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1.
J Cutan Pathol ; 48(8): 1069-1074, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-33882152

RESUMO

Secretory carcinoma of the skin is an extremely rare adnexal tumor, histopathologically identical to homologous lesions in the salivary glands and breast tissue. Although this tumor was previously reported as indolent, we report a case of secretory carcinoma of the skin with metastases and recurrence. The patient, a 31-year-old women, had a subcutaneous mass in the right axilla. The resected specimen contained a circumscribed mass, with proliferating tumor cells that exhibited prominent nucleoli. They exhibited glandular and papillary growth patterns and there were amphophilic secretions in the glands. Immunohistochemically, the tumor cells were positive for mammaglobin and S100. The tumor was surrounded by sweat glands and there was no mammary glandular tissue, suggesting that it was derived from axillary sweat glands. Accordingly, we made a diagnosis of secretory carcinoma of the skin. Four years after the operation, there were metastases in both lungs. The resected specimen revealed a tumor identical to that of the original skin tumor. Next-generation sequencing-based multiplex gene assay performed on the metastatic tissue revealed an ETV6-NTRK3 fusion gene. This is a rare case report of secretory carcinoma of the skin with lymph node metastases and recurrence in both lungs.


Assuntos
Neoplasias Pulmonares/secundário , Metástase Linfática/patologia , Carcinoma Secretor Análogo ao Mamário/diagnóstico , Neoplasias Cutâneas/patologia , Glândulas Sudoríparas/patologia , Adulto , Diagnóstico Diferencial , Feminino , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Humanos , Imuno-Histoquímica/métodos , Neoplasias Pulmonares/cirurgia , Metástase Linfática/radioterapia , Carcinoma Secretor Análogo ao Mamário/metabolismo , Carcinoma Secretor Análogo ao Mamário/secundário , Carcinoma Secretor Análogo ao Mamário/cirurgia , Recidiva Local de Neoplasia , Proteínas de Fusão Oncogênica/genética , Proteínas S100/metabolismo , Secretoglobinas/metabolismo , Glândulas Sudoríparas/metabolismo , Cirurgia Torácica Vídeoassistida/métodos
2.
Rev. esp. patol ; 53(2): 117-120, abr.-jun. 2020. ilus
Artigo em Espanhol | IBECS | ID: ibc-194652

RESUMO

El carcinoma secretor de mama es una entidad poco frecuente caracterizada por un material eosinófilo, acelular y PAS diastasa positivo intra- y extracelular. Su curso clínico es benigno sin presentar recidivas ni metástasis pese a su fenotipo triple negativo. Suele presentarse en gente joven y la multicentricidad es muy inusual. Presentamos el caso de una mujer de 32 años con un carcinoma secretor de mama multicéntrico, realizando un análisis de la literatura y estudiando las principales características de esta entidad


Secretory carcinoma of the breast is a rare entity, characterized by the presence of intra- and extracellular, eosinophilic and acelular secretions. They are negative for hormone receptors and do not express human epidermal growth factor receptor HER-2/neu. However, the clinical outcome is favorable. Multicentricity is very unusual. We report a case of a 32-year-old woman with a multicentric secretory carcinoma of the breast. The main pathological features are discussed together with a review of the pertinent literature


Assuntos
Humanos , Feminino , Adulto , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/cirurgia , Carcinoma Secretor Análogo ao Mamário/diagnóstico , Carcinoma Secretor Análogo ao Mamário/cirurgia , Biópsia Guiada por Imagem , Biópsia por Agulha Fina , Mastectomia
3.
Tunis Med ; 98(2): 168-171, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-32395809

