Identification of germline mutations in DICER1 through routine somatic NGS analysis in various neoplasms [0.03%]
通过常规体细胞NGS分析在各种肿瘤中鉴定DICER1的种系突变
Leticia Gracia Sáenz,Svetlana Shalygina,Reyes Roca et al.
Leticia Gracia Sáenz et al.
DICER1 syndrome is a genetic disorder that predisposes individuals to developing a wide variety of neoplasms with different histopathological characteristics across a broad age range. This study presents three clinical cases: a newborn with...
Importance of the pathologist in sample management at the sampling site in an interventional pulmonology unit: ROSE, EBUS-TBNA and EBUS-TBLNC [0.03%]
介入性肺病科活检室病理医生管理样本的重要性：ROSE，EBUS-TBNA和EBUS-TBLNC
Beatriz Agredano-Ávila,Francisco Javier Velasco-Albendea,María Jesús Gil-Belmonte et al.
Beatriz Agredano-Ávila et al.
Niti Sureka,Smriti Sharan,Charanjeet Ahluwalia et al.
Niti Sureka et al.
Background: Pulmonary diseases represent a significant global health challenge, underscoring the need for accurate diagnostic methods to ensure effective management. Bronchoalveolar lavage (BAL) is an essential diagnostic...
Next generation sequencing unravels a gliosarcoma mimicking cerebral osteosarcoma [0.03%]
下一代测序揭示了一例胶质肉瘤误诊为脑内骨肉瘤的病例
Clara Marti-Macia,Lara Navarro,Teresa San-Miguel et al.
Clara Marti-Macia et al.
This study presents a case of a woman with recurrent headaches and nausea. Following initial surgery, the pathological diagnosis suggested primary cerebral osteosarcoma. However, despite osteosarcoma-directed chemotherapy, the patient exper...
Santiago Ramón,Cajal Agüeras,Empar Mayordomo et al.
Santiago Ramón et al.
Papillary thyroid carcinoma with fibromatosis/fasciitis-like/desmoid-type stroma: When to suspect and how to diagnose [0.03%]
具有纤维瘤病/肌炎型/包涵体型间质的乳头状甲状腺癌：如何怀疑和诊断
Judith González-López,Luis Rubio-Martínez,Carlos Zac-Romero et al.
Judith González-López et al.
Currently, it is known that more than 60% of adults have one or more thyroid nodules, of which less than 5% are malignant. Among them, papillary thyroid carcinoma (PTC) is the most common thyroid malignancy, accounting for 90% of all thyroi...
Bilateral primary ovarian clear cell carcinoma in a multiparous perimenopausal woman [0.03%]
绝经期前多产妇的双侧原发性卵巢透明细胞癌
Adil Aziz Khan,Neeti Nagar,Charanjeet Ahluwalia et al.
Adil Aziz Khan et al.
Primary ovarian clear cell carcinoma (OCCC) is a rare subtype of epithelial ovarian carcinoma (EOC), accounting for 5-10% of EOCs in the U.S., with a higher prevalence in East Asia. It is characterized by clear cells forming solid, tubular,...
Pathological insights into small cell osteosarcoma: A rare case report highlighting diagnostic approaches with a literature review [0.03%]
小细胞骨肉瘤的病理洞察：一个罕见病例报告，强调诊断方法并结合文献回顾
Bhaskar Narayan,Kuldeep Singh,Jeyaseelan Augustine et al.
Bhaskar Narayan et al.
Small cell osteosarcoma (SCOS) is an uncommon variant of osteosarcoma, typically affecting young adults. This case report presents an unusual case of a 35-year-old individual who presented with a growth in the mandible. Microscopically, the...
Multidisciplinary approach to reach a foetal diagnosis of Walker-Warburg syndrome: From autopsy to genetics and back [0.03%]
多学科方法用于Walker-Warburg综合征胎儿诊断：从解剖到基因再到解剖
Anna Sifre-Ruiz,Cristina Esquina-Rodriguez,Africa Manero-Azua et al.
Anna Sifre-Ruiz et al.
The diagnosis of central nervous system anomalies is a challenge for pathologists, especially in the context of stillbirth. A multidisciplinary approach including gestational data, ultrasound, and genetic tests not only increases diagnostic...
External quality assessment for EGFR exon 20 mutation testing in patients with non-small cell lung cancer in Spain [0.03%]
西班牙非小细胞肺癌患者EGFR第20号外显子突变检测的室间质量评价
Michele Biscuola,Ana Belén Enguita,Yolanda Ruano et al.
Michele Biscuola et al.
Introduction and aim: Non-small cell lung cancer (NSCLC) can arise from insertions in exon 20 of the EGFR gene, among other alterations. We carried out an external quality assessment (EQA) to evaluate the accuracy of labo...