Epithelioid blue nevus: a rare variant of blue nevus not always associated with the Carney complex

Moreno, Carmen; Requena, Luis; Kutzner, Heinz; Cruz, Alberto De La; Jaqueti, G; Yus, Evaristo Sánchez

doi:10.1034/j.1600-0560.2000.027005218.x

Cited by 55 publications

(31 citation statements)

References 14 publications

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“…While collecting a series of ''animal-type melanomas,'' we noticed striking resemblance of the majority of candidate lesions to EBN described in patients with CNC, 3 but later in a sporadic setting outside the complex. 10,11,21,22 We coined the term, PEM for this subset. Rigorous comparison of 41 PEM and 10 EBN from patients with CNC showed that presence of ulceration was the only discriminating feature between the 2 groups 30 ; otherwise they were histologically indistinguishable.…”

Section: Discussionmentioning

confidence: 99%

Loss of Expression of Protein Kinase A Regulatory Subunit 1α in Pigmented Epithelioid Melanocytoma But Not in Melanoma or Other Melanocytic Lesions

Zembowicz

Knoepp

Bei³

et al. 2007

American Journal of Surgical Pathology

114

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Pigmented epithelioid melanocytoma (PEM) is a recently described entity comprising most cases previously described as "animal-type melanoma" and epithelioid blue nevus (EBN) occurring in patients with the multiple neoplasia syndrome Carney complex (CNC). Mutations of the protein kinase A regulatory subunit type 1alpha (R1alpha) (coded by the PRKAR1A gene) are found in more than half of CNC patients. In this study, we investigated whether PEM and EBN are related at the molecular level, and whether changes in the PRKAR1A gene status and the expression of the R1alpha protein may be involved in the pathogenesis of PEM and other melanocytic lesions. Histologic analysis of hematoxylin and eosin-stained sections and immunohistochemistry (IHC) with R1alpha antibody were performed on 34 sporadic PEMs, 8 CNC-associated PEMs from patients with known PRKAR1A mutations, 297 benign and malignant melanocytic tumors (127 conventional sections of 10 compound nevi, 10 Spitz nevi, 5 deep-penetrating nevi, 5 blue nevi, 6 cellular blue nevi, 2 malignant blue nevi, 3 lentigo maligna, and 86 melanomas of various types); in addition, 170 tissue microarray sections consisting of 35 benign nevi, 60 primary melanomas, and 75 metastatic melanomas, and 5 equine dermal melanomas, were examined. Histologic diagnoses were based on preexisting pathologic reports and were confirmed for this study. DNA studies [loss of heterozygosity (LOH) for the 17q22-24 locus and the PRKAR1A gene sequencing] were performed on 60 melanomas and 7 PEMs. IHC showed that R1alpha was expressed in all but one core from tissue microarrays (169/170), and in all 127 melanocytic lesions evaluated in conventional sections. By contrast, R1alpha was not expressed in the 8 EBN from patients with CNC and PRKAR1A mutations. Expression of R1alpha was lost in 28 of 34 PEMs (82%). R1alpha was expressed in the 5 equine melanomas studied. DNA studies correlated with IHC findings: there were no PRKAR1A mutations in any of the melanomas studied and the rate of LOH for 17q22-24 was less than 7%; 5 of the 7 PEMs showed extensive 17q22-24 LOH but no PRKAR1A mutations. The results support the concept that PEM is a distinct melanocytic tumor occurring in a sporadic setting and in the context of CNC. They also suggest that PEM differs from melanomas in equine melanotic disease, further arguing that the term animal-type melanoma may be a misnomer for this group of lesions. Loss of expression of R1alpha offers a useful diagnostic test that helps to distinguish PEM from lesions that mimic it histologically.