RESUMO

BACKGROUND: Mammary analogue secretory carcinoma is a rare new entity of low-grade malignant tumor of salivary glands. It shared the same histologic features and the chromosomal translocation t(12;15)(p13;q25) as secretory carcinoma of the breast. AIM: To highlight the diagnosis approaches and the attitude of management in a case of MASC which is the first case reported in Tunisia. Reported case: A case of MASC of the lower left jugal mucosa was reviewed for its microscopic and immunohistochemical features. Fluorescence in situ hybridization (FISH) for the ETV6-NTRK3 translocation was performed. Surgery was the only treatment required in this case. No signs of local or regional recurrence during the one-year follow-up were noticed. COMMENTARIES: Secretory carcinoma was confused with other salivary gland tumors especially acinic cell carcinoma due to their morphological similarities, making diagnosis dilemma. Fluorescence in-situ hybridization (FISH) is the one definitive finding to confirm the diagnosis of MASC and to differentiate it from the other types of salivary gland tumor. At the present time, no specific therapy is available for patients with MASC.


Assuntos
Carcinoma Secretor Análogo ao Mamário/diagnóstico , Anoctamina-1/análise , Anoctamina-1/metabolismo , Bochecha/patologia , Análise Citogenética , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Mamoglobina A/análise , Mamoglobina A/metabolismo , Carcinoma Secretor Análogo ao Mamário/genética , Carcinoma Secretor Análogo ao Mamário/cirurgia , Mucosa Bucal/metabolismo , Mucosa Bucal/patologia , Proteínas de Neoplasias/análise , Proteínas de Neoplasias/metabolismo , Proteínas de Fusão Oncogênica/análise , Proteínas de Fusão Oncogênica/genética , Proteínas S100/análise , Proteínas S100/metabolismo , Tunísia
4.
Am J Surg Pathol ; 42(6): 735-743, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29543674

RESUMO

Secretory carcinoma, originally described as mammary analog secretory carcinoma (MASC), is a low-grade salivary gland tumor characterized by a t(12;15)(p13;q25) translocation, resulting in an ETV6-NTRK3 gene fusion. Most MASCs are localized to the parotid gland and intraoral minor salivary glands. Moreover, ETV6-rearranged carcinomas with secretory features have been reported recently in the thyroid (with and without a history of radiation exposure), skin, and in very rare instances in the sinonasal tract. Here, we describe 2 cases of primary MASC in the sinonasal tract and provide a detailed clinical and histopathologic characterization of their morphology, immunohistochemical profile, and genetic background and highlight features allowing for its separation from its recently described molecular mimicker, ETV6-rearranged low-grade sinonasal adenocarcinoma.


Assuntos
Adenocarcinoma/patologia , Carcinoma Secretor Análogo ao Mamário/patologia , Cavidade Nasal/patologia , Neoplasias Nasais/patologia , Adenocarcinoma/química , Adenocarcinoma/genética , Idoso , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Biópsia , Diagnóstico Diferencial , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Carcinoma Secretor Análogo ao Mamário/química , Carcinoma Secretor Análogo ao Mamário/genética , Carcinoma Secretor Análogo ao Mamário/cirurgia , Pessoa de Meia-Idade , Cavidade Nasal/química , Cavidade Nasal/cirurgia , Gradação de Tumores , Neoplasias Nasais/química , Neoplasias Nasais/genética , Neoplasias Nasais/cirurgia , Proteínas de Fusão Oncogênica/genética , Valor Preditivo dos Testes , Sistema de Registros , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Tomografia Computadorizada por Raios X
5.
ANZ J Surg ; 88(3): 152-157, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28982213

RESUMO

Salivary gland cancers are a complex group of tumours with variations in location, type and grade, all of which influence their biological behaviour. The understanding of salivary gland pathology has evolved at the molecular level in the last decade leading to identification of distinct entities, development of improved methods of diagnosis as well as identifying therapeutic targets for selected high-grade tumours. This article focuses on these advances and their impact on the management of primary salivary gland cancers.


