ArticleCancer medicine2020
Comparison of the biomarkers for targeted therapies in primary extra-mammary and mammary Paget's disease.
Article in Cancer medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- The prevalence of the AR-V7 variant and its association with clinicopathologic characteristics in non-prostatic cancers-a systematic review.Carcinogenesis · 2026Pooled it
- The mechanism of malignant progression in extramammary Paget's disease (EMPD): hallmarks of EMPD.Medical molecular morphology · 2026Review
- Management of Extramammary Paget Disease of the Male Genital Region: A Narrative Review and Two Case Reports.Journal of clinical medicine · 2026Review
- Identification of two genes associated with recurrence in Paget's disease and construction of a predictive model.Frontiers in genetics · 2026Article
- Trastuzumab deruxtecan treatment for HER2-low metastatic scrotal extramammary Paget's disease with bone marrow involvement: a case report.Frontiers in oncology · 2026Article
- Case Report: HER2-positive vulvar Paget disease achieving long-term control with trastuzumab-based systemic therapy plus radiotherapy.Frontiers in medicine · 2026Article
- Clinical subtypes and prognosis of invasive breast cancer with Paget's disease: a SEER study.Breast cancer research and treatment · 2025Article
- Anal adenocarcinoma with perianal Paget's disease: A case report.World journal of gastrointestinal surgery · 2025Article
- Insights Into Mammary and Extramammary Paget's Disease: Diagnosis, Management, and Recent Advances.Cureus · 2025Review
- Immunotherapy may be more appropriate for ERBB2 low-expressing extramammary paget's disease patients: a prognosis analysis and exploration of targeted therapy and immunotherapy of extramammary paget's disease patients.Cancer immunology, immunotherapy : CII · 2024Article
- Whole genome sequencing of HER2-positive metastatic extramammary Paget's disease: a case report.Orphanet journal of rare diseases · 2024Article
- Glypican-3 Differentiates Intraductal Carcinoma and Paget's Disease from Other Types of Breast Cancer.Medicina (Kaunas, Lithuania) · 2022Article
- Screening and Validation of Significant Genes with Poor Prognosis in Pathologic Stage-I Lung Adenocarcinoma.Journal of oncology · 2022Article
- TERT Gene Fusions Characterize a Subset of Metastatic Leydig Cell Tumors.Clinical genitourinary cancer · 2021Article
- Article
- Is There a Place for Immune Checkpoint Inhibitors in Vulvar Neoplasms? A State of the Art Review.International journal of molecular sciences · 2020Review
- Article
- Hormonal Environment and HER2 Status in Extra-Mammary Paget's Disease (eMPD): A Systematic Literature Review and Meta-Analysis with Clinical Considerations.Diagnostics (Basel, Switzerland) · 2020Review
- Crosstalk between HER2 and PD-1/PD-L1 in Breast Cancer: From Clinical Applications to Mathematical Models.Cancers · 2020Review
- Comparison of the biomarkers for targeted therapies in primary extra-mammary and mammary Paget's disease.Cancer medicine · 2020Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary Extra-mammary Paget's disease (EMPD) is a very rare cutaneous adenocarcinoma affecting anogenital or axillary regions. It is characterized by a prolonged course with recurrences and eventually distant metastatic spread for which no specific therapy is known.
methodsEighteen EMPD (13 vulvar and five scrotal) and ten mammary Paget's disease (MPD) cases were comprehensively profiled for gene mutations, fusions and copy number alterations, and for therapy-relevant protein biomarkers).
resultsMutations in TP53 and PIK3CA were the most frequent in both cohorts: 7/15 and 5/15 in EMPD; 1/6 and 4/7 in MPD HER2 gene amplification was detected in 4/18 EMPD (3 vulvar and 1 scrotal case) in contrast to MPD where it was detected in the majority (7/8) of cases. TOP2A gene amplification was seen in 2/12 EMPD and 1/6 MPD, respectively. Similarly, no difference in estrogen receptor expression was seen between the EMPD (4/15) and MPD (3/10). Androgen receptor was also expressed in the majority of both cohorts (12/16 EMPD) and (7/8 MPD).Here ARv7 splice variant was detected in 1/7 EMPD and 1/4 MPD cases, respectively. PD-L1 expression on immune cells was exclusively observed in three vulvar EMPD. In contrast to MPD, six EMPDs harbored a "high" tumor mutation burden (≥10 mutations/Mb). All tested cases from both cohorts were MSI stable.
conclusionsEMPD shares some targetable biomarkers with its mammary counterpart (steroid receptors, PIK3CA signaling pathways, TOP2A amplification). HER2 positivity is notably lower in EMPD while biomarkers to immune checkpoint inhibitors (high TMB and PD-L1) were observed in some EMPD. Given that no consistent molecular alteration characterizes EMPD, comprehensive theranostic profiling is required to identify individual patients with targetable molecular alterations.
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