Review
Cell Biology
Cristina Teixido, Paola Castillo, Clara Martinez-Vila, Ana Arance, Llucia Alos
Summary: Melanoma develops as a result of genetic alterations and has seen significant advancements in treatment with targeted therapy and immune checkpoint inhibitors.
Article
Obstetrics & Gynecology
Christoph Wohlmuth, Iris Wohlmuth-Wieser, Stephane Laframboise
Summary: The study aimed to assess the clinical and histopathological characteristics of women with vulvovaginal melanoma (VVM) and study the treatment response of checkpoint inhibitors. It found that women with VVM are a high-risk group with poor overall prognosis, and immune checkpoint inhibitors are effective in treating metastatic melanoma in this patient cohort.
JOURNAL OF LOWER GENITAL TRACT DISEASE
(2021)
Article
Obstetrics & Gynecology
Rawda A. Elshennawy, Charlotte Aird, William Boyle, Jason Yap, Anthony Williams, Raji Ganesan
Summary: Less than 10% of gynaecological cancers occur in the vulva and vagina, mostly being squamous cell carcinomas. Other types of cancers, such as melanoma, Paget disease, basal cell carcinomas, can also present with vulval and vaginal symptoms. A study searched for non-squamous cancers in the vulva and vagina from 1996 to 2019, finding a total of 221 cases, including metastatic carcinomas, basal cell carcinomas, and other types of adenocarcinomas. Adenocarcinomas, especially those that are metastatic, present a challenge in diagnosis. The dominance of metastatic carcinomas in this study may reflect the consultation practice of specialist pathologists.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY
(2023)
Article
Biotechnology & Applied Microbiology
Shuai Liu, Pan Pan, Bing Han, Jingnan Wang, Meili Sun, Yuping Sun
Summary: EGISTs are rare malignant tumors that can occur outside the gastrointestinal tract, as seen in a case of a 60-year-old woman with a tumor in the vagina in this report. Surgical excision and histological examination are crucial, and literature reviews provide valuable insights into management and treatment.
ONCOTARGETS AND THERAPY
(2021)
Article
Oncology
ChuanLiang Cui, Bin Lian, XiaoShi Zhang, Di Wu, Ke Li, Lu Si, Yue Yang, Hui Tian, Li Zhou, ZhiHong Chi, XiNan Sheng, Yan Kong, LiLi Mao, Xuan Wang, Xue Bai, XieQiao Yan, SiMing Li, Jie Dai, BiXia Tang, Xiaoting Wei, Jeffrey E. Gershenwald, Charles M. Balch, Jun Guo
Summary: Based on a study of 1814 MuM patients, researchers have proposed a staging system for mucosal melanoma that incorporates all anatomical primary tumor sites and can be used to guide the design of clinical trials.
ANNALS OF SURGICAL ONCOLOGY
(2022)
Article
Medicine, General & Internal
Alan H. Appelbaum, Mehran Tirandaz, Giuseppe Ricci, Roberto Levi D'Ancona
Summary: Multiple studies have found an association between uterine prolapse and uterine retroversion. This association may be explained by the fact that the cervix of a retroverted uterus usually inserts at the apex of the vagina, while the cervix of an anteverted uterus inserts at other locations. This difference in insertion sites may result in less support for retroverted uteri.
Review
Medicine, General & Internal
Bogdan Doroftei, Ovidiu-Dumitru Ilie, Theodora Armeanu, Irina-Liviana Stoian, Nicoleta Anton, Ramona-Geanina Babici, Ciprian Ilea
Summary: Reproductive tract microbiota has been intensively studied in recent years, leading to the opportunity for updated management strategies and therapeutic approaches. However, there are still controversies regarding the route from the vagina to the endometrium and its impact on adverse obstetric outcomes. The reduction of Lactobacillus spp. and other core microbiota members may disrupt metabolic and endocrine homeostasis, leading to inflammation and increased risk of miscarriage. The role of specific strains and the effect on the endometrium is still debated, and the use of antibiotics and probiotics depends on individual factors.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Obstetrics & Gynecology
Audra Jolyn Hill, Sunil Balgobin, Kavita Mishra, Peter C. Jeppson, Thomas Wheeler, Donna Mazloomdoost, Mallika Anand, Cara Ninivaggio, Jennifer Hamner, Katarzyna Bochenska, Saifuddin T. Mama, Ethan M. Balk, Marlene M. Corton, John Delancey
Summary: The study highlighted inconsistencies in anatomic terminology used to describe the posterior female pelvis and vulva, recommending the use of standardized terminology to improve communication and education across medical and anatomic disciplines.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
Article
Oncology
Natacha Wurtz Yazdanfard, Lauge Hjorth Mikkelsen, Nille Behrendt, Katrine Fuglsang, Jan Blaakaer, Lisbet Rosenkrantz Holmich, Ligita Paskeviciute Froding, Helga Fibiger Munch-Petersen, Steffen Heegaard
Summary: This study investigated the clinical, pathological, and genetic characteristics of patients with vaginal melanoma in Denmark. The results showed that vaginal melanoma is a rare disease with a poor prognosis, possibly due to vague symptoms and the anatomical location of the disease. Co-mutations in ATRX and TP53 and mutations in TP53 alone were associated with a poor prognosis, suggesting that these genes could be potential targets for future therapy.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Veterinary Sciences
Narin Liman, Hakan Sagsoz
Summary: This study investigated the expression and localization of classical cadherins and beta-catenin in the cow cervix and vagina during the estrous cycle. The results showed that these adhesion molecules were expressed in specific cell types and exhibited different patterns during the estrous cycle. The findings suggest that estrogen and progesterone hormones influence the expression of cadherins and beta-catenin in a cell- and tissue-specific manner.