Assuntos
Patologia Molecular/métodos , Neoplasias das Glândulas Salivares/epidemiologia , Neoplasias das Glândulas Salivares/patologia , Biomarcadores Tumorais/metabolismo , Carcinoma Mucoepidermoide/metabolismo , Carcinoma Mucoepidermoide/patologia , Carcinoma Mucoepidermoide/cirurgia , Evolução Molecular , Feminino , Humanos , Masculino , Carcinoma Secretor Análogo ao Mamário/metabolismo , Carcinoma Secretor Análogo ao Mamário/patologia , Carcinoma Secretor Análogo ao Mamário/cirurgia , Neoplasias das Glândulas Salivares/metabolismo , Neoplasias das Glândulas Salivares/cirurgia , Cirurgia Bucal/tendências
6.
Hum Pathol ; 74: 109-113, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-29104113

RESUMO

Mammary analogue secretory carcinoma (MASC) is a recently discovered salivary gland tumor described mostly in the major salivary glands and occasionally in the skin. We report a primary endobronchial tumor with histology, immunophenotype, and ETV6 rearrangement characteristic of MASC in a 62-year-old woman. The diagnosis was initially made on a transbronchial biopsy with fluorescence in situ hybridization confirmation of ETV6 rearrangement. The patient underwent lobectomy demonstrating a large endobronchial mass. To our knowledge, this is the first report of MASC arising as a primary pulmonary tumor. This tumor was unusual in that it is the largest (8.5 cm) MASC ever reported, showed an increased mitotic count (6/10 high-power fields) without high-grade cytology, and presented with advanced-stage disease that included visceral pleural invasion and lymph node metastasis.


Assuntos
Neoplasias Pulmonares/patologia , Carcinoma Secretor Análogo ao Mamário/patologia , Feminino , Rearranjo Gênico , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/cirurgia , Carcinoma Secretor Análogo ao Mamário/genética , Carcinoma Secretor Análogo ao Mamário/cirurgia , Pessoa de Meia-Idade , Proteínas Proto-Oncogênicas c-ets/genética , Proteínas Repressoras/genética , Resultado do Tratamento , Variante 6 da Proteína do Fator de Translocação ETS
7.
J Cutan Pathol ; 43(11): 1045-1049, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27506949

RESUMO

Mammary analog secretory carcinoma of salivary glands is a relatively recently recognized entity that harbors the ETV6-NTRK3 fusion transcript. To date, only rare cases of mammary analog secretory carcinoma of the skin have been reported. A 57-year-old man presented with a 6.0 cm cystic mass in the axilla, involving the dermis and superficial subcutis. Microscopically, the tumor exhibited nodular aggregation of tubular and microcystic structures embedded in the dense fibrotic and hyalinized stroma. Characteristic 'colloid-like' eosinophilic secretory material was present within intraluminal spaces. Tumor cells were largely characterized by vesicular nuclei with inconspicuous nucleoli and pink vacuolated cytoplasm. With respect to immunohistochemistry, tumor cells were intensely positive for AE1/AE3, Cam 5.2, and CK7, whereas Ber-EP4 and CEA were completely negative. A dual color break-apart fluorescence in situ hybridization probe identified rearrangement of the ETV6 gene locus on chromosome 12. The patient is alive with no evidence of recurrent disease or metastasis 3 years after the initial surgery. In conclusion, we report a rare example of mammary analog secretory carcinoma of the skin with ETV6 rearrangement. Awareness of this unique cutaneous tumor and subsequent reporting of additional cases is necessary for better characterization of its completely clinicopathologic spectrum.


Assuntos
Carcinoma Secretor Análogo ao Mamário/cirurgia , Proteínas de Fusão Oncogênica/genética , Humanos , Hibridização in Situ Fluorescente , Masculino , Carcinoma Secretor Análogo ao Mamário/genética , Pessoa de Meia-Idade , Translocação Genética , Resultado do Tratamento
8.
J Craniofac Surg ; 27(4): e364-6, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27192652

RESUMO

Mammary analogue secretory carcinoma of salivary glands harbors the recurrent ETV6-NTRK3 gene fusion because of the translocation t (12; 15) (p13; q25) and resembles breast secretory carcinoma. This tumor composed of papillary, cystic, solid, and cribriform patterns. Immunohistochemically, the tumors are positive for mammaglobin, CK7, CK8, STAT5a, vimentin, and S100. In this report, the authors presented a patient of recurrent parotid gland mammary analogue secretory carcinoma in a 22-year-old woman. The patient received extended parotidectomy with partial adhesive masseter surgery. The facial nerve was preserved during the surgery and adjuvant radiotherapy was performed postoperation. The patient did not suffer local recurrence and facial paralysis in the 18 months follow-up period.


