Primary mucosal desmoplastic melanoma of the nasal vestibule: the second case.
Primary mucosal desmoplastic melanoma is an exceedingly rare, potentially devastating disease that is often initially misdiagnosed because of its deceptively benign presentation. We report what we believe is only the second case of mucosal desmoplastic melanoma arising from the nasal vestibule. The patient, a 62-year-old woman, presented with an obstructive, enlarging mass in the nasal cavity. The tumor, which was initially believed to be benign, was excised, but it recurred 12 months postoperatively. The recurrence was excised, but 4 years later, the patient experienced a second recurrence; in this case, the tumor had invaded the cribriform plate and extended to the anterior cranial fossa. The tumor subsequently metastasized to the dura mater, which led to the patient's death. We review the distinction between conventional mucosal melanoma and mucosal desmoplastic melanoma, and we discuss the ways in which the behavior of a desmoplastic melanoma can point to the diagnosis. Because a diagnosis can be difficult to establish, we stress the importance of maintaining a high index of suspicion when evaluating pathologic and immunohistochemical findings in a patient with a recurrent mucosal nasal mass.
Since it was first identified as a variant of malignant melanoma by Conley et al (1) in 1971, desmoplastic melanoma has presented diagnostic challenges. The tumor is most commonly found in chronically sun-exposed skin of the head and neck; cases affecting the oral mucosa and conjunctiva have also been reported. (2-4) To the best of our knowledge, only 20 cases of primary mucosal desmoplastic melanoma have been reported in the literature, (5-16) and only 1 of these cases originated in the nasal cavity. (13) We report what we believe is only the second case of a primary mucosal desmoplastic melanoma of the sinonasal cavity, and we review the previously reported cases of mucosal desmoplastic melanoma of the head and neck.
A 62-year-old woman presented to our clinic with a 6-week history of a progressively enlarging mass in the left nasal vestibule and associated soreness, congestion, pressure, and drainage. Examination elicited a tender firmness within the ala; the vestibular mucosa was intact and not pigmented. Computed tomography (CT) detected a soft-tissue mass. Excisional biopsy was performed, and a diagnosis of fibrosis, scarring, and inflammation was rendered. On microscopic evaluation, it was noted that lymphocytes had heavily infiltrated the area of scarring and the adjacent adipose tissue, and they extended to the submucosa and cartilage. No malignant cells were recognized initially, but retrospective review revealed the presence of a few scattered neoplastic spindle cells and even a few nests of neoplastic cells. Twelve months later, the patient returned with a 9-mm mass that was obstructing the left naris. The tumor was removed along with the cicatrix, nasal ala, and inferior turbinate; no neural invasion was detected. Microscopic examination revealed that both the recurrent specimen and the primary lesion from the previous year were desmoplastic melanomas. The density of the neoplastic cells in the second tumor was greater than that of the first, and the amount of lymphoid infiltrate in the recurrence was markedly less than that in the primary. Up to 3 mitotic figures per high-power field were present in the recurrence, and immunohistochemical study demonstrated strong positivity for vimentin, S-100 protein, melan A, gp 100, and p75.
Four years later, pre-reconstructive CT detected a confluent soft-tissue density in the left ethmoid air cells. Subsequent magnetic resonance imaging (MRI) identified an enhancing mass involving the left subfrontal area of the brain with contiguous involvement of the left ethmoid air cell and intracranial extension (figure 1). Subtotal excision of the tumor was performed with a bifrontal craniotomy and total ethmoidectomy. The pathology unit reported that the tumor represented a second recurrence of the desmoplastic melanoma. This mass was remarkably similar to the previous two desmoplastic melanomas, but it was more densely cellular. Immunohistochemistry was moderate for S-100 protein, yet gpl00 and micro-ophthalmia markers were strongly and diffusely reactive.
[FIGURE 1 OMITTED]
Positron-emission tomography performed 2 weeks postoperatively demonstrated periethmoid uptake consistent with residual tumor as opposed to inflammation. Accounting for known positive margins, adjuvant radiation therapy was administered. Postradiation examination revealed a 6-mm mass at the posterior aspect of the cribiform plate. MRI found two suspected metastases in the dura of the left temporal lobe (figure 2). Despite treatment with chemotherapy, the patient developed complications of seizures, recurrent epistaxis, and intracranial bleeding. The metastases spread to involve the right basal ganglia, leading to the patient's death 65 months after diagnosis of the second recurrence.