VETERINARY RESEARCH COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Viera Horvathova Kajabova, Andrea Soltysova, Lucia Demkova, Paulina Plesnikova, Darina Lyskova, Alena Furdova, Pavel Babal, Bozena Smolkova
Summary: Our study found that KIT positivity was associated with a more than 17-fold increase in the risk of poor prognosis in uveal melanoma, and a strong negative correlation was identified between mRNA expression and DNA methylation values for 12 of 20 analyzed positions.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Alice Indini, Fausto Roila, Francesco Grossi, Daniela Massi, Mario Mandala
Summary: Mucosal melanoma is a rare and aggressive subtype of melanoma that has shown poor response to novel treatment approaches. Recent molecular studies have revealed potential therapeutic targets and the potential benefits of immunotherapy in this disease. However, further research is needed to confirm these findings in different studies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
F. Janku, S. Bauer, K. Shoumariyeh, R. L. Jones, A. Spreafico, J. Jennings, C. Psoinos, J. Meade, R. Ruiz-Soto, P. Chi
Summary: This study demonstrates the efficacy and safety of Ripretinib in patients with KIT-altered metastatic melanoma. The drug shows promising results and may play a meaningful role in treating these patients.
Article
Biochemistry & Molecular Biology
Lisa Elefanti, Carolina Zamuner, Paolo Del Fiore, Camilla Stagni, Stefania Pellegrini, Luigi Dall'Olmo, Alessio Fabozzi, Rebecca Senetta, Simone Ribero, Roberto Salmaso, Simone Mocellin, Franco Bassetto, Francesco Cavallin, Anna Lisa Tosi, Francesca Galuppini, Angelo Paolo Dei Tos, Chiara Menin, Rocco Cappellesso
Summary: Acral melanoma is a rare and aggressive subtype of melanoma, unrelated to UV radiation, with low mutation burden but frequent chromosomal rearrangements and gene amplifications. The most commonly mutated genes are BRAF, NRAS, and TP53, with some genetic alterations associated with histologic prognostic features.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Dermatology
Ida M. Heerfordt, Peter A. Philipsen, Jeppe D. Andersen, Linnea Langhans, Grethe Schmidt, Niels Morling, Hans Christian Wulf
Summary: Using tape strip derived RNA, this study developed a technique to differentiate cutaneous malignant melanoma (CMM) from nevi with 100% sensitivity. The technique reduced the unnecessary surgical removal of benign lesions by one-third without overlooking any CMMs.
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY
(2023)
Article
Surgery
Nishant Ganesh Kumar, May P. Chan, Theodore A. Kung
Review
Cell Biology
Jaclyn M. Plotzke, David J. Adams, Paul W. Harms
Summary: Recent discoveries have revealed diverse oncogenic drivers and tumour suppressor alterations in adnexal tumours, implicating various pathways and identifying novel markers.
Article
Dermatology
Paul W. Harms, Monique E. Verhaegen, Josh N. Vo, Jean C. Tien, Drew Pratt, Fengyun Su, Saravana M. Dhanasekaran, Xuhong Cao, Doris Mangelberger, Julia VanGoor, Jae Eun Choi, Vincent T. Ma, Andrzej A. Dlugosz, Arul M. Chinnaiyan
Summary: This study investigated DNA methylation in MCC and found similar patterns to other cancer types. The hypomethylating agent decitabine has therapeutic effects on antigen-presenting mechanisms and shows differential effects on MCC cells with different viral status.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2022)
Article
Dermatology
Nicholas Kline, Tyler D. Menge, Steven M. Hrycaj, Aleodor A. Andea, Rajiv M. Patel, Paul W. Harms, May P. Chan, Scott C. Bresler
Summary: PRAME immunohistochemistry may be useful in supporting a diagnosis of melanoma in challenging dermal melanocytic neoplasms and other epithelioid neoplasms with melanocytic differentiation, but lacks sensitivity in this context.
