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1.
Autops Case Rep ; 14: e2024484, 2024.
Article in English | MEDLINE | ID: mdl-38562645

ABSTRACT

Neuroendocrine breast cancer (NEBC) is a rare and heterogeneous entity. It most commonly presents a luminal phenotype and a worse prognosis. When diagnosed in an advanced stage, metastasis from another neuroendocrine tumor should be excluded. This case features a premenopausal woman with an oligometastatic breast large cell neuroendocrine carcinoma, estrogen receptor (ER) positive, and human epidermal growth factor receptor 2 (HER2) negative. Since the patient was very symptomatic at the presentation of the disease, chemotherapy was started. Complete radiological response of the metastatic disease was achieved, and the patient was then submitted to radical breast surgery and bilateral oophorectomy. She subsequently underwent radiation therapy. Since then and to date, she has been under endocrine therapy (ET) and a CDK4/6 inhibitor (CDK4/6i), with no evidence of malignant disease. Evidence to guide the choice of treatment for these tumors is currently scarce. In cases with oligometastatic disease, radical treatment should be considered. Given that this entity is rare, its reporting should be encouraged.

2.
Birth Defects Res ; 116(1): e2290, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38102779

ABSTRACT

BACKGROUND: Interrupted aortic arch (IAA) is a rare congenital heart disease characterized by loss of continuity between the ascending and the descending aorta. Prenatal diagnosis of IAA by echocardiography is challenging but nonetheless can be accomplished via a systematization of cardiac fetal evaluation. CASE PRESENTATION: We report a case of fetal IAA type A prenatally diagnosed through two-dimensional echocardiography using both a three vessel-trachea view and a sagittal view. CONCLUSION: Prenatal counseling regarding the diagnosis and prognosis about this anomaly is still challenging nowadays due to associated anomalies/chromosomal abnormalities who may impact the prognosis. Fetal autopsy in all cases of pregnancy termination after abnormal ultrasound findings is important in order to make a full diagnosis and characterize the anomaly.


Subject(s)
Aorta, Thoracic , Aortic Coarctation , Pregnancy , Female , Humans , Aorta, Thoracic/diagnostic imaging , Aorta, Thoracic/abnormalities , Ultrasonography, Prenatal/methods , Trachea , Prenatal Diagnosis
3.
Autops. Case Rep ; 14: e2024484, 2024. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1550053

ABSTRACT

ABSTRACT Neuroendocrine breast cancer (NEBC) is a rare and heterogeneous entity. It most commonly presents a luminal phenotype and a worse prognosis. When diagnosed in an advanced stage, metastasis from another neuroendocrine tumor should be excluded. This case features a premenopausal woman with an oligometastatic breast large cell neuroendocrine carcinoma, estrogen receptor (ER) positive, and human epidermal growth factor receptor 2 (HER2) negative. Since the patient was very symptomatic at the presentation of the disease, chemotherapy was started. Complete radiological response of the metastatic disease was achieved, and the patient was then submitted to radical breast surgery and bilateral oophorectomy. She subsequently underwent radiation therapy. Since then and to date, she has been under endocrine therapy (ET) and a CDK4/6 inhibitor (CDK4/6i), with no evidence of malignant disease. Evidence to guide the choice of treatment for these tumors is currently scarce. In cases with oligometastatic disease, radical treatment should be considered. Given that this entity is rare, its reporting should be encouraged.

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