Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. We examined region specific genotype-phenotype associations and found unpredictability associated with 22q11.2 duplications in these nine patients. K E Y W O R D S chromosome 22q11.2, chromosome microarray, genotype-phenotype correlation, microduplication

Calcifying fibrous tumor (CFT) is a rare mesenchymal lesion that has been documented throughout the gastrointestinal tract. Gastrointestinal CFTs may occur at virtually any age, with a predilection for adults and for females. They occur most commonly in the stomach and the small and large intestines. CFTs are most often found incidentally, cured by local resection, and have a low risk of recurrence. Histology shows three characteristic features: Spindle cell proliferations within a densely hyalinized stroma, scattered calcifications, and lymphoplasmacytic inflammation. CFTs are immunoreactive for CD34, vimentin and factor XIIIa, helping to distinguish them from other benign mesenchymal neoplasms. The differential diagnosis of CFTs includes sclerosing gastrointestinal stromal tumor, leiomyoma, schwannoma, solitary fibrous tumor, inflammatory myofibroblastic tumor, plexiform fibromyxoma, fibromatosis, sclerosing mesenteritis, and reactive nodular fibrous pseudotumor. The pathogenesis of CFTs remains unclear, but some have hypothesized that they may be linked to IgG4-related disease, inflammatory myofibroblastic lesions, hyaline vascular type Castleman disease, sclerosing angiomatoid nodular transformation of the spleen, or trauma.

Current guidelines indicate that in patients with developmental disabilities or congenital anomalies, chromosomal microarray (CMA) is a first-tier diagnostic test. However, for patients with obvious chromosomal syndromes such as trisomy 13, 18, and 21, G-banded karyotyping is still recommended over CMA for establishing a diagnosis. In the case presented herein, a female neonate was suspected of having trisomy 18 based on pre- and postnatal evaluations. Karyotyping was requested but not performed due to insufficient cell growth; Interphase fluorescence in situ hybridization (i-FISH) found an extra copy of chromosome 18. CMA analysis uncovered gain of chromosome 18 and an additional duplication in chromosome 22q11.2, which went undetected with FISH. Our patient died within 40 hours after birth, but it is expected that patients with recognizable chromosomal syndromes could benefit from the discovery of coexisting copy number variations (CNVs) using CMA. This case shows that CMA can be a useful test for patients with recognizable chromosomal syndromes because of the potential benefits for patients and their families when co-existing CNVs are found.

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Objectives Peripheral blood smear (PBS) interpretation represents a cornerstone of pathology practice and resident training but has remained largely static for decades. Here, we describe a novel PBS interpretation support tool. Methods In a mixed-methods quality improvement study, a web-based clinical decision support (CDS) tool to assist pathologists in PBS interpretation, PROSER, was deployed in an academic hospital over a 2-month period in 2022. PROSER interfaced with the hospital system’s electronic health record and data warehouse to obtain and display relevant demographic, laboratory, and medication information for patients with pending PBS consults. PROSER used these data along with morphologic findings entered by the pathologist to draft a PBS interpretation using rule-based logic. We evaluated users’ perceptions of PROSER with a Likert-type survey. Results PROSER displayed 46 laboratory values with corresponding reference ranges and abnormal flags, allowed for entry of 14 microscopy findings, and computed 2 calculations based on laboratory values; it composed automated PBS reports using a library of 92 prewritten phrases. Overall, PROSER was well received by residents. Conclusions In this quality improvement study, we successfully deployed a web-based CDS tool for PBS interpretation. Future work is needed to quantitatively evaluate this intervention’s effects on clinical outcomes and resident training.