Clear cell myoepithelial carcinoma of salivary glands showing EWSR1 rearrangement: molecular analysis of 94 salivary gland carcinomas with prominent clear cell component.

This study examines the presence of the EWSR1 rearrangement in a variety of clear cell salivary gland carcinomas with myoepithelial differentiation. A total of 94 salivary gland carcinomas with a prominent clear cell component included 51 cases of clear cell myoepithelial carcinomas de novo (CCMC), 21 cases of CCMCs ex pleomorphic adenoma (CCMCexPA), 11 cases of epithelial-myoepithelial carcinoma (EMC), 6 cases of EMC with solid clear cell overgrowth, and 5 cases of hyalinizing clear cell carcinoma of minor salivary glands. In addition, 10 cases of myoepithelial carcinomas devoid of clear cell change and 12 cases of benign myoepithelioma were included as well.

Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.

Brooke-Spiegler syndrome (BSS) is a rare, inherited, autosomal dominant disorder characterized by development of multiple adnexal cutaneous neoplasms including spiradenoma, cylindroma, spiradenocylindroma, and trichoepithelioma. The syndrome of multiple familial trichoepitheliomas (MFT) is considered a phenotypic variant of BSS in which patients present with trichoepitheliomas only. We studied germline and somatic mutations of the CYLD gene by direct sequencing in patients with BSS (n = 49) and MFT (n = 18) using peripheral blood and 90 samples of frozen or formalin-fixed paraffin-embedded tumor tissue selected from 379 available histology specimens.

Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients.

Multiple familial trichoepitheliomas (MFT) constitute an autosomally inherited syndrome possibly related to Brooke-Spiegler syndrome (BSS). Although some early studies suggested a role for the PTCH gene on chromosome 9q22.3 in the etiopathogenesis of MFT, recent studies of occasional patients with the MFT clinical phenotype identified mutations in the CYLD gene on chromosome 16q12-q13, a gene responsible for BSS.

Brooke-Spiegler syndrome: report of 10 patients from 8 families with novel germline mutations: evidence of diverse somatic mutations in the same patient regardless of tumor type.

Brooke-Spiegler syndrome (BSS) is an inherited autosomal dominant disease characterized by the development of multiple adnexal cutaneous neoplasms including spiradenoma, cylindroma, spiradenocylindroma, and trichoepithelioma (cribriform trichoblastoma). BSS patients have various mutations in the CYLD gene, a tumor suppressor gene located on chromosome 16q. Our search of the literature revealed 51 germline CYLD mutations reported to date.

Expression of p53 and TP53 mutational analysis in malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome.

We performed immunohistochemical assessment of p53 expression and TP53 mutational analysis of 15 malignant neoplasms arising from preexisting benign cylindroma, spiradenoma, and spiradenocylindroma, sporadic or associated with Brooke-Spiegler syndrome. At least weak and focal p53 positivity was present in 13 of the 15 lesions. Successful PCR and sequencing were possible in 12 of the 15 cases.

Fibroadenoma and phyllodes tumors of anogenital mammary-like glands: a series of 13 neoplasms in 12 cases, including mammary-type juvenile fibroadenoma, fibroadenoma with lactation changes, and neurofibromatosis-associated pseudoangiomatous stromal hyperplasia with multinucleated giant cells.

The authors present a series of 13 fibroepithelial neoplasms involving anogenital mammary-like glands, all occurring in 12 female patients, whose age at diagnosis ranged from 30 to 51 years (mean, 38 y; median, 42 y). All women presented with a solitary asymptomatic nodule in the vulva (n=8), perineum (n=2), or near the anus (n=2) ranging in size from 1.5 to 4.

Adenoid cystic carcinoma-like pattern in spiradenoma and spiradenocylindroma: a rare feature in sporadic neoplasms and those associated with Brooke-Spiegler syndrome.

Spiradenoma is a benign, morphologically well-defined cutaneous adnexal neoplasm that is closely related to cylindroma. We present the rare occurrence of adenoid cystic carcinoma (ACC)-like areas in 7 spiradenomas and 1 spiradenocylindroma, not described in the English literature to date. The ACC-like areas were a minor but significant component in all lesions and were usually multifocal and blended with the conventionally appearing parts of the neoplasms.

Pseudoangiomatous stromal hyperplasia in a complex neoplastic lesion involving anogenital mammary-like glands.

Anogenital mammary-like glands (AMLG) may give rise to various pathologic lesions identical to those known in mammary pathology. Pseudoangiomatous stromal hyperplasia (PASH), a relatively frequent hormonal change associated with different benign and malignant processes in the breast, was only once mentioned in the literature concerning the pathology of AMLG. We present here a new case of PASH in a lesion of AMLG.

Morphologic diversity of malignant neoplasms arising in preexisting spiradenoma, cylindroma, and spiradenocylindroma based on the study of 24 cases, sporadic or occurring in the setting of Brooke-Spiegler syndrome.

