Diagnostic challenges of adenomyoepithelioma: A case report.

INTRODUCTION: Breast adenomyoepithelioma is a very uncommon tumor, which is generally considered to be benign, however malignant transformation has been reported. PRESENTATION OF CASE: We report two cases of two women with breast adenomyoepithelioma. CONCLUSION: Diagnosis of adenomyoepithelioma is challenging because tumor may mimic other breast diseases. It has neither specific clinical signs nor radiological features, and the diagnosis is based on histopathological examination of the lesion. The treatment of choice is surgery. The type of surgery depends on the tumor factors and breast size. In malignant cases treatment such as radiotherapy, chemotherapy, immunotherapy may be used as well. It is very important to give an adequate treatment, otherwise the risk of tumor recurrence, growth or even metastatic spread, when tumor has malignant potential, increases.

Adenomyoepithelioma of the Breast: A Report of 3 Cases.

BACKGROUND Breast adenomyoepithelioma is a rare benign breast tumor characterized by a biphasic proliferation of epithelial and myoepithelial cells with variable clinical and diagnostic features. Establishing the diagnosis, determining optimal therapy, and predicting outcome are problematic because of the rarity of this entity. There have been only 2 large series of adenomyoepitheliomas of the breast, reported by Tavassoli and Rosen, which included 27 and 18 patients, respectively. In this report, we present 3 cases of breast adenomyoepithelioma. CASE REPORT Herein, we report 3 cases of breast adenomyoepithelioma. The first case is of a 64-year-old woman who was found to have right breast microcalcification on a screening mammogram. The second case is of a 74-year-old woman who had a right breast mass. These 2 patients were managed by wide local excision. Postoperative microscopic examination revealed adenomyoepithelioma. The third case is of a 49-year-old woman with bilateral saline breast implants who presented with a left breast mass. A core needle biopsy was done and revealed adenomyoepithelioma associated with usual ductal hyperplasia and ductal carcinoma in situ. CONCLUSIONS Breast adenomyoepithelioma is a rare condition that can pose diagnostic challenges due to variable imaging presentations, necessitating percutaneous core biopsy for initial diagnosis. Correct diagnosis is usually possible only on excisional biopsy and confirmed by demonstrating the biphasic nature of the tumor by IHC. Clinical suspicion coupled with utilizing both radiological and histopathological facilities can aid in the accurate diagnosis and management. For the most part, they are considered to be benign, but they can locally recur.

Benign adenomyoepithelioma of the breast: a case report.

The diagnosis of adenomyoepitheliomas is difficult and relies on the presence of a double component of epithelial and myoepithelial cells belonging to the breast lobules and ducts. The clinical and imaging characteristics are not specific; thus, the diagnosis is histological. In this article, we present a case of a young female who presented with a 2 cm lump in the breast without other clinical symptoms, which revealed a benign adenomyoepithelioma (AME). We performed a large excisional lumpectomy, and the patient recovered well with no complication or recurrence within two years follow-up. When it comes to adenomyoepitheliomas, the published literature is mainly composed of case reports, so much so that there are no evidence-based guidelines. Our case shows that an excisional lumpectomy is often enough when facing a small size tumor with no signs of malignancy, which contributes to the limited data on the subject.

Combination of Adenomyoepithelioma and Adenoid Cystic Carcinoma of the Breast: A Case Report of an Uncommon Histopathological Entity.

BACKGROUND Adenomyoepithelioma and adenoid cystic carcinoma are uncommon types of breast tumors. Adenoid cystic carcinoma accounts for 0.1% of breast neoplasms and typically presents as a tender breast tumor, mostly in the subareolar area. Adenoid cystic carcinoma usually appears in women in the fifth or sixth decade of life and predominantly presents as a mixed tumor, with cribriform, tubular, and solid growth characteristics. Adenomyoepithelioma of the breast shows epithelial and smooth muscle characteristics. Adenomyoepithelioma rarely goes through malignant transformation and is an uncommon type of benign breast tumor. CASE REPORT Our study reviews the current published literature regarding the combination of these 2 rare neoplasms of the breast and shows a rare case of a 48-year-old woman with a combination of adenoid cystic carcinoma and adenomyoepithelioma. CONCLUSIONS The combination of adenoid cystic carcinoma and adenomyoepithelioma should be part of the differential diagnosis in breast cancer. More research is needed regarding the optimal therapy, which is currently surgical excision.

