Germline TP53 Testing in Breast Cancers: Why, When and How?

Germline TP53 variants represent a main genetic cause of breast cancers before 31 years of age. Development of cancer multi-gene panels has resulted in an exponential increase of germline TP53 testing in breast cancer patients. Interpretation of TP53 variants, which are mostly missense, is complex and requires excluding clonal haematopoiesis and circulating tumour DNA. In breast cancer patients harbouring germline disease-causing TP53 variants, radiotherapy contributing to the development of subsequent tumours should be, if possible, avoided and, within families, annual follow-up including whole-body MRI should be offered to carriers. We consider that, in breast cancer patients, germline TP53 testing should be performed before treatment and offered systematically only to patients with: (i) invasive breast carcinoma or ductal carcinoma in situ (DCIS) before 31; or (ii) bilateral or multifocal or HER2+ invasive breast carcinoma/DCIS or phyllode tumour before 36; or (iii) invasive breast carcinoma before 46 and another TP53 core tumour (breast cancer, soft-tissue sarcoma, osteosarcoma, central nervous system tumour, adrenocortical carcinoma); or (iv) invasive breast carcinoma before 46 and one first- or second-degree relative with a TP53 core tumour before 56. In contrast, women presenting with breast cancer after 46, without suggestive personal or familial history, should not be tested for TP53.

Recurrent phyllodes tumour of breast infiltrating the latissimus dorsi reconstruction flap

Phyllodes tumour is a rare breast tumour with potential of malignancy. Recurrence in phyllodes tumour may also be suggestive of malignant transformation. We report a case of 29-year-old woman with recurrent phyllodes tumour infiltrating the latissimus dorsi reconstruction flap. Re-excision of the tumour along with excision of latissimus dorsi flap was done. Histopathology confirmed malignant phyllode tumour. A significantly higher incidence of recurrence is seen in phyllodes tumour of large size, tumours with infiltrative borders, increased mitotic activity, malignant histology and positive margins. Surgeons should always take into consideration the risk factors for recurrence before planning reconstructive breast surgery in recurrent phyllodes tumour. A preoperative MRI imaging and incisional biopsy are essential in planning surgery for these patients.