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1.
Int J Mol Sci ; 24(17)2023 Aug 22.
Artículo en Inglés | MEDLINE | ID: mdl-37685851

RESUMEN

Among patients with triple-negative breast cancer (TNBC), several studies have suggested that deregulated microRNA (miRNA) expression may be associated with a more aggressive phenotype. Although tumor molecular signatures may be race- and/or ethnicity-specific, there is limited information on the molecular profiles in women with TNBC of Hispanic and Latin American ancestry. We simultaneously profiled TNBC biopsies for the genome-wide copy number and miRNA global expression from 28 Latina women and identified a panel of 28 miRNAs associated with copy number alterations (CNAs). Four selected miRNAs (miR-141-3p, miR-150-5p, miR-182-5p, and miR-661) were validated in a subset of tumor and adjacent non-tumor tissue samples, with miR-182-5p being the most discriminatory among tissue groups (AUC value > 0.8). MiR-141-3p up-regulation was associated with increased cancer recurrence; miR-661 down-regulation with larger tumor size; and down-regulation of miR-150-5p with larger tumor size, high p53 expression, increased cancer recurrence, presence of distant metastasis, and deceased status. This study reinforces the importance of integration analysis of CNAs and miRNAs in TNBC, allowing for the identification of interactions among molecular mechanisms. Additionally, this study emphasizes the significance of considering the patients ancestral background when examining TNBC, as it can influence the relationship between intrinsic tumor molecular characteristics and clinical manifestations of the disease.


Asunto(s)
MicroARNs , Neoplasias de la Mama Triple Negativas , Femenino , Humanos , Neoplasias de la Mama Triple Negativas/genética , Genómica , Hispánicos o Latinos/genética , Etnicidad , MicroARNs/genética
2.
J Cutan Pathol ; 44(1): 93-97, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-27683091

RESUMEN

Trichilemmomas are benign cutaneous proliferations derived from the outer root sheath of the hair follicle. They most often occur on the head and neck region and show a female predominance. When multiple, they are associated with Cowden syndrome (CS), a rare disorder due to an autosomal dominant germline mutation in PTEN (phosphatase and tensin homolog on chromosome 10), a tumor suppressor gene. Trichilemmomas outside of the head and neck region are rare, and as such, the association with CS is not clear. A 28-year-old healthy female with no significant family history of cancer presented to her dermatologist with multiple erythematous papules on the left anterior ankle, starting at birth. A shave biopsy confirmed the diagnosis of trichilemmoma with focal desmoplastic features (or desmoplastic trichilemmoma). A PTEN immunohistochemical study showed patchy (but not complete) loss of staining of the lesional cells. After shave removal, the trichilemmomas recurred 1-2 months later.


Asunto(s)
Enfermedades del Cabello/patología , Folículo Piloso/patología , Hamartoma/patología , Fosfohidrolasa PTEN/biosíntesis , Enfermedades de la Piel/patología , Adulto , Tobillo , Femenino , Hamartoma/genética , Humanos , Fosfohidrolasa PTEN/análisis , Enfermedades de la Piel/genética
3.
Int J Gynecol Pathol ; 35(2): 162-6, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26352546

RESUMEN

A 36-yr-old, gravida 5 para 4 woman presented with uterine bleeding and was discovered to have a 3.7-cm uterine mass with multiple, bilateral, lung metastases. Six months earlier, the patient was diagnosed with a partial hydatidiform mole that demonstrated a rare chromosomal karyotype 68, XX[12]. The patient's serum ß-human chorionic gonadotropin was elevated from baseline to 12,039 mIU/mL before the treatment. A total hysterectomy was performed and revealed a markedly hemorrhagic, extensively necrotic choriocarcinoma. The tumor mass invaded to a depth of 1/3 of the uterine wall thickness. Cytogenetic analysis of the choriocarcinoma revealed the same 68, XX karyotype, as observed in the antecedent partial hydatidiform mole. A clinical diagnosis of advanced stage invasive choriocarcinoma was rendered, with a risk factor score of 5. Following the development of chemoresistance to a single-agent (methotrexate) regimen, the patient subsequently received 5 cycles of chemotherapy (EMA-CO), without any major complication. She is currently >5 yr posttreatment and is asymptomatic. Her most recent imaging studies, including scans of chest and brain, show no evidence of disease, and her serum ß-human chorionic gonadotropin level has remained consistently below detectable levels.


Asunto(s)
Coriocarcinoma/patología , Mola Hidatiforme/patología , Neoplasias Primarias Secundarias/patología , Neoplasias Uterinas/patología , Adulto , Coriocarcinoma/genética , Aberraciones Cromosómicas , Femenino , Humanos , Mola Hidatiforme/genética , Neoplasias Primarias Secundarias/genética , Embarazo , Neoplasias Uterinas/genética
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