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1.
BMC Nephrol ; 25(1): 200, 2024 Jun 18.
Article in English | MEDLINE | ID: mdl-38890600

ABSTRACT

Malakoplakia is a rare inflammatory disorder believed to result from a defect in macrophage phagocytic function triggering a granulomatous reaction. It can present with genitourinary, gastrointestinal, or cutaneous manifestations in immunocompromised or, less commonly, immunocompetent hosts. We describe a case of renal malakoplakia in a young, otherwise healthy patient presenting with nephromegaly and sepsis following an E. coli urinary tract infection. We discuss diagnosis and management, including antibiotic selection and the decision to pursue nephrectomy. This case highlights the potential for kidney recovery with prolonged antibiotic therapy in conjunction with adjunct immunomodulatory therapies and source control.


Subject(s)
Escherichia coli Infections , Malacoplakia , Urinary Tract Infections , Humans , Malacoplakia/complications , Malacoplakia/etiology , Urinary Tract Infections/complications , Urinary Tract Infections/drug therapy , Escherichia coli Infections/complications , Male , Anti-Bacterial Agents/therapeutic use , Adult , Female , Escherichia coli/isolation & purification
2.
AJR Am J Roentgenol ; 222(3): e2330548, 2024 03.
Article in English | MEDLINE | ID: mdl-38170831

ABSTRACT

A multidisciplinary physician team rated information provided by ChatGPT regarding breast pathologic diagnoses. ChatGPT responses were mostly appropriate regarding accuracy, consistency, definitions provided, and clinical significance conveyed. Responses were scored lower in terms of management recommendations provided, primarily related to low agreement with recommendations for high-risk lesions.

3.
Clin Lab Med ; 43(2): 299-321, 2023 06.
Article in English | MEDLINE | ID: mdl-37169447

ABSTRACT

Predictive biomarker testing on metastatic breast cancer is essential for determining patient eligibility for targeted therapeutics. The National Comprehensive Cancer Network currently recommends assessment of specific biomarkers on metastatic tumor subtypes, including hormone receptors, HER2, and BRCA1/2 mutations, on all newly metastatic breast cancers subtypes; programmed death-ligand 1 on metastatic triple-negative carcinomas; and PIK3CA mutation status on estrogen receptor-positive carcinomas. In select circumstances mismatch repair protein deficiency and/or microsatellite insufficiency, tumor mutation burden, and NTRK translocation status are also testing options. Novel biomarker testing, such as detecting PIK3CA mutations in circulating tumor DNA, is expanding in this rapidly evolving arena.


Subject(s)
Breast Neoplasms , Carcinoma , Humans , Female , Breast Neoplasms/diagnosis , Breast Neoplasms/genetics , Breast Neoplasms/therapy , BRCA1 Protein , BRCA2 Protein , Biomarkers, Tumor/genetics , Carcinoma/genetics
4.
Acad Pathol ; 9(1): 100059, 2022.
Article in English | MEDLINE | ID: mdl-36451746

ABSTRACT

Pathology interns face a steep learning curve as they transition from medical school to residency. Innovative teaching tools are needed to effectively and efficiently bridge this gap. We created four online learning modules geared toward pathology interns, for use at the beginning of the gastrointestinal pathology rotation at our institution. Our modules covered introductory esophageal, gastric, small bowel, and colonic pathology. Each module incorporated photomicrographs and annotated virtual slides, and included pre- and post-module assessment questions and a link to an anonymous survey. Twelve interns completed the modules between 9/20/2019 and 12/31/2021, including 80% of the 2020-2021 intern class. Significant improvement in performance was seen between the pre- and post-module questions for the stomach, small bowel, and colon modules (p < 0.05 for all), with a trend toward improved performance with the esophageal module. Interns rated the modules highly and indicated that they would recommend the modules to their peers. While the modules were geared toward interns, due to the coronavirus-19 pandemic we expanded access to the modules to include medical students. Medical students also found the learning modules valuable and requested more modules in the future. We conclude that online learning modules are an effective tool for teaching pathology interns and are well-received by this group. Online modules can also be seamlessly incorporated into asynchronous medical student teaching.

