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Urologia Internationalis 2024Extramammary Paget's disease of the scrotum and penis is a relatively rare cutaneous malignant tumor. At present, its pathogenesis, and clinical and pathological... (Review)
Review
INTRODUCTION
Extramammary Paget's disease of the scrotum and penis is a relatively rare cutaneous malignant tumor. At present, its pathogenesis, and clinical and pathological characteristics are not very clear. This is controversial regarding surgical margin width to decrease the high recurrence rate. This paper aimed to report the case and review the literature of extramammary Paget's disease of scrotum and penis.
CASE PRESENTATION
We presented the case of a 74-year-old male patient with the patchy erythema and pruritus in the perineum who was admitted to our department. Biopsy of the large plaque revealed Paget disease. Under the condition of ensuring negative surgical margins by rapid frozen pathology, a wide local excision of the lesion, bilateral orchiectomy, and adnexectomy were performed on the patient. Pathology revealed that many scattered vacuolated Paget cells were observed in the epidermal layer, and the diagnosis was Paget's disease of the scrotum and penis. The 2 cm outside the skin lesion was used as the initial surgical margin, and free skin flap transplantation was used to repair the surgical wound. The patient recovered well and was discharged 1 week after surgery.
CONCLUSION
Currently, histopathologic biopsy is the most important diagnostic method for EMPD. Once confirmed, for patients eligible for surgical intervention, wide local excision of the lesion and rapid intraoperative frozen pathological examination should be performed as soon as possible. The skin flap transplantation is the first choice for the repair of large-scale wound after surgery.
Topics: Humans; Male; Paget Disease, Extramammary; Scrotum; Aged; Penile Neoplasms; Genital Neoplasms, Male; Biopsy; Treatment Outcome
PubMed: 38368870
DOI: 10.1159/000536654 -
World Journal of Surgical Oncology Feb 2024Penile squamous cell carcinoma (PSCC) is a highly aggressive malignancy with a poor prognosis. BRCA1/2 mutations are associated with impaired DNA double-strand break...
BACKGROUND
Penile squamous cell carcinoma (PSCC) is a highly aggressive malignancy with a poor prognosis. BRCA1/2 mutations are associated with impaired DNA double-strand break repair and are among the common mutations in penile cancer, potentially paving the way for poly ADP-ribose polymerase inhibitor therapy.
CASE PRESENTATION
We report a 65-year-old male with PSCC who progressed to thigh metastasis at 10 months after partial penectomy. Next-generation sequencing showed that the penis primary lesion and metastatic thigh lesion harboured a BRCA2 mutation. Chemotherapy plus immunotherapy was used for treatment, and the thigh metastasis was found to involve no tumour. Progression-free survival (PFS) lasted for 8 months until the appearance of lung metastasis. Afterwards, the patient benefited from second-line therapy of olaparib with pembrolizumab and anlotinib, and his disease was stable for 9 months. The same BRCA2 was identified in the lung biopsy. Given the tumour mutation burden (TMB, 13.97 mutation/Mb), the patient received third-line therapy with nivolumab plus ipilimumab, but PFS only lasted for 3 months, with the appearance of right frontal brain metastasis. Then, the patient was treated with radiation sequential fluzoparib therapy as fourth-line treatment, and the treatment efficacy was evaluated as PR. Currently, this patient is still alive.
CONCLUSIONS
This is the first report of penile cancer with BRCA2 mutation, receiving a combination treatment with olaparib and experiencing a benefit for 9 months. This case underscores the pivotal role of BRCA2 in influencing treatment response in PSCC, providing valuable insights into the application of targeted therapies in managing recurrent PSCC with BRCA2 alterations. This elucidation establishes a crucial foundation for further research and clinical considerations in similar cases.
Topics: Male; Humans; Aged; BRCA1 Protein; Penile Neoplasms; BRCA2 Protein; Neoplasm Recurrence, Local; Carcinoma, Squamous Cell; Mutation
PubMed: 38336701
DOI: 10.1186/s12957-024-03305-9 -
Photodiagnosis and Photodynamic Therapy Feb 2024Condyloma acuminatum is a common sexually transmitted disease caused by human papillomavirus infection and is a benign hyperplastic lesion of the genital and perianal...