Histopathological and immunohistochemical characteristics of malignant adenomyoepithelioma in a cat: case report / [Características histopatológicas e imuno-histoquímicas do adenomioepitelioma maligno em gata: relato de caso]

The malignant adenomyoepithelioma is a rare mammary tumor in women and uncommon in cats with only one report in this species. In this case report, the histopathological and immunohistochemical characteristics of six cases of malignant adenomyopithelioma in the feline mammary gland are described. Microscopic evaluation of tumors showed dense cellular neoplastic proliferation, composed of malignant myoepithelial and epithelial cells, formed by varied arrangements and presenting papillary, tubular and solid nest proliferation. Immunohistochemistry was performed for markers Ki67, Cox-2, RE, RP, p63 and HER-2. All cases were positive for p63, confirming the myoepithelial nature of neoplastic cells. The diagnosis of malignant adenomyopithelioma was made possible through the association between histopathological characteristics and immunohistochemical results.(AU)

O adenomioepitelioma maligno é uma neoplasia mamária rara em mulheres e incomum em gatas, possuindo apenas uma descrição nessa espécie. Neste relato de caso, são descritas as características histopatológicas e imuno-histoquímicas de seis casos de adenomioepitelioma maligno na glândula mamária felina. A avaliação microscópica dos tumores demonstrou proliferação neoplásica densamente celular, composta por células mioepiteliais e epiteliais malignas dispostas em padrão papilar, tubular e ninhos sólidos. Foi realizada técnica de imuno-histoquímica para os marcadores Ki67, Cox-2, RE, RP, p63 e HER-2. Todos os casos foram positivos para p63, confirmando a natureza mioepitelial das células neoplásicas. O diagnóstico de adenomioepitelioma maligno foi possível por meio da associação entre as características histopatológicas e os resultados de imuno-histoquímica.(AU)

Cutaneous adenomyoepithelioma with histopathological heterogeneity: A case report.

Some skin adnexal tumors display both epithelial and myoepithelial cell populations and can be broadly categorized as biphasic tumors. These include apocrine hidrocystoma, mixed tumor, adenomyoepithelioma (AME), and adenoid cystic carcinoma (ACC). Myoepithelioma is the myoepithelial cell-predominant type in this category. Cutaneous AME is exceedingly rare and usually has a benign prognosis, but it is considered to have the potential for local recurrence and metastasis. We report the case of a 57-year-old man with a 1-year history of an ulcerated nodule on his scalp. Microscopically, it was a defined cutaneous nodule with a focal lobulated architecture, composed of epithelial cells forming ducts and myoepithelial cells distributed around the ducts. In addition to these findings of typical AME, the present case focally revealed atypical features, such as increased mitotic activity (7/10 high power fields), invasive growth, and necrosis. However, cytological atypia was not significant. We conclusively diagnosed cutaneous AME with atypical features, suggesting malignant potential. Moreover, areas showing appearances similar to apocrine hidrocystoma, mixed tumor, myoepithelioma, and ACC were focally observed. We present a unique case of cutaneous AME exhibiting histopathological heterogeneity. The recognition of morphological variation could be helpful in appropriately diagnosing and treating AME of the skin.

A Case of Adenomyoepithelioma With a Pleomorphic Adenoma-Like Component of the Male Breast.

Adenomyoepithelioma (AME) of the male breast is a rare tumor characterized by biphasic proliferation of gland epithelial cells and myoepithelial cells. Though pleomorphic adenoma (PA) is also known to be an epithelial-myoepithelial tumor in the breast, and these tumors are considered to exist on the same spectrum by some authors, to the best of our knowledge, there have been no reports of a clear transition from AME to PA in the male breast. Therefore, the case of an 85-year-old man with AME with PA-like components is presented.

Problematic breast tumors reassessed in light of novel molecular data.

