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Conjunctival Primary Acquired Melanosis: Is It Time for a New Terminology?

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Conjunctival Primary Acquired Melanosis: Is It Time for a New Terminology? PERSPECTIVE Conjunctival Primary Acquired Melanosis: Is It Time for a New Terminology? FREDERICK A. JAKOBIEC PURPOSE: To review the diagnostic categories of a CONCLUSION: All pre- and postoperative biopsies of group of conditions referred to as ‘‘primary acquired flat conjunctival melanocytic disorders should be evalu- melanosis.’’ ated immunohistochemically if there is any question DESIGN: Literature review on the subject and proposal regarding atypicality. This should lead to a clearer micro- of an alternative diagnostic schema with histopathologic scopic descriptive diagnosis that is predicated on an and immunohistochemical illustrations. analysis of the participating cell types and their architec- METHODS: Standard hematoxylin-eosin–stained sec- tural patterns. This approach is conducive to a better tions and immunohistochemical stains for MART-1, appreciation of features indicating when to intervene HMB-45, microphthalmia-associated transcription factor therapeutically. An accurate early diagnosis should fore- (MiTF), and Ki-67 for calculating the proliferation index stall unnecessary later surgery. (Am J Ophthalmol are illustrated. 2016;162:3–19. Ó 2016 by Elsevier Inc. All rights RESULTS: ‘‘Melanosis’’ is an inadequate and misleading reserved.) term because it does not distinguish between conjunctival intraepithelial melanin overproduction (‘‘hyperpigmenta- ONJUNCTIVAL MELANOMAS ARE SEEN IN 2–8 INDI- tion’’) and intraepithelial melanocytic proliferation. It viduals per million in predominantly white popula- is recommended that ‘‘intraepithelial melanocytic prolif- tions and constitute only 2% of ocular eration’’ be adopted for histopathologic diagnosis. Atyp- C 1 melanomas, the remainder developing in the uveal tract. ical proliferations are characterized either by bloated There is some evidence that ultraviolet radiation plays a dendritic melanocytes with enlarged cell components role in causing many conjunctival melanocytic lesions, (dendrites, cell bodies, and nuclei) or by epithelioid mela- which develop most often in the interpalpebral zone.2 nocytes without dendrites. Atypical polygonal or epithe- Around 25% of conjunctival melanomas arise in pre- lioid pagetoid cells may reach higher levels of the existing nevi (which appears not to influence prognosis) epithelium beyond the basal layer. Immunohistochem- and 70%–75% in pre-existing ‘‘primary acquired melano- istry defines the degree of melanocytic proliferation or sis,’’ which is somewhat more common than melanomas. the cellular shape (dendritic or nondendritic) (MART-1, Primary acquired melanosis (PAM) is one of the few dis- HMB-45) or identifies the melanocytic nuclei (MiTF). eases in ophthalmology that is on a trajectory capable of Intraepithelial melanocytic proliferation without atypia culminating in fatality (13%–30% lethality for mela- represents increased numbers of normal-appearing den- nomas at 10 years). An important exercise in ophthalmic dritic melanocytes (hyperplasia or early neoplasia) that pathology, therefore, is the prediction of which patients generally remain confined to the basal/basement mem- with PAM are at high risk to develop melanoma, a pro- brane region. Intraepithelial nonproliferative melano- gressively metastasizing lesion once the invasive nodule cytic pigmentation signifies the usually small number of exceeds a thickness of 0.8 mm.3 conjunctival basal dendritic melanocytes that synthesize Despite ongoing investigations, including many clini- increased amounts of melanin that is transferred to sur- cally valuable and biologically insightful studies and re- rounding keratinocytes. views,3–12 the subject of flat, acquired pigmented lesions of the conjunctiva continues to be challenging and to See Accompanying Editorial on page 1. retain a certain degree of mystery. This is particularly Accepted for publication Nov 3, 2015. true of the group of conditions collectively referred to From the David G. Cogan Laboratory of Ophthalmic Pathology, as primary acquired melanosis, a designation with Massachusetts Eye and Ear Infirmary and the Department of Ophthalmology, Massachusetts Eye and Ear Infirmary and Harvard limitations that has been in circulation for over half a 11,12 Medical School, Boston, Massachusetts. century and that is the main focus of this article. Inquiries to Frederick A. Jakobiec, Director, David G. Cogan Zimmerman (1920–2013)12 has given a reminiscence of a Laboratory of Ophthalmic Pathology, Massachusetts Eye and Ear Infirmary, 243 Charles St – Room 328, Boston, MA 02114; e-mail: gentleman’s difference of opinion regarding the fate of [email protected] PAM between him and Algernon Reese (1900–1980), 0002-9394/$36.00 Ó 2016 BY ELSEVIER INC.ALL RIGHTS RESERVED. 