Andrew Dettrick

National Working Group Meeting on ALK Diagnostics in Lung Cancer

The global landscape of molecular testing is rapidly changing, with the recent publication of the International Association for the Study of Lung Cancer (IASLC)/College of American Pathologists (CAP) guidelines and the ALK Atlas. The IASLC/CAP guidelines recommend that tumors from patients with non‐small cell lung cancer (NSCLC) be tested for ALK rearrangements in addition to epidermal growth factor receptor (EGFR) mutations. The spur for this recommendation is the availability of novel therapies that target these rearrangements. This article is based on coverage of a Pfizer‐sponsored National Working Group Meeting on ALK Diagnostics in Lung Cancer, held around the 15th World Lung Cancer Conference, in Sydney on October 31, 2013. It is based on the presentations given by the authors at the meeting and the discussion that ensued. The content for this article was discussed and agreed on by the authors.

Collagenous enterocolitis and maturity onset type 1 diabetes manifesting as uraemia, malabsorption and extreme weight loss.

A 37-year-old patient with type 1 diabetes had been recently diagnosed with collagenous colitis (CC) after sigmoidoscopy. She rapidly progressed from a fortnight of watery diarrhoea, to a malabsorptive state with severe dehydration and acute kidney injury. This necessitated admission to an intensive care unit for emergency dialysis. She was subsequently diagnosed with collagenous enterocolitis affecting gastric, small bowel and colonic mucosa which required systemic steroid therapy. Physicians caring for patients with CC should be aware of the potential extreme manifestations of upper gastrointestinal collagenous deposition.

Use of microbubble contrast in the diagnosis of a left ventricular papillary fibroelastoma

Summary A papillary fibroelastoma is a rare, avascular, cardiac tumour that is often found incidentally using transthoracic echocardiography (TTE). Peripheral i.v. injection of a microbubble contrast agent is often used to characterize abnormal masses within the heart allowing further delineation of physical features, the area of attachment, and vascularity of the mass in order to differentiate the growth from a tumour or a thrombus. This case highlights a potential pitfall when assessing a cardiac tumours vascularity using contrast TTE. A cardiac mass was identified on a TTE of a 53-year-old man and was further investigated with microbubble contrast-enhanced TTE. Contrast TTE imaging suggested a vascularized structure in the left ventricle. However, after histological examination the tumour was found to be entirely avascular. Learning points Differentiation of cardiac tumour is usually best performed with contrast echocardiography. Contrast echocardiography may not be best tool to determine if cardiac mass is vascularized. A papillary fibroelastoma can appear vascularized with contrast echocardiography due to its frond-like structures. Physicians should be aware of this potential confusion when assessing a cardiac tumour in patients.

Right ventricular inflow tract obstruction secondary to metastatic cutaneous squamous cell carcinoma

We report the case of an immunocompetent 83-year-old man with metastatic neoplastic infiltration of the heart from primary squamous cell carcinoma (SCC) of the skin. Death was from cardiopulmonary collapse due to left ventricular failure with features of right ventricular inflow tract obstruction. Metastatic tumours involving the heart rarely originate from cutaneous SCC though have been reported in the literature in both immunocompetent and postrenal-transplant recipient patients. Most involve the pericardium and only rarely the endocardium or the myocardium. While the prognosis is generally poor, palliative radiotherapy may provide significant symptom relief. Cardiac metastases should be considered in patients with advanced cancer, especially when they show cardiac symptoms and signs.

23. Non-specific interstitial pneumonia and polymyositis as a manifestation of antisynthetase syndrome with anti-EJ antibodies

We present a case of a 48-year-old woman who developed synchronous proximal myopathy and colorectal adenocarcinoma. Muscle biopsy demonstrated an inflammatory necrotizing myopathy, and routine autoimmune screens and paraneoplastic screens were negative. Testing was undertaken for antisynthetase antibodies, demonstrating positivity for anti-EJ antibodies. The patient developed progressive shortness of breath, and shortly thereafter succumbed to bronchopneumonia. Findings at autopsy confirmed the presence of interstitial lung disease, with a non-specific interstitial pneumonia pattern. Antisynthetase syndrome is a systemic autoimmune disease associated with autoantibodies to certain aminoacyl-tRNA synthetases, and is characterized typically by myositis, polyarthritis and interstitial lung disease. Aminoacyl-transfer RNA synthetases are a family of cytoplasmic enzymes that catalyze amino acid attachment to corresponding aminoacyl-tRNAs during the translation phase of protein synthesis. In this case, the autoantibody is to the glycyl-transfer RNA synthetase, one of the rarest described antisynthetase autoantibodies.

Case report: micropapillary and sebaceous differentiation in a male breast carcinoma

A micropapillary growth pattern is uncommon in male breast carcinomas and is typically associated with an aggressive clinical course. This case report describes a 71-year-old male who presented with a fungating chest wall mass arising in the vicinity of the nipple. The tumour displayed significant micropapillary and sebaceous differentiation within a predominantly nested and solid pattern of invasive carcinoma. The tumour was positive for oestrogen and progesterone receptors on immunohistochemistry. Rare cases of pure micropapillary carcinomas have been reported in males. This case report highlights this unusual presentation and includes a brief review of the literature.