5.
Am J Surg Pathol ; 46(7): 878-888, 2022 07 01.
Article in English | MEDLINE | ID: mdl-35522890

ABSTRACT

Breast adenoid cystic carcinoma (AdCC) has overlapping features with basal-like triple-negative breast carcinoma (TNBC), yet carries a more favorable prognosis, and accurate diagnosis is critical. Like salivary gland AdCC, breast AdCC demonstrates recurrent alterations in the MYB gene. Novel chromogenic RNA in situ hybridization (ISH) for MYB has emerged as sensitive and specific for salivary gland AdCC. Here, we evaluate MYB RNA ISH in invasive ductal carcinomas (IDCs) including basal-like TNBC, and in the histologic mimics ductal carcinoma in situ (DCIS) and collagenous spherulosis. MYB RNA ISH was also performed on previously constructed tissue microarrays containing 78 evaluable IDC, including 30 basal-like TNBC (EGFR+ and/or CK5/6+), 19 luminal A (ER+/HER-2-), 12 HER-2+ (ER-/HER-2+), 11 non-basal-like TNBC, and 6 luminal B (ER+/HER-2+). MYB RNA ISH overexpression was seen in 100% (n=18/18) of primary breast AdCC and 10% (n=8/78) of IDC (P<0.0001). MYB RNA ISH was overexpressed in 37% (n=7/19) of luminal A and 8% (n=1/12) of HER-2+ IDC, and in no cases of TNBC or luminal B IDC. The majority (67%, n=8/12) of DCIS and all (n=7) cases of collagenous spherulosis demonstrated overexpression of MYB RNA. MYB gene rearrangement was detected in 67% (n=4/6) evaluable AdCC. Although MYB RNA ISH overexpression cannot be used to distinguish between cribriform DCIS or collagenous spherulosis and AdCC, MYB RNA ISH is absent in basal-like TNBC and rare in ER+ or HER-2+ IDC. MYB RNA ISH could be a useful, sensitive, and rapid diagnostic adjunct in the workup of a triple-negative carcinoma in the breast.


Subject(s)
Breast Neoplasms , Carcinoma, Adenoid Cystic , Carcinoma, Ductal, Breast , Carcinoma, Intraductal, Noninfiltrating , Salivary Gland Neoplasms , Triple Negative Breast Neoplasms , Biomarkers, Tumor/genetics , Breast Neoplasms/pathology , Carcinoma, Adenoid Cystic/diagnosis , Carcinoma, Adenoid Cystic/genetics , Carcinoma, Adenoid Cystic/pathology , Carcinoma, Ductal, Breast/pathology , Female , Humans , In Situ Hybridization , RNA , Salivary Gland Neoplasms/pathology , Triple Negative Breast Neoplasms/diagnosis , Triple Negative Breast Neoplasms/genetics , Triple Negative Breast Neoplasms/pathology
6.
Histopathology ; 81(1): 99-107, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35426462

ABSTRACT

AIMS: The sinonasal tract is a common extranodal site for Rosai-Dorfman disease (RDD). Recently, histiocytes with features of RDD were identified in the clinical setting of chronic sinusitis. This study evaluates whether this phenomenon should be considered part of the RDD spectrum or classified separately as RDD-like histiocytes. METHODS AND RESULTS: We prospectively collected 13 cases showing histological features of RDD in chronic sinusitis patients and identified 14 with similar findings (3.5%) via retrospective review of 403 sinus contents over 2 years. All 27 cases displayed nodular aggregates of eosinophilic histiocytes with intermixed lymphoplasmacytic inflammation, prominent eosinophils and emperipolesis. The histiocytes were positive for S100 protein and cyclin D1 and negative for CD1a and CD207. All patients presented with severe chronic sinusitis without tumour formation or systemic symptoms. Twelve patients with follow-up (55%) required repeat sinus surgery compared with just 43 other sinusitis patients evaluated (11%); features of RDD were present in their additional specimens. Two cases that underwent targeted next-generation sequencing (20%) had oncogenic mutations in NF1 and KEAP1. CONCLUSIONS: Overall, these findings confirm diagnostic histological and immunohistochemical features of RDD in a subset of chronic sinusitis specimens. While patients uniformly lack systemic involvement or tumefactive growth, they have a high risk of recurrent sinus disease. Although the relatively subtle nature of the findings raises consideration of separate classification, the presence of occasional oncogenic mutations and evidence of consistent MAPK/ERK pathway activation via cyclin D1 positivity suggests that this phenomenon represents a unique limited manifestation of RDD.


