James Wykes

Diagnostic and prognostic utility of Mastermind-like 2 (MAML2) gene rearrangement detection by fluorescent in situ hybridization (FISH) in mucoepidermoid carcinoma of the salivary glands.

OBJECTIVE Mucoepidermoid carcinoma (MEC) is the most common salivary gland malignancy, with a proportion harboring MAML2 rearrangement. This study evaluates the diagnostic and prognostic utility of MAML2 rearrangement in MEC. STUDY DESIGN Salivary gland malignancies at a single institution (1989-2014) were reviewed to identify MECs. Histopathologic evaluation, immunohistochemistry, and fluorescent in situ hybridization (FISH) were performed. RESULTS Forty-one cases of MEC were identified, with mean age of 47 years and mean tumor size of 21 mm. Seven locoregional recurrences and five MEC-related deaths were seen over a 22-year follow-up period. Thirty-eight cases were suitable for FISH, and 31 (82%) cases were positive for MAML2 rearrangement, including the oncocytic and clear cell variants of MEC. FISH was negative in the morphologic mimics of MEC. MAML2 rearrangement was significantly associated with longer survival. CONCLUSIONS MAML2 rearrangement is common and specific for MEC, which makes it a useful diagnostic tool. MAML2 rearrangement also predicts a favorable prognosis.

Laparoscopic repair of Morgagni hernia: an interesting case and complication

A 63-year-old man presented to the emergency department with a 3-day history of epigastric pain and persistent postprandial vomiting on a background of intermittent postprandial vomiting for the last month. He denied blunt trauma, chronic cough or other risk factors for an acquired hernia. Examination of the non-obese man showed mild epigastric tenderness. Chest X-ray demonstrated a gastric bubble in his right chest. Computed tomography (CT) scan demonstrated an anterior diaphragmatic hernia of Morgagni, containing part of the stomach and proximal duodenum, as well as transverse colon (Fig. 1). He had a hypochloraemic metabolic alkalosis and contrast was confined to the stomach, suggesting gastric outlet obstruction. Initial management included nasogastric tube decompression and electrolyte balance. The patient proceeded to a laparoscopic repair of the hernia (Fig. 2). The edge of the hernial defect was defined and repaired with a 16 × 7 cm dual layer polytetrafluoroethylene-polypropylene mesh. This was secured with interrupted 2-0 mersilene (Ethicon, Somerville, NJ, USA) sutures and AbsorbaTacks (Covidien, Mansfield, MA, USA) (Fig. 3). Post-operative CXR confirmed reduction of the hernia contents. The patient made a good recovery and was discharged 3 days after surgery. He represented 3-week post-op with epigastric pain, shortness of breath, and collapse with acute renal failure and hypotension. CT scan revealed a large haematoma in the hernia sac. This was initially drained percutaneously with a CT-guided pigtail catheter with good clinical improvement. His shortness of breath returned the next day with a haemoglobin drop to 75 g/L. He underwent a right anterolateral thoracotomy, the hernia sac was deroofed and 2000 mL of clot was removed. A small bleeding point on the posterior aspect of the xiphisternum was identified and controlled with a nonabsorbable suture. The hernia repair remained intact. He remained a further 10 days in hospital before being discharged in good health and remains well 6 months post-operatively. A Morgagni hernia develops due to a defect between the sternal and crural portions of the diaphragm. This retrosternal defect is most commonly congenital although trauma and obesity have been Fig. 1 Coronal computed tomography image demonstrating herniation of distal stomach through defect.

