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https://www.readbyqxmd.com/read/28709830/pathologic-findings-in-breast-fallopian-tube-and-ovary-specimens-in-non-brca-hereditary-breast-and-or-ovarian-cancer-syndromes-a-study-of-18-patients-with-deleterious-germline-mutations-in-rad51c-bard1-brip1-palb2-mutyh-or-chek2
#1
J Kenneth Schoolmeester, Ann M Moyer, McKinsey L Goodenberger, Gary L Keeney, Jodi M Carter, Jamie N Bakkum-Gamez
Germline BRCA mutations account for a significant proportion of genetic/familial risk of breast and ovarian cancer (GBOC) susceptibility, but a broader spectrum of GBOC susceptibility genes has emerged in recent years. Genotype to phenotype correlations are known for some established forms of GBOC, however whether such correlations exist for less common GBOC variants is unclear. We reviewed our institution's experience with non-BRCA GBOC, looking specifically for trends in pathologic and clinical features. Eighteen women with deleterious germline mutations in RAD51C (5 patients), BARD1 (1 patient), BRIP1 (2 patients), PALB2 (3 patients), MUTYH (2 patients) or CHEK2 (5 patients) were identified between January 2011 and December 2016...
July 11, 2017: Human Pathology
https://www.readbyqxmd.com/read/28700439/genital-rhabdomyoma-of-the-lower-female-genital-tract-a-study-of-12-cases-with-molecular-cytogenetic-findings
#2
J Kenneth Schoolmeester, Deyin Xing, Gary L Keeney, William R Sukov
Of the subtypes of extracardiac rhabdomyoma, genital rhabdomyoma is most uncommon and is occasionally classified as fetal rhabdomyoma due to morphologic similarities. In contrast to other forms of rhabdomyoma, the genetic alterations of genital rhabdomyoma are unknown. The clinical and pathologic findings in 12 cases were reviewed and 2 cases were processed for whole genome copy number analysis by single nucleotide polymorphism microarray. Twelve patients ranged in age from 43 to 65 yr (mean: 50.2 yr). Nine tumors arose in the vagina and 3 in the cervix, with their greatest dimension spanning 0...
July 11, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28622181/validation-of-a-mitotic-index-cutoff-as-a-prognostic-marker-in-undifferentiated-uterine-sarcomas
#3
MULTICENTER STUDY
Elin Hardell, Sofia Josefson, Mehran Ghaderi, Tone Skeie-Jensen, Sofia Westbom-Fremer, Elizabeth H Cheek, Debra Bell, Jonas Selling, John K Schoolmeester, Anna Måsbäck, Ben Davidson, Joseph W Carlson
Undifferentiated uterine sarcomas (UUS) are a heterogenous group of high-grade mesenchymal tumors. Although these tumors are highly aggressive, a subset of patients may experience long-term survival. These tumors have previously been divided morphologically into uniform and pleomorphic types. A previous study demonstrated that a mitotic index cutoff of 25 mitoses/10 high-power fields (corresponding to 11.16 mitotic figures/mm) could successfully divide tumors into 2 prognostic groups with significantly different overall survival...
September 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28554747/architectural-overlap-between-benign-endocervix-and-pattern-a-endocervical-adenocarcinoma-are-all-pattern-a-tumors-invasive
#4
Gregory Douglas, Brooke E Howitt, John K Schoolmeester, Lauren Schwartz, Zuzana Kos, Shahidul Islam, Bojana Djordjevic, Carlos Parra-Herran
Studies on the pattern-based classification for invasive endocervical adenocarcinoma showed that tumors with nondestructive invasion (pattern-A) have a 0% rate of nodal metastases. Our understanding of pattern-A tumors and their distinction from in-situ adenocarcinoma requires further study. Thirteen sections diagnosed independently as pattern-A adenocarcinoma by three gynecologic pathologists, and 14 sections of benign endocervix were selected. Three additional pathologists (reviewers) evaluated a digital image from each section and classified it as pattern-A or benign based on architecture only...
March 8, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28482097/once-daily-atazanavir-cobicistat-and-darunavir-cobicistat-exposure-over-72%C3%A2-h-post-dose-in-plasma-urine-and-saliva-contribution-to-drug-pharmacokinetic-knowledge
#5
Emilie R Elliot, Alieu Amara, Nicole Pagani, Laura Else, Graeme Moyle, Alex Schoolmeesters, Chris Higgs, Saye Khoo, Marta Boffito
No abstract text is available yet for this article.