Condyloma acuminatum is a common sexually transmitted disease caused by human papillomavirus infection and is a benign hyperplastic lesion of the genital and perianal areas. The principle of its treatment is to remove the visible warts as much as possible and to prevent recurrence. Traditional treatment methods of condyloma acuminatum, such as CO laser, liquid nitrogen freezing, surgery, and topical medications, can remove warts. However, these methods have disadvantages such as pain, high recurrence rates, long treatment cycles, and scarring. Aminolevulinic acid/photodynamic therapy (ALA-PDT), a safe and effective method, has been widely used to treat condyloma acuminatum in recent years. Condyloma acuminatum occurs relatively rarely in elderly patients, in whom treatment is difficult owing to poorer physiological function. We successfully treated an 87-year-old patient with a giant condyloma acuminatum of the glans penis using six sessions of ALA-PDT at 7-day intervals and obtained satisfactory results. No recurrence was observed during a 6-month follow-up. Therefore, ALA-PDT is worth popularizing in clinical practice.
Topics: Male; Humans; Aged; Aged, 80 and over; Aminolevulinic Acid; Photochemotherapy; Photosensitizing Agents; Buschke-Lowenstein Tumor; Condylomata Acuminata; Papillomaviridae
PubMed: 38242187
DOI: 10.1016/j.pdpdt.2024.103980 -
Cureus Dec 2023Penile metastases from urothelial carcinoma are rare (1-8%). They most often (65%) occur within 18 months of diagnosis of the primary lesion and their prognosis is poor,...
Penile metastases from urothelial carcinoma are rare (1-8%). They most often (65%) occur within 18 months of diagnosis of the primary lesion and their prognosis is poor, with survival rarely exceeding 20 months. Treatment of cavernous metastases is multidisciplinary. The best results in terms of overall survival have been obtained with amputation of the penis combined with chemotherapy. We present a case of a 62-year-old male who presented with a metastasis of the penis. This was confirmed by MRI and biopsy, which confirmed the urothelial origin of the metastasis. The patient had undergone radical cystoprostatectomy for an invasive bladder tumor six months earlier. The patient died 10 days after the biopsy due to a significant deterioration in his general condition and the onset of consciousness disorders.
PubMed: 38239540
DOI: 10.7759/cureus.50767 -
Asian Journal of Surgery Apr 2024
Review
Topics: Humans; Female; Urethra; Adenocarcinoma, Clear Cell; Abdomen
PubMed: 38220522
DOI: 10.1016/j.asjsur.2023.12.205 -
Indian Journal of Surgical Oncology Dec 2023Acantholytic squamous cell carcinoma is an infrequent subtype of squamous cell carcinoma. This tumour variant being rare in itself has been rarely described at the...
Acantholytic squamous cell carcinoma is an infrequent subtype of squamous cell carcinoma. This tumour variant being rare in itself has been rarely described at the penile location, thus leading to a limitation on information of pathological and immunohistochemical findings and prognosis. Clinical observations indicate an aggressive biologic behaviour. The cytological features on fine-needle aspiration cytology samples have rarely been described in literature. It is imperative for pathologists to be aware of the cytological features so as to allow the distinction of this variant from conventional squamous carcinoma. Here, we explore an intriguing case of a metastatic tumour to inguinal lymph node with the primary lesion at the penis which constituted a diagnostic challenge on cytological examination.
PubMed: 38187856
DOI: 10.1007/s13193-023-01811-y -
Urologie (Heidelberg, Germany) May 2024Lichen sclerosus et atrophicus (LSA) is a chronic inflammatory skin disease. It is frequently diagnosed following circumcision. Diabetes mellitus (DM) is a known risk...
BACKGROUND
Lichen sclerosus et atrophicus (LSA) is a chronic inflammatory skin disease. It is frequently diagnosed following circumcision. Diabetes mellitus (DM) is a known risk factor in men. Malignant pathology is more common in patients with LSA. Data on LSA in men are very limited.
OBJECTIVE
This study investigated the incidence of LSA in men who had undergone circumcision. Risk factors and likelihood of malignancy were captured.