Breast cancer is a vastly heterogeneous disease encompassing a panoply of special histological subtypes. Although rare breast tumors have largely not been investigated systematically in large scale genomics series, recent studies have shed light on the genetic underpinnings of special histologic subtypes of breast cancer. Genomic analyses of estrogen receptor-positive special histologic types of breast cancer have not resulted in the identification of novel pathognomonic genetic alterations in addition to the confirmation of the presence of CDH1 loss-of-function mutations in invasive lobular carcinomas. By contrast, the analyses of triple-negative breast cancers have demonstrated that low-grade triple-negative breast cancers categorically differ from the common forms of high-grade triple-negative disease biologically and phenotypically and are underpinned by specific fusion genes or hotspot mutations. A subset of low-grade triple-negative disease has been shown to harbor highly recurrent if not pathognomonic genetic alterations, such as ETV6-NTRK3 fusion gene in secretory carcinomas, the MYB-NFIB fusion gene, MYBL1 rearrangements or MYB gene amplification in adenoid cystic carcinomas, and HRAS Q61 hotspot mutations coupled with mutations in PI3K pathway genes in estrogen receptor-negative adenomyoepitheliomas. A subset of these pathognomonic genetic alterations (e.g., NTRK1/2/3 fusion genes) now constitute an FDA approved indication for the use of TRK inhibitors in the advanced/metastatic setting. These studies have also corroborated that salivary gland-like tumors of the breast, other than acinic cell carcinomas, harbor the repertoire of somatic genetic alterations detected in their salivary gland counterparts. Reassuringly, the systematic study of special histologic types of breast cancer utilizing state-of-the-art sequencing approaches, rather than rendering pathology obsolete, has actually strengthened the importance of breast cancer histologic typing and is providing additional ancillary markers for the diagnosis of these rare but fascinating entities.

Primary Cutaneous Adenomyoepithelioma Ex Spiradenoma With Malignant Histologic Features, Epithelial-Myoepithelial Carcinoma Type: A First Case Report With Molecular Studies.

Adenomyoepithelioma is an extremely rare primary cutaneous neoplasm. Although there is ample evidence on the existence of malignant adenomyoepithelioma in the breast, a malignant counterpart in the skin has not been documented. We report a primary cutaneous adenomyoepithelioma (pcAME) with malignant features arising from a spiradenoma in a 39-year-old female patient. The tumor was solid-cystic in appearance and entirely located in the subcutaneous tissue. Histologically, the tumor displayed foci of adenomatous changes and adenomyoepitheliomatous hyperplasia adjacent to a minute spiradenoma. Gradual increase of architectural complexity, cytologic atypia, mitotic activity, and infiltrative growth were observed in a significant portion of the neoplasm, indicative of transformation to adenomyoepithelioma and subsequently low- to high-grade salivary-type epithelial-myoepithelial carcinoma (EMCA). The intimate dual populations of ductal and myoepithelial cells were highlighted by a panel of immunohistochemical stains in all different components of the tumor. Molecular studies revealed a PIKCA3 mutation, a genetic aberration that has been documented in EMCA, particularly of breast origin. The current case documents for the first time a pcAME with malignant features arising from a spiradenoma and suggests adenomyoepithelioma ex spiradenoma as a possible tumorigenesis pathway of this rare cutaneous tumor.

Immunohistochemical assessment of HRAS Q61R mutations in breast adenomyoepitheliomas.

AIMS: Breast adenomyoepitheliomas (AMEs) are uncommon tumours. Most oestrogen receptor (ER)-positive AMEs have mutations in phosphoinositide 3-kinase (PI3K) pathway genes, whereas ER-negative AMEs usually harbour concurrent mutations affecting the HRAS Q61 hotspot and PI3K pathway genes. Here, we sought to determine the sensitivity and specificity of RAS Q61R immunohistochemical (IHC) analysis for detection of HRAS Q61R mutations in AMEs. METHODS AND RESULTS: Twenty-six AMEs (14 ER-positive; 12 ER-negative) previously subjected to massively parallel sequencing (n = 21) or Sanger sequencing (n = 5) of the HRAS Q61 hotspot locus were included in this study. All AMEs were subjected to IHC analysis with a monoclonal (SP174) RAS Q61R-specific antibody, in addition to detailed histopathological analysis. Nine ER-negative AMEs harboured HRAS mutations, including Q61R (n = 7) and Q61K (n = 2) mutations. Five of seven (71%) AMEs with HRAS Q61R mutations were immunohistochemically positive, whereas none of the AMEs lacking HRAS Q61R mutations (n = 17) were immunoreactive. RAS Q61R immunoreactivity was restricted to the myoepithelium in 80% (4/5) of cases, whereas one case showed immunoreactivity in both the epithelial component and the myoepithelial component. RAS Q61R immunohistochemically positive AMEs were associated with infiltrative borders (P < 0.001), necrosis (P < 0.01) and mitotic index in the epithelial (P < 0.05) and myoepithelial (P < 0.01) components. RAS Q61R IHC assessment did not reveal Q61K mutations (0/2). CONCLUSIONS: IHC analysis of RAS Q61R shows high specificity (100%) and moderate sensitivity (71%) for detection of HRAS Q61R mutations in breast AMEs, and appears not to detect HRAS Q61K mutations. IHC analysis of RAS Q61R may constitute a useful technique in the diagnostic workup of ER-negative AMEs.

