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Marisa nucci

Mamta Gupta, Anna Laury, Marisa R Nucci, Bradley J Quade
AIMS: Current WHO classification defines smooth muscle tumors of uncertain malignant potential (STUMP) as neoplasms that cannot be diagnosed reliably as benign or malignant using generally accepted criteria. This has led to application of various criteria sets; consequently, consistent and reliable outcome data is lacking. The aims of this study were: 1) to compare the frequency of adverse outcome in STUMP based on enhanced criteria; and 2) to perform failure analysis to identify feature(s) helpful in predicting outcome...
March 14, 2018: Histopathology
Andrea Freschi, Stella K Hur, Federica Maria Valente, Folami Y Ideraabdullah, Angela Sparago, Maria Teresa Gentile, Andrea Oneglia, Diego Di Nucci, Luca Colucci-D'Amato, Joanne L Thorvaldsen, Marisa S Bartolomei, Andrea Riccio, Flavia Cerrato
Differential DNA methylation defects of H19/IGF2 are associated with congenital growth disorders characterized by opposite clinical pictures. Due to structural differences between human and mouse, the mechanisms by which mutations of the H19/IGF2 Imprinting Control region (IC1) result in these diseases are undefined. To address this issue, we previously generated a mouse line carrying a humanized IC1 (hIC1) and now replaced the wildtype with a mutant IC1 identified in the overgrowth-associated Beckwith-Wiedemann syndrome...
February 22, 2018: PLoS Genetics
Adrián Mariño-Enriquez, Alexandra Lauria, Joanna Przybyl, Tony L Ng, Magdalena Kowalewska, Maria Debiec-Rychter, Raji Ganesan, Vaiyapuri Sumathi, Suzanne George, W Glenn McCluggage, Marisa R Nucci, Cheng-Han Lee, Jonathan A Fletcher
Endometrial stromal sarcomas (ESSs) are mesenchymal uterine tumors characterized by recurrent genetic events, most commonly chromosomal rearrangements, that create oncogenic gene fusions. High-grade endometrial stromal sarcomas (HG-ESSs), as defined in the 2014 World Health Organization Classification, typically contain oncogenic YWHAE-NUTM2 fusions; however, although not well characterized, there are tumors morphologically overlapping with HG-ESS that do not contain the YWHAE-NUTM2 fusions. These fusions are also found in certain pediatric primitive sarcomas, including clear cell sarcoma of the kidney and soft tissue undifferentiated round cell sarcoma of infancy...
March 2018: American Journal of Surgical Pathology
Eric J Yang, Brooke E Howitt, Christopher Dm Fletcher, Marisa R Nucci
AIMS: Solitary fibrous tumor (SFT) is an uncommon spindle cell neoplasm of fibroblastic origin, first described as a tumor of the pleura and now well established at extrapleural sites. However, SFT in the female genital tract is rare and therefore not fully characterized. MATERIAL AND RESULTS: We describe a series of 25 SFTs arising throughout the gynecologic tract, including vulva (14 cases), vagina (1), cervix (1), uterus (6), ovary (2) and fallopian tube (1)...
November 6, 2017: Histopathology
Jelena Mirkovic, Marie McFarland, Elizabeth Garcia, Lynette M Sholl, Neal Lindeman, Laura MacConaill, Fei Dong, Michelle Hirsch, Marisa R Nucci, Charles M Quick, Christopher P Crum, W Glenn McCluggage, Brooke E Howitt
Mesonephric adenocarcinoma most commonly arises in the cervix and is presumed to be derived from normal or hyperplastic mesonephric remnants. It is characterized by recurrent KRAS mutations and lack of PIK3CA/PTEN alterations. Adenocarcinomas of the uterine corpus and ovary characterized by morphologic and immunophenotypic similarities to mesonephric adenocarcinoma have been reported. The pathogenesis of these tumors, which have been designated "mesonephric-like adenocarcinomas" is unknown, and it has been debated whether these represent mesonephric adenocarcinomas that arise in the endometrium/ovary or endometrioid adenocarcinomas that closely mimic mesonephric adenocarcinoma...
February 2018: American Journal of Surgical Pathology
Francesca Micci, Marta Brunetti, Paola Dal Cin, Marisa R Nucci, Ludmila Gorunova, Sverre Heim, Ioannis Panagopoulos
We present a new endometrial stromal sarcoma (ESS)-associated genomic rearrangement involving chromosome arms 5p and 6p and leading to the formation of a BRD8-PHF1 fusion gene. The PHF1 (PHD finger protein 1) gene, from 6p21, is known to be rearranged in ESS in a promiscuous way inasmuch as it has been shown to recombine with JAZF1, EPC1, MEAF6, and now also with BRD8, in tumors of this type. In all rearrangements of PHF1, including the present one, a recurrent theme is that the entire coding part of PHF1 constitutes the 3' end of the fusion...
