RESUMO
ABSTRACT: Squamoid eccrine ductal carcinoma (SEDC) is a poorly documented but likely underrecognized sweat gland malignancy with significant risk for local recurrence and potential for metastasis and rare disease-related mortality. Histopathologically, the tumor demonstrates a biphasic differentiation pattern: superficially, the tumor has squamous differentiation [indistinguishable from well-differentiated cutaneous squamous cell carcinoma (cSCC)], while the deeper aspect has a more infiltrative pattern with prominent ductal differentiation. Diagnosis of SEDC relies upon histopathologic examination alone. Its pathogenesis is poorly understood, and its genomic features have yet to be described. In this article, we characterize the genomic features in a case of SEDC through whole-exome sequencing, then compare its features with cSCC and other eccrine ductal carcinomas. Whole-exome sequencing revealed 30 mutations/Mb with 21 pathogenic or likely pathogenic mutations in total, identified across 14 different genes. The genomic abnormalities identified in this case of SEDC overlap considerably with those found in cSCC but not those of other sweat gland malignancies. The clinical and histopathologic features of SEDC previously reported and the genetic features determined from this case suggest that this tumor may arise initially as a well-differentiated cSCC that subsequently undergoes divergent differentiation focally to resemble a sweat gland malignancy. Genetic analyses of additional cases are warranted to clarify this consideration.
Assuntos
Adenocarcinoma de Células Claras , Neoplasias Ósseas , Neoplasias da Mama , Carcinoma Ductal , Carcinoma de Apêndice Cutâneo , Carcinoma de Células Escamosas , Neoplasias de Tecido Conjuntivo , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Humanos , Feminino , Carcinoma de Células Escamosas/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Neoplasias Cutâneas/patologia , Sequenciamento do Exoma , Glândulas Écrinas/patologia , Neoplasias Ósseas/patologia , Neoplasias da Mama/patologia , Neoplasias de Tecido Conjuntivo/patologia , Carcinoma de Apêndice Cutâneo/patologia , Adenocarcinoma de Células Claras/patologia , Carcinoma Ductal/patologiaRESUMO
ABSTRACT: Hidradenocarcinoma (HAC) is a rare adnexal tumor associated with the potential for locoregional recurrence and systemic metastasis. The clinical appearance of HAC is nonspecific, frequently presenting as a solitary firm subcutaneous nodule or plaque on the head and neck region or distal extremities. These tumors show histomorphologic heterogeneity, as they can be low and high grade. Distinguishing HAC from hidradenoma, especially the low-grade variant of HAC, can be challenging as both tumors can show histologic overlapping features. In this article, we describe a case of a 33-year-old patient presenting with a low-grade HAC of the plantar foot who was subsequently found to have lymph node metastasis.
Assuntos
Adenocarcinoma de Células Claras , Adenoma de Glândula Sudorípara , Carcinoma de Apêndice Cutâneo , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Humanos , Adulto , Recidiva Local de Neoplasia/patologia , Neoplasias das Glândulas Sudoríparas/cirurgia , Neoplasias das Glândulas Sudoríparas/patologia , Linfonodos/patologia , Adenoma de Glândula Sudorípara/patologia , Neoplasias Cutâneas/cirurgia , Neoplasias Cutâneas/patologia , Adenocarcinoma de Células Claras/patologia , Carcinoma de Apêndice Cutâneo/patologiaAssuntos
Carcinoma de Apêndice Cutâneo , Neoplasias de Tecido Conjuntivo , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Masculino , Humanos , Adulto Jovem , Adulto , Neoplasias das Glândulas Sudoríparas/diagnóstico , Neoplasias das Glândulas Sudoríparas/patologia , Carcinoma de Apêndice Cutâneo/patologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Glândulas Écrinas/patologiaRESUMO
Adnexal carcinomas are rare, accounting for less than 1% of skin carcinomas. Sclerosus carcinoma of the sweat glands was first described by Goldstein et al. in 1982. We here report the case of a 33-year-old female patient with a retracted perianal skin lesion. Histological examination of perilesional skin biopsy, immunohistochemistry, and negative results of laboratory tests, radiological and endoscopic investigations allowed for the diagnosis of eccrine sclerosus carcinoma. This is a rare tumor, usually characterized by facial localization and slow but aggressive progression. It poses problems in differential diagnosis with benign and malignant tumors; hence the challenge encountered by pathologist of suspecting this carcinoma in patients with any sclerotic and infiltrating skin lesion characterized by slow progression, in a context of preservation of the general state and in the absence of neoplastic history as well as of feeling free to ask for new deep biopsies when in doubt.