3 http://dx.doi.org/10.1016/j.ajo.2015.11.003 who took a special interest in the subject as the father of MELANOCYTIC ORIGINS AND American ophthalmic oncology.13,14 It is proposed herein that the term PAM, which departs from descriptions of BIOLOGY analogous skin conditions in dermatopathology, be AS THE MIDLINE EMBRYONIC ECTODERM INVAGINATES TO abandoned because it is insufficiently specific and form the neural tube, cells also delaminate to create aggregates nondescriptive of the underlying cellular events. Over on the dorsolateral aspects of the tube called the neural crest the years, attempts have been made to grade PAM with (Figure 1, Top panel, left side).16 Among its many roles, the respect to mild, moderate, or severe degrees of atypia, but neural crest contributes Schwann cells that wrap around the intraobserver and interobserver variability has often axons of peripheral nerves; it also persists postembryonically confounded reproducible accuracy. I have therefore come as the paraspinal ganglia; and most germane to the current dis- to the conclusion that the term primary acquired cussion, it spawns melanocytes, which undergo far-flung mi- melanosis creates an unnecessary impediment for clearly grations to ultimately arrive in the skin and mucosae communicating to ophthalmologists, dermatopathologists, (including the conjunctiva) (Figure 1, Top panel),16,17 but and general pathologists the true biologic nature of the also in other sites like the uvea of the eye (the retinal family of conditions it is meant to encompass. pigment epithelium derives not from the neural crest, but The objectives of this review are 3-fold: (1) to describe instead from the outer neuroectodermal layer of the optic cup). in uncomplicated terms the origin and biology of melano- In the conjunctiva, most migrating melanocytes reach cytes; (2) to describe and illustrate the clinical, histopath- the epithelium to lodge among the basal germinal keratino- ologic, and immunohistochemical features of conjunctival cytes (squamous or epidermoid cells) at the level of the PAM; and (3) to offer an alternative pathologic diag- basement membrane. In more darkly complexioned indi- nostic terminology and schema based on current concepts viduals, some melanocytes may get ‘‘hung up’’ or arrested and language in dermatopathology. The prognosis for in their migration without ever settling in an epithelium cutaneous and conjunctival melanomas has improved (Figure 1, Top panel). Such melanocytic collections in over the years, less as a consequence of advances in ther- the episclera or conjunctival substantia propria appear slate apy, but more as a result of the treatment of lesions at gray to blue, are stationary through life, and are postmitotic the earliest stages before melanomatous evolution has and therefore not responsible for generating conjunctival occurred. For the purposes of this presentation, the term melanomas; they may, however, rarely create diffuse loose primary acquired melanosis has been episodically used, aggregates of cells resulting in the nevus of Ota or focal col- even though an argument is simultaneously made for lections such as the blue nevus or cellular blue nevus. the adoption of what is regarded as a more appropriate The density of the basal dendritic melanocytes in the diagnostic nosology based on the vocabulary that is skin (intraepidermal) differs little among the various frequently employed today for cutaneous precursor le- races, but it may vary to some degree among the races sions, namely ‘‘intraepithelial melanocytic proliferations in mucosal epithelia. Melanocytes are normally found 15 (IMP).’’ The expedient of a dual description of the singly and widely spaced along the basement membrane conjunctival disease (ie, IMP/PAM) in this exposition is rather than in nests (Figure 1, Top panel and Bottom intended to ease the intellectual transition to the new panel #1). Non-nesting hyperplasias of normal-appearing proposed diagnostic framework. dendritic melanocytes of whatever causation are referred Any effort to revise an entrenched terminology will to as manifesting a lentiginous growth pattern when inevitably be considered as quixotic or even provocative confined to the basal layer of the epithelium. Their den- by some experts and consequently encounter variable resis- drites serve to distribute melanin granules by functioning tance. This writer believes, based on the rationale provided as physiologic syringes that inject the granules into the below, that this undertaking is nonetheless worthwhile. surrounding keratinocytes (melanin–keratinocytic unit) The current conjunctival terminology is isolated and paro- (Figure 1, Top panel, inset on right side).17,18 chial, failing to reflect that used in dermatopathology, nor In more darkly complexioned individuals, bilateral,
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