Subject(s)
Histiocytosis, Sinus , Sinusitis , Cyclin D1/metabolism , Histiocytosis, Sinus/diagnosis , Histiocytosis, Sinus/pathology , Humans , Kelch-Like ECH-Associated Protein 1/metabolism , NF-E2-Related Factor 2/metabolism , Sinusitis/diagnosis
7.
Surg Pathol Clin ; 15(1): 105-120, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35236627

ABSTRACT

Predictive biomarker testing on metastatic breast cancer is essential for determining patient eligibility for targeted therapeutics. The National Comprehensive Cancer Network currently recommends assessment of specific biomarkers on metastatic tumor subtypes, including hormone receptors, HER2, and BRCA1/2 mutations, on all newly metastatic breast cancers subtypes; programmed death-ligand 1 on metastatic triple-negative carcinomas; and PIK3CA mutation status on estrogen receptor-positive carcinomas. In select circumstances mismatch repair protein deficiency and/or microsatellite insufficiency, tumor mutation burden, and NTRK translocation status are also testing options. Novel biomarker testing, such as detecting PIK3CA mutations in circulating tumor DNA, is expanding in this rapidly evolving arena.


Subject(s)
Breast Neoplasms , Carcinoma , Biomarkers, Tumor/genetics , Biomarkers, Tumor/metabolism , Breast Neoplasms/diagnosis , Breast Neoplasms/genetics , Breast Neoplasms/therapy , Carcinoma/genetics , Female , Humans , Mutation
8.
JCI Insight ; 6(24)2021 12 22.
Article in English | MEDLINE | ID: mdl-34752419

ABSTRACT

BACKGROUND: Although aberrant glycosylation is recognized as a hallmark of cancer, glycosylation in clinical breast cancer (BC) metastasis has not yet been studied. While preclinical studies show that the glycocalyx coating of cancer cells is involved in adhesion, migration, and metastasis, glycosylation changes from primary tumor (PT) to various metastatic sites remain unknown in patients. METHODS: We investigated N-glycosylation profiles in 17 metastatic BC patients from our rapid autopsy program. Primary breast tumor, lymph node metastases, multiple systemic metastases, and various normal tissue cores from each patient were arranged on unique single-patient tissue microarrays (TMAs). We performed mass spectrometry imaging (MSI) combined with extensive pathology annotation of these TMAs, and this process enabled spatially differentiated cell-based analysis of N-glycosylation patterns in metastatic BC. RESULTS: N-glycan abundance increased during metastatic progression independently of BC subtype and treatment regimen, with high-mannose glycans most frequently elevated in BC metastases, followed by fucosylated and complex glycans. Bone metastasis, however, displayed increased core-fucosylation and decreased high-mannose glycans. Consistently, N-glycosylated proteins and N-glycan biosynthesis genes were differentially expressed during metastatic BC progression, with reduced expression of mannose-trimming enzymes and with elevated EpCAM, N-glycan branching, and sialyation enzymes in BC metastases versus PT. CONCLUSION: We show in patients that N-glycosylation of breast cancer cells undergoing metastasis occurs in a metastatic site-specific manner, supporting the clinical importance of high-mannose, fucosylated, and complex N-glycans as future diagnostic markers and therapeutic targets in metastatic BC. FUNDING: NIH grants R01CA213428, R01CA213492, R01CA264901, T32CA193145, Dutch Province Limburg "LINK", European Union ERA-NET TRANSCAN2-643638.


Subject(s)
Breast Neoplasms/genetics , Mannose/metabolism , Polysaccharides/metabolism , Adult , Aged , Breast Neoplasms/pathology , Female , Glycosylation , Humans , Middle Aged , Neoplasm Metastasis
9.
Acad Pathol ; 8: 23742895211037034, 2021.
Article in English | MEDLINE | ID: mdl-34485688

