An anaplastic pleomorphic xanthoastrocytoma with periventricular extension: An autopsy case report and review of the literature

Pleomorphic xanthoastrocytomas (PXAs) are rare low-grade astrocytic tumors that typically present as superficial nodular cystic tumors of the cerebrum attached to the leptomeninx. Histologically, they are pleomorphic, hypercellular glial neoplasms. Despite the presence of microscopic pleomorphism, patients’ postoperative prognosis is generally good. Anaplastic PXAs (APXAs) have a high mitotic index and patients with APXAs have a worse prognosis than patients with PXAs. Here, we report an autopsy case of APXA initially diagnosed as PXA. After gross total resection, the tumor recurred and was diagnosed as an APXA; thereafter, the patient died. An autopsy revealed that the tumor had relapsed at the primary site and had spread to the leptomeningeal space while concurrently invading the cerebrum including the periventricular area forming multifocal lesions. The histological findings of the autopsy were similar to those for epithelioid glioblastoma (EGBM) and small cell glioblastoma (SCGBM). In particular, the periventricular area with multifocal lesions was composed of SCGBM-like cells. It has been shown that multifocal lesions are frequently identified in patients with SCGBM. This is the first histopathologically confirmed case of APXA-related tumor presenting with periventricular extension and multifocal lesion formation. The periventricular extension might be a feature of PXAs and APXAs. However, suspected periventricular spread on imaging in past cases of PXAs and APXAs might instead represent the malignant transformation of these tumors to glioblastoma-like high-grade tumors, which often show SCGBM-like histological patterns.     

尸体胸椎黄韧带骨化的病理观察

研究兴柱黄韧带骨化的病理特征。方法：随机选择２１具尸体胸椎标本，矢状剖开１８具，冠状剖开３具，观察每一节段黄韧带病理学特征，对骨化标本进行病理学研究。结果；２１具标本中，９具５９节段骨化，其中增生骨化４具，２３节段占３９％，单纯骨化７具，累积３６节段，病理表现呈３层结构。     

Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies

Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. In this report, four fetal or perinatal autopsy cases of arthrogryposis were studied by gross morphology, microscopic histopathologic examination, and whole genome sequencing of postmortem DNA. Two stillborn sibling fetuses with arthrogryposis, pterygia, and amyoplasia had compound heterozygous pathogenic variants in NEB. A neonate with a histopathologic diagnosis of nemaline myopathy had a heterozygous de novo pathogenic variant in ACTA1. Another stillborn infant with pterygia and arthrogryposis had a heterozygous de novo likely pathogenic variant in BICD2. These cases demonstrate the utility of whole genome sequencing as the principal diagnostic method of lethal forms of skeletal muscle disorders that present with arthrogryposis and muscle amyoplasia/hypoplasia. Molecular diagnosis provides an opportunity for studying patterns of inheritance and for family counseling concerning future pregnancies.

     

Cytopathological and immunocytochemical findings of pancreatic anaplastic carcinoma with ZEB1 expression by means of touch imprint cytology

Pancreatic anaplastic carcinoma (PAC) is rare and has an aggressive clinical course. We report an autopsy case of PAC focusing on the cytopathological characteristics of the tumor and immunocytochemical staining for vimentin, E‐cadherin, and zinc finger E‐box binding homeobox 1 (ZEB1), which markers are associated with epithelial markers of epithelial‐mesenchymal transition (EMT). A 50‐year‐old woman presented to our hospital with a chief complaint of jaundice. A pancreatic head tumor and multiple liver nodules were detected on abdominal computed tomography. Biliary cytology under endoscopic retrograde cholangiopancreatography suggested ductal adenocarcinoma. Three months after admission, she died of multiorgan failure. At autopsy, touch imprint cytology using squash preparation of the pancreatic tumor identified two different cell types; numerous isolated malignant cells with large and pleomorphic nuclei and a few clusters showing irregularly overlapped nuclei and irregular contours within the necrotic background. Immunocytochemically, isolated cells were positive for vimentin and ZEB1, and negative for E‐cadherin. Conversely, clusters were negative for vimentin and ZEB1, and positive for E‐cadherin. Histologically, the tumor was composed of sarcomatous cells with small foci of adenocarcinoma, which were consistent with a diagnosis of PAC. Immunohistochemical staining of the adenocarcinoma and sarcomatous cells corresponded to those of the clusters and isolated malignant cells, respectively. Immunostaining of these EMT markers is useful to distinguish sarcomatous cells from adenocarcinoma and can contribute to the accurate diagnosis of pancreatic tumors with EMT.     