Assuntos
Carcinoma Secretor Análogo ao Mamário/cirurgia , Recidiva Local de Neoplasia/cirurgia , Glândula Parótida/diagnóstico por imagem , Neoplasias Parotídeas/cirurgia , Biópsia por Agulha Fina , Feminino , Humanos , Carcinoma Secretor Análogo ao Mamário/diagnóstico , Carcinoma Secretor Análogo ao Mamário/radioterapia , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/radioterapia , Neoplasias Parotídeas/diagnóstico , Neoplasias Parotídeas/radioterapia , Radioterapia Adjuvante , Tomografia Computadorizada por Raios X , Adulto Jovem
9.
Am J Otolaryngol ; 36(6): 741-3, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26545463

RESUMO

Mammary analogue secretory carcinoma (MASC) is a recently described entity in the differential diagnosis of salivary gland tumors. It is notable for a characteristic t(12;15)(p13;q25) translocation that results in a unique fusion protein, ETV6-NTRK3. While several studies have retrospectively identified this translocation in cases previously diagnosed as a different salivary malignancy, there have been relatively few cases where this translocation was identified on initial pathology results, and fewer still in a pediatric population. We present a case of a 15 year old female with a slowly enlarging, painless, left facial mass. MRI demonstrated a cystic mass extending into the deep lobe of the parotid, and she underwent parotidectomy. The tumor cells stained positive for S100 and CK19. ETV6 translocation was present, confirming the diagnosis. Mammary analogue secretory carcinoma is a recently described tumor of the salivary glands, which often masquerades as more common primary salivary gland tumors and cysts. More research is needed to characterize the typical behavior of this neoplasm and the optimal treatment regimen. With identification of its characteristic translocation, mammary analogue secretory carcinoma can be easily differentiated from its more prevalent counterparts, and should therefore remain within the differential of the pathologist and head and neck surgeon.


Assuntos
Carcinoma Secretor Análogo ao Mamário/patologia , Neoplasias Parotídeas/patologia , Adolescente , Feminino , Humanos , Carcinoma Secretor Análogo ao Mamário/metabolismo , Carcinoma Secretor Análogo ao Mamário/cirurgia , Proteínas de Fusão Oncogênica/genética , Proteínas de Fusão Oncogênica/metabolismo , Neoplasias Parotídeas/metabolismo , Neoplasias Parotídeas/cirurgia , Translocação Genética
10.
Am J Dermatopathol ; 37(4): e41-4, 2015 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-25140660

RESUMO

Mammary analog secretory carcinoma (MASC) is a rare type of salivary gland tumor named for its morphological and genetic similarity to secretory carcinoma of the breast. These tumors are most often found in the parotid gland but have been described in several other mucosal locations of the head and neck. In this case report, a cutaneous lesion most closely resembling MASC was found in a neck mass of a 64-year-old male patient without evidence of a primary salivary gland or oral tumor. The lesion was excised, and the patient remains disease free to date. This case depicts a rare tumor in the skin most closely mimicking MASC and brings additional awareness to dermatopathologists of this tumor.


Assuntos
Carcinoma Secretor Análogo ao Mamário/patologia , Neoplasias das Glândulas Salivares/patologia , Neoplasias Cutâneas/patologia , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Biópsia , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Masculino , Carcinoma Secretor Análogo ao Mamário/química , Carcinoma Secretor Análogo ao Mamário/genética , Carcinoma Secretor Análogo ao Mamário/cirurgia , Pessoa de Meia-Idade , Neoplasias das Glândulas Salivares/química , Neoplasias das Glândulas Salivares/genética , Neoplasias das Glândulas Salivares/cirurgia , Neoplasias Cutâneas/química , Neoplasias Cutâneas/cirurgia , Resultado do Tratamento
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