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Section: Discussionmentioning

confidence: 99%

Loss of Expression of Protein Kinase A Regulatory Subunit 1α in Pigmented Epithelioid Melanocytoma But Not in Melanoma or Other Melanocytic Lesions

Zembowicz

Knoepp

Bei³

et al. 2007

American Journal of Surgical Pathology

114

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“…Nevertheless, extracutaneous locations have been reported, such as the prostate [15], the cervix [16], the Müllerian tract [17], the oral cavity [18,19], lymph node capsules [20] and neurological structures such as meninges [21,22]. Genodermatosis such as Carney complex with GNAS mutation [23] is known to be associated with this. PTBN was first described by Upshaw et al [1] in 1947.…”

Section: Discussionmentioning

confidence: 99%

Large Agminated Cellular ‘Plaque-Type' Blue Nevus Surrounding the Ear: A Case and Review

Spring

Perrier

Erba³

et al. 2013

Dermatology

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Large or giant cellular blue nevi are usually congenital and represent a challenge for the physician. Close anatomic structures may be altered by the size of the moles. In this article, we report the case of an uncommon large, agminated, cellular blue nevus of the ‘plaque type' in a 42-year-old female. Due to the risks of malignant melanoma development on a large or giant blue nevus, we highlight the importance of proper histopathological diagnosis. Furthermore, because of the possibility that the nevus may invade the bone and cerebral tissues, we discuss the indication of a radiological diagnosis. The accurate correlation to clinical and histopathological findings and appropriate multidisciplinary management can save the lives of patients.

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“…One macroscopic regional lymph node involvement and 100% survival were reported [45]. In the 46 reported sporadic EBNs, none have shown aggressive behavior [3,4,18,19,20,22,23]. It must be said, however, that follow-up in these reports was variable and often short.…”

Section: Discussion and Reviewmentioning

confidence: 63%

“…Congenital sporadic EBN has been reported twice [3,4]. Histopathological features of sporadic EBN were described as similar to those of Carney complex-associated EBN [18,20,22]. …”

Section: Discussion and Reviewmentioning

confidence: 83%

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Two Congenital Cases of Pigmented Epithelioid Melanocytoma Studied by Fluorescent in situ Hybridization for Melanocytic Tumors: Case Reports and Review of These Recent Topics

Battistella

Prochazkova-Carlotti

Berrebi³

et al. 2010

Dermatology

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The term ‘pigmented epithelioid melanocytoma’ (PEM) has recently been proposed as a nosological framework grouping lesions formerly known as animal-type melanomas, sporadic epithelioid blue nevi and Carney complex-associated epithelioid blue nevi. Congenital PEMs have been reported extremely rarely and their prognosis is poorly known. Four-color fluorescent in situ hybridization (FISH) for melanocytic lesions is a recent method developed to assess the malignant potential of ambiguous melanocytic lesions. Here we describe 2 cases of congenital epithelioid and strongly pigmented melanocytic lesions consistent with PEM. No BRAF gene mutation was found in the 2 cases. FISH for melanocytic lesions was also performed. The first case proved entirely negative, whereas the second one showed a positive zone with an extra copy of chromosome 6. The prognosis and management of PEM are discussed, with a review of the available data on the history, demographics, molecular alterations and histopathological aspects of this entity. PEM seems to represent a unique low-grade melanocytic tumor with a limited potential of metastasis to lymph nodes, but a favorable long-term clinical course. The published data about FISH for melanocytic tumors, and especially PEM, are reviewed. Four-color FISH may be a useful tool to assess more accurately the prognosis of these tumors.

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Epithelioid blue nevus: a rare variant of blue nevus not always associated with the Carney complex

Cited by 55 publications

References 14 publications

Loss of Expression of Protein Kinase A Regulatory Subunit 1α in Pigmented Epithelioid Melanocytoma But Not in Melanoma or Other Melanocytic Lesions

Loss of Expression of Protein Kinase A Regulatory Subunit 1α in Pigmented Epithelioid Melanocytoma But Not in Melanoma or Other Melanocytic Lesions

Large Agminated Cellular ‘Plaque-Type' Blue Nevus Surrounding the Ear: A Case and Review

Two Congenital Cases of Pigmented Epithelioid Melanocytoma Studied by Fluorescent in situ Hybridization for Melanocytic Tumors: Case Reports and Review of These Recent Topics

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