July 1, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28407075/once-daily-atazanavir-cobicistat-and-darunavir-cobicistat-exposure-over-72%C3%A2-h-post-dose-in-plasma-urine-and-saliva-contribution-to-drug-pharmacokinetic-knowledge
#6
Emilie R Elliot, Alieu Amara, Nicole Pagani, Laura Else, Graeme Moyle, Alex Schoolmeesters, Chris Higgs, Saye Khoo, Marta Boffito
Background: We investigated the pharmacokinetics (PK) of atazanavir/cobicistat and darunavir/cobicistat once daily over 72 h following drug intake cessation in plasma, saliva and urine. Methods: Healthy volunteers received a fixed-dose combination of 300/150 mg of atazanavir/cobicistat once daily for 10 days, followed by a 10 day washout period and then a fixed-dose combination of 800/150 mg of darunavir/cobicistat once daily for 10 days. Full PK profiles were assessed for each phase for 72 h following day 10 and parameters determined to the last measurable concentration in plasma, saliva and urine by non-compartmental methods...
July 1, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28062068/cervical-minimal-deviation-adenocarcinoma-in-peutz-jeghers-syndrome
#7
J Kenneth Schoolmeester, Lori A Erickson
No abstract text is available yet for this article.
January 2017: Mayo Clinic Proceedings
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
#8
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/27636888/alk-rearranged-inflammatory-myofibroblastic-tumor-of-the-placenta-with-observations-on-site-of-origin
#9
J Kenneth Schoolmeester, William R Sukov
No abstract text is available yet for this article.
September 15, 2016: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/27513075/collision-signet-ring-stromal-tumor-and-steroid-cell-tumor-of-the-ovary-report-of-the-first-case
#10
Stephanie M McGregor, J Kenneth Schoolmeester, Ricardo R Lastra
To date, the vast majority of collision tumors in the ovary include either a teratoma, sex cord-stromal tumor, or both. Here we report the first case of a collision tumor consisting of a steroid cell tumor and a signet-ring stromal tumor.
August 10, 2016: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/27488034/klf10-mediated-epigenetic-dysregulation-of-epithelial-cd40-cd154-promotes-endometriosis
#11
Abigail A Delaney, Zaraq Khan, Ye Zheng, Luiz F Correa, Valentina Zanfagnin, Chandra C Shenoy, John K Schoolmeester, Abdulrahman M Saadalla, Sherif El-Nashar, Abimbola O Famuyide, Malayannan Subramaniam, John R Hawse, Khashayarsha Khazaie, Gaurang S Daftary
Endometriosis is a highly prevalent, chronic, heterogeneous, fibro-inflammatory disease that remains recalcitrant to conventional therapy. We previously showed that loss of KLF11, a transcription factor implicated in uterine disease, results in progression of endometriosis. Despite extensive homology, co-expression, and human disease association, loss of the paralog Klf10 causes a unique inflammatory, cystic endometriosis phenotype in contrast to fibrotic progression seen with loss of Klf11. We identify here for the first time a novel role for KLF10 in endometriosis...
September 2016: Biology of Reproduction
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
#12
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/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
#13
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/26645728/lower-female-genital-tract-tumors-with-adenoid-cystic-differentiation-p16-expression-and-high-risk-hpv-detection
#14
Deyin Xing, J Kenneth Schoolmeester, Zhiyong Ren, Christina Isacson, Brigitte M Ronnett
Lower female genital tract tumors with adenoid cystic differentiation are rare, and data on their relationship with high-risk human papillomavirus (HPV) are limited. Here we report the clinicopathologic features from a case series. Tumors with adenoid cystic differentiation, either pure or as part of a carcinoma with mixed differentiation, arising in the lower female genital tract were evaluated by means of immunohistochemical analysis for p16 expression and in situ hybridization using 1 or more probes for high-risk HPV (a high-risk probe covering multiple types, a wide-spectrum probe, and separate type-specific probes for HPV16 and HPV18) and when possible by polymerase chain reaction for high-risk HPV...