Perforator variability in the anterolateral thigh free flap: a systematic review

ObjectivesThe use of free flaps greatly improves reconstruction options and quality of life for patients undergoing oncological resections. The anterolateral thigh (ALT) free flap is frequently used in the head and neck. The aim of this review was to provide a summary of published evidence assessing perforator anatomy of this flap.MethodsA broad search was undertaken through the PubMed database using the terms “anterolateral thigh free flap” and “perforator”. Search limits included English language and human subjects. Studies that examined more than or equal to ten patients were analysed.ResultsA total of 23 studies were identified, which included both clinical and cadaver studies. 1251 thighs were examined with the mean number of perforators ranging from 1.15 to 4.26. In the majority of cases, the descending branch of the lateral circumflex femoral artery was the dominant pedicle and took a musculocutaneous route. In some series, up to 5.4% of thighs were identified as having no cutaneous perforators. Venous data is limited with most studies reporting the presence of two concomitant veins of which the largest concomitant vein is selected for venous anastomoses.Conclusions and future studiesThe ALT free flap is a reconstruction option in head and neck cancer. Adequate perforators for reconstruction are identified in the majority of cases. Increased anatomical perforator knowledge may lead to further uptake of ALT free flap reconstruction and improved intraoperative troubleshooting. Further studies investigating those patients with no perforators in the ALT may lead to improved clinical outcomes.

Diagnostic and prognostic utility of mastermind-like 2 (MAML2) gene rearrangement detected by fluorescent in-situ hybridisation (Fish) in mucoepidermoid carcinoma

Aims: Mucoepidermoid carcinoma (MEC) is the most common salivary gland malignancy. A proportion of MECs have been shown to harbour MAML2 translocation. This study evaluates the diagnostic and prognostic utility of MAML2 in MEC. Methods: Salivary gland malignancies at Royal Prince Alfred Hospital and Sydney Head and Neck Cancer Institute (1989–2014) were reviewed to identify MECs. Histopathological evaluation, immunohistochemical and fluorescent in-situ hybridisation (FISH) studies were performed. An additional nine cases of morphological mimics of MEC were also analysed for MAML2 rearrangement. Clinical follow-up was obtained. Results: 40 cases of MEC were identified. Parotid gland was the most common site (73%). The age range was 15–79 years (mean 47 years). The tumour size ranged from 4–70 mm (mean 22 mm). Thirty-seven cases were suitable for FISH and 31 (84%) cases were positive for MAML2 translocation, including oncocytic and clear cell variants of MEC. The nine morphological mimics of MEC did not show MAML2 rearrangement. MAML2 translocation did not correlate with histological grade, stage, nodal metastases, recurrence or survival, limiting its prognostic utility. Conclusion: FISH for MAML2 rearrangement has high sensitivity and specificity for MEC. Thus it is a useful diagnostic tool, particularly in cases with limited material or variant morphology.

The Prognostic Impact of Tumor Size in Papillary Thyroid Carcinoma is Modified by Age

BACKGROUND Although the importance of tumor size in papillary thyroid cancer (PTC) is well established, there is no research investigating whether age modifies the impact of tumor size, and there is conflicting evidence regarding optimal size thresholds for prognostic discrimination. We aimed to verify that tumor size is an independent prognostic factor in PTC, investigate the impact of patient age, and identify optimal size cutoffs for risk stratification using objective measures of model performance. METHODS A retrospective analysis of 574 patients with PTC, using multivariate Cox regression models to test the impact of tumor size on recurrence-free survival (RFS). Subgroup analyses were performed in patients aged <55 and ≥55 years. Exploratory analyses to identify optimal size cutoffs for prognostic discrimination were performed using the proportion of variation explained (PVE) and Harrells C-index. RESULTS Tumor size predicted RFS on multivariate analysis in the overall study cohort (hazard ratio [HR] 1.16; [95% confidence interval (CI)1.01-1.34]; p = 0.038). In subgroup analysis, there was no association between tumor size and RFS in patients aged <55 years (HR 1.11; [CI 0.89-1.38]; p = 0.362). In contrast, size was an independent predictor of RFS in patients aged ≥55 years (HR 1.52; [CI 1.11-2.07]; p = 0.009). In this subgroup, an optimal size threshold of >2 cm versus ≤2 cm (HR 5.24; [CI 2.30-11.92]; p < 0.001; PVE: 36%; C-index: 0.66) provided the greatest prognostic discrimination. There was no incremental improvement in prognostic value by further stratification of size. CONCLUSION In our PTC cohort, the impact of tumor size on RFS was limited to patients aged ≥55 years. A single size threshold of 2 cm maximized prognostic discrimination with tumors >2 cm associated with a five times higher risk of recurrence than those ≤2 cm. These findings need to be validated in independent large cohorts and the potential management and staging implications further studied.

An Analysis of The American Joint Committee on Cancer 8th Edition T Staging System for Papillary Thyroid Carcinoma.

