Adenoid cystic carcinoma of the breast with cerebral metastisation: a clinical novelty

Silva, Inês; Tomé, Vera; Oliveira, Joao

doi:10.1136/bcr.08.2011.4692

Cited by 9 publications

(6 citation statements)

References 8 publications

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“…High-grade transformation can occur and is associated with aggressive clinical behavior and poor response to systemic therapies, 19,20 however guidelines for the management of this particular subset of patients have yet to be fully implemented.…”

Section: Discussionmentioning

confidence: 99%

Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer

et al. 2016

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Adenoid cystic carcinoma of the breast is a rare histologic type of triple-negative breast cancer with an indolent clinical behavior, often driven by the MYB-NFIB fusion gene. Here we sought to define the repertoire of somatic genetic alterations in two adenoid cystic carcinomas associated with high-grade triple-negative breast cancer. The different components of each case were subjected to copy number profiling and massively parallel sequencing targeting all exons and selected regulatory and intronic regions of 488 genes. Reverse transcription PCR and fluorescence in situ hybridization were employed to investigate the presence of the MYB-NFIB translocation. The MYB-NFIB fusion gene was detected in both adenoid cystic carcinomas and their associated high-grade triple-negative breast cancer components. Whilst the distinct components of both cases displayed similar patterns of gene copy number alterations, massively parallel sequencing analysis revealed intra-tumor genetic heterogeneity. In case 1, progression from the trabecular adenoid cystic carcinoma to the high-grade triple-negative breast cancer was found to involve clonal shifts with enrichment of mutations affecting EP300, NOTCH1, ERBB2 and FGFR1 in the high-grade triple-negative breast cancer. In case 2, a clonal KMT2C mutation was present in the cribriform adenoid cystic carcinoma, solid adenoid cystic carcinoma and high-grade triple-negative breast cancer components, whereas a mutation affecting MYB was present only in the solid and high-grade triple-negative breast cancer areas and additional three mutations targeting STAG2, KDM6A and CDK12 were restricted to the high-grade triple-negative breast cancer. In conclusion, adenoid cystic carcinomas of the breast with high-grade transformation are underpinned by MYB-NFIB fusion gene, and, akin to other forms of cancer, may be constituted by a mosaic of cancer cell clones at diagnosis. The progression from adenoid cystic carcinoma to high-grade triple-negative breast cancer of no special type may involve the selection of neoplastic clones and/ or the acquisition of additional genetic alterations.

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Section: Discussionmentioning

confidence: 99%

Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer

et al. 2016

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“…The myoepithelial/abluminal cells express p63, smooth muscle actin and basal CKs: CK5/6, CK14, CK17. CAdCC generally displays a triple-negative immunophenotype, although ER-positive cases also occur ( Supplementary Table S2 ) [ 46 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 ]. CAdCC frequently expresses EGFR, an immunohistochemical marker of the “basal-like” phenotype, without gene amplification [ 69 ].…”

Section: Classic Adenoid Cystic Carcinoma (Cadcc)mentioning

confidence: 99%

“…A review of the published literature identified database studies and small case series in addition to single case reports concentrating on tumours associated with an unfavourable outcome ( Supplementary Table S2 ) [ 46 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 ]. The reported series often included a mixture of AdCC tumours with CAdCC rarely studied in isolation.…”

Section: Classic Adenoid Cystic Carcinoma (Cadcc)mentioning

confidence: 99%

Triple-Negative Breast Cancer Histological Subtypes with a Favourable Prognosis

Cserni

Quinn

Foschini

et al. 2021

Cancers

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Triple-negative breast cancers (TNBC), as a group of tumours, have a worse prognosis than stage-matched non-TNBC and lack the benefits of routinely available targeted therapy. However, TNBC is a heterogeneous group of neoplasms, which includes some special type carcinomas with a relatively indolent course. This review on behalf of the European Working Group for Breast Screening Pathology reviews the literature on the special histological types of BC that are reported to have a triple negative phenotype and indolent behaviour. These include adenoid cystic carcinoma of classical type, low-grade adenosquamous carcinoma, fibromatosis-like metaplastic carcinoma, low-grade mucoepidermoid carcinoma, secretory carcinoma, acinic cell carcinoma, and tall cell carcinoma with reversed polarity. The pathological and known molecular features as well as clinical data including treatment and prognosis of these special TNBC subtypes are summarised and it is concluded that many patients with these rare TNBC pure subtypes are unlikely to benefit from systemic chemotherapy. A consensus statement of the working group relating to the multidisciplinary approach and treatment of these rare tumour types concludes the review.

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“…Cerebral metastasis from Adenoid Cyst Carcinoma (ACC) remains very rare [1]. Authors reported Bartholin's gland, Brest, Lung, parotid adenoid cystic carcinoma (ACC) with metastasis to the brain [2][3][4][5]. The multiple metastisation patterns-nodal are correlated with poor prognosis [2].…”

Section: Introductionmentioning

confidence: 99%

“…Authors reported Bartholin's gland, Brest, Lung, parotid adenoid cystic carcinoma (ACC) with metastasis to the brain [2][3][4][5]. The multiple metastisation patterns-nodal are correlated with poor prognosis [2]. However, the diagnosis may encounter some challenges when a primitive lesion was not known.…”

Section: Introductionmentioning

confidence: 99%

Brain metastasis of thyroid adenoid cyst carcinoma: Unusual case report

Hemama¹,

Bankole²

2022

J Clin Images Med Case Rep

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Background: Cerebral metastasis from Adenoid cyst Carcinoma (ACC) remains extremely rare. Case description: 62-year-old female, with a history of thyroidectomy for goiter surgery associated with left cervical lymphadenopathy five years ago. She presented a decrease in visual acuity at 6/10 in the right eye. Brain MRI revealed an intra-conical right orbital lesion process associated with a right frontal cerebral lesion process, three other osteolytic lesions of the cranial vault, lung metastases, and hepatic metastasis. Thyroid ACC with Antibody Anti CD117+ after stereotaxic biopsy of brain lesion was retained by the pathologist. She underwent radiotherapy and chemotherapy management. At 6 months follow-up, the cerebral and liver localisations didn’t progress, unfortunately, the lung mass was progressed from 4 cm to 6 cm. Conclusion: Multiple brain metastasis from ACC of the thyroid is extremely rare. Diagnosis and Management could present some challenges for surgeons and oncologists Keywords: Adenoid cyst carcinoma; Thyroid; Brain metastasis; CD117; Stereotaxic biopsy.

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Adenoid cystic carcinoma of the breast with cerebral metastisation: a clinical novelty

Cited by 9 publications

References 8 publications

Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer

Genetic events in the progression of adenoid cystic carcinoma of the breast to high-grade triple-negative breast cancer

Triple-Negative Breast Cancer Histological Subtypes with a Favourable Prognosis

Brain metastasis of thyroid adenoid cyst carcinoma: Unusual case report

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