-
Medicine Oct 2019Male adenomyoepithelioma of the breast with malignant features is a rare tumor with only one previous case reported in the literature over 25 years ago.
RATIONALE
Male adenomyoepithelioma of the breast with malignant features is a rare tumor with only one previous case reported in the literature over 25 years ago.
PATIENT CONCERNS
We report the case of a 63-year-old man admitted to our Oncology Institute with a painless tumor mass of 6 cm in the left breast with no additional regional lymph nodes. Ultrasound revealed a complex cystic tumor mass of 60 mm in the left breast, with both anechoic (cystic) and echogenic (solid) components, with ill-defined margin.
DIAGNOSES
Extemporaneous assessment showed a solid (invasive) papillary intracystic carcinoma. Definitive pathology examination revealed the presence of a breast malignant adenomyoepithelioma.
INTERVENTIONS
Based on the extemporaneous assessment, wide tumor excision was performed. The tumor board decided to continue treatment with adjuvant anthracycline-based chemotherapy.
OUTCOMES
After 6 years of follow-up, the patient is cancer-free. No chronic side effects were noted.
LESSONS
Because this pathology is extremely rare, no guidelines are available for its therapeutic approach. All decisions regarding patient management should be made by a multi-disciplinary team and can only be based on clinical experience and the few cases reported in female patients.
Topics: Adenomyoepithelioma; Anthracyclines; Antineoplastic Agents; Breast Neoplasms, Male; Combined Modality Therapy; Humans; Male; Mastectomy, Segmental; Middle Aged
PubMed: 31651866
DOI: 10.1097/MD.0000000000017587 -
The American Journal of Surgical... Jan 2020Pneumocytic adenomyoepithelioma (PAM) was first described in 2007 and was included in the 2015 World Health Organization Classification of lung tumors as a variant of... (Review)
Review
Pneumocytic adenomyoepithelioma (PAM) was first described in 2007 and was included in the 2015 World Health Organization Classification of lung tumors as a variant of epithelial-myoepithelial tumor. This rare pulmonary neoplasm was reported to show both myoepithelial and duct-like components, with the latter exhibiting pneumocytic differentiation with TTF-1 expression. We present an index case and 6 additional retrospectively identified cases of pulmonary tumors with prototypical features of PAM. However, with additional clinicoradiologic, histologic, immunohistochemical and cytogenetic data, we were able to reclassify them as myoepithelial neoplasms-both primary and metastatic-with entrapped exuberantly hyperplastic alveolar structures lined by TTF-1 pneumocytes. We reviewed the available literature related to PAM and myoepithelial tumors. Our cases suggest that the entity referred to as PAM represents interstitial growth of myoepithelial neoplasms enticing marked proliferation of entrapped pneumocytes rather than a distinct biphasic neoplasm with pneumocytic differentiation.
Topics: Adenomyoepithelioma; Aged; Aged, 80 and over; Alveolar Epithelial Cells; Female; Humans; Lung Neoplasms; Male; Middle Aged; Myoepithelioma; Retrospective Studies
PubMed: 31567188
DOI: 10.1097/PAS.0000000000001376 -
International Journal of Surgery Case... 2019Adenomyoepithelioma of the breast is a rarely reported and mostly benign disease that seldom undergoes malignant transformation.
INTRODUCTION
Adenomyoepithelioma of the breast is a rarely reported and mostly benign disease that seldom undergoes malignant transformation.
PRESENTATION OF THE CASE
Here, we present a case of malignant adenomyoepithelioma of the breast in a patient who initially presented with pain following an excision procedure at local clinic. The condition was finally diagnosed after a third surgical procedure, pathologic analysis with hematoxylin and eosin staining, and immunohistochemistry analysis to detect smooth muscle actin and S100 expression.
CONCLUSION
The patient developed no complications or recurrences after a total mastectomy with sentinel node dissection.
PubMed: 31128547
DOI: 10.1016/j.ijscr.2019.04.045 -
Clinical Case Reports May 2019Adenomyoepithelioma with myoepithelial carcinoma of the breast is rare and diagnosed with histology and immunohistochemistry. We present a case of malignant...