Two of the less common subtypes of malignant melanoma are desmoplastic melanoma and conventional melanoma arising in mucosa. Desmoplastic melanoma is subclassified into two categories: cutaneous and mucosal. The mucosal variant is extremely rare, so we must deduce its characteristics by proxy. The characteristics of both cutaneous and mucosal desmoplastic melanoma are a predilection for the head and neck, the presence of neurotropism, a high likelihood of recurrence, and fewer metastases than are associated with common melanomas. (17) Also, both types have a predilection for males; the male-to-female distributions are 2:1 for the cutaneous subtype and 3:1 for the mucosal subtype. (17)
Mucosal melanomas of the sinonasal area account for less than 1% of all melanomas. (18) To distinguish among the rare subtypes, one must look for differences in minute details. Desmoplastic melanoma has thus far been almost exclusively found in the oral cavity, while conventional mucosal melanoma more commonly arises in the nasal cavities. Both entities are associated with a high rate of recurrence, but conventional mucosal melanoma metastasizes at a much higher rate. However, the mortality rates for the two are similar when tumor thickness is taken into account. (19) In the nose, both desmoplastic melanoma and conventional mucosal melanoma often cause unilateral nasal obstruction, swelling, and discharge; the seemingly benign nature of these signs and symptoms can lead to a delayed presentation. Epistaxis is present in almost all cases of nasal melanoma.
Owing to the rarity of desmoplastic melanoma, its diagnosis is difficult, as was evidenced in this case. Not only is it very low on any list of differential diagnoses, it is not likely to be recognized on routine clinical and pathologic evaluations. (11) Nevertheless, there are some histologic findings that may assist in the diagnosis: aggregates of lymphoid infiltrates, poor circumscription of the dermal infiltrate, subtle pleomorphism, and hyperchromasia with an associated lentiginous melanocytic proliferation. (20) We suggest that immunohisto-chemistry be undertaken when any combination of these characteristics is discovered. We believe that immunohistochemistry is indispensable to identifying desmoplastic melanoma markers--S-100 in particular, (17) but also gpl00, vimentin, (11) and desmin. (2)
The only previously reported case of nasal mucosal desmoplastic melanoma caused obstructive symptoms; it also recurred and eventually led to the patient's death 20 months after diagnosis. (13) Indeed, of the previously reported cases of mucosal desmoplastic melanoma, recurrence was reported in all but the most recent case, (16) even after excision with clean margins. Two factors appear to be involved in these recurrences: neurotropism and tumor depth. Neurotropism not only predisposes to recurrence, it also provides a potential pathway for spread, even intracranially. (13) Furthermore, mucosal desmoplastic melanoma lesions are usually thicker than cutaneous desmoplastic melanoma lesions, and studies have shown that a Breslow thickness greater than 4 mm correlates with a local recurrence rate of 40.2% (17) and a 5-year survival rate of 61%. (3) Metastasis is also related to the depth of the lesion and to a history of recurrences. (17) The course of our case supports the high frequency of local recurrence.
[FIGURE 2 OMITTED]
The treatment of choice is wide ([greater than or equal to] 1cm) local excision. Treatment with radio- and/or chemotherapy has not been sufficiently studied. Long-term follow up is necessary because the recurrence process can be slow. (17)
In conclusion, desmoplastic melanoma is a rare variant of malignant melanoma. It is most common in the skin of the head and neck, but it can also arise in the oral, conjunctival, and nasal mucosa. The overall prognosis is more favorable than that for conventional malignant melanoma, but desmoplastic melanoma is still extremely serious. Desmoplastic melanoma of the nasal cavity may be life-threatening because of its proximity to vital structures and its advanced stage at presentation because of the difficulty in making a diagnosis.
A clinician's suspicion should be aroused in the setting of any recurrent mucosal nasal mass, despite the seemingly benign nature of the presentation. We suggest a deep excisional biopsy with appropriate immunohisto-chemistry for any recurrent fibromatous tumor. Treatment involves wide local excision as early as possible, and long-term follow-up.
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Corresponding author: Reginald Baugh, MD, Division of Otolaryngology, Department of Surgery, University of Toledo, 3065 Arlington Ave., Mail Stop 1095, Toledo, OH 43614-5807. Email: firstname.lastname@example.org
From the Department of Otorhinolaryngology, Mayo Clinic Arizona, Phoenix (Dr. Cervantes); and the Division of Otolaryngology, Department of Surgery, University of Toledo College of Medicine, Toledo, Ohio (Dr. Baugh).
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|Title Annotation:||ORIGINAL ARTICLE|
|Author:||Cervantes, Sergio S.; Baugh, Reginald|
|Publication:||Ear, Nose and Throat Journal|
|Article Type:||Case study|
|Date:||Oct 1, 2011|
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