Deaths among young, single women in 2000-2001 in the West Bank, Palestinian Occupied Territories

A study in 2000-2001 of causes of death of women of reproductive age (15-49) in the West Bank, Palestinian Occupied Territories, found that 154 of the 411 deceased women aged 15-49 with known marital status were single. Death notification forms for reported deaths were analysed and verbal autopsies carried out, where possible, with relatives of the deceased women. We found important differences in the age at death and causes of death among the single and married women, which can be attributed to the disadvantaged social status of single women in Palestinian society, exacerbated by the current unstable political situation. 41% of the deceased single women were under 25 years of age at death compared to 8% of the married women. The proportion of violent deaths and suicides among the single women was almost twice as high as among the married women, mainly in those below age 25. The single women were also more likely to die from medical conditions which indicated that they faced barriers to accessing health care. The fieldwork was conducted at the height of the Intifada and the Israeli military response, with heavy restrictions on mobility, limiting the possibility of probing deeper into the circumstances surrounding sensitive deaths. More research into the socio-cultural context of single women in Palestine society is needed as a basis for intervention.     

The usefulness of measuring n-butyric acid concentration as a new indicator of blood decomposition in forensic autopsy

In forensic medicine, although various alcohols have been reported as indicators of decomposition in collected blood, no studies have examined short-chain fatty acids as indicators. In this study, the blood n-butyric acid concentration was quantified, and the association between n-butyric acid and decomposition was investigated to determine whether the detection of n-butyric acid could be a new indicator of decomposition. Among the forensic autopsies performed from 2016 to 2018 in our laboratory, the cases were divided into decomposed (n = 20) and non-decomposed (n = 20) groups based on macroscopic findings. Blood samples collected at the time of autopsy were derivatized with 3-nitrophenylhydrazine hydrochloride after solid-phase extraction. The n-butyric acid concentration was measured using liquid chromatography–tandem mass spectrometry. In addition, ethanol and n-propanol were measured using a gas chromatography-flame ionization detector. There was a significant difference (p < 0.01) in the concentrations of n-butyric acid between the decomposed and non-decomposed groups (0.343 ± 0.259 [0.030–0.973] and 0.003 ± 0.002 [0.001–0.007] mg/mL, respectively). In the decomposed group, n-butyric acid was detected at high concentrations, even in cases where n-propanol was low. These results suggest that n-butyric acid is more likely to be an indicator of blood decomposition than n-propanol.     

36例致死性肺血栓栓塞临床病理分析

目的　进一步提高对致死性肺血栓栓塞症临床特点的认识。方法　回顾分析 1982年 11月～ 2 0 0 1年 2月经尸检证实的致死性肺血栓栓塞症 36例。结果　生前诊断仅 6例 ,合并有COPD、心血管疾病或恶性肿瘤的肺栓塞生前诊断率更低。有 4例患者无风险因素存在。临床多表现为呼吸困难突然发作或加重、晕厥、猝死 ,而胸痛及咯血少见 ,2 5 %的患者出现循环衰竭。对 4例采取了预防血栓栓塞的措施。结论　常见的与肺血栓栓塞相关的临床表现并不能作为致死性肺血栓栓塞的诊断依据 ,其原因主要是病人缺乏典型的症状及体征 ,并且存在交流困难(例如昏迷或麻醉 )、猝死以及与其他疾病共存等问题     

The Pathological Features of Dissemination of Lymphoma in the Heart in 42 Autopsy Cases

OBJECTIVE To study the pathological features of dissemination of lymphoma in the heart and understand its influence on cardiac function.METHODS Forty-two patients who died of lymphoma were autoposied and the gross and microscopic pathological changes of the heart observed.RESULTS Eight (19.05%) out of 42 cases had heart dissemination in the pericardium and heart wall. The dissemination features noted were of a nodular type, diffuse type and mixed type, leading to neoplastic myocarditis.CONCLUSION The pathological features of dissemination of lymphoma in the heart are varied, and the different types can produce dissimilar influences in heart function.