Combination treatment of bilateral periocular sebaceous carcinomas with microsatellite instability with neoadjuvant pembrolizumab and Mohs surgery

Woods, Alexander D.; Grushchak, Solomiya; Williams, Kenya; Tan, Alan; Krunic, Aleksandar L.

doi:10.1111/ajd.13919

Cited by 9 publications

(3 citation statements)

References 14 publications

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“…More so, the urothelial cancer was a high grade, pT1 tumour, which is classified as a high-risk tumour that might have benefited from a more radical surgical treat-ment (cystectomy), intravesical Bacillus Calmette-Guerin (BCG) or immunotherapy, especially in the context of MSI-high tumours (17). Also, clinical trial screening and enrolment or off-label medication prescription could have been possible and might have offered her a chance to a targeted treatment (18). Additionally, the option of using PET-CT for follow-up in the context of such frequently re-occurring tumours could have been beneficial.…”

Section: Discussionmentioning

confidence: 99%

Muir-Torre Syndrome: a Long Way to Diagnosis

Turcas¹,

Fetică²,

Nagy³

2023

JMRO

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"Muir-Torre syndrome, a subtype of Lynch syndrome, is a rare genetic disorder. We present the case of a female patient with a long family and personal history who was diagnosed with numerous benign and malignant tumours of various histology, including some with sebaceous features, beginning at the age of 41. The majority were cutaneous tumours, treated with complete resection, but they frequently recurred. Visceral cancers included endocervical adenocarcinoma, vulvar squamous-cell carcinoma and urothelial carcinoma, treated surgically, followed by systemic oncological treatments and external beam radiotherapy. Following a 20-year evolution, extensive genetic blood testing revealed a pathogenic variant in the MSH2 gene, c.1861C>T (p.Arg621*), in heterozygous state. In light of this unusual clinical presentation and molecular profile, the patient was finally diagnosed with Muir-Torre syndrome. The prognosis was poor, with an inoperable recurrence of the urothelial carcinoma and extensive lymph node dissemination of a vulvar squamous cell carcinoma."

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Section: Discussionmentioning

confidence: 99%

Muir-Torre Syndrome: a Long Way to Diagnosis

Turcas¹,

Fetică²,

Nagy³

2023

JMRO

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“…42 By contrast, Woods et al describe a successful use of neoadjuvant pembrolizumab in a patient with large (≥T3b) bilateral PSC associated with MTS, allowing both lesions to shrink by two-thirds of their initial size, making surgery less invasive with smaller postoperative defects and better aesthetic results. 43 In light of these considerations, immunotherapy may be a viable therapeutic option for SC, and further research on this topic should be carried out.…”

Section: Immunotherapy and Targeted Therapymentioning

confidence: 99%

Periocular sebaceous carcinoma: updates in the diagnosis, treatment, staging, and management

Dini,

Susini,

Nisi

et al. 2024

Int J Dermatology

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Periocular sebaceous carcinoma (PSC) is a rare, aggressive, and potentially metastatic adnexal malignancy. Due to the ability of PSC to resemble several benign and malignant conditions, diagnosis is often delayed or mistaken. In addition, even with a known diagnosis, choosing the right treatment is still an open debate. For this reason, we decided to review the most up‐to‐date literature on PSC and propose a dedicated procedural protocol to help clinicians when dealing with PSC. A PubMed search was carried out using the terms “Sebaceous Carcinoma”, “Adnexal Periocular Cancer”, “Sebaceous Carcinoma AND eyelid”, “Periocular Sebaceous Carcinoma”, and “Ocular Adnexa”. Pertinent studies published in English from 1997 up to December 2022 were compared to the selection criteria and if suitable, included in this review. Through the initial search, 84 articles were selected. Of these, 36 were included in the final study. Several papers explored different diagnostic and therapeutic strategies regarding PSC diagnosis and management. In light of the current literature review and the multidisciplinary experience of three clinical centers, a dedicated procedural protocol is proposed. PSC diagnosis may be achieved through accurate clinical evaluation, but it requires histopathologic confirmation, which can be challenging. Dermoscopy, in vivo reflectance confocal microscopy, and optical coherence tomography may facilitate PSC clinical examination, while immunohistochemistry stains may support histological diagnosis. Appropriate disease staging is necessary before choosing the treatment, as local disease requires radically different treatment compared to advanced disease. In addition, recent innovations in nonsurgical treatments, including radio‐chemotherapy, immunotherapy, and targeted therapy, may be a viable option in the most challenging cases.

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“…There is one case report describing use of neoadjuvant pembrolizumab in a patient with Muir-Torre syndrome. The patient received 2 doses of pembrolizumab which resulted in tumor shrinkage to less than 1/3 its original size prior to Mohs surgery ( 107 ). While data is extremely limited on the use of neoadjuvant systemic therapy for periocular SGC, it is reasonable to consider either chemotherapy or immune checkpoint inhibitors prior to surgery.…”

Section: Merkel Cell Carcinomamentioning

confidence: 99%

Review of recent advances in managing periocular skin malignancies

Trotier,

Huang,

van Landingham

et al. 2024

Front. Oncol.

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Management of cutaneous malignancies can be particularly challenging when they are located in the periocular region. The standard of care for localized disease is complete surgical excision, but this may not be possible without significant disruption to visual structures and facial appearance. Definitive radiation may be an option for some patients who cannot or do not wish to undergo surgery. Advances in systemic treatment options for locally advanced and metastatic skin cancers in the past 10 years have prompted investigation into neoadjuvant treatment of periocular cancers. The use of chemotherapy, immune checkpoint inhibitors, and targeted therapies have all been reported with varying degrees of success. For many patients, targeted therapies or immune checkpoint inhibitors should be considered depending on the cancer type, symptoms, and goals with the input of a multidisciplinary cancer care team. In this article, we systematically review the latest updates in surgical, radiotherapeutic, and medical management of periocular malignancies.

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Combination treatment of bilateral periocular sebaceous carcinomas with microsatellite instability with neoadjuvant pembrolizumab and Mohs surgery

Cited by 9 publications

References 14 publications

Muir-Torre Syndrome: a Long Way to Diagnosis

Muir-Torre Syndrome: a Long Way to Diagnosis

Periocular sebaceous carcinoma: updates in the diagnosis, treatment, staging, and management

Review of recent advances in managing periocular skin malignancies

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