Assessment of genetic referrals and outcomes for women with triple negative breast cancer in regional cancer centres in Australia.

BACKGROUND: Guidelines for referral to cancer genetics service for women diagnosed with triple negative breast cancer have changed over time. This study was conducted to assess the changing referral patterns and outcomes for women diagnosed with triple negative breast cancer across three regional cancer centres during the years 2014-2018. METHODS: Following ethical approval, a retrospective electronic medical record review was performed to identify those women diagnosed with triple negative breast cancer, and whether they were referred to a genetics service and if so, the outcome of that genetics assessment and/or genetic testing. RESULTS: There were 2441 women with newly diagnosed breast cancer seen at our cancer services during the years 2014-2018, of whom 237 women were diagnosed with triple negative breast cancer. Based on age of diagnosis criteria alone, 13% (31/237) of our cohort fulfilled criteria for genetic testing, with 81% (25/31) being referred to a cancer genetics service. Of this group 68% (21/31) were referred to genetics services within our regions and went on to have genetic testing with 10 pathogenic variants identified; 5x BRCA1, 4x BRCA2 and × 1 ATM:c.7271 T > G. CONCLUSIONS: Referral pathways for women diagnosed with TNBC to cancer genetics services are performing well across our cancer centres. We identified a group of women who did not meet eligibility criteria for referral at their time of diagnosis, but would now be eligible, as guidelines have changed. The use of cross-discipline retrospective data reviews is a useful tool to identify patients who could benefit from being re-contacted over time for an updated cancer genetics assessment.

Multifocal skin basal cell carcinomata 57 years after topical dry ice treatment.

We report a rare case of simultaneous multiple basal cell carcinomata occurring on the back of a patient who had received dry ice treatment to this area almost 6 decades previously. This is also one of the longest recorded disease-free intervals between skin trauma and basal cell carcinoma development. We discuss the aetiopathology of multiple skin cancers in our patient and the propensity for destructive skin events to predispose to malignancy.

No Increase in Acute or Late Radiation Toxicities in Patients With Ehlers-Danlos Syndrome Receiving Adjuvant Breast Radiation Therapy: A Report of Four Cases With Extended Follow-Up.

Ehlers-Danlos syndrome (EDS) consists of a heterogeneous group of congenital collagen formation disorders characterised by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility. Collagen vascular disorders have been implicated in increased incidence and severity of radiation toxicities; however, there are limited reports on the safety of radiation therapy with EDS. We identified all patients with EDS who received adjuvant conventional and hypofractionated breast radiation therapy at our institution and reviewed patient, treatment, and toxicity characteristics. Four patients were identified with a median follow-up of 13.2 months. Acute toxicities were limited to grade 1 dermatitis in all four patients. No late toxicities were seen. In this report, radiation therapy to the breast with conventional and hypofractionated regimens resulted in no significant acute or late toxicity.

Metaplastic carcinoma of the breast: Clinicopathological features and treatment outcomes with long-term follow up.

Metaplastic breast carcinoma is an uncommon subtype of invasive ductal carcinoma with a tendency towards poorer clinical outcomes. Following ethical approval, the current study reviewed the institutional records of ~2,500 women with breast cancer. A total of 14 cases of metaplastic breast cancer were reviewed for management and treatment outcomes. The results demonstrated that patients had median follow up of 30 months, a 5-year disease-free survival of 57.1% and 5-year overall survival of 57.1%. The majority of patients had at least T2 disease and all tumours were high grade. Additionally, most patients were triple negative and nodal metastases were uncommon. Metaplastic breast cancer is an aggressive variant of invasive breast cancer. Most patients can be treated with breast conservation and survival parameters tend to be worse than more common breast cancer subtypes.

Long-term outcomes of patients with conserved breast cancer treated with adjuvant hypofractionated prone breast intensity-modulated radiation therapy.

