An unusual phenotype occurs in 15% of mismatch repair-deficient tumors and is associated with non-colorectal cancers and genetic syndromes [0.03%]
15%的错配修复缺陷肿瘤出现一种异常表型，与非结直肠癌和遗传综合征相关
Marion Jaffrelot,Nadim Farés,Anne Cécile Brunac et al.
Marion Jaffrelot et al.
Immunohistochemistry (IHC) and/or MSI-PCR (microsatellite instability-polymerase chain reaction) tests are performed routinely to detect mismatch repair deficiency (MMR-D). Classical MMR-D tumors present a loss of MLH1/PMS2 or MSH2/MSH6 wit...
Germline and sporadic mTOR pathway mutations in low-grade oncocytic tumor of the kidney [0.03%]
肾脏低级别瘤样肿瘤的生殖系与散发性mTOR通路突变
Payal Kapur,Ming Gao,Hua Zhong et al.
Payal Kapur et al.
Low-grade oncocytic tumor (LOT) of the kidney is a recently described entity with poorly understood pathogenesis. Using next-generation sequencing (NGS) and complementary approaches, we provide insight into its biology. We describe 22 LOT c...
Jaclyn F Hechtman
Jaclyn F Hechtman
Since the discovery of an oncogenic tropomyosin-receptor kinase (TRK) fusion protein in the early 1980s, our understanding of neurotrophic tropomyosin-receptor kinase (NTRK) fusions, their unique patterns of frequency in different tumor typ...
Andrew Churg
Andrew Churg
The clinical and pathologic diagnosis of hypersensitivity pneumonitis has been confounded by conflicting definitions, with two recent guidelines suggesting that hypersensitivity pneumonitis simply be diagnosed as nonfibrotic or fibrotic. No...
Molecular characterization of pleomorphic mesothelioma: a multi-institutional study [0.03%]
多形性间皮瘤的分子特征：一项多机构的研究
Somak Roy,Françoise Galateau-Sallé,Nolwenn Le Stang et al.
Somak Roy et al.
The molecular alterations of pleomorphic mesotheliomas are largely unknown. In the present study, we performed whole-exome sequencing (WES) on 24 pleomorphic mesotheliomas in order to better characterize the molecular profile of this rare h...
Low-grade oncocytic renal tumor (LOT): mutations in mTOR pathway genes and low expression of FOXI1 [0.03%]
低级别癌细胞肾肿瘤(LOT)：mTOR信号通路基因突变和FOXI1表达降低
Aurélien Morini,Tom Drossart,Marc-Olivier Timsit et al.
Aurélien Morini et al.
Low-grade oncocytic renal tumor (LOT) is an emerging provisional entity, described as rare solid renal oncocytic/eosinophilic tumor sharing diffuse CK7 and negative CD117 immunoprofile. The links between LOT and other eosinophilic chromopho...
Eosinophilic vacuolated tumor (EVT) of kidney demonstrates sporadic TSC/MTOR mutations: next-generation sequencing multi-institutional study of 19 cases [0.03%]
肾脏嗜酸性空泡样肿瘤(EVT)显示出散发的TSC/MTOR突变：下一代测序对来自多个机构的19例病例的研究
Mihaela Farcaş,Zoran Gatalica,Kiril Trpkov et al.
Mihaela Farcaş et al.
A distinct renal tumor has recently been described as "high-grade oncocytic renal tumor" and "sporadic renal cell carcinoma with eosinophilic and vacuolated cytoplasm". The Genitourinary Pathology Society (GUPS) consensus proposed a unifyin...
Jennifer M Boland
Jennifer M Boland
Most pathologists are well versed in the diagnosis of lung cancer, given the common nature of the disease. Occasionally more unusual neoplasms are encountered in lung biopsies and resections, which may be difficult to distinguish from "run ...
Pancreatic ductal adenocarcinomas associated with intraductal papillary mucinous neoplasms (IPMNs) versus pseudo-IPMNs: relative frequency, clinicopathologic characteristics and differential diagnosis [0.03%]
与粘液乳头状瘤(IPMN)相关的胰腺导管腺癌与假性IPMN：相对频率、临床病理特征及鉴别诊断
Takashi Muraki,Kee-Taek Jang,Michelle D Reid et al.
Takashi Muraki et al.
The literature is highly conflicted on what percentage of pancreatic ductal adenocarcinomas (PDACs) arise in association with intraductal papillary mucinous neoplasms (IPMNs). Some studies have claimed that even small (Sendai-negative) IPMN...
Sweat-gland carcinoma with neuroendocrine differentiation (SCAND): a clinicopathologic study of 13 cases with genetic analysis [0.03%]
汗腺癌伴神经内分泌分化（SCAND）：包含13个病例的临床病理研究及基因分析
Keisuke Goto,Yoji Kukita,Keiichiro Honma et al.
Keisuke Goto et al.
Low-grade neuroendocrine carcinoma of the skin (LGNECS) was proposed in 2017 as a new primary cutaneous neoplasm with neuroendocrine differentiation; however, it is not yet well known due to its rarity. Herein, we perform a detailed clinico...