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恶性神经嵴错构瘤:一种与传统黑色素瘤和恶性蓝痣不同的肿瘤。

Malignant neurocristic hamartoma: a tumor distinct from conventional melanoma and malignant blue nevus.

机构信息

Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.

出版信息

Am J Surg Pathol. 2011 Oct;35(10):1570-7. doi: 10.1097/PAS.0b013e31822389b7.

DOI:10.1097/PAS.0b013e31822389b7
PMID:21934481
Abstract

Neurocristic hamartomas are rare pigmented lesions comprised of melanocytes, Schwann cells, and pigmented dendritic spindle cells that involve the skin and soft tissue. Malignant transformation can rarely arise within neurocristic hamartomas. Up to date, there has been only 1 series of 7 cases of malignant neurocristic hamartomas (MNHs), with 3 cases that developed metastases. We present the histology and clinical course of 3 additional cases of MNH, 2 of which were metastatic. CD117 was strongly positive in all cases with available archival materials--the tumors and background neurocristic hamartoma of 3 cases, and 1 lymph node metastasis; however, KIT sequencing for exons 11, 13, 17, and 18 was negative. Mutational analyses of recurrent mutations of 17 cancer genes, including BRAF and KIT, were also negative. Although our series is small, KIT overexpression in MNH does not seem to correlate with gene mutation. The lack of BRAF, NRAS, GNAQ, and KIT mutations seems to support the notion that MNH may be distinct from conventional melanoma and from other dermal melanomas, such as malignant blue nevi and melanoma arising in congenital nevi.

摘要

神经嵴错构瘤是一种罕见的含黑素细胞、雪旺细胞和色素性梭形树枝状细胞的色素性病变,可累及皮肤和软组织。神经嵴错构瘤很少发生恶性转化。迄今为止,仅有 1 组 7 例恶性神经嵴错构瘤(MNH)的报道,其中 3 例发生转移。我们报告了另外 3 例 MNH 的组织学和临床过程,其中 2 例发生了转移。在有存档材料的 3 例肿瘤和背景神经嵴错构瘤,以及 1 例淋巴结转移中,所有病例的 CD117 均强阳性;然而,对 11、13、17 和 18 外显子的 KIT 测序均为阴性。包括 BRAF 和 KIT 在内的 17 个癌症基因的复发突变的分析也为阴性。尽管我们的系列较小,但 MNH 中 KIT 的过表达似乎与基因突变无关。缺乏 BRAF、NRAS、GNAQ 和 KIT 突变似乎支持这样一种观点,即 MNH 可能与传统黑色素瘤以及其他真皮黑色素瘤(如恶性蓝痣和先天性痣中发生的黑色素瘤)不同。

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引用本文的文献

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Congenital Melanocytic Nevus with Neurocristic Cutaneous Hamartoma: A Case Report.先天性黑素细胞痣合并神经嵴皮肤错构瘤:一例报告
Dermatopathology (Basel). 2025 Apr 10;12(2):12. doi: 10.3390/dermatopathology12020012.
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Malignant Cutaneous Neurocristic Hamartoma With Features of Melanoma: A Rare Entity.具有黑色素瘤特征的恶性皮肤神经嵴错构瘤:一种罕见实体。
Cureus. 2024 Sep 17;16(9):e69594. doi: 10.7759/cureus.69594. eCollection 2024 Sep.
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Dermoscopy of Cutaneous Neurocristic Hamartoma and Report of its Rare Clinical Presentation.
皮肤神经嵴错构瘤的皮肤镜检查及其罕见临床表现报告
Dermatol Pract Concept. 2022 Jul 1;12(3):e2022138. doi: 10.5826/dpc.1203a138. eCollection 2022 Jul.