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

Aims Plaque‐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...

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Veröffentlicht in:Histopathology 2024-05, Vol.84 (6), p.1047-1055
Hauptverfasser: Tseng, Calvin, Wiedemeyer, Katharina, Mehta, Arjun, Rojas‐Garcia, Priscila, Temple‐Oberle, Claire, Orlando, Antonio, Miller, Keith, Gharpuray‐Pandit, Deepa, Brenn, Thomas
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container_end_page 1055
container_issue 6
container_start_page 1047
container_title Histopathology
container_volume 84
creator Tseng, Calvin
Wiedemeyer, Katharina
Mehta, Arjun
Rojas‐Garcia, Priscila
Temple‐Oberle, Claire
Orlando, Antonio
Miller, Keith
Gharpuray‐Pandit, Deepa
Brenn, Thomas
description Aims Plaque‐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 results We 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. Conclusion Plaque‐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. Plaque‐type blue naevi are rare melanocytic tumours in the spectrum of blue naevi, presenting during childhood as large, pigmented plaques with a predilection for the head and neck and trunk. They may undergo malignant transformation, characterised by epithelioid cell morphology, nuclear pleomorphism, high mitotic rate and necrosis, and patients require life‐long clinical follow‐up.
doi_str_mv 10.1111/his.15152
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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 results We 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. Conclusion Plaque‐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. Plaque‐type blue naevi are rare melanocytic tumours in the spectrum of blue naevi, presenting during childhood as large, pigmented plaques with a predilection for the head and neck and trunk. They may undergo malignant transformation, characterised by epithelioid cell morphology, nuclear pleomorphism, high mitotic rate and necrosis, and patients require life‐long clinical follow‐up.</description><identifier>ISSN: 0309-0167</identifier><identifier>EISSN: 1365-2559</identifier><identifier>DOI: 10.1111/his.15152</identifier><identifier>PMID: 38305122</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>Abdominal wall ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Biopsy ; Children ; congenital naevus ; Dendritic cells ; Dermis ; Diagnosis ; Familiarity ; Female ; Genetic transformation ; GNAQ mutation ; Humans ; Infant, Newborn ; Lymph nodes ; malignant blue naevus ; Melanocytes ; Melanocytes - pathology ; Melanoma ; Melanoma - pathology ; Metastases ; Middle Aged ; Nevus, Blue - diagnosis ; Nevus, Blue - pathology ; Nevus, Pigmented - pathology ; Plaques ; plaque‐type blue naevus ; Skin Neoplasms - diagnosis ; Skin Neoplasms - pathology ; Tumors ; Young Adult</subject><ispartof>Histopathology, 2024-05, Vol.84 (6), p.1047-1055</ispartof><rights>2024 The Author(s). Histopathology published by John Wiley &amp; Sons Ltd.</rights><rights>2024 John Wiley &amp; Sons Ltd.</rights><rights>2024. This article is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3482-16a059673b1625706a72f355db1b11c31f5dae2fe66e4a6e4bf6f1a47e753b013</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fhis.15152$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fhis.15152$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>314,780,784,1416,27922,27923,45572,45573</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38305122$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tseng, Calvin</creatorcontrib><creatorcontrib>Wiedemeyer, Katharina</creatorcontrib><creatorcontrib>Mehta, Arjun</creatorcontrib><creatorcontrib>Rojas‐Garcia, Priscila</creatorcontrib><creatorcontrib>Temple‐Oberle, Claire</creatorcontrib><creatorcontrib>Orlando, Antonio</creatorcontrib><creatorcontrib>Miller, Keith</creatorcontrib><creatorcontrib>Gharpuray‐Pandit, Deepa</creatorcontrib><creatorcontrib>Brenn, Thomas</creatorcontrib><title>The clinico‐pathological spectrum of plaque‐type blue naevi and their potential for malignant transformation</title><title>Histopathology</title><addtitle>Histopathology</addtitle><description>Aims Plaque‐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 results We 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. Conclusion Plaque‐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. Plaque‐type blue naevi are rare melanocytic tumours in the spectrum of blue naevi, presenting during childhood as large, pigmented plaques with a predilection for the head and neck and trunk. 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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 results We 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. Conclusion Plaque‐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. Plaque‐type blue naevi are rare melanocytic tumours in the spectrum of blue naevi, presenting during childhood as large, pigmented plaques with a predilection for the head and neck and trunk. They may undergo malignant transformation, characterised by epithelioid cell morphology, nuclear pleomorphism, high mitotic rate and necrosis, and patients require life‐long clinical follow‐up.</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>38305122</pmid><doi>10.1111/his.15152</doi><tpages>1055</tpages><oa>free_for_read</oa></addata></record>
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subjects Abdominal wall
Adolescent
Adult
Aged
Aged, 80 and over
Biopsy
Children
congenital naevus
Dendritic cells
Dermis
Diagnosis
Familiarity
Female
Genetic transformation
GNAQ mutation
Humans
Infant, Newborn
Lymph nodes
malignant blue naevus
Melanocytes
Melanocytes - pathology
Melanoma
Melanoma - pathology
Metastases
Middle Aged
Nevus, Blue - diagnosis
Nevus, Blue - pathology
Nevus, Pigmented - pathology
Plaques
plaque‐type blue naevus
Skin Neoplasms - diagnosis
Skin Neoplasms - pathology
Tumors
Young Adult
title The clinico‐pathological spectrum of plaque‐type blue naevi and their potential for malignant transformation
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