Clinicopathological study of blue nevi of the gastrointestinal (GI) tract: first case series

Assarzadegan, Naziheh; Salimian, Kevan J.; Hutchings, Danielle; Windon, Annika; Voltaggio, Lysandra; Montgomery, Elizabeth A.

doi:10.1136/jclinpath-2020-206757

Cited by 2 publications

(4 citation statements)

References 22 publications

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“…It is known that blue nevi can be seen in deeper tissues, including the oral cavity, esophagus, colon, bronchus, vagina, uterine cervix, and prostate. [15][16][17][18][19][20] The combination of cutaneous and ocular blue nevi is well known as the nevus of Ota. Meningeal blue nevi have also been reported as combination partners of cutaneous blue nevi.…”

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

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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.

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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

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“…[31][32] One possibility is that defects in migration of neural crest precursors account for the existence of extracutaneous blue naevi. This could help to explain the presence of extracutaneous blue naevi in a wide range of anatomical locations, [7][8][9][10][11][12] and could even account for cutaneous blue naevi, which would represent the least dramatic end of the spectrum. Acquisition of the characteristic mutations early in development might even cause or contribute to the migratory defect through dysregulation of cellular function.…”

Section: A E T I Omentioning

confidence: 99%

“…3 In addition to skin, blue naevi may arise at other anatomical sites, including oral cavity, oesophagus, gastrointestinal tract, uterus, prostate and others. [7][8][9][10][11][12] Recently, two cases of melanoma arising in intraabdominal blue naevus were reported, 13 suggesting that melanoma may arise in blue naevus regardless of its anatomical location. Here we report two additional cases of melanoma arising in extracutaneous blue naevus, and directly compare their molecular features to a cohort of five melanomas arising in cutaneous blue naevus as well as six uveal melanomas.…”

Section: Introductionmentioning

confidence: 99%

“…In addition to skin, blue naevi may arise at other anatomical sites, including oral cavity, oesophagus, gastrointestinal tract, uterus, prostate and others 7–12 . Recently, two cases of melanoma arising in intra‐abdominal blue naevus were reported, 13 suggesting that melanoma may arise in blue naevus regardless of its anatomical location.…”

Section: Introductionmentioning

confidence: 99%

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Melanoma arising in extracutaneous cellular blue naevus: report of two cases with comparison to cutaneous counterparts and uveal melanoma

Russell‐Goldman

Yoon

et al. 2022

Histopathology

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Aims Blue naevi are benign melanocytic lesions that typically occur in the dermis. Melanoma arising in blue naevus is rare, and shows a molecular profile distinct from conventional forms of cutaneous melanoma and more similar to uveal melanoma and central nervous system (CNS) melanocytomas. In contrast to conventional cutaneous melanoma, these tumour types typically show activating driver mutations in GNAQ or GNA11, a low mutational burden without evidence of a UV signature and a reproducible pattern of chromosomal copy number changes. Blue naevi can also occur at extracutaneous sites. Here we report two cases of melanoma arising in extracutaneous blue naevus and compare their molecular features to cohorts of melanoma arising in cutaneous blue naevus (five patients) and uveal melanoma (six patients). Methods and results We describe the clinical, histomorphological, immunohistochemical and molecular findings in these two cases of melanoma arising in extracutaneous blue naevus. We compare their molecular profiles to melanomas arising in cutaneous blue naevus and uveal melanoma using a targeted next‐generation DNA sequencing platform and find striking similarities between all three groups. Conclusions The close relationship between blue naevus‐associated melanomas, regardless of their anatomical site, supports and validates the concept of melanoma arising in extracutaneous blue naevus and suggests that the two groups share common pathogenic mechanisms. The similarity of both groups to uveal melanoma in turn supports the close relationship between blue naevus‐associated melanoma, uveal melanoma and CNS melanocytoma, and their distinction from conventional UV‐associated melanoma. These findings have important implications for prognosis and therapy.

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Clinicopathological study of blue nevi of the gastrointestinal (GI) tract: first case series

Cited by 2 publications

References 22 publications

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

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

Melanoma arising in extracutaneous cellular blue naevus: report of two cases with comparison to cutaneous counterparts and uveal melanoma

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