ABSTRACT

Pathologists who enter the workforce must have a diverse skill set beyond that of clinical diagnostics alone. Anticipating this need, the Johns Hopkins Pathology Residency Program developed Special Expertise Tracks to enhance training in relevant subspecialty domains. Using a combination of discussions and surveys, we assessed: (1) our current resident curriculum; (2) perceived curricular strengths and needs; (3) resident career preferences and ultimate career paths; (4) perceived barriers to implementing an advanced elective curriculum; and (5) available departmental/institutional resources. Additionally, we utilized the Accreditation Council for Graduate Medical Education Pathology Milestones as a curricular guide. Six professional residency training Special Expertise Tracks were established: Education, Physician-Scientist Research, Informatics, Quality Improvement/Quality Assurance/Value-Based Care, Health Policy/Hospital Management and Global Health. After implementation in 2017, the Education track has had 4 residents complete the curriculum successfully; the Physician-Scientist Research track has had 2 residents and the Informatics and Global Health tracks have each had one resident successfully complete their respective curricula. Currently, 5 residents are pursuing the Education track, one is pursuing the Physician-Scientist Research track, one is pursuing the Informatics track, and 2 residents are pursuing the Global Health track. Five residents have completed long-term projects including developing several e-learning modules, an online free digital cytopathology atlas, peer-reviewed articles, book chapters, and books. The Johns Hopkins Pathology Resident Special Expertise Track program provides pathology residents an opportunity to gain meaningful experience and additional skills tailored to their individual career interests.

10.
Arch Pathol Lab Med ; 145(9): 1071-1080, 2021 09 01.
Article in English | MEDLINE | ID: mdl-34015822

ABSTRACT

CONTEXT.­: Like many medical specialties, pathology faces the ongoing challenge of effectively enriching diversity, equity, and inclusion within training programs and the field as a whole. This issue is furthered by a decline in US medical student interest in the field of pathology, possibly attributable to increasingly limited pathology exposure during medical school and medical student perceptions about careers in pathology. OBJECTIVE.­: To review the literature to identify the challenges to diversity, equity, and inclusion in pathology, with an emphasis on the pathology trainee pipeline. To evaluate the medical education literature from other medical specialties for diversity and inclusion-focused studies and initiatives, and determine the outcomes and/or approaches relevant for pathology training programs. DATA SOURCES.­: A literature review was completed by a search of the PubMed database, as well as a similar general Google search. Additional resources, including the Web sites of the Association of American Medical Colleges, the Electronic Residency Application Service, and the National Resident Matching Program, were used. CONCLUSIONS.­: Many strategies exist to increase diversity and encourage an inclusive and equitable training environment, and many of these strategies may be applied to the field of pathology. Interventions such as increasing exposure to the field, using a holistic application review process, and addressing implicit biases have been shown to promote diversity, equity, and inclusion in many medical specialties. In addition, increasing access to elective and pipeline programs may help to bolster medical student interest in careers in pathology.


Subject(s)
Cultural Diversity , Education, Medical , Pathology/education , Personnel Selection , Social Inclusion , Humans
11.
Arch Pathol Lab Med ; 145(7): 814-820, 2021 07 01.
Article in English | MEDLINE | ID: mdl-33740819

ABSTRACT

CONTEXT.­: In the early months of the response to the coronavirus disease 2019 (COVID-19) pandemic, the Johns Hopkins University School of Medicine (JHUSOM) (Baltimore, Maryland) leadership reached out to faculty to develop and implement virtual clinical clerkships after all in-person medical student clinical experiences were suspended. OBJECTIVE.­: To develop and implement a digital slide-based virtual surgical pathology (VSP) clinical elective to meet the demand for meaningful and robust virtual clinical electives in response to the temporary suspension of in-person clinical rotations at JHUSOM. DESIGN.­: The VSP elective was modeled after the in-person surgical pathology elective to include virtual previewing and sign-out with standardized cases supplemented by synchronous and asynchronous pathology educational content. RESULTS.­: Validation of existing Web communications technology and slide-scanning systems was performed by feasibility testing. Curriculum development included drafting of course objectives and syllabus, Blackboard course site design, electronic-lecture creation, communications with JHUSOM leadership, scheduling, and slide curation. Subjectively, the weekly schedule averaged 35 to 40 hours of asynchronous, synchronous, and independent content, approximately 10 to 11 hours of which were synchronous. As of February 2021, VSP has hosted 35 JHUSOM and 8 non-JHUSOM students, who have provided positive subjective and objective course feedback. CONCLUSIONS.­: The Johns Hopkins VSP elective provided meaningful clinical experience to 43 students in a time of immense online education need. Added benefits of implementing VSP included increased medical student exposure to pathology as a medical specialty and demonstration of how digital slides have the potential to improve standardization of the pathology clerkship curriculum.


