Spontaneous regression of a temporal arachnoid cyst

Surgery is considered to be the standard therapy for arachnoid cysts (ACs). We report the case of a 13-year-old boy in whom a right temporal AC disappeared spontaneously over a period of 10 years. Bulging of the right temporal skull led to the detection of the cyst by computed tomography (CT) scan at the age of 3 years. There were no other clinical symptoms. Subsequent CT scans showed spontaneous regression of the cyst without surgical intervention. The question as to how ACs should be treated is discussed.     

高龄备孕妇女常见妇科疾病及处理

目前高龄备孕,尤其是超过40岁甚至45岁的超高龄人群备孕皆在增多,妇产科医生面临的除高龄所带来的高危产科外,如何最优化处理此类人群的妇科疾病同样是项巨大挑战。高龄孕妇常见妇科疾病如子宫肌瘤、卵巢囊肿、宫颈上皮内瘤变、瘢痕憩室等,临床关注的焦点在于能否妊娠、孕前是否需手术、手术治疗对妊娠影响以及尽少破坏生育功能的手术技巧等方面。文章结合相关文献,对上述问题进行阐述。     

An autopsy case of clinically un‐diagnosed autosomal recessive polycystic kidney disease in 77‐year‐old male

Autosomal recessive polycystic kidney disease (ARPKD) is caused by genetic mutations of the gene encoding fibrocystin, and is characterized by the collecting duct cysts and congenital hepatic fibrosis. We report an autopsy‐proven case of ARPKD in a 77‐year‐old male who presented with rapidly progressive renal and liver dysfunction. He had refused hemodialysis, and died 4 months later. At autopsy, both kidneys were enlarged with numerous small cysts throughout the cortex, which were revealed immunohistochemically to be the collecting ducts. Liver involvement was characterized by ductal plate malformation accompanied with portal fibrosis. The morphological appearances were compatible with ARPKD and the negative immunostaining for fibrocystin in the collecting ducts and bile ducts confirmed the diagnosis. ARPKD is known to occur in the neonatal period or in infancy with a high mortality rate. Although some patients who survive infancy are expected to live longer into young adulthood, most patients with ARPKD die of renal and hepatic failure in their childhood. The present case is extremely exceptional, in that no clinical symptoms suggestive of ARPKD were noticed until old age, and suggests that the disease spectrum of ARPKD is variable, and that a slowly progressive form of ARPKD may not be diagnosed until old age.     

腘窝囊肿形成的解剖学因素

目的　探讨腘窝囊肿形成的解剖因素。 方法　对30个成人膝关节标本进行解剖：(1)观察半膜肌与腓肠肌内侧头滑液囊(GSB)是否存在,GSB与膝关节滑膜囊的关系;(2)是否存在GSB与膝关节滑膜囊的通道口;(3)向膝关节腔内注射生理盐水,观察当关节腔内压力增大后,关节内液体是否向GSB内外流。 结果　(1)所有标本均存在GSB,40%(12个)标本的GSB与膝关节滑膜腔相通,其余60%(18个)均存在与膝关节滑膜腔相关联的薄弱区;(2)当膝关节腔内压力增大时关节液流向GSB内。 结论　半膜肌与腓肠肌内侧头滑液囊(GSB)是形成腘窝囊肿的解剖基础。     

A primary thymic adenocarcinoma with two components that traced distinct evolutionary trajectories

Even though it is a rare subtype, identifying the genetic features of thymic adenocarcinoma is valuable for a multifaceted understanding of thymic epithelial tumors. We experienced a female patient with thymic adenocarcinoma associated with thymic cysts. The tumor consisted of a solid whitish lesion (lesion-1) and a large cystic lesion with small papillary nodules (lesion-2). Microscopically, lesion-1 exhibited poorly differentiated adenocarcinoma accompanying numerous inflammatory cell infiltrates, and lesion-2 (the nodules within the cystic lesion) exhibited enteric-type adenocarcinoma. Consistent with the histological difference, whole-exome sequencing revealed that these two components exhibited distinct genetic features, except for only a few shared mutations, including CDKN2A truncation. Lesion-1 exhibited microsatellite instability-high signature with high mutation burden, for which immune checkpoint inhibitors might apply; and lesion-2 exhibited whole-genome doubling with KRAS hotspot mutation. Our case presents novel genetic features of thymic adenocarcinoma and demonstrates that distinct mutational processes can be operative within a single tumor.     

Renal lesions in von Hippel-Lindau disease: immunohistochemical expression of nephron differentiation molecules, adhesion molecules and apoptosis proteins

