Outcomes of Staged Excision With Circumferential en Face Margin Control for Lentigo Maligna of the Head and Neck.

BACKGROUND: Treatment practices vary for lentigo maligna (LM). Staged excision with circumferential margin control (SECMC) has the potential to achieve low recurrence rates. OBJECTIVES: To evaluate the clinical outcomes of SECMC using permanent, paraffin-embedded sections and delayed reconstruction. METHODS: We conducted a retrospective, uncontrolled, observational cohort study involving patients who underwent staged excision for LM of the head and neck at Women's College Hospital in Toronto, Canada, from September 2010 to March 2013. Recurrence and infection rates were ascertained from patient charts and postal surveys. RESULTS: One hundred and two patients (45 female, 57 male) were included with a median follow-up time of 1410.5 (IQR 260-1756) days. The median age was 69 (IQR 61-79) years. Approximately one-fifth (21%, 21/102) of patients required greater than 0.5 cm margins to achieve histological clearance. One patient (1/102) upstaged to invasive melanoma based on the initial stage of excision. The infection rate was 6% (6/102) and the 5-year cumulative recurrence rate was 1.4% (95% CI 0.2-9.6%). CONCLUSION: SECMC using permanent sections and delayed reconstruction appears to be a safe and effective treatment method for LM on the head and neck. Randomized trials are needed to help define the optimal treatment.

Treatment for Lentigo Maligna of the Head and Neck: Survey of Practices in Ontario, Canada.

BACKGROUND: Lentigo maligna is an in situ form of cutaneous melanoma that commonly arises on the head and neck. Various surgical and nonsurgical treatment options are available but no randomized trials exist to guide practice. OBJECTIVE: To determine the current treatment practices for lentigo maligna of the head and neck in Ontario, Canada. MATERIALS AND METHODS: Cross-sectional survey of dermatologists, plastic surgeons, and head and neck surgeons. RESULTS: The response rate was 35% (190/542). Wide excision with immediate reconstruction was the most commonly recommended treatment for tumors on the cheek (69%), whereas staged excision with margin control was recommended most often for tumors on the nasal ala (60%). Overall, 5 mm was the most frequently recommended initial surgical margin (69%); 26.5% of respondents recommended margins wider than 5 mm. For tumors on the nasal ala, eyelid, and ear helix, more than 30% of respondents recommended an initial margin narrower than 5 mm. CONCLUSION: Although surgical excision is the predominant treatment modality for lentigo maligna on the head and neck, practices vary considerably in terms of the type of excision and the initial margin used. Potential response bias and the geographic restriction of our sample may limit the generalizability of our results.

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

BACKGROUND: The Hutterites are a religious isolate living in colonies across the North American prairies. This population originated from approximately 90 founders, resulting in a number of genetic diseases that are overrepresented, underrepresented, or unique. The founder effect in this population increases the likelihood that Hutterite couples carry the same recessive mutations. We have designed a diagnostic chip on a fee-for-service basis with Asper Biotech to provide Hutterites with the option of comprehensive carrier screening. METHODS: A total of 32 disease-causing mutations in 30 genes were selected and primers were designed for array primer extension-based testing. Selected mutations were limited to those leading to autosomal recessive disorders, maintaining its primary use as a test for determining carrier status. RESULTS: The DNA chip was developed and validated using 59 DNA controls for all but one of the mutations, for which a synthetic control was used. All mutations were readily detected except for a duplication causing restrictive dermopathy where heterozygotes and homozygotes could only be distinguished by sequencing. Blinded testing of 12 additional samples from healthy Hutterites was performed by Asper Biotech using chip testing. All known mutations from previous molecular testing were detected on the chip. As well, additional mutations identified by the chip in these 12 samples were subsequently verified by a second method. CONCLUSIONS: Our analysis indicates that the chip is a sensitive and specific means of carrier testing in the Hutterite population and can serve as a model for other founder populations.