Browsing by Author "De la Sancha, Carlo"

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    Artificial intelligence reveals features associated with breast cancer neoadjuvant chemotherapy responses from multi-stain histopathologic images
    (Springer Nature, 2023-01-27) Huang, Zhi; Shao, Wei; Han, Zhi; Alkashash, Ahmad Mahmoud; De la Sancha, Carlo; Parwani, Anil V.; Nitta, Hiroaki; Hou, Yanjun; Wang, Tongxin; Salama, Paul; Rizkalla, Maher; Zhang, Jie; Huang, Kun; Li, Zaibo; Electrical and Computer Engineering, School of Engineering and Technology
    Advances in computational algorithms and tools have made the prediction of cancer patient outcomes using computational pathology feasible. However, predicting clinical outcomes from pre-treatment histopathologic images remains a challenging task, limited by the poor understanding of tumor immune micro-environments. In this study, an automatic, accurate, comprehensive, interpretable, and reproducible whole slide image (WSI) feature extraction pipeline known as, IMage-based Pathological REgistration and Segmentation Statistics (IMPRESS), is described. We used both H&E and multiplex IHC (PD-L1, CD8+, and CD163+) images, investigated whether artificial intelligence (AI)-based algorithms using automatic feature extraction methods can predict neoadjuvant chemotherapy (NAC) outcomes in HER2-positive (HER2+) and triple-negative breast cancer (TNBC) patients. Features are derived from tumor immune micro-environment and clinical data and used to train machine learning models to accurately predict the response to NAC in breast cancer patients (HER2+ AUC = 0.8975; TNBC AUC = 0.7674). The results demonstrate that this method outperforms the results trained from features that were manually generated by pathologists. The developed image features and algorithms were further externally validated by independent cohorts, yielding encouraging results, especially for the HER2+ subtype.
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    Genetic Alterations in Invasive Breast Carcinoma with a Glycogen-Rich Clear Cell Pattern: A Case Report
    (Karger, 2021-03-22) De la Sancha, Carlo; Ruiz-Cordero, Roberto; Popnikolov, Nikolay; Pathology and Laboratory Medicine, School of Medicine
    Invasive carcinoma with a glycogen-rich clear cell pattern (IC-GRCCP) is a rare and understudied subtype of invasive breast carcinoma of no special type (IBC-NST). Here we report the molecular characteristics of a mammary IC-GRCCP diagnosed in a 69-year-old woman. Next-generation sequencing of the tumor revealed an inv(1)(p36.12,q32.1) leading to loss-of-function of ARID1A gene, a MAP2K4 truncating mutation (p.E376), MYC amplification, a variant of uncertain significance of PTPRB gene (p.D1848N) and deep deletions of NCKAP5, CCNT2, MAP3K19, LRP1B, and KMT2A. The analysis of the involved pathways shows close resemblance to the ovarian clear cell carcinoma and indicates similarities in the molecular mechanisms of development of glycogen-rich clear cell carcinomas in different organs. Our findings and the literature review suggest new potential strategies for treatment of mammary IC-GRCCP, including epigenetic therapies, checkpoint inhibitors, radiation, or other double-strand DNA breaks-inducing agents. Nevertheless, larger studies are needed to substantiate those ideas.
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    IgA Nephropathy in the Setting of Anti-TNF-α Therapy for Inflammatory Bowel Disease
    (Wolters Kluwer, 2020-09-01) Strobel, Thomas; Ahmed, Waseem; De la Sancha, Carlo; Bohm, Matthew; Fischer, Monika; Medicine, School of Medicine
    Tumor necrosis factor-α (TNF-α)-inhibiting agents are a standard therapy for moderate-to-severe inflammatory bowel disease (IBD). IgA nephropathy in the setting of prolonged exposure to TNF-α inhibitors is a rare, clinically significant adverse event often overlooked by gastroenterologists but well documented in the rheumatologic literature. We present a case series of 3 patients with IBD on TNF-α inhibitors who developed biopsy-proven IgA nephropathy. Clinicians prescribing TNF-α inhibitors to patients with IBD need to be aware of this potential side effect. Therapies with alternative mechanisms of action should instead be considered.
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    Primary cutaneous peripheral T-cell lymphoma, not otherwise specified with mammalian target of rapamycin mutation: A novel finding for targeted treatment
    (Elsevier, 2020-12) De la Sancha, Carlo; Burgin, Callie; Warren, Simon; Hoffmann, Kristin; Davé, Utpal; Nassiri, Mehdi; Pathology and Laboratory Medicine, School of Medicine
    Primary cutaneous peripheral T-cell lymphoma, not otherwise specified (pcPTCL-NOS) is a rare, progressive, and often fatal disease with no specific treatment regimen that presents as rapidly enlarging plaques or nodules. Here, we present a case of progressive pcPTCL-NOS with mammalian target of rapamycin (mTOR) mutation and variable T-cell antigen expression. mTOR mutation in pcPTCL-NOS may represent a new therapeutic target.
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    The Role of Fluorescence In Situ Hybridization in Pancreatobiliary Brushing Cytology: A Large Retrospective Review with Histologic Correlation
    (MDPI, 2022-10-14) Khan, Jaffar; De la Sancha, Carlo; Saad, Mohammed; Alkashash, Ahmad; Ullah, Asad; Alruwaii, Fatimah; Velasquez Zarate, Luis; Cramer, Harvey M.; Wu, Howard H.; Pathology and Laboratory Medicine, School of Medicine
    (1) Background: Although the specificity of brush cytology for the detection of malignant pancreaticobiliary strictures is high, its sensitivity is low. Fluorescence in situ hybridization (FISH) can be used to detect chromosomal aneuploidy in biliary brushing specimens, and when used as an adjunct to routine cytology, it significantly improves diagnostic sensitivity. (2) Methods: We searched our laboratory information system to identify all bile duct brush cytology cases with follow-up surgical pathology between January 2001 and September 2019. Cytologic diagnoses were classified as negative, atypical, suspicious, or malignant. Correlated surgical pathological diagnoses were classified as benign or malignant. FISH test results were obtained for a subset of cytology cases with concurrent FISH testing, and the sensitivity, specificity, positive predictive value, and negative predictive value in identifying malignancy for cytology alone, FISH alone, and combined cytology and FISH were calculated. (3) Results: A total of 1017 brushing cytology cases with histologic correlation were identified. A total of 193 FISH tests were performed concurrently with cytological specimens. Malignant diagnoses were identified in 623 of 1017 patients, while 394 patients had benign strictures. The sensitivity, specificity, positive predictive, and negative predictive rate were 65%, 78%, 83%, and 49% for cytology alone; 72%, 67%, 63%, and 68% for FISH alone; and 85%, 42%, 60%, and 74% for combined cytology and FISH, respectively. Among FISH-positive cases, the risk of malignancy for polysomy was 82% and 32% for trisomy. (4) Conclusions: FISH improves the sensitivity and negative predictive rate of bile duct brush cytology. The combination of cytology and FISH has increased the sensitivity from 65% to 85% and the negative predictive rate from 49% to 74% when compared to cytology alone. A patient with a polysomy FISH result had a significantly higher risk of malignancy than a patient with a trisomy 7 result (82% vs. 32%, p < 0.00001).