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Neutrophilic dermatosis in a patient with an IKZF1 variant and a review of monogenic autoinflammatory disorders presenting with neutrophilic dermatoses [Case Report]

Guirguis, Justina; Iosim, Sonia; Jones, Derek; Likhite, Maryel; Chen, Fei; Kesserwan, Chimene; Gindin, Tatyana; Kahn, Philip J; Beck, David; Oza, Vikash S; Hillier, Kirsty
Monogenic diseases of immune dysregulation should be considered in the evaluation of children presenting with recurrent neutrophilic dermatoses in association with systemic signs of inflammation, autoimmune disease, hematologic abnormalities, and opportunistic or recurrent infections. We report the case of a 2-year-old boy presenting with a neutrophilic dermatosis, found to have a novel likely pathogenic germline variant of the IKAROS Family Zinc Finger 1 (IKZF1) gene; the mutation likely results in a loss of function dimerization defective protein based on reports and studies of similar variants. IKZF1 variants could potentially lead to aberrant neutrophil chemotaxis and development of neutrophilic dermatoses. Long-term surveillance is required to monitor the development of hematologic malignancy, autoimmunity, immunodeficiency, and infection in patients with pathogenic IKZF1 germline variants.
PMID: 38413050
ISSN: 1525-1470
CID: 5634772

HPV Cotesting of Unsatisfactory Papanicolaou Tests: Implications for Follow-up Intervals

Chen, Fei; Hsu Lin, Lawrence; Hindi, Issa; Sun, Wei; Shafizadeh, Negin; Szeto, Oliver; Brandler, Tamar C; Simsir, Aylin
OBJECTIVES/OBJECTIVE:The 2019 American Society of Colposcopy and Cervical Pathology management guidelines recommend that patients with an unsatisfactory Papanicolaou (Pap) test (UPT) and negative human papillomavirus (HPV) cotest undergo repeat age-based screening in 2 to 4 months. The rationale is that a negative HPV test in the setting of an UPT may reflect an inadequate sample and therefore should not be interpreted as truly "negative." For patients 25 years and older who are cotested, if HPV is positive for the 16 or 18 genotypes, direct referral for colposcopy is recommended. Our study aimed to determine if a negative HPV cotest result is predictive of the absence of a high-grade squamous intraepithelial lesion (HSIL) and whether these patients may be called back for repeat testing at an interval longer than 2 to 4 months. METHODS:Follow-up cervical cytology and biopsy results in women with UPT and HPV cotests from January 2017 to December 2021 were collected. Original UPT and HPV cotest results were correlated with the follow-up Pap and biopsy results. RESULTS:There were 1,496 (2.28%) UPT cases out of 65,641 total Pap tests. Among the 1,496 UPT cases, 1,010 (67.5%) had HPV cotesting; 676 (45.1%) were followed by repeat Pap or biopsy within 4 months and 850 (56.8%) within 12 months. The total follow-up rate was 81%, with a range of 3 days to 36 months. The HSIL rate in HPV-positive cases was 5.7% (3/53) vs 0.4% (2/539) (P = .006) in HPV-negative cases. In UPT, HPV cotesting showed negative predictive values for low-grade and high-grade squamous intraepithelial lesion detection of 98.5% and 99.6%, respectively, while positive predictive values were 19% and 5.7%. CONCLUSIONS:A negative HPV cotest in individuals with UPT predicted the lack of HSIL in our study. Compliance with the recommended follow-up time of 2 to 4 months for women with UPT was low (45.1%). Our study suggests that women with UPT and negative HPV cotest may be safely called back at an interval longer than 4 months.
PMID: 37052613
ISSN: 1943-7722
CID: 5479502

Genomic Profiling of Metastatic Tumors in Pleural Effusion Specimens: Comparison of Fresh Supernatant, Fresh Cell Pellet, and Cell Block Material for Testing [Meeting Abstract]

Chen, Fei; Belovarac, Brendan; Shen, Guomiao; Feng, Xiaojun; Brandler, Tamar; Jour, George; Sun, Wei; Snuderl, Matija; Park, Kyung; Simsir, Aylin
ISI:000990969800303
ISSN: 0023-6837
CID: 5525432

Utility of Urine Cytology Specimens for Molecular Profiling in Detection of High-Grade Urothelial Carcinoma [Meeting Abstract]

Chen, Fei; Belovarac, Brendan; Shen, Guomiao; Feng, Xiaojun; Jour, George; Sun, Wei; Snuderl, Matija; Simsir, Aylin; Park, Kyung
ISI:000990969800304
ISSN: 0023-6837
CID: 5525442

Liver fluke eggs in bile duct brush cytology: An unexpected diagnosis during evaluation of a biliary stricture

