Oral Metastasis of Metaplastic Breast Carcinoma in a Patient with Neurofibromatosis 1

Vivas, Ana Paula Molina; Bomfin, Luana Eschholz; Pinto, Clóvis Antônio Lopes; Alves, Fábio de Abreu

doi:10.1155/2014/719061

Cited by 14 publications

(15 citation statements)

References 29 publications

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“…4,34 Several previous studies have identified NF1 mutations in MBC, including germline mutations in patients with neurofibromatosis type 1. 4,10,[35][36][37][38][39][40] Our findings provide further evidence of a role for the NF1 gene in a subset of MBC.…”

Section: Semir Vranic Et Alsupporting

confidence: 58%

Molecular Profiling of the Metaplastic Spindle Cell Carcinoma of the Breast Reveals Potentially Targetable Biomarkers

Vranić

Stafford

Palazzo

et al. 2020

Clinical Breast Cancer

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Spindle cell carcinoma is a rare subtype of metaplastic breast cancer, with triple-negative phenotype. Twenty-three spindle cell carcinomas were comprehensively explored for biomarkers of immuno-oncology and targeted therapies using immunohistochemistry and DNA/RNA sequencing. Spindle cell carcinomas are characterized by targetable molecular alterations in the majority of cases, but, owing to the lack of uniform findings, individual patient profiling is necessary. Introduction: Spindle cell carcinoma is a rare subtype of metaplastic breast cancer, with triple-negative (TNBC: estrogen receptor-negative/progesterone receptor-negative/human epidermal growth factor receptor 2-negative) phenotype. It is associated with a marked resistance to conventional chemotherapy and has an overall poor outcome. Materials and Methods: Twenty-three pure spindle cell carcinomas of the breast (18 primary and 5 recurrent/metastatic) were comprehensively explored for biomarkers of immuno-oncology and targeted therapies using immunohistochemistry and DNA/RNA sequencing. Results: The majority (21/23) of spindle cell carcinomas were TNBC. Estrogen and androgen receptor expression above the therapeutic thresholds were detected in 2 cases each. Pathogenic gene mutations were identified in 21 of 23 cases, including PIK3CA, TP53, HRAS, NF1, and PTEN. One case with matched pre-and postchemotherapy samples exhibited a consistent mutational profile (PIK3CA and HRAS mutations) in both samples. Gene amplifications were present in 5 cases, including 1 case without detectable mutations. The spindle cell carcinomas cohort had consistently low total mutational burden (all below the 80th percentile for the entire TNBC cohort). All tumors were microsatellite stable. Programmed death-ligand 1 expression was observed on both tumor cells (in 7/21 cases), and in tumor-infiltrating immune cells (2/21 cases). Conclusions: Spindle cell carcinomas are characterized by targetable molecular alterations in the majority of cases, but owing to the lack of uniform findings, individual patient profiling is necessary. Detection of individual combinations of biomarkers should improve treatment options for this rare but aggressive disease.

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Section: Semir Vranic Et Alsupporting

confidence: 58%

Molecular Profiling of the Metaplastic Spindle Cell Carcinoma of the Breast Reveals Potentially Targetable Biomarkers

Vranić

Stafford

Palazzo

et al. 2020

Clinical Breast Cancer

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“…While the relationship between NF1 alterations and breast cancer is well known [41][42][43], and indeed with aggressive breast cancers [44], we have presented novel data to support a link between NF1 mutations and the metaplastic subtype, and showed weak heterogeneous expression of NF1 in mutant cases. These data are supported by a series of six recent case reports, each highlighting an ostensibly 'unique' case of metaplastic breast cancer in a neurofibromatosis patient (NF1; inherited mutant NF1 syndrome) [45][46][47][48][49][50]; four out of six cases presented with a squamous phenotype, with the remaining two being spindle. A single sporadic NF1 mutation in MBC was also reported in a squamous tumour, as part of a targeted sequencing assessment of 16 MBCs [51].…”

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confidence: 59%

Phenotypic and molecular dissection of metaplastic breast cancer and the prognostic implications

