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1.
Case Rep Oncol ; 15(1): 399-402, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35702558

RESUMEN

Many patients with metastatic breast cancer develop liver metastases. A rare complication of this is hepatopulmonary syndrome (HPS), which is associated with exertional dyspnea and intrapulmonary shunting. We present a patient who presented with HPS as a consequence of liver metastases and subsequently treated with chemotherapy leading to resolution of her symptoms.

3.
Cancer Rep (Hoboken) ; 3(6): e1287, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-32881420

RESUMEN

BACKGROUND: Genetic testing for cancer predisposition is recommended to women with breast cancer who meet the criteria for such testing. After the FDA approvals of the poly ADP ribose polymerase (PARP) inhibitors, olaparib and talazoparib, for treatment of metastatic breast cancer, carrying germline mutations in BRCA1 and BRCA2 genes, the genetic testing result has become critical in their care. With the recent FDA approval of alpelisib for the treatment of PIK3CA-mutated hormone-receptor positive metastatic breast cancer, tumor molecular profiling to identify somatic mutations and potential molecularly targeted agents is increasingly utilized in the treatment of advanced breast cancer. AIM: Combining germline and somatic sequencing (paired testing) offers an advantage over a single technique approach. Our study evaluates the role of paired testing on the management of breast cancer patients. METHODS AND RESULTS: Forty-three breast cancer patients treated at Rush University Medical Center underwent paired germline and somatic variant testing in 2015 to 2017. A retrospective chart review was conducted with the analysis of demographic, clinical, and genomic data. Three actionable germline variants were found in the CHEK2 (2) and ATM (1) genes. 95% of tumors had somatic mutations. Seventy-seven percent of tumors had genomic alterations targetable with agents approved for breast cancer and 88% had molecular targets for agents approved for other cancers. Clinical examples of such use are described and potential future directions of tumor and paired testing are discussed. CONCLUSIONS: Germline variants were present in a relatively small patient group not routinely tested for inherited alterations. Potentially targetable somatic alterations were identified in the majority of breast cancers. Paired testing is a feasible and efficient approach that delivers valuable information for the care of breast cancer patients and eliminates serial testing.


Asunto(s)
Neoplasias de la Mama/genética , Mutación de Línea Germinal , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias de la Mama/terapia , Quinasa de Punto de Control 2/genética , Femenino , Genes BRCA1 , Genes BRCA2 , Genes p53 , Humanos , Persona de Mediana Edad , Proyectos Piloto , Estudios Retrospectivos
4.
Case Rep Hematol ; 2020: 1945058, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32280548

RESUMEN

A 60-year-old woman was diagnosed with isolated mucosa-associated lymphoid tissue (MALT) lymphoma of the ocular adnexa and treated with two years of weekly rituximab for eight doses followed by rituximab maintenance. After nearly two years of maintenance therapy, she developed a tender, indurated mass on the left neck. Biopsy results were consistent with primary cutaneous classical Hodgkin lymphoma (PCCHL).

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