Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective

Zhang, Xinxin; Wang, Tao; Wang, Wei; Ding, Yibing; Zhou, Lixing; Chen, Qiuyan; Gao, Xiang; Wu, Yongzheng; Mei, Yuna; Jin, Yu; Gao, Qian; Yi, Long

doi:10.1016/j.gene.2015.08.069

Cited by 3 publications

(7 citation statements)

References 20 publications

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“…In this study, the occurrence of these malignancies does not correlate with biologic behavior of DNA ploidy of thymoma (14). A recent study, based on a family with five ovarian/breast cancer patients and two thymoma patients, did not support the notion, that the concurrent appearance of breast cancer and thymoma, represent a familial cancer syndrome, caused by the same genetic disorder (15).…”

Section: Thymoma and Breast Cancermentioning

confidence: 92%

Coincidence of thymoma and breast cancer and in a 56-year-old female patient

Athanasiou¹,

Michalopoulou-Manoloutsiou²,

Bobos³

et al. 2016

Ann. Transl. Med.

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We present a case of a 56-year-old female, with a familial history of breast, lung and brain cancer, which revealed a breast tumor, located in the upper outer quadrant of the left breast. During the routinely staging examinations, a 15 cm intrathoracic tumor was found in the upper left mediastinum, penetrating the pericardium and a smaller tumor, in the left side of parietal pleura. Core biopsies from both lesions, revealed a lobular carcinoma of the breast classic type, grade II (e-cadherin-, ER+, PR+, Her-2−, Ki-67 10%) and a B3 thymoma (CK19+, CD5+) penetrating the pericardium and the left lung. A synchronous removal of both tumors was scheduled, including median sternotomy and left intrapericardial pneumonectomy, followed by a modified radical left mastectomy and a sentinel lymph node biopsy. The postoperative course was uneventful. This case advocates that thymoma patients appear to have a predisposition towards developing additional neoplasms, as breast carcinoma. Clinicians should be aware of the increased incidence of extrathymic cancers, occurring in thymoma patients.

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Section: Thymoma and Breast Cancermentioning

confidence: 92%

Coincidence of thymoma and breast cancer and in a 56-year-old female patient

Athanasiou¹,

Michalopoulou-Manoloutsiou²,

Bobos³

et al. 2016

Ann. Transl. Med.

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“…It seems that the familial occurrence is poorly recorded and thus its prevalence is underestimated [1]. The genetic factors that may contribute to this familial clustering are not well known [14,17]. We report two families whose members presented different forms of thymic pathology.…”

Section: Introductionmentioning

confidence: 90%

“…The post mortem examination revealed a thymoma. The prevalence of familial thymoma is estimated between 1 and 4 per million and its cause is also unknown [13][14][15][16][17]. Familial thymomas can be associated with other malignancies and autoimmune diseases [14,17].…”

Section: Familymentioning

confidence: 99%

“…The familial occurrence of thymic pathology, even though rare, is widely reported in the literature and mainly concerns cases of familial autoimmune myasthenia gravis (MG) [1][2][3][4][5][6][7][8][9]. Other less frequent cases of familial occurrence of thymoma, thymic carcinoid and thymic hyperplasia have been described, as well [10][11][12][13][14][15][16][17][18][19]. It seems that the familial occurrence is poorly recorded and thus its prevalence is underestimated [1].…”

Section: Introductionmentioning

confidence: 99%

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Occurrence of thymic pathology in two families. Is familial screening justified?

Moraitis

Agrafiotis

Kapranou

et al. 2018

Monaldi Arch Chest Dis

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The familial occurrence of thymic pathology, even though rare, is widely reported in the literature and mainly concerns cases of familial autoimmune myasthenia gravis. Other less frequent cases of familial occurrence of thymoma, thymic carcinoid and thymic hyperplasia have been described. It seems that the familial occurrence is poorly recorded and thus its prevalence is underestimated. We report two families whose members presented different forms of thymic pathology and discuss the necessity of screening programs in family members of patients presenting a thymic lesion.

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“…A similar report described a family with frequent thymomas, potentially attributed to a germline translocation of the BRCA2 ‐associated DNA repair protein RAD51B . Another family was reported to have high rates of BRCA‐linked breast/ovarian cancers and thymomas, although there was insufficient evidence to suggest a familial cancer syndrome caused by a single unifying mutation . Of note, one series of 72 patients with thymoma or thymic carcinoma identified 1 patient with an ataxia‐telangiectasia mutated ( ATM ) gene mutation, which can affect DNA repair mechanisms similar to BRCA mutations .…”

Section: Functional and Clinical Significance Of The Specific Mutatiomentioning

confidence: 99%

Metastatic Thymoma Harboring a Deleterious BRCA2 Mutation Derives Durable Clinical Benefit from Olaparib

et al. 2019

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Thymomas comprise a group of rare epithelial neoplasms of the anterior mediastinum. Whereas localized disease carries a favorable prognosis, the majority of patients with metastatic thymomas experience progression or recurrence over a 10-year period. Although targeted therapies have become standard of care in many malignancies, no clinically actionable mutations have consistently been identified in metastatic thymomas.Here, we describe a patient with an aggressive thymoma complicated by extensive pleural metastases. Over a 16-year period, she progressed on multiple treatment regimens. To identify additional treatment options, tissue from a pleural metastasis was sent for next-generation sequencing, revealing mutations in BRCA2, tyrosine kinase 2, and SET domain containing 2. Based on supporting evidence for poly (ADP-ribose) polymerase (PARP) inhibition in other BRCA-mutated tumors, the patient was started on the PARP inhibitor olaparib. She derived significant clinical benefit from treatment, with imaging showing overall stabilization of her disease. Here, we review the genotyping results of her tumor and discuss the functional and clinical significance of the mutations in her cancer as well as implications for managing patients with advanced BRCA-mutant thymomas. The Oncologist 2020;25:301-305 KEY POINTS• Targeted therapy has yet to enter the standard clinical management of metastatic thymomas.• Patients with BRCA2-mutant thymomas may benefit from poly (ADP-ribose) polymerase inhibition.

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Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective

Cited by 3 publications

References 20 publications

Coincidence of thymoma and breast cancer and in a 56-year-old female patient

Coincidence of thymoma and breast cancer and in a 56-year-old female patient

Occurrence of thymic pathology in two families. Is familial screening justified?

Metastatic Thymoma Harboring a Deleterious BRCA2 Mutation Derives Durable Clinical Benefit from Olaparib

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