AIMS: Renal lesions in von Hippel-Lindau disease comprise clear cell simple cysts, atypical cysts and carcinomas. Although histological and molecular studies suggest that cystic lesions may represent precursors of carcinomas, there is no detailed phenotypic evidence of their relationship. METHODS AND RESULTS: To investigate such a possible relationship between cystic lesions and solid carcinomas, we studied the pathological and immunohistochemical features of 328 lesions of 33 kidneys originating from 23 patients with von Hippel-Lindau disease, using a panel of antibodies directed against cytoskeleton proteins, cell surface proteins, integrin subunits, adhesion molecules, lectins, and apoptosis and proliferation markers. Solid carcinomas (n = 175) were all of clear cell type and mostly nuclear grade 1. Cystic lesions (n = 138) consisted of cystic clear cell carcinomas (n = 15), atypical cysts (n = 20) and simple cysts (n = 103). Clear cells of the simple cysts, atypical cysts and solid carcinomas coexpressed cytokeratins (CK8, CK19) and vimentin, and expressed a similar pattern of tubular markers (CD24, tetraglonolobus), integrin subunits (alpha3, alpha5, alpha6, alphav, beta1) and cell adhesion molecules (ICAM 1, VCAM 1). In all lesions studied, proliferation rate (MIB1 index) was low, and apoptosis marker expression (fragmented DNA, p53, bcl-2) inconspicuous. CONCLUSIONS: Phenotypic alterations found in solid renal cell carcinomas are already present in simple and atypical renal cysts of von Hippel-Lindau disease.     

Giant Paratubal Serous Cystadenoma in an Adolescent Female: Case Report and Literature Review

BackgroundParaovarian/paratubal cysts constitute 5-20% of all adnexal lesions and typically originate from the paramesonephric or Müllerian duct. The primary epithelial tumors arising from paraovarian cysts account for 25% of the cases, but giant cystadenomas of paraovarian origin are extremely uncommon during childhood and adolescence with very few cases reported in the literature.CaseWe present the case of a 15-year-old female that presented with a bulky mass in the abdomen and pelvis. An initial clinical and radiological examination indicated an ovarian cyst measuring ∼25 × 20 cm. However, explorative laparotomy revealed a giant paratubal cyst that was successfully treated with complete excision using fertility-sparing surgery. Histopathological examination was consistent with a serous cystadenoma. The postoperative course was uneventful and the girl was discharged on the seventh postoperative day. At the follow-up of 6 months, the patient was doing well.     

Clinical,cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: Clinical report and review of the literature

We report cytogenetic and molecular findings performed in a patient with double mosaic aneuploidy. Chromosome analysis of amniotic fluid cells from a 17‐week‐old fetus was performed because of advanced maternal age. Two karyotypes were detected: 45,X and 47,XX,+18 (50:50%). The same cell lines were determined in uncultured and cultured amniocytes of a second amniotic fluid sample, in fetal lymphocytes, and in uncultured and cultured cells of achilles tendon by conventional cytogenetics and fluorescence in situ hybridization (FISH). In the different investigated tissues, the percentage of cells with 45,X karyotype ranged from 20–99% and the percentage of cells with 47,XX,+18 ranged from 1–80%. The pregnancy was terminated at 22 + 0 weeks because of a severe cardiac malformation. Pathologic examination showed a fetus with aspects typical for manifestation of trisomy 18 and monosomy X, especially in the internal organs. The parent and cell stage of origin was determined by short tandem repeat typing and revealed a maternal meiotic division error that led to trisomy 18, as well as a somatic loss of a paternal sex chromosome. Only two other patients with the same mosaicism have been reported so far. Genetic counseling and prognosis remains challenging. © 2002 Wiley‐Liss, Inc.     

Ameloblastic fibroma: A fine-needle aspiration case report

Fine-needle aspiration biopsy of an ameloblastic fibroma, an unusual odontogenic tumor related to ameloblastoma, was performed on a 38-yr-old man with a slowly enlarging left facial mass. Aspiration of the tumor yielded a cellular sample composed of a mixture of mesenchymal and epithelial cells, arranged, respectively, in thick mats and complex solid structures outlined by columnar cells with central regions reminiscent of stellate reticulum. A diagnosis of odontogenic tumor was conferred, and the lesion was surgically biopsied and then resected. The key cytologic feature distinguishing this lesion from other odontogenic tumors was fragments of hypercellular stroma. The differential diagnosis includes ameloblastoma, ameloblastic fibrosarcoma, other odontogenic tumors, intraosseous adenoid cystic carcinoma, trabecular adenoma, and basal-cell carcinoma. Diagn. Cytopathol. 1997; 17:280–286. © 1997 Wiley-Liss, Inc.     

Intracytoplasmic Lumina in Human Oviduct Epithelium

Intracytoplasmic lumina (ICL) in human oviduct epithelium were investigated with transmission electron microscopy. ICL were found in 43 out of 60 cases examined. They were ultra-structurally characterized by microvilli lining the lumina, periodic acid-thiocarbohydrazide-silver proteinate (PA-TCH-SP) staining-positive finely granular material in the lumina, and secretory vesicles in the cytoplasm surrounding the lumina. Although ICL were observed at various heights within the epithelium, they were mainly seen in basally located cells that did not face the oviduct lumen. Various stages of formation and development of ICL were observed in the basally located epithelial cells with secretory activities. Primary ICL were originated in the cytoplasm where the secretory granules were aggregated with smooth-surfaced tubular vesicles. Electron microscopic observations after PA-TCH-SP staining revealed that ICL were formed by fusion of the secretory granules with the tubular vesicles. ICL were enlarged into round profiles by further fusion of secretory granules and tubular vesicles, and subsequently opened to the oviduct lumen, or fused to each other to develop into large extracellular cysts within the epithelium.