Assuntos
Neoplasias da Mama , Carcinoma de Apêndice Cutâneo , Carcinoma , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Adulto , Neoplasias da Mama/patologia , Carcinoma/patologia , Carcinoma de Apêndice Cutâneo/patologia , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias das Glândulas Sudoríparas/patologiaRESUMO
Background: Sebaceous carcinoma and sweat gland carcinoma (malignant tumours with apocrine and eccrine differentiation) are rare malignant adnexal tumours that differentiate toward sebaceous glands and eccrine and apocrine glands, respectively. Because of the rarity of these malignancies, standard treatments for advanced disease have yet to be established. The outcomes of patients with systemic metastasis remain poor, highlighting the need for novel treatment strategies. Nectin cell adhesion molecule 4 (NECTIN4) and its antibody-drug conjugate, enfortumab vedotin, have attracted attention as potential treatments for solid tumours. Objectives: To examine the potential use of NECTIN4-target therapy for sebaceous and sweat gland carcinoma. Materials & Methods: We immunohistochemically investigated NECTIN4 expression in 14 sebaceous carcinoma samples and 18 sweat gland carcinoma samples, and examined whether NECTIN4-targeted therapy could be applied to these cancers. Results: We found strong and frequent expression of NECTIN4 in both cancers. All tumours exhibited positive staining at least in a part of the lesion, and the mean H-score, a semiquantitative score ranging from 0 to 300, was 259.4 for sebaceous carcinoma and 253.1 for sweat gland carcinoma. Conclusion: Our results suggest that both sebaceous carcinoma and sweat gland carcinoma could be potentially treated with NECTIN4-targeted antibody-drug conjugates, such as enfortumab vedotin.
Assuntos
Carcinoma de Apêndice Cutâneo , Moléculas de Adesão Celular/metabolismo , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Glândulas Apócrinas/patologia , Carcinoma de Apêndice Cutâneo/patologia , Humanos , Neoplasias Cutâneas/patologia , Neoplasias das Glândulas Sudoríparas/patologiaAssuntos
Carcinoma de Apêndice Cutâneo , Neoplasias Cutâneas , Neoplasias das Glândulas Sudoríparas , Carcinoma de Apêndice Cutâneo/patologia , Demografia , Humanos , Mucinas , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Neoplasias das Glândulas Sudoríparas/diagnóstico , Neoplasias das Glândulas Sudoríparas/epidemiologia , Neoplasias das Glândulas Sudoríparas/patologia , Glândulas Sudoríparas/patologiaRESUMO
An 80-year-old female presented with a slowly growing 2-cm nodule on her shoulder over a 1-year period. Histopathologic sections of a biopsy specimen showed a multinodular, dermal-based basaloid tumor with areas of clear-cell change, stromal induction, as well as significant cytologic atypia and atypical mitotic activity. An initial investigation revealed positive staining of CDX2, a well-known marker of tumors of gastrointestinal origin. The case was referred to our dermatopathology service for consultation to determine if the lesion was in keeping with a cutaneous metastasis. On receipt of the case, an extended immunohistochemical panel was performed including SATB2, which displayed a similar pattern of staining as seen with CDX2. Although pathologists are most familiar with CDX2 and SATB2 as markers of gastrointestinal origin, the recent dermatopathology literature highlights that primary adnexal lesions of the skin also display positivity for CDX2 and can exhibit SATB2 positivity. We share a case of pilomatrix carcinoma with positive expression of nuclear CDX2 and SATB2, adding to the recent literature to (a) increase recognition of this staining pattern in hair follicle tumors, and (b) discuss briefly the shared molecular underpinnings in the tumorigenesis of gastrointestinal tumors and tumors of hair follicle origin that help clarify this underrecognized immunohistochemical pattern.
