Molecular pathology selected abstracts
January 2026—Two studies investigated the use of DNA methylation patterns and sex-specific gene expression in neuroendocrine neoplasms (NEN) and Alzheimer disease, respectively.
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Abstracts
Anatomic pathology selected abstracts
December 2025—Unusual morphologic patterns of breast carcinoma can raise diagnostic consideration for metastasis or special breast cancer subtypes and, thereby, impact clinical management and treatment. The authors conducted a study in which they described rare invasive breast cancers that mimic serous carcinoma of the gynecologic tract (serous-like breast carcinomas, SLBC) and characterized their clinicopathologic, immunophenotypic, and genetic features. The patients evaluated in the study were female (n = 15; median age, 49 years) and did not have a history of gynecologic malignancy. SLBC were characterized histologically by angulated, branched, sometimes anastomosing glands with micropapillary or pseudopapillary luminal projections in desmoplastic stroma. Most SLBC were triple negative (n = 10) or HER2 positive (n = 2) and grade 2 or 3, while some were estrogen receptor low positive/HER2 negative and low grade (n = 3). CK5/6 was positive irrespective of grade or receptor status (10 of 10).
Molecular pathology selected abstracts
December 2025—Two studies explore the evolution of Mycobacterium tuberculosis and the significance of GATA1 mutations in children with Down syndrome. The first study reveals diversity in virulence gene expression across Mtb clinical isolates, with variants in the regulator whiB6 linked to decreased expression of virulence factors and increased transmission of drug-resistant strains. The second study investigates the clinical significance of GATA1 mutations in neonates with Down syndrome, finding that the presence of GATA1s mutations at birth is a strong predictor of myeloid leukemia associated with Down syndrome (ML-DS).
Clinical pathology selected abstracts
November 2025—A study analyzed data from 6,068 individuals who received a commercial blood-based CRC screening test between May 2022 and September 2024. The study found that 49% of individuals with an abnormal result received a follow-up colonoscopy within six months, with a mean time of 66.4 days.
Anatomic pathology selected abstracts
November 2025—A HER2-low–focused IHC scoring system was validated by nine breast pathologists using digitized images of HER2 IHC slides. The system demonstrated high performance metrics, including accuracy, sensitivity, and specificity, across two data sets, validating its effectiveness.
Molecular pathology selected abstracts
November 2025—A study of four laboratories’ experiences with subclassifying variants of uncertain significance (VUS) found that variants were more likely to be reclassified as benign than pathogenic. The VUS-high subclass had the highest percentage of reclassifications, but represented a smaller proportion of total VUS classifications.
Clinical pathology selected abstracts
October 2025—Whole genome sequencing is being evaluated in newborn screening to increase the diagnosis and treatment of rare clinical conditions. Such screening raises ethical questions about which results to report and the impact of those results on parents and their children. It is important to focus on societal norms when designing whole genome sequencing–newborn screening (WGS-NBS) to make sure people accept the testing and minimize patient harm. Although parents value the fact that WGS-NBS can lead to early diagnosis and treatment of various conditions, they recognize that results may cause psychological distress, eliminate children’s autonomy, raise data-storage and privacy concerns, and lead to uncertainty regarding adult-onset medical conditions. The public, in general, supports WGS-NBS for clinically actionable childhood-onset conditions, with the caveats that health professionals are trained to interpret such results and genetic counseling is available.
Anatomic pathology selected abstracts
October 2025—Crystal-storing histiocytosis is a rare disorder in which crystals accumulate in the cytoplasm of histiocytes. It is usually associated with a lymphoplasmacytic neoplasm. Cutaneous crystal-storing histiocytosis (CSH) is extraordinarily rare and limited to case reports in the literature. The authors reported on two cases of CSH with cutaneous involvement. Case one was a 65-year-old male with a four-month history of a pruritic eruption that started as a solitary pink to skin-colored indurated plaque on the anterior neck before progressing to involve the whole neck, chest wall, and face.
Molecular pathology selected abstracts
October 2025—GATA2 deficiency is a rare inherited condition that disrupts the normal development of blood and immune cells. People born with this genetic disorder may experience low blood counts, frequent infections, or such problems as lymphedema and hearing loss. The most serious long-term risk is development of myelodysplastic syndrome (MDS), a bone marrow disorder that can progress to leukemia. The authors conducted a large study in which they followed 218 people with confirmed GATA2 mutations to understand when and how MDS develops. In this cohort, symptoms of GATA2 deficiency were present in 205 of the participants, of whom 187 (91.2 percent) had MDS.
Pathology informatics selected abstracts
October 2025—Large language models are becoming commonplace for personal and business use. The health care community is leveraging large language models (LLMs) for various purposes. Researchers at the University Medical Center Hamburg-Eppendorf, Hamburg, Germany, have successfully used open-source LLMs to extract critical medical data from pathology reports. They conducted a study that demonstrated how LLMs can transform unstructured clinical text into structured pathology data. While pathology reports are rich in information about tumor type, size, and stage, their narrative format makes automated data extraction difficult.