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Marisa nucci

Brooke E Howitt, Marisa R Nucci, Robert H Young
No abstract text is available yet for this article.
November 2016: International Journal of Gynecological Pathology
Emily E K Meserve, Marisa R Nucci
Peutz-Jeghers syndrome (PJS), in most cases, is attributed to mutation in STK11/LKB1 and is clinically characterized by gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and predisposition to certain neoplasms. There are currently no recommended gynecologic screening or clinical surveillance guidelines beyond those recommended for the general population; however, cervical cytology samples must be examined with a high level of suspicion for cervical adenocarcinoma. It is considered prudent to note the established association with PJS and recommend referral for genetic counseling...
June 2016: Surgical Pathology Clinics
Jaclyn C Watkins, Marisa R Nucci, Lauren L Ritterhouse, Brooke E Howitt, Lynette M Sholl
Universal screening for Lynch syndrome through mismatch repair (MMR) immunohistochemistry (IHC) on tumor samples has brought to light several heterogenous MMR staining patterns. At our institution, a prospective study of universal Lynch syndrome screening using MMR IHC on 125 endometrial cancers (EC) led to the identification of subclonal loss of MMR protein expression within the tumor (n=9). We also interrogated the MMR staining patterns in MMR-deficient EC with concurrent endometrial intraepithelial neoplasia (EIN; n=14) and all mixed-type ECs (n=14) to look for concordant or discordant profiles between the various components...
July 2016: American Journal of Surgical Pathology
Carlos Parra-Herran, Monica Taljaard, Bojana Djordjevic, M Carolina Reyes, Lauren Schwartz, John K Schoolmeester, Ricardo R Lastra, Charles M Quick, Anna Laury, Golnar Rasty, Marisa R Nucci, Brooke E Howitt
A pattern-based classification for invasive endocervical adenocarcinoma has been proposed as predictive of the risk of nodal metastases. We aimed to determine the reproducibility of such classification in the context of common diagnostic challenges: distinction between in situ and invasive adenocarcinoma and depth of invasion measurement. Nine gynecologic pathologists independently reviewed 96 cases of endocervical adenocarcinoma (two slides per case). They diagnosed each case as in situ or invasive carcinoma classifying the latter following the pattern-based classification as pattern A (non-destructive), B (focally destructive) or C (diffusely destructive)...
August 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Lauren L Ritterhouse, Jonathan A Nowak, Kyle C Strickland, Elizabeth P Garcia, Yonghui Jia, Neal I Lindeman, Laura E Macconaill, Panagiotis A Konstantinopoulos, Ursula A Matulonis, Joyce Liu, Ross S Berkowitz, Marisa R Nucci, Christopher P Crum, Lynette M Sholl, Brooke E Howitt
Extrauterine high-grade serous carcinomas can exhibit various histologic patterns including (1) classic architecture that is papillary, micropapillary and infiltrative and (2) solid, endometrioid, and transitional (ie, SET) patterns. Although the SET pattern has been associated with germline BRCA mutations, potential molecular underpinnings have not been fully investigated. DNA was isolated from 174 carcinomas of the fallopian tube, ovary, or peritoneum. Targeted next-generation sequencing was performed and single-nucleotide and copy number variants were correlated with morphologic subtype...
August 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Xiaodong Li, Mona Anand, Josh D Haimes, Namitha Manoj, Aaron M Berlin, Brian A Kudlow, Marisa R Nucci, Tony L Ng, Colin J R Stewart, Cheng-Han Lee
AIMS: Endometrial stromal sarcomas (ESSs) are divided into low-grade and high-grade subtypes, with the latter showing more aggressive clinical behaviour. Although histology and immunophenotype can aid in the diagnosis of these tumours, genetic studies can provide additional diagnostic insights, as low-grade ESSs frequently harbour fusions involving JAZF1/SUZ12 and/or JAZF1/PHF1, whereas high-grade ESSs are defined by YWHAE-NUTM2A/B fusions. The aim of this study was to evaluate the utility of a next-generation sequencing (NGS)-based assay in identifying ESS fusions in archival formalin-fixed paraffin-embedded tumour samples...
October 2016: Histopathology
Brooke E Howitt, Paola Dal Cin, Marisa R Nucci, Bradley J Quade
Müllerian adenosarcoma (MA) is an uncommon biphasic neoplasm of the female genital tract, composed of malignant stroma and benign epithelium. Little is known about the molecular and cytogenetic aberrations in MA pathogenesis, including those with progression to sarcomatous overgrowth (SO). Herein, we report all cases of MA in which karyotyping was attempted at our institution. Twenty-one samples from 20 subjects consisted of 15 primary (7 without SO, 8 with SO) and 6 metastatic MA, were cytogenetically investigated in our institution...