Reed

Kalaw

Nones

et al. 2018

The Journal of Pathology

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Metaplastic breast carcinoma (MBC) is relatively rare but accounts for a significant proportion of global breast cancer mortality. This group is extremely heterogeneous and by definition exhibits metaplastic change to squamous and/or mesenchymal elements, including spindle, squamous, chondroid, osseous, and rhabdomyoid features. Clinically, patients are more likely to present with large primary tumours (higher stage), distant metastases, and overall, have shorter 5‐year survival compared to invasive carcinomas of no special type. The current World Health Organisation (WHO) diagnostic classification for this cancer type is based purely on morphology – the biological basis and clinical relevance of its seven sub‐categories are currently unclear. By establishing the Asia‐Pacific MBC (AP‐MBC) Consortium, we amassed a large series of MBCs (n = 347) and analysed the mutation profile of a subset, expression of 14 breast cancer biomarkers, and clinicopathological correlates, contextualising our findings within the WHO guidelines. The most significant indicators of poor prognosis were large tumour size (T3; p = 0.004), loss of cytokeratin expression (lack of staining with pan‐cytokeratin AE1/3 antibody; p = 0.007), EGFR overexpression (p = 0.01), and for ‘mixed’ MBC, the presence of more than three distinct morphological entities (p = 0.007). Conversely, fewer morphological components and EGFR negativity were favourable indicators. Exome sequencing of 30 cases confirmed enrichment of TP53 and PTEN mutations, and intriguingly, concurrent mutations of TP53, PTEN, and PIK3CA. Mutations in neurofibromatosis‐1 (NF1) were also overrepresented [16.7% MBCs compared to ∼5% of breast cancers overall; enrichment p = 0.028; mutation significance p = 0.006 (OncodriveFM)], consistent with published case reports implicating germline NF1 mutations in MBC risk. Taken together, we propose a practically minor but clinically significant modification to the guidelines: all WHO_1 mixed‐type tumours should have the number of morphologies present recorded, as a mechanism for refining prognosis, and that EGFR and pan‐cytokeratin expression are important prognostic markers. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

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“…Only two cases have been reported so far in the English literature. [ 5 6 ] Our case is the third case report of metaplastic breast cancer in an NF1 patient. Since it is difficult to address the association of a particular subtype such as metaplastic breast cancer with NF1 from this single case, further studies on the molecular mechanisms and association of breast cancer, including metaplastic breast cancer, with neurofibromatosis are needed.…”

Section: Discussionmentioning

confidence: 86%

“…[ 4 ] So far, only two cases of metaplastic carcinoma in patients with NF1 have been described in the English literature. [ 5 6 ] We present a case of metaplastic breast cancer with keratinizing squamous histology in a patient with history of NF1. The imaging findings of metaplastic breast carcinoma and the association between metaplastic breast cancer and neurofibromatosis are reviewed and discussed.…”

Section: Introductionmentioning

confidence: 99%

Metaplastic Breast Cancer in a Patient with Neurofibromatosis

Chaudhry

Yang

Askeland

et al. 2015

Journal of Clinical Imaging Science

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Metaplastic breast cancer is a rare malignancy in the breast. Neurofibromatosis Type 1 is an autosomal dominant multisystem disorder associated with multiple neoplasms such as optic gliomas and peripheral nerve sheath tumors. The association of breast cancer with neurofibromatosis is very rare. We present a case of a metaplastic breast cancer in a patient with Type 1 neurofibromatosis. The patient presented with a palpable mass in her left breast with suspicious findings on mammogram and ultrasound. Ultrasound-guided percutaneous biopsy showed metaplastic breast carcinoma with metastasis to an axillary lymph node. This is the third case report in the English literature to show metaplastic breast carcinoma in a patient with Type 1 neurofibromatosis. In this report we review recent literature and discuss the association between these two entities.

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Oral Metastasis of Metaplastic Breast Carcinoma in a Patient with Neurofibromatosis 1

Cited by 14 publications

References 29 publications

Molecular Profiling of the Metaplastic Spindle Cell Carcinoma of the Breast Reveals Potentially Targetable Biomarkers

Molecular Profiling of the Metaplastic Spindle Cell Carcinoma of the Breast Reveals Potentially Targetable Biomarkers

Phenotypic and molecular dissection of metaplastic breast cancer and the prognostic implications

Metaplastic Breast Cancer in a Patient with Neurofibromatosis

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