Chen, Fei; Aguero-Rosenfeld, Maria; Simsir, Aylin; Brandler, Tamar C
Clonorchis sinensis, a liver fluke parasite, infects humans through ingestion of raw or undercooked fish, crabs, or crayfish in endemic areas where the parasite is found. Clonorchis sinensis infects the liver, gallbladder, and bile duct in humans, causing Clonorichiasis. Although the majority of patients are asymptomatic, long-lasting infections may cause severe disease. Without treatment, human infection may persist for the parasite's lifespan (25-30 years). Pathologic diagnosis can be challenging as sampling may demonstrate limited cellularity with minuscule eggs that may be overlooked. Here, we report a rare case of liver fluke eggs diagnosed in bile duct brush cytology.
PMID: 35984297
ISSN: 1097-0339
CID: 5300282

Comparison of the clinicopathologic features of prostate cancer in US and Chinese populations

Zhang, Lei; Liu, Xiaoyan; Xia, Rong; Chen, Fei; Wang, Xin; Bao, Jia; Shao, Yongzhao; Lu, Xian; Wang, Yan; Wang, Jili; Tun, May Thu; Melamed, Jonathan; Lepor, Hebert; Deng, Fang-Ming; Wang, Dongwen; Ren, Guoping
BACKGROUND:Prostate cancer (PCa) is the most common malignant tumor found among men in the United States. Incidence rates of PCa have recently grown in Asian countries, partially due to the comprehensive implementation of early detection systems. Interestingly, a prospective cohort study showed that adopting a westernized dietary pattern was associated with a higher risk of being diagnosed with PCa among Korean and Japanese men. However, a comparison of current clinicopathological features of PCa between American and Chinese men is lacking. In this study, we report the current clinicopathological features of PCa in Chinese men and compare them to those of patients in the USA. MATERIALS AND METHODS/METHODS:Case cohorts included, in total, 871 PCa cases with prostatectomy sequentially treated since 2017, including 299 cases from USA and 572 cases from two different academic hospitals in China. The parameters, including patient's age, preoperative Prostate-Specific Antigen (PSA) level, Gleason score, Grade Group, stage and tumor focality, were collected, analyzed and compared using two sample t-test, Wilcoxon rank sum test, Pearson's Chi-squared test and Fisher's exact test. RESULTS:Significant differences were demonstrated in the mean age of patients, preoperative PSA levels, extra-prostatic extension, Gleason scores, and Grade Groups (p < 0.05). PCa patients in the Chinese group were older than patients in the USA group (67.81 vs. 63.53, p < 0.01). The preoperative PSA levels in the Chinese group were higher than those in the USA group (11.69 v.s 6.30, p < 0.01). A higher percentage of high Grade Groups (Groups 4 and 5) was observed in the Chinese group (25.7%) compared to the USA cohort (17.11%), while Grade Group 2 was more common in the USA group than in the Chinese group (51.68% vs. 32.52%, p < 0.01). CONCLUSIONS:All these data suggest that the clinicopathologic features of PCa are different between the USA and Chinese populations, which may be influenced by treatment strategies (including surgical case selection criteria).
PMID: 35525175
ISSN: 1618-0631
CID: 5216582

The Paris System for Reporting Urinary Cytology: An Updated Review

Chen, Fei; Xiaoqui, Lin
ORIGINAL:0017002
ISSN: 2771-165x
CID: 5545442

Methylation Profiling of Papillary Renal Neoplasm with Reverse Polarity [Meeting Abstract]

Park, Kyung; Serrano, Jonathan; Tran, Ivy; Feng, Xiaojun; Chen, Fei; Vasudevaraja, Varshini; Mirsadraei, Leili; Snuderl, Matija; Deng, Fang-Ming
ISI:000770360201237
ISSN: 0023-6837
CID: 5208632

Methylation Profiling of Papillary Renal Neoplasm with Reverse Polarity [Meeting Abstract]

Park, Kyung; Serrano, Jonathan; Tran, Ivy; Feng, Xiaojun; Chen, Fei; Vasudevaraja, Varshini; Mirsadraei, Leili; Snuderl, Matija; Deng, Fang-Ming
ISI:000770361801237
ISSN: 0893-3952
CID: 5208642

Comparison of Fresh Cell Pellets and Cell Blocks for Genomic Profiling of Advanced Cancers in Pleural Effusion Specimens: Promising Preliminary Results from a Validation Study [Meeting Abstract]

Chen, Fei; Kim, Christine; Shen, Guomiao; Feng, Xiaojun; Jour, George; Cotzia, Paolo; Brandler, Tamar; Sun, Wei; Snuderl, Matija; Simsir, Aylin; Park, Kyung
ISI:000770360200230
ISSN: 0023-6837
CID: 5243162