Subject(s)
COVID-19/prevention & control , Clinical Clerkship/methods , Education, Distance/methods , Education, Medical, Undergraduate/methods , Pathology, Surgical/education , Baltimore/epidemiology , COVID-19/epidemiology , Clinical Clerkship/organization & administration , Curriculum , Education, Distance/organization & administration , Education, Medical, Undergraduate/organization & administration , Humans , Pandemics , Pathology, Surgical/methods , Program Development
12.
Arch Pathol Lab Med ; 145(11): 1448-1452, 2021 11 01.
Article in English | MEDLINE | ID: mdl-33571371

ABSTRACT

CONTEXT.­: Endosalpingiosis is a benign Müllerian inclusion that can mimic metastatic low-grade mammary carcinoma, particularly when encountered in axillary lymph nodes excised for breast cancer staging. Immunohistochemistry can be useful in histologically ambiguous cases, and a targeted immunopanel should include a marker of gynecologic tract origin and a marker of mammary origin. GATA3 is a sensitive immunomarker for breast carcinoma, but the immunoreactivity of GATA3 in endosalpingiosis has not been systematically evaluated. OBJECTIVE.­: To evaluate whether GATA3 immunohistochemistry could be used to differentiate endosalpingiosis from metastatic mammary carcinoma. DESIGN.­: Whole slide sections of 15 cases of endosalpingiosis involving nonneoplastic tissues were subjected to GATA3 immunohistochemistry. Nuclear GATA3 labeling was scored as percentage and intensity labeling, with any labeling considered positive; GATA3 labeling was recorded in all cells present in the sections. RESULTS.­: Half (47%, n = 7 of 15) of the endosalpingiosis cases involved lymph nodes (2 axillary, 5 pelvic) and half (53%, n = 8 of 15) involved pelvic organs or soft tissue (3 myometrial, 2 paratubal, 2 periadnexal soft tissue, and 1 pelvic sidewall). GATA3 immunohistochemistry was negative in all cases of endosalpingiosis, with intact, positive control labeling in lymphocytes. The benign fallopian tube epithelium present on the sections of paratubal endosalpingiosis displayed focal (<5%), weak labeling for GATA3, specifically within the ciliated and secretory cells. CONCLUSIONS.­: These findings support the diagnostic utility of GATA3 immunohistochemistry and its use in a targeted immunopanel to resolve the differential diagnosis of metastatic low-grade mammary carcinoma (GATA3+) and nodal endosalpingiosis (GATA3-).


Subject(s)
Biomarkers, Tumor/analysis , Breast Neoplasms/chemistry , Carcinoma/chemistry , GATA3 Transcription Factor/analysis , Immunohistochemistry , Lymph Nodes/chemistry , Lymphatic Diseases/metabolism , Biopsy , Breast Neoplasms/pathology , Carcinoma/secondary , Diagnosis, Differential , Female , Humans , Lymph Node Excision , Lymph Nodes/pathology , Lymph Nodes/surgery , Lymphatic Diseases/pathology , Lymphatic Diseases/surgery , Lymphatic Metastasis , Predictive Value of Tests
13.
Cleft Palate Craniofac J ; 58(2): 260-268, 2021 02.
Article in English | MEDLINE | ID: mdl-32757776

ABSTRACT

Central giant cell granuloma is a benign, intraosseous lesion that may affect the pediatric craniofacial skeleton, particularly the mandible. When surgery is indicated, the role of the craniofacial surgeon is to ameliorate the sequelae of ablative surgery by restoring facial symmetry, ensuring appropriate postoperative occlusion, and allowing for adequate interincisal opening, all in the setting of a growing craniofacial skeleton. Herein, we report the case of a 3-year-old female presenting for reconstruction after resection of the right hemimandible proximal to the unerupted first permanent molar. We highlight the various reconstructive challenges associated with mandibular reconstruction during primary dentition and make a case for the use of a costochondral graft, with a successful outcome demonstrated at 2 years of follow-up.


