Metastatic Microcystic Adnexal Carcinoma with DNA Sequencing Results and Response to Systemic Antineoplastic Chemotherapy

Chen, Min-Bin; Laber, Damian A.

doi:10.21873/anticanres.11929

Cited by 10 publications

(8 citation statements)

References 5 publications

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“…The same study reported inactivating TP53 mutations and frame-preserving indel mutations located in the kinase domain of JAK1, copy number alterations with gain of JAK2, MAF, MAFB, JUN, or FGFR1, and loss of CDKN2A. These data were consistent with another study in which sequencing indicated a mutation of TP53 with loss of CDKN2A and CDKN2B in metastatic MAC [74]. Another study reported that, unlike basal cell carcinoma, Hedgehog signaling was not significantly altered in MAC [75].…”

Section: Microcystic Adnexal Carcinomasupporting

confidence: 79%

Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors

Macagno

Sohier

Kervarrec

et al. 2022

Cancers

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Cutaneous sweat gland tumors are a subset of adnexal neoplasms that derive or differentiate into the sweat apparatus. Their great diversity, rarity, and complex terminology make their pathological diagnosis challenging. Recent findings have revealed a wide spectrum of oncogenic drivers, several of which are of diagnostic interest for pathologists. Most of these molecular alterations are represented by gene fusions, which are shared with other homologous neoplasms occurring in organs containing exocrine glands, such as salivary and breast glands, which show similarities to the sweat apparatus. This review aims to provide a synthesis of the most recent immunohistochemical and molecular markers used for the diagnosis of sweat gland tumors and to highlight their relationship with similar tumors in other organs. It will cover adenoid cystic carcinoma (NFIB, MYB, and MYBL1 fusion), cutaneous mixed tumor (PLAG1 fusion), cylindroma and spiradenoma and their carcinomas thereof (NF-κB activation through CYLD inactivation or ALKP1 hotspot mutation), hidradenoma and hidradenocarcinoma (MAML2 fusion), myoepithelioma (EWSR1 and FUS fusion), poroma and porocarcinoma (YAP1, MAML2, and NUTM1 fusion), secretory carcinoma (ETV6, NTRK3 fusion), tubular adenoma and syringo-cystadenoma papilliferum (HRAS and BRAF activating mutations). Sweat gland tumors for which there are no known molecular abnormalities will also be briefly discussed, as well as potential future developments.

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Section: Microcystic Adnexal Carcinomasupporting

confidence: 79%

Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors

Macagno

Sohier

Kervarrec

et al. 2022

Cancers

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“…Recently, two studies proposed special molecular markers for MAC by systematically analyzing genetic changes through high-throughput sequencing at the DNA level. Chen et al demonstrated that TP53 mutations and chromosomal deletion of CDKN2A and CDKN2B existed in a metastatic MAC of a 68-year-old man [ 9 ]. There has been no study on the protein expression of p16 (which is encoded by CDKN2A ) in MAC.…”

Section: Discussionmentioning

confidence: 99%

“…Two studies revealed DNA changes by next-generation sequencing. Chen et al revealed TP53 mutations and chromosomal loss in cyclin-dependent kinase inhibitor 2A ( CDKN2A ) and cyclin-dependent kinase inhibitor 2B ( CDKN2B ) in a metastatic MAC case [ 9 ]. Chan et al demonstrated that inactivated TP53 or activated JAK/STAT signaling pathways play important roles in MAC [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Four calcium signaling pathway-related genes were upregulated in microcystic adnexal carcinoma: transcriptome analysis and immunohistochemical validation

Wang

Tang

et al. 2022

World J Surg Onc

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Background Microcystic adnexal carcinoma (MAC) is a skin cancer with challenges in diagnosis and management. This study was aimed to detect molecular alterations of MAC and guide its pathologic diagnosis and treatment. Methods We performed transcriptome analysis on 5 MAC and 5 normal skin tissues, identified the differentially expressed genes, and verified them by immunohistochemistry. Results Three hundred four differentially expressed genes (DEGs) in MAC were identified by next-generation transcriptome sequencing, among which 225 genes were upregulated and 79 genes were downregulated. Four genes of the calcium signaling pathway, including calcium voltage-gated channel subunit alpha 1 S (CACNA1S), ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 (ATP2A1), ryanodine receptor 1 (RYR1), and myosin light chain kinase 3 (MYLK3), were upregulated and then been verified by immunohistochemistry. The expression of CACNA1S, ATP2A1, RYR1, and MYLK3 was upregulated in MAC compared with normal sweat glands and syringoma tumor cells and was generally negative in trichoepithelioma and infundibulocystic type basal cell carcinoma. Conclusions The four genes of the calcium signaling pathway were upregulated in MAC at both RNA and protein levels. CACNA1S, ATP2A1, RYR1, and MYLK3 may be new diagnostic molecular markers and therapeutic targets for MAC.

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“…In the case reported, treatment was delivered over 7 weeks, including 70 Gy of intensity-modulated RT over 35 fractions to the primary site and 4 cycles of concomitant weekly carboplatin (area under the curve 1.5) and paclitaxel (30 mg/m 2 ), as carboplatin/paclitaxel have activity and act as a radio-sensitizer in head and neck cancers [ 50 ]. A recent single-institution retrospective study based on 53 cases demonstrated that the risk of recurrence increased by 11% per 1 cm 2 increase in tumor size [ 51 ].…”

Section: Tumors With Apocrine and Eccrine Differentiationmentioning

confidence: 99%

Current Diagnosis and Treatment Options for Cutaneous Adnexal Neoplasms with Apocrine and Eccrine Differentiation

Płachta

Kleibert

Czarnecka

et al. 2021

IJMS

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Adnexal tumors of the skin are a rare group of benign and malignant neoplasms that exhibit morphological differentiation toward one or more of the adnexal epithelium types present in normal skin. Tumors deriving from apocrine or eccrine glands are highly heterogeneous and represent various histological entities. Macroscopic and dermatoscopic features of these tumors are unspecific; therefore, a specialized pathological examination is required to correctly diagnose patients. Limited treatment guidelines of adnexal tumor cases are available; thus, therapy is still challenging. Patients should be referred to high-volume skin cancer centers to receive an appropriate multidisciplinary treatment, affecting their outcome. The purpose of this review is to summarize currently available data on pathogenesis, diagnosis, and treatment approach for apocrine and eccrine tumors.

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Metastatic Microcystic Adnexal Carcinoma with DNA Sequencing Results and Response to Systemic Antineoplastic Chemotherapy

Cited by 10 publications

References 5 publications

Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors

Recent Advances on Immunohistochemistry and Molecular Biology for the Diagnosis of Adnexal Sweat Gland Tumors

Four calcium signaling pathway-related genes were upregulated in microcystic adnexal carcinoma: transcriptome analysis and immunohistochemical validation

Current Diagnosis and Treatment Options for Cutaneous Adnexal Neoplasms with Apocrine and Eccrine Differentiation

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