The authors present a series of 24 malignant neoplasms arising in preexisting benign spiradenoma (20), cylindroma (2), and spiradenocylindroma (2). Nineteen patients (12 females, 7 males; age range, 41 to 92 y) had a solitary neoplasm (size range, 2.2 to 17.

Hyperplasia of hair follicles and other adnexal structures in cutaneous lymphoproliferative disorders: a study of 53 cases, including so-called pseudolymphomatous folliculitis and overt lymphomas.

We studied 53 cutaneous lymphoproliferative disorders, all of which manifested hair follicle hyperplasia. There were 42 cases conforming to the description of pseudolymphomatous folliculitis (PLF) and 11 cases of authentic lymphomas including mycosis fungoides, CD30+ anaplastic large cell lymphoma, diffuse large B-cell lymphoma, B-cell small cell lymphoma/leukemia, and peripheral T-cell lymphoma, not otherwise specified. All patients with PLF clinically presented with a solitary nodule preferentially involving the face.

Hidradenoma papilliferum with a ductal carcinoma in situ component: case report and review of the literature.

Hidradenoma papilliferum (HP) is a benign cutaneous adnexal neoplasm occurring mainly in the anogenital region of adult women and has features analogous to intraductal papilloma of the breast. Malignant change in HP is extremely rare. Only a single case of ductal carcinoma in situ arising in HP has been previously reported.

Merkel cell carcinoma with a follicular lymphocytic infiltrate: report of 2 cases.

Merkel cell carcinoma (MCC) with a follicular lymphocytic infiltrate of the dermis was first reported by Bastian et al in 1996. Thereafter there were no further reports of such a morphological variant of MCC. We present here 2 cases of MCC characterized by foci of a dense lymphocytic infiltrate with the formation of lymphoid follicles.

Vascular changes in merkel cell carcinoma based on a histopathological study of 92 cases.

Although prominent vascular proliferation is a known feature of various neuroendocrine tumors, it has not been systematically studied in Merkel cell carcinoma (MCC) of the skin. The purpose of this study was to fully characterize the light microscopic, immunohistochemical, and ultrastructural features of vascular changes associated with MCC and to determine their frequency and differential diagnostic implications. Additionally, the presence of human herpesvirus 8 DNA in the lesional tissue was investigated.

Syringocystadenoma papilliferum with sebaceous differentiation in an intradermal tubular apocrine component. Report of a case.

Syringocystadenoma papilliferum is a benign tumor most commonly located on the scalp or face, and it often arises within a nevus sebaceus of Jadassohn. We describe a 61-year-old man with syringocystadenoma papilliferum developing within a nevus sebaceus with sebaceous differentiation in an intradermal tubular apocrine component of the syringocystadenoma papilliferum. Although some adnexal neoplasms that develop in association with a nevus sebaceus may exhibit conjoint sebaceous, follicular, or apocrine differentiation, reflecting close embryological relations of the folliculosebaceous-apocrine unit, the feature we report on has not previously been described to the best of our knowledge.

Melanoma associated with a dysplastic nevus: report of two cases with unusual sebocyte-like melanocytes in the nevus part of the lesion.

We present two cases of melanoma arising in a dysplastic nevus that contained intradermal sebocyte-like melanocytes characterized by a scalloped dark-staining nucleus surrounded by the pale multivacuolated cytoplasm imitating sebaceous differentiation. Both patients were women, aged 49 and 55 years. Location included the back and temporal area.

Human papillomavirus in lesions of anogenital mammary-like glands.

Long considered as ectopic breast tissue, anogenital mammary-like glands (MLGs) have recently been suggested to represent distinctive structures located in the anogenital area. We studied 16 neoplasms of anogenital MLG for human papillomavirus (HPV) DNA using INNO-line probe assay (LiPA) HPV Genotyping kit, GP5+/6+, CP(SGB), and FAP 6085-6319 primer sets. The lesions included 3 fibroadenomas, 2 adenosis tumors, 1 invasive ductal carcinoma, 1 tubulolobular carcinoma, 2 hidradenoma papilliferum with prominent cystic change rendering a cystadenoma appearance and oxyphilic metaplasia, and 7 cases of extramammary Paget disease.

Tubular adenoma and syringocystadenoma papilliferum: a reappraisal of their relationship. An interobserver study of a series, by a panel of dermatopathologists.

Tubular adenoma (TA) and syringocystadenoma papilliferum (SCAP) may show histopathological overlap, with some lesions having features of both neoplasms (SCAP + TA). TA has been recently suggested to represent a carcinoma. Four observers blindly assessed 67 cases of TA, SCAP, and their lookalikes (poroma, apocrine adenoma, apocrine carcinoma; all lesions focally featuring a pseudopapillary pattern), and classified the lesions into one of four categories: (1) TA, (2) SCAP, (3) SCAP + TA, and (4) others.