Assuntos
Fator de Transcrição CDX2/metabolismo , Carcinoma de Apêndice Cutâneo/metabolismo , Doenças do Cabelo/metabolismo , Proteínas de Ligação à Região de Interação com a Matriz/metabolismo , Neoplasias Cutâneas/metabolismo , Fatores de Transcrição/metabolismo , Idoso de 80 Anos ou mais , Biomarcadores Tumorais/metabolismo , Carcinoma de Apêndice Cutâneo/patologia , Feminino , Doenças do Cabelo/patologia , Humanos , Neoplasias Cutâneas/patologiaRESUMO
NUT carcinomas are genetically defined epithelial neoplasms. Most tumors harbor fusions of NUTM1 with BRD4 or BRD3. Their histopathologic features have been predominantly reported as undifferentiated or poorly differentiated squamous cell carcinoma, and clinically they tend to be aggressive cancers. However, recent studies have revealed a broader spectrum of NUTM1-rearranged neoplasms with several new fusion partners and associated variable histopathologic phenotypes and clinical behaviors, including benign and malignant cutaneous poroid tumors. We report herein a primary invasive carcinoma of skin adnexal origin with a previously undescribed fusion between BRD3 and NUTM2B. The tumor occurred on the shoulder of a 7-year-old girl and was excised with negative margins. A sentinel lymph node was positive. After follow-up of 23 months, and without systemic treatment, the child remains free of tumor. This case expands the spectrum of NUT carcinomas by including a skin adnexal variant with follicular infundibular differentiation, a novel genomic aberration, and preliminary evidence of a less aggressive clinical course.
Assuntos
Carcinoma de Apêndice Cutâneo/genética , Carcinoma de Apêndice Cutâneo/patologia , Proteínas de Neoplasias/genética , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Fatores de Transcrição/genética , Criança , Feminino , Humanos , Proteínas de Fusão Oncogênica/genéticaRESUMO
Cutaneous apocrine carcinomas share common features with their counterparts in the breast; hence, metastatic mammary carcinoma must be excluded before such lesions can be designated primary cutaneous neoplasms. Primary tumors from either source rarely exhibit neuroendocrine differentiation. We report a case of a 72-year-old female with a painless 1.2-cm scalp nodule. An incisional biopsy revealed dermal involvement by an invasive apocrine carcinoma juxtaposed to a benign apocrine cystic lesion. Immunohistochemically, the carcinoma expressed neuroendocrine proteins including synaptophysin, chromogranin, and CD56. A primary cutaneous apocrine carcinoma with neuroendocrine differentiation was favored, but additional investigations to exclude breast origin were recommended. These revealed a 1.1-cm nodule in the right breast, which proved to be an invasive ductal carcinoma, morphologically and immunophenotypically similar to the scalp lesion. This confounded the case, yet factors militating against metastatic breast carcinoma to skin included (a) the small size of the mammary tumor, (b) absence of other metastatic disease, and (c) juxtaposition of the scalp carcinoma to a putative benign precursor. Molecular studies were undertaken to resolve the diagnostic quandary. Single nucleotide polymorphism microarray analysis revealed distinct patterns of chromosomal copy number alterations in the two tumors, supporting the concept of synchronous and unusual primary neoplasms.