April 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/26598981/pleomorphic-liposarcoma-arising-in-a-lipoleiomyosarcoma-of-the-uterus-report-of-a-case-with-genetic-profiling-by-a-next-generation-sequencing-panel
#15
J Kenneth Schoolmeester, Michael D Stamatakos, Ann M Moyer, Kay J Park, Melissa Fairbairn, Amanda N Fader
Uterine tumors with adipocytic differentiation are very uncommon. Mature adipocytes are sometimes seen as an element of smooth muscle neoplasms, more often as lipoleiomyoma, but also in the rare lipoleiomyosarcoma. Exceptional cases have been reported of various subtypes of liposarcoma associated with uterine smooth muscle tumors with or without adipocytic differentiation. We present a case of pleomorphic liposarcoma arising in a lipoleiomyosarcoma of the uterus. Genomic profiling was performed using a validated next generation sequencing panel covering 410 common cancer genes...
July 2016: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/26523540/invasive-stratified-mucin-producing-carcinoma-and-stratified-mucin-producing-intraepithelial-lesion-smile-15-cases-presenting-a-spectrum-of-cervical-neoplasia-with-description-of-a-distinctive-variant-of-invasive-adenocarcinoma
#16
MULTICENTER STUDY
Ricardo R Lastra, Kay J Park, J Kenneth Schoolmeester
Stratified mucin-producing intraepithelial lesion (SMILE) is a cervical intraepithelial lesion, distinct from conventional squamous or glandular counterparts, believed to arise from embryonic cells at the transformation zone by transdifferentiation during high-risk HPV-associated carcinogenesis. It is characterized by stratified, immature epithelial cells displaying varying quantities of intracytoplasmic mucin throughout the majority of the lesional epithelium. We identified a distinct form of invasive cervical carcinoma with morphologic features identical to those in SMILE, which we have termed "invasive stratified mucin-producing carcinoma...
February 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/26444253/analysis-of-mdm2-amplification-in-43-endometrial-stromal-tumors-a-potential-diagnostic-pitfall
#17
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
https://www.readbyqxmd.com/read/26135558/incidental-nodal-lymphangioleiomyomatosis-is-not-a-harbinger-of-pulmonary-lymphangioleiomyomatosis-a-study-of-19-cases-with-evaluation-of-diagnostic-immunohistochemistry
#18
J Kenneth Schoolmeester, Kay J Park
Lymphangioleiomyomatosis (LAM) is a proliferation of perivascular epithelioid cells typically affecting the lung as a low-grade, destructive and progressive disease but may also be found in lymph nodes and other organs. LAM is sometimes seen as an incidental finding in lymph node dissections performed for staging of gynecologic tumors. To our knowledge, no study has investigated the clinical significance of incidental nodal LAM in relation to subsequent development of pulmonary LAM. We identified 19 patients from our institution with LAM in lymph nodes...
October 2015: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/25930475/expression-of-dna-methyltransferases-in-human-endometrium-in-relation-to-menstrual-cycle-and-abnormal-uterine-bleeding-145
#19
Elliott Grant Richards, Sherif A El-Nashar, John Kenny Schoolmeester, Abimbola O Famuyide
INTRODUCTION: The menstrual cycle is a sex steroid-driven process thought to be under the influence of multiple epigenetic modulators. DNA methytransferases (DNMT) appear to regulate gene activity during decidualization, but relative expression level by phase is not fully understood and has not been studied in abnormal uterine bleeding. METHODS: Immunohistochemistry was performed on tissue microarrays derived from 541 endometrial samples including secretory, proliferative, atrophic histopathologic diagnoses...
May 2015: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/25925211/genital-soft-tissue-tumors
#20
REVIEW
John K Schoolmeester, Karen J Fritchie
Mesenchymal neoplasms of the vulvovaginal and inguinoscrotal regions are among the most diagnostically challenging specimens in the pathology laboratory owing largely to their unique intersection between general soft tissue tumors and relatively genital-specific mesenchymal tumors. Genital stromal tumors are a unique subset of soft tissue tumors encountered at this location, and this group includes fibroepithelial stromal polyp, superficial (cervicovaginal) myofibroblastoma, cellular angiofibroma, mammary-type myofibroblastoma, angiomyofibroblastoma and aggressive angiomyxoma...
July 2015: Journal of Cutaneous Pathology
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