Subject(s)
Granuloma, Giant Cell , Mandibular Reconstruction , Child , Child, Preschool , Dental Arch , Female , Granuloma, Giant Cell/diagnostic imaging , Granuloma, Giant Cell/surgery , Humans , Mandible , Tooth, Deciduous
14.
Am J Clin Pathol ; 154(4): 450-458, 2020 09 08.
Article in English | MEDLINE | ID: mdl-32785661

ABSTRACT

OBJECTIVES: This study assessed historical and current gender, racial, and ethnic diversity trends within US pathology graduate medical education (GME) and the pathologist workforce. METHODS: Data from online, publicly available sources were assessed for significant differences in racial, ethnic, and sex distribution in pathology trainees, as well as pathologists in practice or on faculty, separately compared with the US population and then each other using binomial tests. RESULTS: Since 1995, female pathology resident representation has been increasing at a rate of 0.45% per year (95% confidence interval [CI], 0.29-0.61; P < .01), with pathology now having significantly more females (49.8%) compared to the total GME pool (45.4%; P < .0001). In contrast, there was no significant trend in the rate of change per year in black or American Indian, Alaskan Native, Native Hawaiian, and Pacific Islander (AI/AN/NH/PI) resident representation (P = .04 and .02). Since 1995, underrepresented minority (URM) faculty representation has increased by 0.03% per year (95% CI, 0.024-0.036; P < .01), with 7.6% URM faculty in 2018 (5.2% Hispanic, 2.2% black, 0.2% AI/AN/NH/PI). CONCLUSIONS: This assessment of pathology trainee and physician workforce diversity highlights significant improvements in achieving trainee gender parity. However, there are persistent disparities in URM representation, with significant underrepresentation of URM pathologists compared with residents.


Subject(s)
Minority Groups/statistics & numerical data , Pathologists/trends , Pathology/trends , Physicians, Women/trends , Education, Medical, Graduate/statistics & numerical data , Education, Medical, Graduate/trends , Female , Humans , Male , Pathologists/statistics & numerical data , Pathology/statistics & numerical data , Physicians, Women/statistics & numerical data , United States
15.
Nat Commun ; 11(1): 1723, 2020 04 07.
Article in English | MEDLINE | ID: mdl-32265444

ABSTRACT

Metaplastic breast carcinoma (MBC) is a highly aggressive form of triple-negative cancer (TNBC), defined by the presence of metaplastic components of spindle, squamous, or sarcomatoid histology. The protein profiles underpinning the pathological subtypes and metastatic behavior of MBC are unknown. Using multiplex quantitative tandem mass tag-based proteomics we quantify 5798 proteins in MBC, TNBC, and normal breast from 27 patients. Comparing MBC and TNBC protein profiles we show MBC-specific increases related to epithelial-to-mesenchymal transition and extracellular matrix, and reduced metabolic pathways. MBC subtypes exhibit distinct upregulated profiles, including translation and ribosomal events in spindle, inflammation- and apical junction-related proteins in squamous, and extracellular matrix proteins in sarcomatoid subtypes. Comparison of the proteomes of human spindle MBC with mouse spindle (CCN6 knockout) MBC tumors reveals a shared spindle-specific signature of 17 upregulated proteins involved in translation and 19 downregulated proteins with roles in cell metabolism. These data identify potential subtype specific MBC biomarkers and therapeutic targets.


Subject(s)
Biomarkers, Tumor/metabolism , Carcinoma, Ductal, Breast/metabolism , Carcinoma, Squamous Cell/metabolism , Proteome/metabolism , Sarcoma/metabolism , Triple Negative Breast Neoplasms/metabolism , Adult , Aged , Aged, 80 and over , Animals , Biomarkers, Tumor/genetics , Carcinoma, Ductal, Breast/genetics , Carcinoma, Ductal, Breast/secondary , Carcinoma, Squamous Cell/genetics , Carcinoma, Squamous Cell/secondary , Epithelial-Mesenchymal Transition/genetics , Extracellular Matrix/genetics , Extracellular Matrix/metabolism , Female , Humans , Inflammation/metabolism , Metabolic Networks and Pathways/genetics , Metaplasia/genetics , Metaplasia/metabolism , Mice , Middle Aged , Mutation , Protein Biosynthesis/genetics , Proteome/genetics , Proteomics , Sarcoma/genetics , Sarcoma/secondary , Spindle Apparatus/genetics , Spindle Apparatus/metabolism , Triple Negative Breast Neoplasms/genetics , Triple Negative Breast Neoplasms/pathology
16.
Urol Case Rep ; 31: 101150, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32154115