Assuntos
Neoplasias da Mama/patologia , Carcinoma Ductal de Mama/patologia , Carcinoma de Apêndice Cutâneo/patologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Cutâneas/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Idoso , Feminino , HumanosAssuntos
Carcinoma Ductal/terapia , Carcinoma de Apêndice Cutâneo/terapia , Cirurgia de Mohs/estatística & dados numéricos , Recidiva Local de Neoplasia/epidemiologia , Neoplasias das Glândulas Sudoríparas/terapia , Idoso , Idoso de 80 Anos ou mais , Biópsia , Carcinoma Ductal/diagnóstico , Carcinoma Ductal/patologia , Carcinoma de Apêndice Cutâneo/diagnóstico , Carcinoma de Apêndice Cutâneo/patologia , Glândulas Écrinas/patologia , Glândulas Écrinas/efeitos da radiação , Glândulas Écrinas/cirurgia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Recidiva Local de Neoplasia/prevenção & controle , Radioterapia Adjuvante/estatística & dados numéricos , Neoplasias das Glândulas Sudoríparas/diagnóstico , Neoplasias das Glândulas Sudoríparas/patologia , Resultado do Tratamento , Carga TumoralRESUMO
Hidradenoma papilliferum (HP) is a benign adnexal neoplasm of the vulva that typically presents as a unilateral, flesh-colored papule in the labium majus in middle-aged Caucasian women. It is considered to be a close counterpart of the intraductal papilloma of the breast. Malignant transformation is rare with few reports in the literature. We present a case of vulvar mammary-type apocrine hidradenocarcinoma arising in an HP.
Assuntos
Adenocarcinoma/diagnóstico , Carcinoma Intraductal não Infiltrante/diagnóstico , Carcinoma de Apêndice Cutâneo/diagnóstico , Adenomas Tubulares de Glândulas Sudoríparas/patologia , Adenocarcinoma/cirurgia , Carcinoma Intraductal não Infiltrante/patologia , Carcinoma de Apêndice Cutâneo/patologia , Diagnóstico Diferencial , Feminino , Humanos , Pessoa de Meia-Idade , Cirurgia de Mohs/métodos , Neoplasias das Glândulas Sudoríparas/patologia , Resultado do Tratamento , Adenomas Tubulares de Glândulas Sudoríparas/complicações , Adenomas Tubulares de Glândulas Sudoríparas/diagnóstico , Vulva/patologia , Neoplasias Vulvares/patologiaAssuntos
Carcinoma de Apêndice Cutâneo/diagnóstico , Neoplasias de Cabeça e Pescoço/secundário , Neoplasias Cutâneas/secundário , Carcinoma de Células Escamosas de Cabeça e Pescoço/diagnóstico , Neoplasias das Glândulas Sudoríparas/patologia , Idoso de 80 Anos ou mais , Alphapapillomavirus/isolamento & purificação , Biópsia/métodos , Carcinoma de Apêndice Cutâneo/patologia , Inibidor p16 de Quinase Dependente de Ciclina/metabolismo , Diagnóstico Diferencial , Feminino , Humanos , Linfadenopatia/patologia , Pescoço/patologia , Terapia Neoadjuvante/métodos , Metástase Neoplásica/diagnóstico , Metástase Neoplásica/patologia , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/patologia , Pele/patologia , Carcinoma de Células Escamosas de Cabeça e Pescoço/metabolismo , Carcinoma de Células Escamosas de Cabeça e Pescoço/terapia , Carcinoma de Células Escamosas de Cabeça e Pescoço/virologia , Resultado do TratamentoRESUMO
BACKGROUND/OBJECTIVES: Primary cutaneous apocrine carcinoma is a rare malignant adnexal skin tumour that can recur locally, spread to regional lymph nodes and metastatize to visceral organs. Wide dissemination and death from disease are much less common. The axilla is the most common site of presentation. It is infrequently reported in the head and neck region. METHODS: All cases diagnosed as primary cutaneous apocrine carcinoma of the head and neck were retrospectively collected from the archives of the Division of Pathological Anatomy, University of Florence from 1996 to 2016. There was no history or clinical evidence of breast cancer. Clinical data and follow-up were collected by the clinicians. RESULTS: Nine cases were found, with a mean age of 76 years, ranging in size between 0.3 and 3.5 cm. Clinically, they were frequently mistaken for basal cell carcinomas. Histopathologically, all the tumours showed decapitation secretion, a tubular, solid or mixed (tubulo-papillary and solid-tubular) growth pattern and were predominantly classified as grade 2 tumours. GCDFP-15 and hormone receptors were variably expressed. HER2 and podoplanin were negative in all cases. In one case, spreading to regional lymph nodes was observed. No cases were associated with death due to the disease. CONCLUSION: As immunohistochemical analysis lacks specificity in distinguishing primary cutaneous apocrine carcinoma from a cutaneous metastasis of breast carcinoma, detailed clinical history, breast examination, adequate treatment and follow-up are necessary to confirm a diagnosis of primary cutaneous apocrine carcinoma.