March 11, 2016: International Journal of Gynecological Pathology
Zehra Ordulu, Marisa R Nucci, Paola Dal Cin, Monica L Hollowell, Christopher N Otis, Jason L Hornick, Peter J Park, Tae-Min Kim, Bradley J Quade, Cynthia C Morton
Intravenous leiomyomatosis is an unusual smooth muscle neoplasm with quasi-malignant intravascular growth but a histologically banal appearance. Herein, we report expression and molecular cytogenetic analyses of a series of 12 intravenous leiomyomatosis cases to better understand the pathogenesis of intravenous leiomyomatosis. All cases were analyzed for the expression of HMGA2, MDM2, and CDK4 proteins by immunohistochemistry based on our previous finding of der(14)t(12;14)(q14.3;q24) in intravenous leiomyomatosis...
May 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Carlos Parra-Herran, John K Schoolmeester, Liping Yuan, Paola Dal Cin, Christopher D M Fletcher, Bradley J Quade, Marisa R Nucci
Myxoid leiomyosarcoma (mLMS) of the uterus is a rare neoplasm; thus, knowledge of its clinical behavior and morphology remains limited. We therefore reviewed 30 cases initially diagnosed as uterine mLMS to better characterize its clinicopathologic features. Diagnosis was confirmed in 25 subjects (average age 51.5 y), of whom 80% were stage 1 at presentation. The average tumor size was 10.8 cm. An infiltrative tumor border was observed microscopically in 24 cases (96%); the border in 1 case could not be assessed...
March 2016: American Journal of Surgical Pathology
Marisa R Nucci
A variety of site-specific mesenchymal lesions of the lower genital tract may occur, which are often diagnostically challenging because of their morphologic overlap. Some of this morphologic homogeneity presumably stems from a potentially shared origin from the specialized superficial stroma of the distal female genital tract. Despite shared appearances, morphologic distinction remains the gold standard for diagnosis of most of these lesions, as immunoperoxidase staining is often not helpful in their distinction...
December 2009: Surgical Pathology Clinics
Katja Specht, Lei Zhang, Yun-Shao Sung, Marisa Nucci, Sarah Dry, Sumathi Vaiyapuri, Gunther H S Richter, Christopher D M Fletcher, Cristina R Antonescu
Small blue round cell tumors (SBRCTs) are a heterogenous group of tumors that are difficult to diagnose because of overlapping morphologic, immunohistochemical, and clinical features. About two-thirds of EWSR1-negative SBRCTs are associated with CIC-DUX4-related fusions, whereas another small subset shows BCOR-CCNB3 X-chromosomal paracentric inversion. Applying paired-end RNA sequencing to an SBRCT index case of a 44-year-old man, we identified a novel BCOR-MAML3 chimeric fusion, which was validated by reverse transcription polymerase chain reaction and fluorescence in situ hybridization techniques...
April 2016: American Journal of Surgical Pathology
Marisa R Nucci
Uterine mesenchymal tumors continue to be a challenge to diagnose due to their non-specific clinical presentation, often non-distinctive gross appearance, varied (and many times overlapping) morphologic appearance, and unsuspected pitfalls in immunohistochemical expression. This review will focus on endometrial stromal tumors and those features that help in their distinction. In particular, a practical approach to the diagnosis of endometrial stromal neoplasia will be covered including recognition as a stromal process in a biopsy/curettage and distinction from a highly cellular leiomyoma...
January 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
J Kenneth Schoolmeester, Andrew P Sciallis, Patricia T Greipp, Jennelle C Hodge, Paola Dal Cin, Gary L Keeney, Marisa R Nucci
MDM2 amplification is known to occur in a variety of neoplasms and its detection by fluorescence in situ hybridization is helpful in distinguishing well-differentiated and dedifferentated liposarcoma from classic lipoma. We recently evaluated a mesenteric mass initially diagnosed as dedifferentiated liposarcoma, largely due to the neoplasm's myxoid morphology and MDM2 expression by immunohistochemistry, from a 46-yr-old woman with a history of uterine low-grade endometrial stromal sarcoma (LG-ESS) with a JAZF1 rearrangement...
November 2015: International Journal of Gynecological Pathology
Catharina Nucci-Martins, Daniel F Martins, Leandro F Nascimento, Dalila Venzke, Aldo S Oliveira, Marisa J S Frederico, Fátima R M B Silva, Inês M C Brighente, Moacir G Pizzolatti, Adair R S Santos
ETHNOPHARMACOLOGICAL RELEVANCE: The medicinal plant Pterodon pubescens Benth has been traditionally used for a long time to treat rheumatic diseases due to its anti-inflammatory and analgesic activities. The present study aims to evaluate the antinociceptive effect of ethanolic extract from P. pubescens fruits (EEPp) in a model of neuropathic pain in mice. MATERIALS AND METHODS: The phytochemical analysis of EEPp was performed through GC-MS, HPLC and colorimetric analysis...
