A scoping review and meta-analysis on the prevalence of pan-tumour biomarkers (dMMR, MSI, high TMB) in different solid tumours

YJ Kang, S O'Haire, F Franchini, M IJzerman… - Scientific reports, 2022 - nature.com
Immune checkpoint inhibitors have been approved in the USA for tumours exhibiting
mismatch repair deficiency (dMMR), microsatellite instability (MSI), or high tumour …

Mismatch repair and microsatellite instability testing for immune checkpoint inhibitor therapy: guideline from the College of American Pathologists in collaboration with …

AN Bartley, AM Mills, E Konnick… - … of pathology & …, 2022 - meridian.allenpress.com
Context.—The US Food and Drug Administration (FDA) approved immune checkpoint
inhibitor therapy for patients with advanced solid tumors that have DNA mismatch repair …

How should we test for Lynch syndrome? A review of current guidelines and future strategies

R Gallon, P Gawthorpe, RL Phelps, C Hayes… - Cancers, 2021 - mdpi.com
Simple Summary Carriers of Lynch syndrome (LS) have an increased risk for several types
of tumour, in particular bowel and uterine cancers. LS is caused by inheritance of a faulty …

FGFR2 Extracellular Domain In-Frame Deletions Are Therapeutically Targetable Genomic Alterations That Function as Oncogenic Drivers in Cholangiocarcinoma

JM Cleary, S Raghavan, Q Wu, YY Li, LF Spurr… - Cancer discovery, 2021 - AACR
We conducted next-generation DNA sequencing on 335 biliary tract cancers and
characterized the genomic landscape by anatomic site within the biliary tree. In addition to …

[HTML][HTML] SMARCA4 mutations in carcinomas of the esophagus, esophagogastric junction, and stomach

AJ Neil, L Zhao, RA Isidro, A Srivastava, JM Cleary… - Modern Pathology, 2023 - Elsevier
Deficiency of SMARCA4, a member of the SWI/SNF chromatin remodeling complex, has
been described in a subset of undifferentiated gastroesophageal carcinomas with an …

Genomic analysis of spermatocytic tumors demonstrates recurrent molecular alterations in cases with malignant clinical behavior

S Gupta, LM Sholl, Y Yang, AO Osunkoya… - The Journal of …, 2024 - Wiley Online Library
Spermatocytic tumor (ST) is a rare type of germ cell tumor that occurs exclusively in the
postpubertal testis and typically affects elderly men. Most STs are benign, but rare cases …

Inflammatory and nested testicular sex cord tumor: a novel neoplasm with aggressive clinical behavior and frequent EWSR1:: ATF1 gene fusions

AM Acosta, JA Bridge, PS Dal Cin… - The American Journal …, 2023 - journals.lww.com
A subset of malignant testicular sex cord tumors (TSCTs), heretofore interpreted as Sertoli
cell tumors, not otherwise specified, exhibits distinctive morphologic features that partially …

Molecular correlates of male germ cell tumors with overgrowth of components resembling somatic malignancies

N Wyvekens, LM Sholl, Y Yang, I Tran… - Modern …, 2022 - nature.com
A small subset of male germ cell tumors (GCT) demonstrates overgrowth of histologic
components that resemble somatic malignancies (eg, sarcoma, carcinoma). The presence of …

[HTML][HTML] Molecular correlates of aggressive behavior and biological progression in testicular Sertoli cell tumors

NM Rizzo, LM Sholl, CS Kao, KM Cornejo, AR Sangoi… - Modern Pathology, 2023 - Elsevier
Sertoli cell tumor (SCT) is the second most common type of sex cord-stromal tumor in men,
and∼ 10% exhibit malignant behavior. Although CTNNB1 variants have been described in …

[HTML][HTML] Clinicopathologic and molecular spectrum of testicular sex cord-stromal tumors not amenable to specific histopathologic subclassification

SE Siegmund, LM Sholl, HK Tsai, Y Yang… - Modern Pathology, 2022 - Elsevier
A subset of testicular sex cord-stromal tumors (SCST), which includes neoplasms with mixed
histology, cannot be classified into a specific histologic subtype. This study evaluated the …