Primary Eccrine Porocarcinoma of the Thumb With Metastasis

Eccrine porocarcinoma is a rare malignant cutaneous tumor with high rates of extracutaneous spread, and its diagnosis and management can be quite challenging. This is a case of an 82-year-old woman presenting with an asymptomatic and chronic pubic skin lesion for whom the work-up required many investigations and procedures to confirm the diagnosis of metastatic eccrine porocarcinoma. Indeed, the patient underwent a wide local excision of the skin lesion, imaging with an FDG-PET scan, a colonoscopy, and two inguinal node dissections. As illustrated in this case, surgery should always be considered to achieve disease remission. Other treatments such as chemotherapy and radiotherapy have also been reported in the literature without clear standard guidelines.

Download Full-text

Intergluteal Cleft Eccrine Porocarcinoma with Metastasis to Inguinal Region and Lung: Case Report and Review of the Literature

Case Reports in Oncology ◽

10.1159/000510311 ◽

2020 ◽

Vol 13 (3) ◽

pp. 1463-1473

Author(s):

Ricardo Fernández-Ferreira ◽

Gabriela Alvarado-Luna ◽

Daniel Motola-Kuba ◽

Ileana Mackinney-Novelo ◽

Eduardo Emir Cervera-Ceballos ◽

...

Keyword(s):

Medical Literature ◽

Primary Treatment ◽

Skin Tumor ◽

Inguinal Region ◽

Pertinent Literature ◽

Rare Type ◽

Localized Disease ◽

Histological Confirmation ◽

Eccrine Porocarcinoma ◽

Left Inguinal Region

Eccrine porocarcinoma (EPC) is an infrequent cutaneous neoplasm, and was described in 1963 by Pinkus and Mehregan. It is a rare type of skin tumor (0.005–0.01% of all skin tumors). Less than 300 cases have been described in the entire world medical literature. To our knowledge, no case of intergluteal cleft EPC has been reported in the literature in English and Spanish to date, so this would be the first reported case of such pathology. Metastatic EPC is less frequent, since only <10% of metastatic type have been reported and the rest as localized disease. The primary treatment of choice is surgical wide local excision of the tumor with histological confirmation of tumor-free margins. Prognosis is difficult to determine because of the rarity of EPC and the variations in natural history. There are no data to support the use of adjuvant chemotherapy or radiotherapy, and there are currently no agreed criteria to define patients at high risk of relapse. We present a 67-year-old man with intergluteal cleft eccrine tumor by biopsy. Metastasis to left inguinal region and lung was reported by contrasted abdominal and chest computed tomography. He started chemotherapy based on etoposide, vincristine, carboplatin. A review of pertinent literature is provided.

Download Full-text

Resolution of Metastatic Subungal Eccrine Porocarcinoma Treated with Intralesional Interleukin-2

Current Oncology ◽

10.3390/curroncol28010024 ◽

2020 ◽

Vol 28 (1) ◽

pp. 220-225

Author(s):

Ashley Drohan ◽

Jennifer Melvin ◽

Joanne Murphy ◽

Carman Giacomantonio ◽

Lucy Helyer

Keyword(s):

Interleukin 2 ◽

Standard Of Care ◽

Surgical Excision ◽

Distant Recurrence ◽

Unique Case ◽

Cutaneous Malignancy ◽

Complete Surgical Excision ◽

Locally Recurrent ◽

Eccrine Porocarcinoma

Eccrine porocarcinoma is a rare aggressive cutaneous malignancy. Complete surgical excision is the standard of care, although there are high rates of local and distant recurrence. We present a unique case of locally recurrent and metastatic subungal porocarcinoma successfully treated with intralesional interleukin-2.

Download Full-text

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies

Cancer Gene Therapy ◽

10.1038/s41417-021-00347-z ◽

2021 ◽

Author(s):

Evgeniya Denisova ◽

Dana Westphal ◽

Harald M. Surowy ◽

Friedegund Meier ◽

Barbara Hutter ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Strand Break ◽

Double Strand Break ◽

Double Strand Break Repair ◽

Surrounding Tissue ◽

Whole Exome ◽

Brca2 Protein ◽

Break Repair ◽

Eccrine Porocarcinoma

AbstractMalignant sweat gland tumours are rare, with the most common form being Eccrine porocarcinoma (EP). To investigate the mutational landscape of EP, we performed whole-exome sequencing (WES) on 14 formalin-fixed paraffin-embedded samples of matched primary EP and healthy surrounding tissue. Mutational profiling revealed a high overall median mutation rate. This was attributed to signatures of mutational processes related to ultraviolet (UV) exposure, APOBEC enzyme dysregulation, and defective homologous double-strand break repair. All of these processes cause genomic instability and are implicated in carcinogenesis. Recurrent driving somatic alterations were detected in the EP candidate drivers TP53, FAT2, CACNA1S, and KMT2D. The analyses also identified copy number alterations and recurrent gains and losses in several chromosomal regions including that containing BRCA2, as well as deleterious alterations in multiple HRR components. In accordance with this reduced or even a complete loss of BRCA2 protein expression was detected in 50% of the investigated EP tumours. Our results implicate crucial oncogenic driver pathways and suggest that defective homologous double-strand break repair and the p53 pathway are involved in EP aetiology. Targeting of the p53 axis and PARP inhibition, and/or immunotherapy may represent promising treatment strategies.

Download Full-text