCAa with BRAF V600E mutation and BRAF VE1 immunohistochemical expression in the SCAP, AT, HC and verrucous hyperplasia components.

Syringocystadenoma Papilliferum in the External Ear Canal.

Out of all benign tumors of the ceruminous glands, syringocystadenoma papilliferum is the rarest and represents only 2% of cases. It is an extremely rare benign tumor that originates from modified apocrine sweat glands. The aim of this paper was to present, according to our findings, the 18th case of syringocystadenoma papilliferum in the external auditory canal, with a detailed review of its clinical, radiological and histomorphological characteristics. A 59-year-old man reported to our clinic due to a 5×5 mm papillomatous growth at the entrance to the right external auditory canal. Histopathology indicated, after an excisional biopsy, that it was a syringocystadenoma papilliferum. The resection lines were free of tumor tissue, and the patient has no signs of tumor recurrence. Although rare, it should be considered as a differential diagnosis of lesions in this region. Complete excision is mandatory in order to avoid recurrence and potential malignant alteration.

Apocrine tubular adenoma on the palm: A case report.

RATIONALE: Tubular apocrine adenoma (TAA) is a very rare benign neoplasm of the apocrine gland. The typical anatomical locations are mostly hair-bearing areas, where normal apocrine glands are abundant. PATIENT CONCERNS: We report the case of a 40-year-old patient with a tubular apocrine adenoma on a non-hair-bearing area. DIAGNOSES: Ultrasonography showed a 0.4-cm-sized hypoechoic nodule in the subcutaneous plane of the left palm at the fourth carpometacarpal joint level. INTERVENTIONS: Surgical resection was performed and histopathological examination revealed lobules of well-differentiated dilated tubular structures at the dermis level. OUTCOMES: At 1 year of postoperative follow-up, the patient was completely recovered without signs of recurrence. LESSONS: Diagnosis of TAA can be misleading due to its unusual location and inconspicuous appearance. Immunohistochemistry for epithelial membrane antigen and gross cystic disease fluid protein-15 is crucial for the proper diagnosis. Complete excision is recommended to prevent recurrence.

Nevus Sebaceous of the Scalp With Stepwise Progression Into Invasive Syringocystadenocarcinoma Papilliferum.

Syringocystadenocarcinoma papilliferum (SCACP), the malignant counterpart of syringocystadenoma papilliferum (SCAP), is an extremely rare malignant adnexal neoplasm. It is described by the World Health Organization as a malignant transformation of SCAP occurring in middle-aged to elderly individuals with a predilection for the head and neck. SCACP seems to arise from a long-standing syringocystadenoma probably on a background of nevus sebaceous (NS) through a multistep progression. A 75-year-old man was referred to our department with a long-standing NS with a recent newly developing nodule on his scalp. The tumor was excised. On histology, the overall architecture of the tumor still resembled an unusual SCAP within NS but simultaneously showed transition to syringocystadenocarcinoma papilliferum in situ and invasive SCACP as recognizable by the presence of areas of nuclear atypia, increased proliferative activity, and infiltrative growth. In summary, we report an extremely rare case of an invasive SCACP of the scalp that demonstrates histological evidence for all transitive steps in the hypothetical multistep progression from NS to invasive SCACP in one single lesion. The implications of these findings are discussed in the light of the relevant literature.

A rare case of syringocystadenocarcinoma papilliferum of the breast: An institutional retrospective case review and brief literature review.

Syringocystadenocarcinoma papilliferum (SCACP) is a rare cutaneous adnexal tumor thought to originate from its benign counterpart, syringocystadenoma papilliferum. These tumors are predominantly located on the head and neck with their location on the breast extraordinarily reported; mammary localization poses a great diagnostic dilemma to the practicing pathologist. Herein, we report an unusual case of an 85-year-old woman with an outside diagnosis on a core needle biopsy of metaplastic mammary carcinoma. Upon consultative review of the partial mastectomy specimen, SCACP was identified. Herein, we review SCACP and the diagnostic challenge it poses, especially when localized to the breast. Furthermore, we perform a retrospective review of institutional pathology reports and identified four additional cases of SCACP diagnosed at our institution within the last decade. Finally, we briefly review the literature of SCACP. The entity of SCACP should be well known to pathologists to avoid misdiagnosis.