Nasopharyngeal Melanoma

Mucosal nasopharyngeal melanoma is a rare head and neck melanoma. Prognosis is poor (5-year overall survival rate of 10–30%) with high rates of metastases and local recurrence. Head and neck mucosal melanoma represents 0.8–3.7% of all melanomas and 0.03% of all neoplasms; the most commonly involved sites are the nose, paranasal sinuses, oral cavity, pharynx, and larynx. A slight female predominance has been described and the median age of presentation is 64.3. Irritants and carcinogenic substances, such as tobacco smoke and formaldehyde, seem to be related to its development. A lack of specific clinical features often leads to a late diagnosis. At an early stage, clinical features can include epistaxis, obstruction, difficulty breathing, serous otitis media, and nasal discharge; subsequently, pain, facial distortion, proptosis, and diplopia predominate the clinical pictures. Masses are mostly polyploid, friable, and bloody. They can be amelanotic or surrounded by black- or brown-pigmented dots. Nasopharyngeal melanoma resembles other common polypoid lesions; therefore, histology plays a pivotal role in confirming the diagnosis. Computed tomography, facial and total body scan, as well as magnetic resonance imaging are mandatory for a correct staging. Surgical treatment remains the gold standard. External or intranasal incision depends on tumor site and size. Sentinel lymph node biopsy is not usually performed. Neck dissection is indicated in cases of clinical and/or radiological positivity. Radiotherapy is mostly palliative, as radiotherapy lacks efficacy for mucosal melanomas. The effectiveness of target therapy and/or immunotherapy is undergoing evaluation

Anorectal Melanoma

Anorectal melanoma (AM) is a rare malignancy, characterized by aggressive behavior and a poor prognosis. AM is more frequent in female patients aged over 50 years. AM accounts for 0.4–1.6% of all melanomas, 23.8% of all mucosal melanomas, and 1% of all anorectal malignant tumors. There are many theories regarding AM pathogenesis. Some consider that AM may be related to oxidative stress in the region and/or to immunosuppression. Others propose that AM may derive from Schwannian neuroblastic cells or cells of the amine-precursor uptake and decarboxylation system of the gut. Assessment of pigmented lesions located on hidden areas is difficult. Together with late and nonspecific signs and symptoms which usually occur only in conjunction with large masses, diagnosis of these mucosal melanomas is often delayed. Most frequently, the signs and symptoms are obstruction, rectal bleeding, pain, or rectal tenesmus. There are various histological variants of AM: epithelioid, spindle cell, lymphoma-like, and pleomorphic. Surgery (abdominoperineal resection or local excision) is the most effective treatment for AM; however, this is not associated with improved overall survival. Recurrence is more frequent in cases of anorectal and rectal involvement when compared with anal-only involvement. There is currently no consensus about the most appropriate systemic treatment. The efficacy of some protocols previously used in patients with cutaneous melanomas is currently being studied in mucosal melanoma

Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction.

Polymerase chain reaction (PCR) amplification of specific alleles allowed the rapid detection of a point mutation (missense Gly528 → Asp) in exon 11 of the low density lipoprotein receptor gene which was otherwise not detectable by exon amplification and enzymatic digestion as it does not modify the normal restriction pattern. The mutant allele, designated as FH-Palermo-1 from the origin of the first carrier family identified, gave a specific PCR product of 109 bp clearly distinct from the product of 168 bp obtained from other alleles with a nonspecific couple of primers. This method allowed us to distinguish one positive sample mixed with up to 11 parts of normal DNA. Furthermore, the specific amplification product was characterized by a Bsm I restriction site not present in nonspecific products.—Cantafora, A., I. Blotta, E. Mercuri, S. Calandra, and S. Bertolini. Simple detection of a point mutation in LDL receptor gene causing familial hypercholesterolemia in southern Italy by allele-specific polymerase chain reaction. J. Lipid Res. 1998. 39: 1101–1105

optical coherence tomography angiography in the evaluation of geographic atrophy area extension

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