Background The American Joint Committee on Cancer (AJCC) removed microscopic extrathyroidal extension (ETE) from the 8th edition T staging for papillary thyroid cancer (PTC) based on increasing evidence that it is not an independent prognostic factor. Objectives We compared the prognostic performance of AJCC 7th (pT7) and 8th (pT8) edition T stage systems, particularly in patients ≥55 years old without macroscopic ETE or distant metastases in whom T classification affects AJCC Tumor Node Metastasis (TNM) stage. Method A retrospective analysis of disease-free survival (DFS) in 577 patients with PTC comparing pT8 vs pT7 using the Akaike information criterion (AIC), Harrells C-index, and Proportion of Variation Explained (PVE). Results Of 105 patients with AJCC7 T3 disease, 74 were down-staged. Overall, the prognostic performance of pT7 and pT8 was similar. However, in patients ≥55 years old without macroscopic ETE or distant metastases, pT8 was inferior to pT7 on the basis of higher AIC, lower C-index (0.67 vs 0.76), and lower PVE (30% vs 45%). In this subset, microscopic ETE was associated with multiple other adverse prognostic features and reduced DFS (hazard ratio, 2.8; 95% confidence interval, 1.5 to 5.2; P = 0.002), irrespective of tumor size. Discussion In our cohort, pT8 was inferior to pT7 in patients ≥55 years old without macroscopic ETE or distant metastases in whom T classification affects TNM stage. Microscopic ETE was strongly associated with other adverse prognostic factors and reduced DFS in this patient subgroup and may be an effective surrogate for disease biology in PTC, irrespective of whether it is an independent prognostic factor.

Examining clinicians’ perceptions of head and neck cancer (HNC) information

Providing appropriate educational resources to patients with head and neck cancer (HNC) is important but challenging. The aim of this study was to determine Australian clinicians’ perceptions of currently used HNC information resources.

Microscopic positive margins in papillary thyroid cancer do not impact disease recurrence

The prognostic significance of microscopic positive margins in papillary thyroid carcinoma (PTC) remains unclear. The aim of this study was to determine if microscopic positive margins are associated with increased risk of disease recurrence.

Sympathetic trunk repair following penetrating injury to the neck

There are relatively few published reports of Horner’s syndrome following penetrating injury to the neck. We present the case of a 19-year-old female sustaining a Zone 2 neck laceration with Horner’s syndrome due to complete transection of the sympathetic trunk. Nerve repair was performed with an interposition cable nerve graft using ansa cervicalis and resulted in complete recovery at 13 months follow-up. Neuropraxia cannot be differentiated from nerve transection clinically or radiologically and given the potential for complete recovery after nerve repair, we advocate for surgical exploration in all cases of penetrating neck injury with Horner’s syndrome.

Quantifying the contribution of pathology to patient management: a review of pathology cases presented at a head and neck multidisciplinary meeting

Background: Multidisciplinary meetings (MDMs) are widely established in oncology. Studies into the effectiveness of MDMs have principally focused on patient outcomes and management changes, without specific reference to the impact of pathology on decision-making. Aims: To determine the influence of pathology on patient management discussed at a head and neck MDM, and the factors leading to change. Methods: We reviewed anatomical pathology cases discussed at the head and neck MDM between January and September 2014. The surgical team prospectively recorded pre- and post-MDM management plans. Results: Of 129 patients, pathology led to management change in 26 patients (20.2%). Factors included involved margins (14/26, 53.8%), adverse prognostic factors (9/26, 34.6%), unexpected second pathology (5/26, 19.2%), unexpected disease extent (3/26, 11.5%), unexpected primary diagnosis (2/26, 7.7%), diagnosis change on review (1/26, 3.8%), and unexpected differential diagnosis (1/26, 3.8%). Two factors were present in 9 cases (34.6%). Changes included institution of radiotherapy, chemotherapy, or radioactive iodine (16/26, 61.5%), further surgical or investigative procedures (8/26, 30.8%), and palliation (2/26, 7.7%). Discussion: The input of pathologists at MDMs of a complex discipline can be instrumental in determining appropriate management, mitigating patient risk and improving the quality of care, and provides quality assurance for the unit.