Autopsy and Case Reports最新文献_第5页

Neuroendocrine breast carcinoma. 神经内分泌性乳腺癌

Autopsy and Case Reports Pub Date : 2024-03-21 eCollection Date: 2024-01-01 DOI: 10.4322/acr.2024.484

Laura Pratas Guerra, Joana Simões, Diogo Carvalho Sá, José Polónia, António Araújo

{"title":"Neuroendocrine breast carcinoma.","authors":"Laura Pratas Guerra, Joana Simões, Diogo Carvalho Sá, José Polónia, António Araújo","doi":"10.4322/acr.2024.484","DOIUrl":"10.4322/acr.2024.484","url":null,"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.","PeriodicalId":53117,"journal":{"name":"Autopsy and Case Reports","volume":"14 ","pages":"e2024484"},"PeriodicalIF":0.0,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10984608/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140337637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pylephlebitis - an uncommon challenging entity. 腕静脉炎--一种不常见的挑战性疾病。

Autopsy and Case Reports Pub Date : 2024-03-15 eCollection Date: 2024-01-01 DOI: 10.4322/acr.2024.480

Vitorino Modesto Dos Santos, Lister Arruda Modesto Dos Santos

引用次数: 0

Autopsy findings of fatal retroperitoneal hemorrhage after traumatic rupture of bilateral renal angiomyolipoma. 双侧肾血管脂肪瘤外伤性破裂后腹膜后出血致死的尸检结果。

Autopsy and Case Reports Pub Date : 2024-03-15 eCollection Date: 2024-01-01 DOI: 10.4322/acr.2024.482

Enrico De Dominicis, Gian Luca Marella, Gabriele Giuga, Giulia Ceccobelli, Luca Savino, Alessandro Mauro Tavone

{"title":"Autopsy findings of fatal retroperitoneal hemorrhage after traumatic rupture of bilateral renal angiomyolipoma.","authors":"Enrico De Dominicis, Gian Luca Marella, Gabriele Giuga, Giulia Ceccobelli, Luca Savino, Alessandro Mauro Tavone","doi":"10.4322/acr.2024.482","DOIUrl":"10.4322/acr.2024.482","url":null,"abstract":"The present work reports the autopsy findings of a unique case characterized by fatal retroperitoneal hemorrhage following the traumatic rupture of bilateral renal angiomyolipomas. Renal angiomyolipomas are generally benign tumors with an unpredictable clinical course, ranging from asymptomatic to sudden rupture and hemorrhagic shock. They may be associated with genetic disorders such as tuberous sclerosis complex. The case under investigation is unprecedented in the medical literature due to its bilateral nature and fatal outcome. Autopsy analysis revealed an extensive retroperitoneal hemorrhage originating from bilateral ruptured tumors. Microscopic examination found features consistent with bilateral renal angiomyolipoma. Circumstantial information identified a traffic accident before the death, considering it as the cause of the tumors' traumatic rupture. In this case, due to the severity of the situation, immediate medical measures-such as fluid resuscitation, coagulopathy correction, and surgical treatment, which are usually lifesaving-could not be performed. This led to the patient being declared dead at the scene of the crash.","PeriodicalId":53117,"journal":{"name":"Autopsy and Case Reports","volume":"14 ","pages":"e2024482"},"PeriodicalIF":0.0,"publicationDate":"2024-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10984609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140338554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel autopsy and genetic findings in an acardiac twin: case report and literature review. 心源性双胞胎的新尸检和遗传学发现：病例报告和文献综述。

Autopsy and Case Reports Pub Date : 2024-03-05 eCollection Date: 2024-01-01 DOI: 10.4322/acr.2024.477

Natalie Fabrizio, Christopher L Pankey, Kathleen Martin, Michael Baker, Cameron Clark Felty

{"title":"Novel autopsy and genetic findings in an acardiac twin: case report and literature review.","authors":"Natalie Fabrizio, Christopher L Pankey, Kathleen Martin, Michael Baker, Cameron Clark Felty","doi":"10.4322/acr.2024.477","DOIUrl":"10.4322/acr.2024.477","url":null,"abstract":"Twin reversed arterial perfusion (TRAP) sequence is a rare complication of monochorionic twinning whereby a donor twin perfuses an acardiac twin via aberrant vascular anastomoses. The resulting paradoxical retrograde blood flow supplying the acardiac twin is oxygen-poor, leading to some of the most severe malformations encountered in humans. Though the first descriptions of acardiac twins date back to at least the 16th century, the pathophysiologic processes which underpin the development of TRAP sequence are still being elucidated. Theories on the pathogenesis of TRAP sequence include deficiencies intrinsic to the embryo and primary abnormalities of the placental vasculature. Autopsy studies continue to provide clues to the underlying pathogenesis of TRAP sequence, and the characterization of the spectrum of manifestations that can be observed in acardiac twins. Herein, we present the clinical, autopsy, and molecular findings in a unique case of TRAP sequence. Novel findings include a primitive cloaca-like structure and chromosomal aberrations involving 6q11.1 and 15q25.1.","PeriodicalId":53117,"journal":{"name":"Autopsy and Case Reports","volume":"14 ","pages":"e2024477"},"PeriodicalIF":0.0,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10939183/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140133175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Papillary renal cell carcinoma with extensive spindle cell foci: mimicker of mucinous tubular and spindle cell carcinoma. 伴有广泛纺锤形细胞灶的乳头状肾细胞癌：模仿粘液性肾小管癌和纺锤形细胞癌。