Adenomyoepithelioma with myoepithelial carcinoma of the breast is rare and diagnosed with histology and immunohistochemistry. We present a case of malignant transformation over 10 years, with ultrasonographic findings, highlighting the importance of an early excisional biopsy. Conservative surgery and radiation therapy were performed. There was no recurrence for 2 years.
PubMed: 31110717
DOI: 10.1002/ccr3.2100 -
NPJ Breast Cancer 2019Breast adenomyoepitheliomas (AMEs) are rare epithelial-myoepithelial neoplasms that may occasionally produce myxochondroid matrix, akin to pleomorphic adenomas (PAs)....
Breast adenomyoepitheliomas (AMEs) are rare epithelial-myoepithelial neoplasms that may occasionally produce myxochondroid matrix, akin to pleomorphic adenomas (PAs). Regardless of their anatomic location, PAs often harbor rearrangements involving or . We have recently shown that the repertoire of somatic genetic alterations of AMEs varies according to their estrogen receptor (ER) status; whilst the majority of ER-positive AMEs display mutually exclusive or hotspot mutations, up to 60% of ER-negative AMEs harbor concurrent Q61 hotspot mutations and mutations affecting either or . Here, we hypothesized that a subset of AMEs lacking these somatic genetic alterations could be underpinned by oncogenic fusion genes, in particular those involving or . Therefore, we subjected 13 AMEs to RNA-sequencing for fusion discovery ( = 5) and/or fluorescence in situ hybridization (FISH) analysis for and rearrangements ( = 13). RNA-sequencing revealed an - fusion gene in an ER-positive AME lacking and somatic mutations. This fusion gene, which has been previously described in salivary gland PAs, results in a chimeric transcript composed of exons 1-5 of and exons 3-10 of . No additional in-frame fusion genes or or rearrangements were identified in the remaining AMEs analyzed. Our results demonstrate that a subset of AMEs lacking mutations affecting and PI3K pathway-related genes may harbor - fusion genes, suggesting that a subset of breast AMEs may be genetically related to PAs or that a subset of AMEs may originate in the context of a PA.
PubMed: 30675516
DOI: 10.1038/s41523-018-0101-7 -
Respiratory Medicine Case Reports 2018Pneumocytic adenomyoepithelioma is an extremely rare and poorly understood pulmonary neoplasm, so experience with this tumor is limited. Since the initial case series...
Pneumocytic adenomyoepithelioma is an extremely rare and poorly understood pulmonary neoplasm, so experience with this tumor is limited. Since the initial case series where the lesion was first proposed as a distinctive entity, only one additional report has been described. We present a case of pneumocytic adenomyoepithelioma with clinical and radiologic data that provide the first long-term evidence of the benignity of this extremely rare pulmonary neoplasm. We also review the available literature surrounding pneumocytic adenomyoepitheliomas. Our case provides important new data on the behavior of this lesion, as imaging studies showed essentially stable or very slowly progressive disease over the course of approximately 9 years. Collectively, this rare and poorly described lesion appears to behave in an indolent or benign fashion, a notion that our case further supports.
PubMed: 29977755
DOI: 10.1016/j.rmcr.2018.03.015 -
Nature Communications May 2018Adenomyoepithelioma of the breast is a rare tumor characterized by epithelial-myoepithelial differentiation, whose genetic underpinning is largely unknown. Here we show...