Assuntos
Adenocarcinoma/patologia , Glândulas Apócrinas/patologia , Carcinoma de Apêndice Cutâneo/patologia , Neoplasias de Cabeça e Pescoço/patologia , Neoplasias Cutâneas/patologia , Idoso , Feminino , Humanos , Imuno-Histoquímica , Estudos RetrospectivosRESUMO
Matrical carcinoma with melanocytic hyperplasia (MCMH), previously referred to as malignant melanocytic matricoma, is a rare variant of the uncommon pilomatrical carcinoma, occurring most often on the head/neck and upper backs of middle-aged men. Nodular lesions may resemble pigmented basal cell carcinoma or melanoma clinically. We present a case of MCMH in a Hispanic patient with history of melanoma. Histopathological clues to appropriate diagnosis include basaloid cells, numerous atypical mitotic figures, matrical differentiation, shadow cells, strong diffuse nuclear and cytoplasmic expression of ß-catenin, and interspersed pigmented dendritic melanocytes.
Assuntos
Carcinoma Basocelular , Carcinoma de Apêndice Cutâneo , Doenças do Cabelo , Melanócitos , Melanoma , Neoplasias Cutâneas , Idoso de 80 Anos ou mais , Carcinoma Basocelular/diagnóstico , Carcinoma Basocelular/metabolismo , Carcinoma Basocelular/patologia , Carcinoma de Apêndice Cutâneo/diagnóstico , Carcinoma de Apêndice Cutâneo/metabolismo , Carcinoma de Apêndice Cutâneo/patologia , Diagnóstico Diferencial , Doenças do Cabelo/diagnóstico por imagem , Doenças do Cabelo/metabolismo , Doenças do Cabelo/patologia , Humanos , Masculino , Melanócitos/metabolismo , Melanócitos/patologia , Melanoma/diagnóstico , Melanoma/metabolismo , Melanoma/patologia , México , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/metabolismo , Neoplasias Cutâneas/patologia , Melanoma Maligno CutâneoAssuntos
Carcinoma Basocelular/patologia , Carcinoma de Apêndice Cutâneo/diagnóstico , Neoplasias das Glândulas Sudoríparas/diagnóstico , Glândulas Sudoríparas/patologia , Idoso , Biomarcadores Tumorais/análise , Carcinoma Basocelular/diagnóstico , Carcinoma de Apêndice Cutâneo/patologia , Dermoscopia , Feminino , Humanos , Metaplasia/diagnóstico por imagem , Metaplasia/patologia , Nariz , Neoplasias das Glândulas Sudoríparas/patologia , Glândulas Sudoríparas/diagnóstico por imagemAssuntos
Antimetabólitos Antineoplásicos/administração & dosagem , Carcinoma de Apêndice Cutâneo/terapia , Neoplasias Labiais/terapia , Recidiva Local de Neoplasia/terapia , Ácido Oxônico/administração & dosagem , Neoplasias das Glândulas Sudoríparas/terapia , Tegafur/administração & dosagem , Administração Oral , Idoso , Carcinoma de Apêndice Cutâneo/patologia , Quimioterapia Adjuvante/métodos , Combinação de Medicamentos , Feminino , Humanos , Lábio/patologia , Lábio/efeitos da radiação , Lábio/cirurgia , Neoplasias Labiais/patologia , Recidiva Local de Neoplasia/patologia , Radioterapia Adjuvante/métodos , Neoplasias das Glândulas Sudoríparas/patologia , Resultado do TratamentoRESUMO
Squamoid eccrine ductal carcinoma (SEDC) is an uncommon cutaneous adnexal malignancy that has the potential for an aggressive clinical course. The authors present a case of SEDC that resulted in widespread metastases and death. The clinical, histological, and immunohistochemical features of SEDC and several entities on the differential diagnosis are reviewed.