Adenomioepitelioma de mama. Presentación de un caso / Adenomyoepithelioma of the breast. A case presentation

RESUMEN El adenomioepitelioma es un tumor de la mama poco frecuente, generalmente de comportamiento benigno, de histología variable, que puede simular otras lesiones epiteliales, mioepiteliales y bifásicas de la mama. Patológicamente es un desorden raro caracterizado por la proliferación simultánea de las células del epitelio ductal y células mioepiteliales. Es más común en las glándulas salivales o en la piel, raras veces es encontrado en el tejido mamario. Afecta fundamentalmente al sexo femenino, alrededor de los 50 años de edad. Clínicamente se presenta por una pequeña masa palpable que ocupa cuadrantes centrales de la mama. El tratamiento de elección es la exéresis amplia de la lesión. Es frecuente la recidiva local y en algunas ocasiones puede tener degeneración maligna. Se presentó una paciente 13 años de edad, que acudió al Servicio de Cirugía del Hospital "Dr. Mario Muñoz Monroy" , municipio Colón, provincia de Matanzas con un tumor de consistencia dura; pero no pétreo, de 8-10 cm de diámetro, en cuadrantes inferiores y región retroareolar de la mama derecha. El estudio sonográfico informó la presencia de una imagen hipoecoica, de forma oval. Se realizó exéresis de la lesión. El estudio patológico e inmunohistoquímico aportó un adenomioepitelioma de la mama. La paciente no presentó complicaciones postoperatorias. Actualmente se sigue por consulta a 7 años de la cirugía (AU).

ABSTRACT Adenomyoepithelioma is a very rare and generally benign tumor of varying histology that can simulate other epithelial, myoepithelial and biphasic lesions of the breast. Pathologically it is rare disorder characterized by the simultaneous proliferation of ductal epithelium and myoepithelial cells. It is more common in salivary glands and in skin. Rarely found in mammal tissue, it mainly affects women, aged around 50 years, and clinically presents like a palpable mass occupying central breast quadrants. The treatment of choice is the extensive excision of the lesion. Local recidivisms is very frequent, and sometimes they could have malignant degeneration. The authors present the case of a female patient, aged 13 years, who assisted the service of Surgery of the Hospital "Dr. Mario Muñoz Monroy", municipality of Colon, province of Matanzas with a tumor of hard consistence, of 8-10 cm diameter, in lower quadrants and retro alveolar region of the right mamma. The sonographic study informed the presence of a hypoechoic, oval image. The lesion was excised. The pathological and immunohistochemical study showed a breast adenomyoepithelioma. The patient did not have post-surgery complications. Currently she is followed in consultation after seven years of the surgery (AU).

Adenomioepitelioma de mama. Presentación de un caso / Adenomyoepithelioma of the breast. A case presentation

RESUMEN El adenomioepitelioma es un tumor de la mama poco frecuente, generalmente de comportamiento benigno, de histología variable, que puede simular otras lesiones epiteliales, mioepiteliales y bifásicas de la mama. Patológicamente es un desorden raro caracterizado por la proliferación simultánea de las células del epitelio ductal y células mioepiteliales. Es más común en las glándulas salivales o en la piel, raras veces es encontrado en el tejido mamario. Afecta fundamentalmente al sexo femenino, alrededor de los 50 años de edad. Clínicamente se presenta por una pequeña masa palpable que ocupa cuadrantes centrales de la mama. El tratamiento de elección es la exéresis amplia de la lesión. Es frecuente la recidiva local y en algunas ocasiones puede tener degeneración maligna. Se presentó una paciente 13 años de edad, que acudió al Servicio de Cirugía del Hospital "Dr. Mario Muñoz Monroy" , municipio Colón, provincia de Matanzas con un tumor de consistencia dura; pero no pétreo, de 8-10 cm de diámetro, en cuadrantes inferiores y región retroareolar de la mama derecha. El estudio sonográfico informó la presencia de una imagen hipoecoica, de forma oval. Se realizó exéresis de la lesión. El estudio patológico e inmunohistoquímico aportó un adenomioepitelioma de la mama. La paciente no presentó complicaciones postoperatorias. Actualmente se sigue por consulta a 7 años de la cirugía.