MATERIALS AND METHODS
Data of 215 patients were retrospectively analyzed. As potential risk factors, age, body mass index (BMI), DM, coronary heart disease (CHD) and arterial hypertension were identified. Data were analyzed and displayed graphically as spike histograms. Logistic regression was applied. Age and BMI were transformed using cubic spline function.
RESULTS
Mean age of patients was 37 years (± 22 years). Mean BMI was 26.4. In all, 24% of the patients had a BMI > 30. Of the patients, 11% had DM, 5.1% had CHD, and 19% had arterial hypertension. Pathology revealed LSA in 47% of patients. Malignant disease was apparent in 3.3% of patients (2.7% without concomitant LSA, 4% with concomitant LSA). Age (55 vs 20 years, odds ratio [OR]: 3.210 [1.421, 7.251]) was a significant risk factor for LSA. BMI (30 vs 22 kg/m, OR 1.059 [0.614, 1.828]) and DM (OR: 0.42 [0.148, 1.192]) elevated the risk for LSA.
CONCLUSION
We saw high rates of LSA in patients had undergone circumcision. Higher age represents a significant risk factor. In 3.3%, final pathology revealed squamous cell carcinoma of the penis. Therefore, pathologic work-up of circumcision specimen is mandatory.
Topics: Humans; Male; Lichen Sclerosus et Atrophicus; Risk Factors; Penile Neoplasms; Phimosis; Adult; Incidence; Carcinoma, Squamous Cell; Middle Aged; Circumcision, Male; Retrospective Studies; Young Adult; Aged; Comorbidity; Adolescent
PubMed: 38180522
DOI: 10.1007/s00120-023-02271-6 -
Histopathology Apr 2024Primary mucinous adenocarcinoma of the urethra represents an extremely rare entity. We sought to characterise further these tumours' clinicopathological,...
AIM
Primary mucinous adenocarcinoma of the urethra represents an extremely rare entity. We sought to characterise further these tumours' clinicopathological, immunohistochemical and molecular features.
METHODS AND RESULTS
Thirty-five cases were identified, occurring in 18 males and 17 females. The mean age at diagnosis was 65 years (28-89 years). The main presentation symptoms were haematuria and urinary outlet obstruction. Microscopic analysis revealed that all 35 tumours have stromal dissection by mucin. Ten tumours showed villoglandular dysplasia, nine showed mucinous metaplasia, two showed adenocarcinoma in situ and four showed signet ring cell features. All tumours were immunopositive for CEA, while immunonegative for nuclear β-catenin; 19 of 23 (83%) expressed high molecular weight cytokeratin; 19 of 33 (58%) CK7; 28 of 34 (82%) CK20; 32 of 35 (91%) CDX2; 22 of 27 (81%) cadherin-17 (CDH-17); 26 of 29 (90%) SATB2; and one of 31 (3%) GATA3. Mismatch repair gene products, including MLH1, PMS2, MSH2 and MSH6, were immunopositive, suggesting the MSI-low genotype of mucinous adenocarcinoma of the urethra. BRAF V600E and ALK rearrangements were not detected. During the mean follow-up of 20 months, nine patients either developed distant metastasis or succumbed to the illness.
CONCLUSION
Our study, encompassing the most extensive series of 35 cases of primary mucinous adenocarcinoma of the urethra, provides crucial insights into its precise diagnosis, management and potential targeted treatments. We found a greater CDX2, SATB2 and CDH17 sensitivity in these urethral tumours for the first time, to our knowledge. We identified characteristics such as an MSI-low profile, non-V600E BRAF mutations and an absence of ALK rearrangements.
Topics: Male; Female; Humans; Aged; Proto-Oncogene Proteins B-raf; Urethra; Biomarkers, Tumor; Adenocarcinoma, Mucinous; Transcription Factors; Receptor Protein-Tyrosine Kinases
PubMed: 38114291
DOI: 10.1111/his.15118 -
Plastic and Reconstructive Surgery.... Dec 2023Immediate lymphatic reconstruction (ILR) has traditionally required a fluorescent-capable microscope to identify lymphatic channels used to create a lymphaticovenous...