INTRODUCTION: New techniques for adjuvant radiation therapy after breast conservation include prone positioning, hypofractionation and intensity-modulated radiation therapy (IMRT). Long-term evaluations of this combination are lacking, and we report our own experience. METHODS: Patients with invasive breast cancer followed for a minimum 36 months post-IMRT were eligible. Dose used was 40 Gray in 15 fractions over 3 weeks to the whole breast via forward-planned prone, whole breast IMRT. A 10 Gy in 5 fraction supine boost was offered. RESULTS: Between January 2012 and January 2020, 2199 patients had breast conservation and adjuvant radiation: 489 received hypofractionated prone breast IMRT, with 155 eligible for our evaluation. Median follow-up was 52 months. Median age was 62 (range 36-80), 78.7% were T1, 20.6% were T2, and 12.3% were node-positive. Grade was 1 in 26.5%, 2 in 43.9% and 3 in 29.7%; 87.1% were oestrogen receptor positive, 3.2% were HER2 positive, and 11.0% were triple negative. 58.6% received a boost, 74.8% endocrine therapy and 32.3% chemotherapy. No patient developed local recurrence. One regional recurrence was successfully salvaged. Six patients (3.9%) developed metastases, and 1.9% died. Five-year actuarial local recurrence-free, regional recurrence-free and breast cancer-specific survival rates were 100.0%, 98.2% and 94.8%. Late grade 1 and 2 breast pain occurred in 20.0% and 1.3% of patients. Only 11.0% had new pain compared to pre-radiation. No patient developed radiation-induced pneumonitis, pulmonary fibrosis, rib fracture or cardiac toxicity. All patients scored cosmesis as 'good' or better. CONCLUSION: Adjuvant hypofractionated prone breast IMRT has excellent locoregional control and minimal toxicity.

Plasmablastic lymphoma masquerading solitary plasmacytoma in an immunocompetent patient.

We report a case of a middle-aged woman who initially presented with a painful solitary destructive lesion at fifth lumbar vertebra. The initial diagnosis of plasma cell neoplasm was made based on limited histological information obtained from fragmented tissue sample. Clinicopathological findings were consistent with a solitary plasmacytoma, and she was treated with definitive radiotherapy. A month after completing radiotherapy, she was found to have multiple liver lesions. Subsequent liver biopsy confirmed plasmablastic lymphoma (PBL). She was treated with multiple lines of chemo/immunotherapy regimens with limited or no response. She died of progression of liver lesions causing hepatic failure 16 months post diagnosis. Because of its rarity and heterogeneous presentations, PBL could easily be overlooked clinically and pathologically in immunocompetent patients. Diagnosis of PBL should be considered when there is coexpression of myeloma and lymphoma immune markers.

Improved outcomes with intensity modulated radiation therapy combined with temozolomide for newly diagnosed glioblastoma multiforme.

Purpose. Glioblastoma multiforme (GBM) is optimally treated by maximal debulking followed by combined chemoradiation. Intensity modulated radiation therapy (IMRT) is gaining widespread acceptance in other tumour sites, although evidence to support its use over three-dimensional conformal radiation therapy (3DCRT) in the treatment of gliomas is currently lacking. We examined the survival outcomes for patients with GBM treated with IMRT and Temozolomide. Methods and Materials. In all, 31 patients with GBM were treated with IMRT and 23 of these received chemoradiation with Temozolomide. We correlated survival outcomes with patient functional status, extent of surgery, radiation dose, and use of chemotherapy. Results. Median survival for all patients was 11.3 months, with a median survival of 7.2 months for patients receiving 40.05 Gray (Gy) and a median survival of 17.4 months for patients receiving 60 Gy. Conclusions. We report one of the few series of IMRT in patients with GBM. In our group, median survival for those receiving 60 Gy with Temozolomide compared favourably to the combined therapy arm of the largest randomised trial of chemoradiation versus radiation to date (17.4 months versus 14.6 months). We propose that IMRT should be considered as an alternative to 3DCRT for patients with GBM.