December 4, 2015: Journal of Ethnopharmacology
Anthony N Karnezis, Yemin Wang, Pilar Ramos, William Pd Hendricks, Esther Oliva, Emanuela D'Angelo, Jaime Prat, Marisa R Nucci, Torsten O Nielsen, Christine Chow, Samuel Leung, Friedrich Kommoss, Stefan Kommoss, Annacarolina Silva, Brigitte M Ronnett, Joseph T Rabban, David D Bowtell, Bernard E Weissman, Jeffrey M Trent, C Blake Gilks, David G Huntsman
Small cell carcinoma of the ovary, hypercalcaemic type (SCCOHT) is a lethal and sometimes familial ovarian tumour of young women and children. We and others recently discovered that over 90% of SCCOHTs harbour inactivating mutations in the chromatin remodelling gene SMARCA4 with concomitant loss of its encoded protein SMARCA4 (BRG1), one of two mutually exclusive ATPases of the SWI/SNF chromatin remodelling complex. To determine the specificity of SMARCA4 loss for SCCOHT, we examined the expression of SMARCA4 by immunohistochemistry in more than 3000 primary gynaecological tumours...
February 2016: Journal of Pathology
Jelena Mirkovic, Lynette M Sholl, Elizabeth Garcia, Neal Lindeman, Laura MacConaill, Michelle Hirsch, Paola Dal Cin, Melissa Gorman, Justine A Barletta, Marisa R Nucci, W Glenn McCluggage, Brooke E Howitt
Mesonephric carcinoma is a rare form of gynecologic cancer derived from mesonephric remnants usually located in the lateral wall of the uterine cervix. An analogous tumor occurs in the adnexa, female adnexal tumor of probable Wolffian origin. The pathogenesis and molecular events in mesonephric carcinoma are not known. The aim of this study was to examine the molecular alterations in mesonephric carcinoma to identify driver mutations and therapeutically targetable mutations. This study consisted of 19 tumors from 17 patients: 18 mesonephric carcinomas (15 primary tumors and three metastatic tumors) and 1 female adnexal tumor of probable Wolffian origin...
November 2015: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
Titilope Oduyebo, Emily Hinchcliff, Emily E Meserve, Michael A Seidman, Bradley J Quade, J Alejandro Rauh-Hain, Suzanne George, Marisa R Nucci, Marcela G del Carmen, Michael G Muto
STUDY OBJECTIVE: To determine factors that can identify a population at increased risk for uterine leiomyosarcoma. DESIGN: Retrospective case-control study (Canadian Task Force classification II-2). SETTING: University teaching hospitals. PATIENTS: Seventy-two women who underwent minimally invasive gynecologic surgery for presumed leiomyoma. Patients diagnosed with leiomyosarcoma (cases) were matched with up to 4 controls on age, year of surgery, and surgeon specialty...
January 2016: Journal of Minimally Invasive Gynecology
Brooke E Howitt, Megan M Emori, Ronny Drapkin, Cynthia Gaspar, Justine A Barletta, Marisa R Nucci, W Glenn McCluggage, Esther Oliva, Michelle S Hirsch
GATA3 is a transcription factor critical for embryogenesis, development, and cell differentiation. Recent studies have suggested that GATA3 is a sensitive and relatively specific biomarker for urothelial and breast carcinomas, with most Müllerian carcinomas being negative. We investigated GATA3 expression in mesonephric/Wolffian remnants and tumors in the female genital tract. A western blot was performed to assess specificity for the GATA3 antibody. GATA3 immunohistochemistry was performed on 59 formalin-fixed paraffin-embedded mesonephric samples, including 17 mesonephric remnants (MR; 11 cervical and 6 fallopian tube), 15 mesonephric hyperplasias, 21 mesonephric carcinomas, and 6 female adnexal tumors of probable Wolffian origin...
October 2015: American Journal of Surgical Pathology
Kyle C Strickland, Marisa R Nucci, Katharine M Esselen, Michael G Muto, Sameer Chopra, Suzanne George, Brooke E Howitt
We describe the case of an 81-yr-old woman who presented with bilateral pulmonary nodules in the setting of a large uterine mass, concerning for a gynecologic malignancy such as leiomyosarcoma. However, fine-needle aspiration of a lung nodule revealed a spindle cell neoplasm consistent with solitary fibrous tumor (SFT), a rare mesenchymal neoplasm characterized by a patternless architecture of spindle cells and branching ectatic vessels. Total abdominal hysterectomy demonstrated a primary SFT of the uterus...
January 2016: International Journal of Gynecological Pathology
Xiangqian Guo, Vickie Y Jo, Anne M Mills, Shirley X Zhu, Cheng-Han Lee, Inigo Espinosa, Marisa R Nucci, Sushama Varma, Erna Forgó, Trevor Hastie, Sharon Anderson, Kristen Ganjoo, Andrew H Beck, Robert B West, Christopher D Fletcher, Matt van de Rijn
PURPOSE: Leiomyosarcoma is a malignant neoplasm with smooth muscle differentiation. Little is known about its molecular heterogeneity and no targeted therapy currently exists for leiomyosarcoma. Recognition of different molecular subtypes is necessary to evaluate novel therapeutic options. In a previous study on 51 leiomyosarcomas, we identified three molecular subtypes in leiomyosarcoma. The current study was performed to determine whether the existence of these subtypes could be confirmed in independent cohorts...
August 1, 2015: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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