Autopsy and Case Reports Pub Date : 2024-03-05 eCollection Date: 2024-01-01 DOI: 10.4322/acr.2024.479

Fareed Rajack, Shawn Medford, Tammey Naab

引用次数: 0

Primary leiomyosarcoma with osteosarcomatous differentiation of the breast. 原发性乳腺骨髓肉瘤伴骨肉瘤分化。

Autopsy and Case Reports Pub Date : 2024-02-26 eCollection Date: 2024-01-01 DOI: 10.4322/acr.2024.476

Ekta Sethi, Sunayana Misra, Arvind Ahuja

引用次数: 0

Acute dissection of a syphilitic saccular aneurysm of the ascending aorta and arch in a hypertensive patient - a rare phenomenon. 高血压患者升主动脉和弓部梅毒性囊状动脉瘤的急性夹层--罕见现象。

Autopsy and Case Reports Pub Date : 2024-02-26 eCollection Date: 2024-01-01 DOI: 10.4322/acr.2024.475

Hubert Daisley, Dennecia George, Johann Daisley

引用次数: 0

Exploring the unusual: a testosterone-secreting ovarian tumor. 探索不寻常：分泌睾酮的卵巢肿瘤。

Autopsy and Case Reports Pub Date : 2024-02-26 eCollection Date: 2024-01-01 DOI: 10.4322/acr.2024.478

Harpreet Kaur, Neha Singh, Sushma Bharti, Gurwinder Kaur

{"title":"Exploring the unusual: a testosterone-secreting ovarian tumor.","authors":"Harpreet Kaur, Neha Singh, Sushma Bharti, Gurwinder Kaur","doi":"10.4322/acr.2024.478","DOIUrl":"10.4322/acr.2024.478","url":null,"abstract":"Ovarian steroid cell tumors are rare, representing less than 0.1% of all ovarian neoplasms. Among the myriad causes of hirsutism, ovarian tumors account for 1% of the reported cases. We present the case of a 49-year-old parous postmenopausal woman who sought medical attention for hirsutism for 2 years. This case illustrates the unusual and interesting connection between rare ovarian pathology and the clinical manifestation of hirsutism in a postmenopausal patient. Her ultrasonography and MRI showed a right adnexal mass of solid-cystic consistency with thin septations. Her laboratory workup revealed high levels of total testosterone of 256 ng/ml (8.4-48.1ng/ml) and free testosterone of 7.36 pg/ml (0.2-4.1 pg/ml), while DHEAS - 234 µg/dl (35.4-256 µg/dl) and CA125 - 15.8U/L (0.0-35 U/L) were in the normal range. She underwent exploratory laparotomy with a total abdominal hysterectomy and oophorectomy. Histopathological examination and immunohistochemistry conclusively established the presence of a steroid cell tumor, specifically classified as \"Not Otherwise Specified\"(NOS), in the right ovary.","PeriodicalId":53117,"journal":{"name":"Autopsy and Case Reports","volume":"14 ","pages":"e2024478"},"PeriodicalIF":0.0,"publicationDate":"2024-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10939184/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140133174","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pylephlebitis. 腕静脉炎

Autopsy and Case Reports Pub Date : 2024-02-08 eCollection Date: 2024-01-01 DOI: 10.4322/acr.2024.473

Wilker Dias Martins, João Pedro Branco Santana, Marcelo Falcão Barros, Amaro Nunes Duarte

引用次数: 0

Mesenteric cystic lymphangioma in adults: a rare entity presenting as acute abdomen - a report of two cases. 成人肠系膜囊性淋巴管瘤：表现为急腹症的罕见病例--两例报告。

Autopsy and Case Reports Pub Date : 2024-02-08 eCollection Date: 2024-01-01 DOI: 10.4322/acr.2024.470

Tanvi Jha, Monika Sharma, Arvind Ahuja

{"title":"Mesenteric cystic lymphangioma in adults: a rare entity presenting as acute abdomen - a report of two cases.","authors":"Tanvi Jha, Monika Sharma, Arvind Ahuja","doi":"10.4322/acr.2024.470","DOIUrl":"10.4322/acr.2024.470","url":null,"abstract":"Lymphangiomas are rare benign tumors that mainly involve the head and neck region in pediatric patients. Lymphangiomas of the small bowel mesentery in adults are rarer. We present two cases of mesenteric lymphangioma with acute abdominal pain on presentation. Case 1: A 38-year-old female presented with abdominal pain, vomiting, fever, and difficult evacuation. On abdominal examination, she had an ill-defined, tender lump, and radiological findings raised a possibility of perforation peritonitis. Thus, exploratory laparotomy was planned. Per-operatively, a mesenteric mass was found, which, on histopathological evaluation, was found to be a mesenteric lymphangioma involving the bowel. Case 2: A 27-year-old male presented with abdominal pain and difficult evacuation. Radiological evaluation revealed a multilobulated lesion involving the mesentery and with differential diagnoses of mesenteric fibromatoses and inflammatory pseudotumor. Histopathological assessment of the resected mass revealed a lymphangioma that was limited to the mesentery. Owing to their rarity and non-specific presentation, mesenteric lymphangiomas are often misdiagnosed on clinical examination and imaging. Thus, histopathological examination is the gold standard to reach a definitive diagnosis.","PeriodicalId":53117,"journal":{"name":"Autopsy and Case Reports","volume":"14 ","pages":"e2024470"},"PeriodicalIF":0.0,"publicationDate":"2024-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10927243/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140112177","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0