Adenomyoepithelioma of the breast is a rare tumor characterized by epithelial-myoepithelial differentiation, whose genetic underpinning is largely unknown. Here we show through whole-exome and targeted massively parallel sequencing analysis that whilst estrogen receptor (ER)-positive adenomyoepitheliomas display PIK3CA or AKT1 activating mutations, ER-negative adenomyoepitheliomas harbor highly recurrent codon Q61 HRAS hotspot mutations, which co-occur with PIK3CA or PIK3R1 mutations. In two- and three-dimensional cell culture models, forced expression of HRAS in non-malignant ER-negative breast epithelial cells with or without a PIK3CA somatic knock-in results in transformation and the acquisition of the cardinal features of adenomyoepitheliomas, including the expression of myoepithelial markers, a reduction in E-cadherin expression, and an increase in AKT signaling. Our results demonstrate that adenomyoepitheliomas are genetically heterogeneous, and qualify mutations in HRAS, a gene whose mutations are vanishingly rare in common-type breast cancers, as likely drivers of ER-negative adenomyoepitheliomas.
Topics: Adenomyoepithelioma; Biomarkers, Tumor; Breast; Breast Neoplasms; Cadherins; Cell Differentiation; Cell Line, Tumor; Class I Phosphatidylinositol 3-Kinases; Disease Progression; Enzyme Activation; Epithelial Cells; Female; Genes, ras; Humans; Mutation; Proto-Oncogene Proteins c-akt; Receptors, Estrogen; Reproducibility of Results; Signal Transduction; Exome Sequencing
PubMed: 29739933
DOI: 10.1038/s41467-018-04128-5 -
CytoJournal 2017The authors describe the cytomorphologic features of two cases of tubular variant of adenomyoepithelioma of the breast that were first examined by fine-needle aspiration...
The authors describe the cytomorphologic features of two cases of tubular variant of adenomyoepithelioma of the breast that were first examined by fine-needle aspiration cytology (FNAC) and diagnosed as fibroadenoma. On retrospective review of the cytology, subtle features such as less cohesive epithelial clusters, intimate association of clusters of stromal cells with epithelial elements, a dominant population of plump-epithelioid naked (myoepithelial) cells, and occasional cells with intranuclear inclusions, were noted. Thus, these lesions can be diagnostically challenging and cannot be conclusively differentiated from either fibroadenoma or tubular adenoma cytologically and the pathologist may only be able to give a differential on FNAC. Recognition of the biphasic nature and the characteristic overall architecture of the tumors in combination with immunohistochemistry are essential to establish the correct diagnosis on biopsy. Although most tumors have a benign clinical course, rare instances of local recurrence, malignant transformation, and distant metastases have been reported. A complete excision with adequate margins would lower the chance of local recurrence.
PubMed: 29333189
DOI: 10.4103/cytojournal.cytojournal_26_17 -
World Journal of Oncology Aug 2017This study set out to investigate the clinical diagnosis and treatment strategies for malignant breast adenomyoepithelioma (AME), thus increasing the clinical knowledge...
This study set out to investigate the clinical diagnosis and treatment strategies for malignant breast adenomyoepithelioma (AME), thus increasing the clinical knowledge on such disease. Two patients with malignant breast AME in Beijing Friendship Hospital were selected for study. Here we report the diagnosis and treatment processes in terms of the failure experience and lessons and relate our findings to those in the literature. Malignant breast AME is inclined to affect the areola area. It is recommended to conduct simple mastectomy combined with sentinel lymph node dissection due to the low sensitivity of the preoperative imaging diagnosis and difficulty in the pathological diagnosis. Malignant breast AME features strong invasiveness and vulnerability to recurrence and metastasis. Therefore, the operative schemes and clinical treatment strategies should be formulated based on the comprehensive analyses of the physical signs, imageological examinations and pathology.
PubMed: 29147448
DOI: 10.14740/wjon1055e -
Cureus Jun 2017We describe a case of aggressive adenomyoepithelioma (AME) of the breast with a lymph node metastasis. A 63-year-old female presented with a fluctuating breast mass and...
We describe a case of aggressive adenomyoepithelioma (AME) of the breast with a lymph node metastasis. A 63-year-old female presented with a fluctuating breast mass and clinically palpable lymph nodes. The patient underwent excisional biopsy followed by mastectomy with lymph node dissection and adjuvant radiotherapy (RT). Clinical behavior of both benign and malignant AME is described with the review of the literature and treatment recommendations.
PubMed: 28775920
DOI: 10.7759/cureus.1380