An anastomosing haemangioma within a lymph node: A rare vascular tumour in a novel location

Anastomosing haemangioma is a rare, benign vascular tumour with a predilection for genitourinary and paravertebral sites, but which has been described in a number of other locations. We report a case of an anastomosing haemangioma in a lymph node presenting as a painful right axillary mass. Microscopic examination revealed a characteristic non-lobular proliferation of anastomosing, thin-walled capillaries, with focal endothelial hob-nailing, and the absence of significant cytologic atypia or mitotic activity

The Ability of BRAF Therapy to Convert an Iodine Negative to Iodine Positive Thyroid Cancer Patient

Background/Aims: A 77 year old man presented with a cerebral metastasis from papillary carcinoma of the thyroid. Investigations revealed a left thyroid lobe primary with extensive locoregional lymph involvement and pulmonary metastases. He was treated with a total thyroidectomy, central and left lateral lymph node resection and a 5.8GBq dose of I-131. Unfortunately, the post treatment scan revealed uptake in the thyroid bed but no uptake in the pulmonary metastases. Methods:The tumour was found to be BRAF positive. The patient was commenced on 2 BRAF inhibitors - cobimetinib and vemurafenib, for treatment of his metastatic disease.It was also hoped that these agents may result in redifferentiation of his tumour. Results: After 3 months of BRAF inhibitor therapy, an I-123 scan confirmed uptake in right cervical lymph nodes and multiple pulmonarymetastases, a further therapeutic dose of 5.8GBq of I-131was then administered. Following this second treatment, the post therapy scan confirmed excellent uptake in right cervical lymph nodes and pulmonary metastases. This result mimics the findings reported previously whenthe MEK inhibitor, selumetinib, was shown to be able to reverse radioiodine refractory disease.[1] Conclusion: This case illustrates the ability of BRAF inhibitor therapy to convert radioiodine refractory disease into iodine positive disease, enabling I-131 therapy to be administered more effectively in a patient with a BRAF positive tumour

Subcutaneous spreading squamous cell carcinoma in a patient with epidermolysis bullosa

Epidermolysis Bullosa (EB) is a complex group of genetic disorders characterised by mechanical fragility in the basement membrane zone. Affected individuals experience significant morbidity and mortality, most commonly from cutaneous malignancies. In fact, 90.1% of EB patients develop Squamous Cell Carcinoma (SCC) before the age of 55, 80% of whom die within 5 years of diagnosis. Furthermore, the management of cutaneous malignancies in EB is fraught with challenges given the atypical presentations of malignancies and the co-existence of systemic co-morbidities. To illustrate the common pearls and pitfalls of managing EB in the perioperative setting, we present a case of SCC of the left forefoot which spread through a natural plane of weakness in the dermal-epidermal junction as a complication of the congenital weakness in the area resulting from EB

Correlating Ki67 and other prognostic markers with oncotype DX recurrence score in early breast cancer

Background: Breast cancer is a common problem. Decisions regarding adjuvant chemotherapy are complex. Ki67 is increasingly used, in conjunction with conventional prognostic markers, to help decide the use of adjuvant chemotherapy for early breast cancer. Ki67 may be an economical alternative to Oncotype DX recurrence score (RS), which is a validated prognostic marker for disease recurrence and predictive marker for benefit from chemotherapy. Methods: We reviewed all cases of luminal type early breast cancer (T1–2, N0–1mi, M0, ER positive, HER2 negative) referred for Oncotype DX testing (n = 58) at an Australian tertiary private hospital from 14 December 2006 to 31 December 2013. RS was correlated with Ki67, along with other conventional prognostic markers including tumour size, grade, mitotic rate and lymphovascular invasion. Spearman's rank order correlation coefficient and Pearson product-moment correlation coefficient (r) were used for ordinal and continuous variables respectively. Results: The median Ki67 was 15% (range 2–50), the median RS was 16 (range 3–65). There was no positive correlation between Ki67 and RS (r = 0.012, P = 0.929). No single conventional prognostic marker was shown to significantly correlate with RS, including tumour size (r = −0.021, P = 0.878), grade (r = 0.103, P = 0.442), mitotic rate (r = −0.072, P = 0.692) and lymphovascular invasion (r = −0.124, P = 0.385). Conclusions: Ki67 and conventional prognostic markers do not correlate with Oncotype DX recurrence score. In the setting where conventional prognostic markers do not show a clear indication for or against adjuvant chemotherapy, Ki67 is not a substitute for Oncotype DX testing.1 page(s

How should we discuss genetic testing with women newly diagnosed with breast cancer? Design and implementation of a randomized controlled trial of two models of delivering education about treatment-focused genetic testing to younger women newly diagnosed with breast cancer

Background: Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women's treatment choices - treatment-focused genetic testing 'TFGT' - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women. Yet the optimal way to deliver information about TFGT to younger women newly diagnosed with breast cancer is not known, particularly for those who were not suspected of having a hereditary breast cancer syndrome prior to their cancer diagnosis. Also, little is known about the behavioral and psychosocial impact or cost effectiveness of educating patients about TFGT. This trial aims to examine the impact and efficiency of two models of educating younger women newly diagnosed with breast cancer about genetic testing in order to provide evidence for a safe and effective future clinical pathway for this service.Design/methods: In this non-inferiority randomized controlled trial, 140 women newly diagnosed with breast cancer (aged less than 50 years) are being recruited from nine cancer centers in Australia. Eligible women with either a significant family history of breast and/or ovarian cancer or with other high risk features suggestive of a mutation detection rate of > 10% are invited by their surgeon prior to mastectomy or radiotherapy. After completing the first questionnaire, participants are randomized to receive either: (a) an educational pamphlet about genetic testing (intervention) or (b) a genetic counseling appointment at a family cancer center (standard care). Each participant is offered genetic testing for germline BRCA mutations. Decision-related and psychosocial outcomes are assessed over 12 months and include decisional conflict (primary outcome);uptake of bilateral mastectomy and/or risk-reducing salpingo-oophorectomy; cancer-specific- and general distress; family involvement in decision making; and decision regret. A process-oriented retrospective online survey will examine health professionals' attitudes toward TFGT; a health economic analysis will determine the cost effectiveness of the intervention.Discussion: This trial will provide crucial information about the impact, efficiency and cost effectiveness of an educational pamphlet designed to inform younger women newly diagnosed with breast cancer about genetic testing. Issues regarding implementation of the trial are discussed.Trial registration: The study is registered with the Australian and New Zealand Clinical Trials Group (Registration no: ACTRN12610000502033)