Genetic and Clinical Characteristics of Phyllodes Tumors of the Breast

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Abstract

PURPOSE: Phyllodes tumors (PTs) of the breast are rare, accounting for less than 1% of all breast tumors. Among PTs, malignant PTs (MPTs) have malignant characteristics and distant metastases occur in about 20% to 30% of MPTs. However, there is no effective treatment for MPTs with distant metastasis, resulting in an abject prognosis. We performed targeted deep sequencing on PTs to identify the associations between genetic alterations and clinical prognosis. METHODS: We performed targeted deep sequencing to evaluate the genetic characteristics of PTs and analyzed the relationships between clinical and genetic characteristics. RESULTS: A total of 17 PTs were collected between 2001 and 2012. Histologic review was performed by pathologists. The samples included three benign PTs, one borderline PT, and 13 MPTs. The most frequently detected genetic alteration occurred in the TERT promoter region (70.6%), followed by MED12 (64.7%). EGFR amplification and TP53 alteration were detected in four MPTs without genetic alterations in MED12 and TERT promoter regions. Genetic alterations of RARA and ZNF703 were repeatedly found in PTs with local recurrence, and genetic alterations of SETD2, BRCA2, and TSC1 were detected in PTs with distant metastasis. Especially, MPT harboring PTEN and RB1 copy number deletion showed rapid disease progression. CONCLUSIONS: In this study, we provide genetic characterization and potential therapeutic target for this rare, potentially lethal disease. Further large-scale comprehensive genetic study and functional validation are warranted.

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SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data

Zhi-Jian Wei, Wei-wei Wang, Pingzhao Hu … (2011)

We develop a statistical tool SNVer for calling common and rare variants in analysis of pooled or individual next-generation sequencing (NGS) data. We formulate variant calling as a hypothesis testing problem and employ a binomial–binomial model to test the significance of observed allele frequency against sequencing error. SNVer reports one single overall P-value for evaluating the significance of a candidate locus being a variant based on which multiplicity control can be obtained. This is particularly desirable because tens of thousands loci are simultaneously examined in typical NGS experiments. Each user can choose the false-positive error rate threshold he or she considers appropriate, instead of just the dichotomous decisions of whether to ‘accept or reject the candidates’ provided by most existing methods. We use both simulated data and real data to demonstrate the superior performance of our program in comparison with existing methods. SNVer runs very fast and can complete testing 300 K loci within an hour. This excellent scalability makes it feasible for analysis of whole-exome sequencing data, or even whole-genome sequencing data using high performance computing cluster. SNVer is freely available at http://snver.sourceforge.net/.

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Phyllodes tumors of the breast: natural history, diagnosis, and treatment.

Frederick M Dirbas, Joseph Carlson, Alice E Guardino … (2007)

Phyllodes tumors of the breast are unusual fibroepithelial tumors that exhibit a wide range of clinical behavior. These tumors are categorized as benign, borderline, or malignant based on a combination of histologic features. The prognosis of phyllodes tumors is favorable, with local recurrence occurring in approximately 15% of patients overall and distant recurrence in approximately 5% to 10% overall. Wide excision with a greater than 1 cm margin is definitive primary therapy. Adjuvant systemic therapy is of no proven value. Patients with locally recurrent disease should undergo wide excision of the recurrence with or without subsequent radiotherapy.

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Surgical treatment of phyllodes tumors of the breast.

F Cusumano, Jose C. Clemente, R Saccozzi … (1989)

Eighty-one female patients with phyllodes tumors of the breast, surgically treated from 1974 to 1983, were studied. Their age ranged from 9 to 88 years. According to histology, the series was divided into three groups, of 28 (34.5%) benign tumors, 32 (39.5%) border-line tumors, and 21 (25.9%) malignant tumors. Because ten patients were lost to follow-up, only 71 women could be evaluated. All the patients had received surgical treatment: 51 women had been treated conservatively (11 enucleations, 40 wide resections), and 20 had undergone radical operations (13 underwent total and five underwent subcutaneous mastectomies, whereas one underwent modified and one underwent radical mastectomy). The mean follow-up, for the three groups, was 106 months for benign, 84 months for borderline, and 82 months for malignant tumors; in no case was radical surgery followed by local recurrence: of 51 women conservatively treated, 14 experienced local relapse, i.e., one of 24 women with benign, ten of 22 with borderline, and three of 8 with malignant lesions. Only two of 47 patients (4.2%) with borderline or malignant tumors developed distant metastasis and died from disease. No relationship between tumor size and risk of local recurrence could be demonstrated, and no difference could be identified between borderline and malignant lesions, in terms both of local and distant relapse. Local recurrences do not appear to affect survival: as a consequence, wide resection should be the primary treatment. Enucleation is to be proscribed. Total mastectomy has been indicated for very large tumors and for local recurrences of borderline and malignant lesions. Axillary dissection is not worthwhile.

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Author and article information

Contributors

Wonshik Han

Jeong Eon Lee

Journal

Journal ID (nlm-ta): Transl Oncol

Journal ID (iso-abbrev): Transl Oncol

Title: Translational Oncology

Publisher: Neoplasia Press

ISSN (Electronic): 1936-5233

Publication date PMC-release: 13 November 2017

Publication date Collection: February 2018

Publication date (Electronic): 13 November 2017

Volume: 11

Issue: 1

Pages: 18-23

Affiliations

[* ]Division of Hematology-Oncology, Department of Internal Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul,06351, Korea

[† ]Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Korea

[‡ ]Samsung Genome Institute, Samsung Medical Center, Seoul, 06351, Korea

[§ ]Department of Health Sciences and Technology, Samsung Advanced Institute for Health Sciences & Technology, Sungkyunkwan University, Seoul 06351, Korea

[¶ ]Department of Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Korea

[# ]Department of Neurosurgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, 06351, Korea

[** ]Biomedical Research Institute, Samsung Medical Center, Sungkyunkwan University, Seoul 06351, Korea

Author notes

[* ]Address all correspondence to: Jeong Eon Lee, MD, PhD, Division of Breast and Endocrine Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea. or Wonshik Han, MD, PhD, Department of Surgery and Cancer Research Institute, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea.Division of Breast and Endocrine Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea. or Wonshik Han, MD, PhD, Department of Surgery and Cancer Research Institute, Seoul National University College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 03080, Republic of Korea hanw@ 123456snu.ac.kr jeongeon.lee@ 123456samsung.com

[1]

These authors contributed equally to this work.

Article

Publisher ID: S1936-5233(17)30253-X

DOI: 10.1016/j.tranon.2017.10.002

PMC ID: 5684533

PubMed ID: 29145046

SO-VID: 834eeefd-e469-4e5f-a98a-0dea787a6151

License:

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

History

Date received : 17 July 2017

Date revision received : 12 October 2017

Date accepted : 23 October 2017

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Genetic and Clinical Characteristics of Phyllodes Tumors of the Breast

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Most cited references 9

SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data

Phyllodes tumors of the breast: natural history, diagnosis, and treatment.

Surgical treatment of phyllodes tumors of the breast.

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Cited by 11

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