ABSTRACT

Schwannomas of the prostate are exceedingly rare. We present a noteworthy case of a sporadic prostatic schwannoma diagnosed in conjunction with prostatic adenocarcinoma. A 60-year-old male presented with mild lower urinary tract symptoms and a prostate specific antigen (PSA) level of 4.84 ng/mL. A transrectal ultrasound guided prostate biopsy revealed multifocal Grade Group 2 prostate cancer. MRI demonstrated a PI-RADS 4 lesion and a periprostatic cystic lesion. Prostatectomy was performed. Final pathology demonstrated prostatic adenocarcinoma, with a separate periprostatic schwannoma. We present the first case in the literature of a sporadic periprostatic schwannoma discovered during evaluation for prostatic adenocarcinoma.

17.
Genes Chromosomes Cancer ; 59(1): 58-63, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31408245

ABSTRACT

We report an Xp11 translocation perivascular epithelioid cell tumor (PEComa) with a novel RBMX-TFE3 gene fusion, resulting from a paracentric X chromosome inversion, inv(X)(p11;q26). The neoplasm occurred in an otherwise healthy 12-year-old boy who presented with a large left renal mass with extension into the inferior vena cava. The patient was found to have multiple pulmonary metastases at diagnosis and died of disease 3 months later. The morphology (epithelioid clear cells with alveolar and nested architecture) and immunophenotype (TFE3 and HMB45 strongly positive; actin, desmin, and PAX8 negative) was typical of an Xp11 translocation PEComa; however, TFE3 rearrangement was initially not detected by routine TFE3 break-apart fluorescence in situ hybridization (FISH). Further RNA sequencing revealed a novel RBMX-TFE3 gene fusion, which was subsequently confirmed by fusion assay FISH, using custom design RBMX and TFE3 come-together probes. This report describes a novel TFE3 gene fusion partner, RBMX, in a pediatric renal PEComa patient associated with a fulminant clinical course. As documented in other intrachromosomal Xp11.2 inversions, such as fusions with NONO, RBM10, or GRIPAP1 genes, the TFE3 break-apart might be below the FISH resolution, resulting in a false negative result.

18.
Am J Surg Pathol ; 44(1): 120-128, 2020 01.
Article in English | MEDLINE | ID: mdl-31503011

ABSTRACT

Needle tract displacement is a recognized mimicker of invasive ductal carcinoma (IDC). Artifactual displacement of ductal carcinoma in situ (ADDCIS) unassociated with needle tracts may occur secondary to mechanical compression of breast specimens but has not been systematically studied. We identified 16 cases of ADDCIS unassociated with needle tract changes; the majority (75%) were internal referrals to the breast pathology service to rule out IDC, 19% were received as external diagnostic consultations to rule out IDC, and 6% were routine second review cases originally diagnosed as IDC at an outside hospital. The majority (62.5%) of ADDCIS occurred in lumpectomies, whereas 25% occurred in mastectomies and 12.5% in core biopsies. ADDCIS foci ranged from <1 to 5 mm; however, all ADDCIS spanning >4 mm demonstrated a linear pattern of displacement. In all cases, ADDCIS involved mammary stroma in a nonlobular distribution; in half, ADDCIS extended between benign lobules. Immunohistochemistry revealed no myoepithelial cells around the ADDCIS (n=7), adding to the concern for IDC. However, in contrast to most IDC, ADDCIS lacked stromal reaction and showed degenerative, smudged chromatin. None of the 9 patients with significant follow-up (mean, 7 y) developed metastasis. All received further local therapy for DCIS (5 radiation, 4 completion mastectomy); 1 received adjuvant systemic therapy (hormone therapy for contralateral IDC). In conclusion, ADDCIS mimics IDC, particularly given its permeative pattern and absence of myoepithelial cells. ADDCIS is most common in lumpectomies but can occur in mastectomies or core biopsies. Diagnostic clues include smudged nuclear chromatin, lack of stromal response, and linear pattern of displacement in larger lesions. The benign follow-up without systemic therapy supports our view that ADDCIS does not represent true IDC.


