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Marisa nucci

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https://www.readbyqxmd.com/read/28758277/fusion-of-the-genes-brd8-and-phf1-in-endometrial-stromal-sarcoma
#1
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
https://www.readbyqxmd.com/read/28394803/hpv-negative-gastric-type-adenocarcinoma-in-situ-of-the-cervix-a-spectrum-of-rare-lesions-exhibiting-gastric-and-intestinal-differentiation
#2
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
https://www.readbyqxmd.com/read/28390819/ywhae-rearranged-high-grade-endometrial-stromal-sarcoma-two-center-case-series-and-response-to-chemotherapy
#3
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/28221217/interobserver-reproducibility-among-gynecologic-pathologists-in-diagnosing-heterologous-osteosarcomatous-component-in-gynecologic-tract-carcinosarcomas
#4
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
https://www.readbyqxmd.com/read/28130839/abnormal-p53-and-p16-staining-patterns-distinguish-uterine-leiomyosarcoma-from-inflammatory-myofibroblastic-tumour
#5
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
https://www.readbyqxmd.com/read/28009610/alveolar-soft-part-sarcoma-of-the-female-genital-tract-a-morphologic-immunohistochemical-and-molecular-cytogenetic-study-of-10-cases-with-emphasis-on-its-distinction-from-morphologic-mimics
#6
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/27834349/differentiated-exophytic-vulvar-intraepithelial-lesions-are-genetically-distinct-from-keratinizing-squamous-cell-carcinomas-and-contain-mutations-in-pik3ca
#7
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
https://www.readbyqxmd.com/read/27662037/xxix-dr-hazel-mansell-gore
#8
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
https://www.readbyqxmd.com/read/27241107/peutz-jeghers-syndrome-pathobiology-pathologic-manifestations-and-suggestions-for-recommending-genetic-testing-in-pathology-reports
#9
REVIEW
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
https://www.readbyqxmd.com/read/27186853/unusual-mismatch-repair-immunohistochemical-patterns-in-endometrial-carcinoma
#10
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
https://www.readbyqxmd.com/read/27174588/pattern-based-classification-of-invasive-endocervical-adenocarcinoma-depth-of-invasion-measurement-and-distinction-from-adenocarcinoma-in-situ-interobserver-variation-among-gynecologic-pathologists
#11
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
https://www.readbyqxmd.com/read/27150160/morphologic-correlates-of-molecular-alterations-in-extrauterine-m%C3%A3-llerian-carcinomas
#12
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
https://www.readbyqxmd.com/read/26990025/the-application-of-next-generation-sequencing-based-molecular-diagnostics-in-endometrial-stromal-sarcoma
#13
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
https://www.readbyqxmd.com/read/26974998/involvement-of-chromosome-8-in-m%C3%A3-llerian-adenosarcoma
#14
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
https://www.readbyqxmd.com/read/26892441/intravenous-leiomyomatosis-an-unusual-intermediate-between-benign-and-malignant-uterine-smooth-muscle-tumors
#15
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
https://www.readbyqxmd.com/read/26866354/myxoid-leiomyosarcoma-of-the-uterus-a-clinicopathologic-analysis-of-30-cases-and-review-of-the-literature-with-reappraisal-of-its-distinction-from-other-uterine-myxoid-mesenchymal-neoplasms
#16
REVIEW
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
https://www.readbyqxmd.com/read/26838773/mesenchymal-lesions-of-the-lower-genital-tract
#17
REVIEW
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
https://www.readbyqxmd.com/read/26752546/novel-bcor-maml3-and-zc3h7b-bcor-gene-fusions-in-undifferentiated-small-blue-round-cell-sarcomas
#18
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
https://www.readbyqxmd.com/read/26715176/practical-issues-related-to-uterine-pathology-endometrial-stromal-tumors
#19
REVIEW
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
https://www.readbyqxmd.com/read/26444253/analysis-of-mdm2-amplification-in-43-endometrial-stromal-tumors-a-potential-diagnostic-pitfall
#20
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
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