BACKGROUND
Immediate lymphatic reconstruction (ILR) has traditionally required a fluorescent-capable microscope to identify lymphatic channels used to create a lymphaticovenous bypass (LVB). Herein, a new alternative method is described, identifying lymphatic channels using a commercially available handheld fluorescence imaging device.
METHODS
This was a single-center study of consecutive patients who underwent ILR over a 1-year period at a tertiary medical center. Intradermal injection of fluorescent indocyanine green dye was performed intraoperatively after axillary or inguinal lymphadenectomy. A handheld fluorescent imaging device (SPY-PHI, Stryker) rather than a fluorescent-capable microscope was used to identify transected lymphatic channels. Data regarding preoperative, intraoperative, and outcome variables were collected and analyzed.
RESULTS
The handheld fluorescent imaging device was successfully able to identify transected lymphatic channels in all cases (n = 15). A nonfluorescent-capable microscope was used to construct the LVB in 14 cases. Loupes were used in one case. In 13 cases, ILR was unilateral. In two cases, bilateral ILR was performed in the lower extremities. All upper extremity cases were secondary to breast cancer (n = 7). Lower extremity cases (n = 8) included extramammary Paget disease of the penis, ovarian cancer, vulvar squamous cell carcinoma, squamous cell carcinoma of unknown origin, soft tissue sarcomas, cutaneous melanoma, and porocarcinoma.
CONCLUSIONS
ILR, using indocyanine green injection with a handheld fluorescent imaging device, is both safe and effective. This method for intraoperative identification of lymphatic channels was successful, and LVB creation was completed in all cases. This approach makes ILR feasible when a fluorescent-capable microscope is unavailable, broadening access to more patients.
PubMed: 38111725
DOI: 10.1097/GOX.0000000000005480 -
Human Genomics Dec 2023The effect of SPP1 in squamous cell carcinoma of the penis (PSCC) remained unknown. We attempted to clarify the function of the SPP1 gene in PSCC.
BACKGROUND
The effect of SPP1 in squamous cell carcinoma of the penis (PSCC) remained unknown. We attempted to clarify the function of the SPP1 gene in PSCC.
METHOD
Eight paired penile cancer specimens (including penile cancer tissue, paracancerous tissue, and positive lymph node tissue) subjected to whole transcriptome sequencing were analysed to identify differentially expressed genes. We used immunohistochemistry to detect the expression of SPP1 protein and immune cell related proteins in penile cancer tissue. Then, we performed weighted gene coexpression network analysis (WGCNA) to identify the genes related to SPP1 in penile cancer tissue and positive lymph node tissue. Based on the GSE57955 dataset, the CIBERSORT and ssGSEA algorithms were carried out to investigate the immune environment of PSCC. GSVA analysis was conducted to identify the signaling pathways related to SPP1 subgroups. Enzyme-linked immunosorbent assay (ELISA) method was adopted to detect SPP1 level in the serum of 60 patients with penile cancer.
RESULTS
Differential analysis indicated that SPP1 was the most differentially upregulated gene in both penile cancer tissues and positive lymph node tissues. Survival analysis suggested that the prognosis of the low-SPP1 group was significantly poorer than that of the high-SPP1 group. Subsequently, immune-related bioinformatics showed that SPP1 was significantly associated with B cells, CD8 + T cells, CD4 + T cells, macrophages, helper T cells, neutrophils and dendritic cells. The immunohistochemical results showed that the high-SPP1 group was characterized by relatively high expression of CD16 and relatively low expression of CD4. GSVA analysis indicated that high-SPP1 group was significantly associated with immune-related pathways such as PD-L1 expression and the PD-1 checkpoint pathway in cancer and the TNF signaling pathway. ELISA demonstrated that the serum level of SPP1 in patients with positive lymph node metastasis of penile cancer was significantly higher than that in patients with negative lymph node metastasis of penile cancer.
CONCLUSION
Our study shows that the SPP1 gene might be an effective biomarker for predicting the prognosis and the efficacy of immunotherapy in PSCC patients.
Topics: Carcinoma, Squamous Cell; Penile Neoplasms; Immunotherapy; Osteopontin; Biomarkers, Tumor; Gene Expression Profiling; Survival Analysis; Sequence Analysis, RNA
PubMed: 38111044
DOI: 10.1186/s40246-023-00558-5