Subject(s)
Artifacts , Breast Neoplasms/pathology , Carcinoma, Ductal, Breast/pathology , Carcinoma, Intraductal, Noninfiltrating/pathology , Adult , Aged , Diagnosis, Differential , Female , Humans , Middle Aged , Neoplasm Invasiveness , Prospective Studies
19.
Acad Pathol ; 6: 2374289519873104, 2019.
Article in English | MEDLINE | ID: mdl-31523705

ABSTRACT

With 3.8% black trainees in 2012, pathology had significantly fewer trainees from groups underrepresented in medicine compared to other specialties. To address this, faculty in the Johns Hopkins Department of Pathology established an outreach program and funded rotation for students underrepresented in medicine and from disadvantaged groups. The aims were to increase exposure to the field and improve diversity, inclusion, and equity in pathology. A 1-month rotation for students underrepresented in medicine was established in 2013. Rotation schedules tailored to each rotator's interests included resident conferences and individual faculty meetings. In 2016, a proactive outreach program was established. Faculty visited historically black medical schools and underrepresented in medicine student groups at other institutions, where they gave a "Careers in Pathology" presentation targeted to second- and third-year medical students. Faculty also attended underrepresented in medicine student conferences and participated in high school student programs to further expand the underrepresented in medicine pipeline into medicine and pathology. Since 2016, fourteen outreach presentations have been delivered. The number of rotators increased from 1 in 2013 to 18 in July 2019. Rotators self-identified as African, African American, Hispanic, and Native American. Most were second- to fourth-year medical students, and 1 was a pathology resident. Six rotators are currently pathology residents, and others are strongly considering applying to pathology. The outreach efforts account for the success of our rotation, which, in turn, has had a positive impact on interest in pathology. However, we recognize barriers to retention and intend to incorporate additional professional development activities to further address equity.

20.
Anesth Analg ; 120(6): 1196-203, 2015 Jun.
Article in English | MEDLINE | ID: mdl-25988630

ABSTRACT

The evolution of modern anesthesia and surgical practices has been accompanied by enhanced supportive procedures in blood banking and transfusion medicine. There is increased focus on the preparation and the use of blood components including, but not limited to, preventing unnecessary type and screen/crossmatch orders, decreasing the time required to provide compatible red blood cells (RBCs), and reducing the waste of limited blood and personnel resources. The aim of this review is to help the anesthesiologist and surgical staff identify patients at highest risk for surgical bleeding. In addition, this review examines how anesthesia and transfusion medicine can efficiently and safely allocate blood components for surgical patients who require transfusions. The following databases were searched: PubMed, EMBASE, Google Scholar, and the Cochrane Library from January 1970 through March 2014. Subsequent reference searches of retrieved articles were also assessed. Several innovations have drastically changed the procedures by which blood is ordered, inventoried, and the speed in which blood is delivered for patient care. Before entering an operating room, patient blood management provides guidance to clinicians about when and how to treat preoperative anemia and intra- and postoperative strategies to limit the patient's exposure to blood components. Timely updates of the recommendations for blood orders (maximum surgical blood ordering schedule) have enhanced preoperative decision making regarding the appropriateness of the type and screen versus the type and crossmatch order. The updated maximum surgical blood ordering schedule reflects modern practices, such as laparoscopy, improved surgical techniques, and use of hemostatic agents resulting in a more streamlined process for ordering and obtaining RBCs. The electronic (computer) crossmatch and electronic remote blood issue have also dramatically reduced the amount of time required to obtain crossmatch-compatible RBCs when compared with the more traditional serologic crossmatch methods. These changes in blood banking methods have resulted in more efficient delivery of blood to surgical patients.


Subject(s)
Blood Banks , Blood Grouping and Crossmatching , Blood Loss, Surgical/prevention & control , Erythrocyte Transfusion/methods , Perioperative Care/methods , Appointments and Schedules , Blood Banks/organization & administration , Electronic Health Records , Erythrocyte Transfusion/adverse effects , Health Services Accessibility , Humans , Medical Record Linkage , Operating Room Information Systems , Predictive Value of Tests , Risk Factors , Time Factors
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