Subcutaneous nodule showing loss of BAP1 in large plaque‐type blue nevus: Melanoma or not?

Takashima, Ayaka; Wada, Makoto; Asai, Jun; Takenka, Hideya; Katoh, Norito

doi:10.1111/1346-8138.15591

Cited by 2 publications

(2 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…They commonly present at birth or appear during childhood or adolescence with a slight predilection for females. While the anatomical range is wide, the majority of tumours involve the head and neck area and trunk 4,7,9–22 . A particular predilection for the scalp was observed in this study.…”

Section: Discussionsupporting

confidence: 47%

The clinico‐pathological spectrum of plaque‐type blue naevi and their potential for malignant transformation

Tseng,

Wiedemeyer,

Mehta

et al. 2024

Histopathology

View full text Add to dashboard Cite

AimsPlaque‐type blue naevi are rare melanocytic tumours presenting as large, pigmented plaques at birth or during childhood. There is a risk for malignant transformation, but no larger comprehensive studies exist and the diagnosis is challenging, especially on limited biopsy material. The aim is to describe the clinicopathological features and behaviour of the disease more comprehensively.Methods and resultsWe retrieved eight plaque‐type blue naevi, presenting as large, pigmented plaques (median = 7 cm; range = 3–26) most frequently affecting the scalp (four) followed by the cheek, arm, abdominal wall and gluteal cleft (one each), with a slight female predilection. Median age at time of biopsy was 39.5 years (range = 15–90), but three tumours had been present at birth and one since childhood. Histopathologically, the tumours were poorly circumscribed and composed of cellular fascicles of uniform spindle cells in a background of variably prominent pigmented dendritic cells affecting dermis and subcutaneous tissues. The majority had mutations in GNAQ. One tumour showed malignant transformation, characterised by an expansile nodule of pleomorphic epithelioid melanocytes with rhabdoid morphology, high mitotic activity and areas of necrosis. This patient developed metastatic melanoma to lymph nodes. All patients are alive with a median follow‐up of 60 months.ConclusionPlaque‐type blue naevi are diagnostically challenging tumours with risk for malignant transformation. Awareness and familiarity with the salient clinicopathological features are necessary for reliable diagnosis, and long‐term clinical follow‐up is required to monitor for malignant transformation.

show abstract

Section: Discussionsupporting

confidence: 47%

The clinico‐pathological spectrum of plaque‐type blue naevi and their potential for malignant transformation

Tseng,

Wiedemeyer,

Mehta

et al. 2024

Histopathology

View full text Add to dashboard Cite

show abstract

“…Although a few previous reports have described secondary melanocytic tumors, including melanoma and premelanomatous lesions, arising in plaque-type blue nevus, [8][9][10][11][12][13][14] there is no detailed description of the clinical, radiological, and macroscopic findings of blue nevi involving the mammary tissue. Careful observation of our case revealed that the mammary involvement of the blue nevus can be seen beyond the range of the overlying skin lesion.…”

Section: Discussionmentioning

confidence: 99%

Large Plaque-type Blue Nevus with GNAQ Q209P Mutation, Involving Mammary Gland Tissue: Under-Recognized Mammary Condition as an Origin of Primary Mammary Melanocytic Tumors

Satake

Sudo

Sugino

et al. 2021

The American Journal of Dermatopathology

View full text Add to dashboard Cite

Plaque-type blue nevus is a rare variant of blue nevi that was first described in 1954. This article presents clinical, macroscopic, histopathological, and genetic findings for a case of large plaque-type blue nevus expanding into the mammary gland tissue as well as the skin of the right breast. A 63-year-old woman presented with a congenital, large, blue-colored macule limited to the hypochondriac area of the right breast. A nodule 8 mm in diameter was also present in the mammary gland tissue. Magnetic resonance imaging was unable to detect diffuse melanin deposition in the mammary gland tissue, but pigmentation in the whole mammary parenchyma was observed in the cut surfaces of the mastectomy specimen. Histopathology revealed a sparse distribution of dendritic melanocytes in whole sections of the mammary fibrous tissue and partial sections of the dermis. The histopathological criteria for atypical cellular blue nevus were fulfilled for the mammary tumor. Nodal blue nevus was diagnosed in the sentinel lymph node. Sanger sequencing confirmed the GNAQ Q209P mutation, which was also identified in all 4 literature cases of plaque-type blue nevus, but rarely in conventional blue nevi and uveal melanoma. It should be noted that plaque-type blue nevus can expand into the mammary gland tissue, even if the pigmented lesion does not exist on the overlying breast skin. The mammary condition can be the origin of primary mammary melanocytic tumors. Mosaicism of the GNAQ Q209P mutation can be a characteristic genetic alteration to extensive blue nevi, including plaque-type blue nevus.

show abstract

Subcutaneous nodule showing loss of BAP1 in large plaque‐type blue nevus: Melanoma or not?

Cited by 2 publications

References 5 publications

The clinico‐pathological spectrum of plaque‐type blue naevi and their potential for malignant transformation

The clinico‐pathological spectrum of plaque‐type blue naevi and their potential for malignant transformation

Large Plaque-type Blue Nevus with GNAQ Q209P Mutation, Involving Mammary Gland Tissue: Under-Recognized Mammary Condition as an Origin of Primary Mammary Melanocytic Tumors

Contact Info

Product

Resources

About