July 30, 2017: Genes, Chromosomes & Cancer
Karen L Talia, Colin J R Stewart, Brooke E Howitt, Marisa R Nucci, W Glenn McCluggage
In recent years, a number of benign and malignant cervical glandular lesions exhibiting gastric differentiation have been described but premalignant gastric-type lesions have not been well characterized. We report a series of 9 cases of a rare form of cervical adenocarcinoma in situ (AIS) distinguished by gastric and sometimes intestinal differentiation and lack of association with human papillomavirus (HPV) infection. The lesions occurred in women aged 25 to 73 years (mean age 51 y). All cases were located at (or just proximal to) the cervical transformation zone and there was extension to the lower uterine segment in 3 cases, 2 of which also involved the endometrium...
August 2017: American Journal of Surgical Pathology
Matthew L Hemming, Andrew J Wagner, Marisa R Nucci, Sarah Chiang, Lu Wang, Martee L Hensley, Suzanne George
OBJECTIVES: YWHAE-rearranged high-grade endometrial stromal sarcoma (HG-ESS) is a rare, recently defined uterine sarcoma harboring t(10;17)(q22;p13) resulting in YWHAE-NUTM2A/B fusion. Chemotherapy sensitivity of metastatic YWHAE-rearranged HG-ESS is unknown. We reviewed the response to chemotherapy in women with YWHAE-rearranged HG-ESS to provide guidance for clinical management. METHODS: We retrospectively identified patients diagnosed with YWHAE-rearranged HG-ESS who received treatment for metastatic disease at our institutions...
June 2017: Gynecologic Oncology
Ankur R Sangoi, Malti Kshirsagar, Andres A Roma, Andrew E Horvai, Mamatha Chivukula, Lora H Ellenson, Oluwole Fadare, Ann K Folkins, Karuna Garg, Krisztina Hanley, Teri A Longacre, Jacqueline Haas, W Glenn McCluggage, Jesse K McKenney, Marisa R Nucci, Esther Oliva, Kay J Park, Vinita Parkash, Charles M Quick, Joseph T Rabban, Joanne K L Rutgers, Robert Soslow, Russell Vang, Anna Yemelyanova, Charles Zaloudek, Andrew H Beck
Distinguishing hyalinized stroma from osteoid production by a heterologous osteosarcomatous component can be challenging in gynecologic tract carcinosarcomas. As heterologous components in a carcinosarcoma may have prognostic and therapeutic implications, it is important that these are recognized. This study examines interobserver reproducibility among gynecologic pathologists in the diagnosis of osteosarcomatous components, and its correlation with expression of the novel antibody SATB2 (marker of osteoblastic differentiation) in these osteosarcomatous foci...
July 2017: International Journal of Gynecological Pathology
Inga-Marie Schaefer, Jason L Hornick, Lynette M Sholl, Bradley J Quade, Marisa R Nucci, Carlos Parra-Herran
AIMS: Uterine myxoid leiomyosarcoma may show relatively bland histological appearances, despite its aggressive behaviour. Distinguishing uterine leiomyosarcoma from the more indolent inflammatory myofibroblastic tumour (IMT), which is amenable to targeted therapies, can be challenging. A significant subset of leiomyosarcomas harbour TP53 and/or CDKN2A genomic alterations. Here, we examined the diagnostic value of p53 and p16 immunohistochemistry in the distinction of uterine conventional and myxoid leiomyosarcoma from IMT, in correlation with targeted sequencing of TP53 and CDKN2A...
January 28, 2017: Histopathology
J Kenneth Schoolmeester, Joseph Carlson, Gary L Keeney, Karen J Fritchie, Esther Oliva, Robert H Young, Marisa R Nucci
Alveolar soft part sarcoma (ASPS) is a morphologically distinctive neoplasm of unknown differentiation that bears a characteristic gene fusion involving ASPSCR1 and TFE3. ASPS can occur in the female genital tract, but is rare. Eleven cases with an initial diagnosis of ASPS at female genital tract sites were evaluated for their morphologic features and immunoprofile using a panel of antibodies (TFE3, HMB45, melan-A, smooth muscle actin, desmin, and h-Caldesmon). In addition, the presence of TFE3 rearrangement and subsequent ASPSCR1-TFE3 fusion were determined by fluorescence in situ hybridization...
May 2017: American Journal of Surgical Pathology
Jaclyn C Watkins, Brooke E Howitt, Neil S Horowitz, Lauren L Ritterhouse, Fei Dong, Laura E MacConaill, Elizabeth Garcia, Neal I Lindeman, Larissa J Lee, Ross S Berkowitz, Marisa R Nucci, Christopher P Crum
Human papillomavirus-negative keratinizing vulvar cancers typically harbor TP53 mutations as do their precursors, differentiated vulvar intraepithelial neoplasia. However, atypical verruciform proliferations are also associated with these malignancies and their pathogenesis is poorly understood. This study compared 11 atypical verruciform lesions, including atypical verruciform hyperplasia, vulvar acanthosis with altered differentiation, and verruciform lichen simplex chronicus, with 14 human papillomavirus-negative keratinizing squamous cell carcinomas...
November 11, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
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
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