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1.
Ann Diagn Pathol ; 73: 152361, 2024 Jul 17.
Article in English | MEDLINE | ID: mdl-39032381

ABSTRACT

The most common type of melanoma is cutaneous melanoma (CM). The predominant mutational signature is that of ultraviolet radiation (UVR) exposure. The Cancer Genome Atlas (TCGA) molecular classification includes four major subtypes of CM based on common genetic alterations involving the following genes: BRAF, NRAS, and NF1, with a small fraction being "triple" wild-type. The two main signaling pathway abnormalities in CM are the mitogen-activated protein kinase (MAPK) pathway and the phosphoinositol-3-kinase (PI3K) pathway. Other less common types include mucosal melanomas (MM) and uveal melanoma (UM), which have a significantly different genomic landscape. Although few studies reported rare cases with HPV-positive (HPV+) melanoma, the clinicopathological and molecular characteristic of this entity has not been well-described. Among the 2084 melanoma cases queried at our institution, we identified seven patients diagnosed with HPV+ melanoma (prevalence 0.03 %), including five instances of CM and two of MM. The majority of cases were positive for HPV16 (n = 6). Most of the patients were elderly and with advanced disease (n = 6), although this finding may be attributed to the relative frequency of our institution testing advanced-stage tumors. Histologically, most cases showed high degree of pleomorphism and high mitotic count (5 or more mitoses/mm2) (n = 6). UVR signature was present in the CM, but not in the MM cases. Alterations in either MAPK and/or PI3K pathways were detected in the majority of cases (n = 6). The most common genetic abnormalities detected in this study occurred in the TERT promoter (TERTp) (n = 5), a finding that has been reported to be associated with aggressive disease. Our data shows that while HPV+ melanoma is rare, identifying this disease entity could help guide therapy given the demonstrated genomic alterations.

2.
Future Sci OA ; 7(9): FSO768, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34737892

ABSTRACT

Overexpression of p16 is closely related to human papillomavirus (HPV)-associated oropharyngeal squamous cell carcinoma (SCC) and pertains a prognostic relevance. Programmed cell death 1-ligand 1 (PD-L1) is another important marker, as anti-PD-L1 immunotherapy is available. Retrospective analysis of 57 cases of the SCC involving oropharynx (27 cases), hypopharynx (5 cases), larynx (11 cases), and oral cavity (14 cases) was performed. Each case was scrutinized for the basaloid morphology, p16, and PD-L1 expression. Basaloid morphology was identified in 47% of total cases. The majority of basaloid SCC variants were located in the oropharynx (89%). High expression of p16 was mostly observed in the oropharynx. High PD-L1 expression was seen predominantly in oropharyngeal and hypopharyngeal locations. Further studies in a larger cohort are necessary to correlate PD-L1 and p16 expression with survival.

3.
SAGE Open Med Case Rep ; 9: 2050313X211004799, 2021.
Article in English | MEDLINE | ID: mdl-33854781

ABSTRACT

Myelolipoma is an uncommon benign neoplasm composed of mature adipose tissue and hematopoietic elements. Myelolipoma occurs most frequently in the adrenal gland but occasionally can be seen in extra-adrenal locations such as lung, liver, retroperitoneum, mediastinum, and kidney. We report a case of extra-adrenal myelolipoma presented as a localized asymptomatic mass in the renal sinus of left native kidney of a 60-year-old woman. The patient was being investigated for end-stage renal disease status post renal transplant. Histologic examination of the lesion showed classic features for myelolipoma. Our case illustrates the awareness of this entity in unusual location and the appropriate use of diagnostic modalities to prevent unnecessary surgical interventions particularly in patients with major co-morbidity in the future.

4.
Radiol Case Rep ; 14(6): 750-754, 2019 Jun.
Article in English | MEDLINE | ID: mdl-30992734

ABSTRACT

Renal capillary hemangiomas are rare and benign vascular tumors which are typically incidentally discovered on imaging. Surgical excision is often performed, as imaging appearance is similar to malignant lesions. Renal hemangiomas are typically solitary and unilateral. We present a rare case of multiple renal capillary hemangiomas in a patient with end-stage renal disease. Two hemangiomas were detected on imaging and 2 smaller hemangiomas were detected upon pathological evaluation, suggesting there may be a wider prevalence of smaller, radiographically-occult renal hemangiomas.

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