ABSTRACT Adenomyoepithelioma is a very rare and generally benign tumor of varying histology that can simulate other epithelial, myoepithelial and biphasic lesions of the breast. Pathologically it is rare disorder characterized by the simultaneous proliferation of ductal epithelium and myoepithelial cells. It is more common in salivary glands and in skin. Rarely found in mammal tissue, it mainly affects women, aged around 50 years, and clinically presents like a palpable mass occupying central breast quadrants. The treatment of choice is the extensive excision of the lesion. Local recidivisms is very frequent, and sometimes they could have malignant degeneration. The authors present the case of a female patient, aged 13 years, who assisted the service of Surgery of the Hospital "Dr. Mario Muñoz Monroy", municipality of Colon, province of Matanzas with a tumor of hard consistence, of 8-10 cm diameter, in lower quadrants and retro alveolar region of the right mamma. The sonographic study informed the presence of a hypoechoic, oval image. The lesion was excised. The pathological and immunohistochemical study showed a breast adenomyoepithelioma. The patient did not have post-surgery complications. Currently she is followed in consultation after seven years of the surgery.

Mammary Epithelial-Myoepithelial Carcinoma: Report of a Case With HRAS and PIK3CA Mutations by Next-Generation Sequencing.

We present the case of a 73-year-old woman with an epithelial-myoepithelial carcinoma of the left breast (ie, malignant adenomyoepithelioma). In both the initial needle core biopsy and in the subsequently performed lumpectomy, the tumor consisted of nests of neoplastic epithelium and myoepithelium with cytologic atypia, increased mitoses, and infiltrative growth into the surrounding tissue. Mutational analysis showed oncogenic driver mutations in HRAS and PIK3CA. In this article, we describe an epithelial-myoepithelial carcinoma of the breast with focal metaplastic differentiation, an extremely rare entity, and report the results of targeted next-generation sequencing. Our patient has not shown any evidence of recurrent or metastatic disease at 29 months follow-up.

Epithelial-myoepithelial carcinoma of the minor salivary glands: a case report and review of the literature.

Epithelial-myoepithelial carcinoma (EMC) is a rare tumor, especially in the minor salivary glands. This case report describes a 40-year-old man who presented with an EMC on the palate. Histologically, the tumor was characterized by a biphasic structure consisting of duct-lining cuboidal cells in the inner layer and clear myoepithelial cells in the outer layer. The clear cells predominated, and the diagnosis was confirmed with immunohistochemical staining. The inner cuboidal epithelial cells were positive for cytokeratins, whereas the outer cells were positive for S-100 protein and smooth muscle actin. The patient was treated with a wide surgical excision, and no recurrence or metastasis was observed at a 10-year follow-up. A literature review found only 30 well-documented cases of EMC in the intraoral minor salivary glands.

[Adenomyoepithelioma with dominant myoepithelial contingent of the breast: A case report and literature review]. / Adénomyoépithéliome avec contingent myoépithélial prédominant du sein : à propos d'une observation et revue de la littérature.

We report a case of adenomyoepithelioma with predominant myoepithelial quota, a rare tumor of the breast due to proliferation of epithelial and myoepithelial cells in a patient of 71 years. This lesion, with difficult radiological and pathological diagnosis (biopsy) in the initial stage of the treatment, should benefit from surgical resection in healthy margin. In fact, this tumor is evolving in most cases on a benin mode, but cases of local or metastatic recurrences were reported. Histological and immunohistochemical arguments are important to reach the final diagnosis.

Breast Adenomyoepithelioma: Ultrasonography, Elastography, Digital Mammography, Contrast-Enhanced Digital Mammography, and Pathology Findings of This Rare Type of Breast Tumor.

Breast adenomyoepithelioma is considered as an uncommon breast tumor. It is evaluated as a variant of intraductal papilloma. The treatment of choice is local resection with free margins. It is the first case of breast adenomyoepithelioma reported with conventional ultrasonography, elastography (both free-hand and acoustic radiation force impulse imaging), digital mammography, contrast-enhanced digital mammography, and pathology findings. A 35-year-old white woman presented with a painless lump of the left breast. Treatment was local resection with free margins. There has been no recurrence for 6 months. Although breast adenomyoepithelioma is an uncommon breast tumor, its awareness is imperative because the differential diagnosis from other breast tumors is quite extensive.