AMERICAN JOURNAL OF DERMATOPATHOLOGY
(2022)
Article
Oncology
Winston Y. Lee, Efrain A. Gutierrez-Lanz, Hong Xiao, David McClintock, May P. Chan, Dale L. Bixby, Lina Shao
Summary: The study uncovers three different modes of ERG amplification in AML-CK and distinguishes ERG amplification from iAMP21, while exploring the association with TP53 abnormalities and other chromosomal aberrations, including chromothripsis. It also suggests that ERG amplification may initially emerge as subclonal events in low-grade myeloid neoplasms, highlighting its potential as a therapeutic target in AML.
GENES CHROMOSOMES & CANCER
(2022)
Article
Obstetrics & Gynecology
Emily R. McMullen-Tabry, Shula A. Schechter, Grace Y. Wang, Andrew P. Sciallis, Steven M. Hrycaj, May P. Chan, Stephanie L. Skala
Summary: Accurate diagnosis of differentiated vulvar intraepithelial neoplasia (dVIN) is challenging due to overlapping staining patterns between dVIN and benign/reactive entities. The p53/CK17 dual stain shows promise in distinguishing dVIN, with aberrant p53 staining and positive CK17 strongly supporting the diagnosis.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL PATHOLOGY
(2022)
Article
Pathology
Paul W. Harms, Monique E. Verhaegen, Kevin Hu, Steven M. Hrycaj, May P. Chan, Chia-Jen Liu, Marina Grachtchouk, Rajiv M. Patel, Aaron M. Udager, Andrzej A. Dlugosz
Summary: MCC and SCCIS show significant overlap in gene mutations, with no unique gene mutations found in all cases of MCC. Transcriptome analysis reveals large differences in gene expression between MCC and SCCIS, including epidermal markers and immune genes. Immunohistochemistry studies show increased expression of SOX2 in the MCC component.
Review
Dermatology
John S. Runge, Mio Nakamura, Annette Nichole Sullivan, Paul W. Harms, May P. Chan
Summary: Pigmented purpuric dermatosis (PPD) is a group of skin disorders characterized by red, brown, or golden macules and patches. We present 6 new cases of PPD involving the hand and review 17 previously reported cases. Cases of PPD involving the hand are rare and often require biopsy for accurate diagnosis.
AMERICAN JOURNAL OF DERMATOPATHOLOGY
(2022)
Article
Pathology
Julianne M. Szczepanski, Javed Siddiqui, Rajiv M. Patel, Paul W. Harms, Steven M. Hrycaj, May P. Chan
Summary: SATB2 can serve as an immunohistochemical marker for osteoblastic differentiation. The expression of SATB2 was evaluated in different cutaneous sarcomatoid neoplasms, and it was found to be common in these tumors except for atypical fibroxanthomas. Strong staining and a high-positive h-score can improve the specificity of SATB2 in differentiating these tumors from osteosarcoma.
Article
Dermatology
Olabisi Afolayan-Oloye, Lili Zhao, Trilokraj Tejasvi, May P. Chan, Paul W. Harms, Douglas R. Fullen, Ryan A. Wilcox, Alexandra C. Hristov
Summary: This study investigated the expression of CD30 in cutaneous B-cell lymphomas (CBCLs) and correlated it with clinicopathological features. The results showed that CD30 was expressed in 35% of CBCL cases, with varying intensity and extent. CD30 expression was most common in primary cutaneous follicle center lymphoma (PCFCL) and associated with favorable clinical features. In cases with strong and diffuse expression, CD30 could potentially be a therapeutic target.
JOURNAL OF CUTANEOUS PATHOLOGY
(2023)
Article
Multidisciplinary Sciences
Feiyang Ma, Olesya Plazyo, Allison C. C. Billi, Lam C. C. Tsoi, Xianying Xing, Rachael Wasikowski, Mehrnaz Gharaee-Kermani, Grace Hile, Yanyun Jiang, Paul W. W. Harms, Enze Xing, Joseph Kirma, Jingyue Xi, Jer-En Hsu, Mrinal K. K. Sarkar, Yutein Chung, Jeremy Di Domizio, Michel Gilliet, Nicole L. L. Ward, Emanual Maverakis, Eynav Klechevsky, John J. J. Voorhees, James T. T. Elder, Jun Hee Lee, J. Michelle Kahlenberg, Matteo Pellegrini, Robert L. L. Modlin, Johann E. E. Gudjonsson
Summary: Single cell and spatial transcriptomics can be used to investigate changes in Psoriasis and other inflammatory skin diseases during severity stages. The authors compared different inflammatory skin diseases and found differences in immune cells and inflammatory markers, with a particular focus on keratinocytes and fibroblasts. The study revealed IL-36 dependent amplification of IL-17A and TNF inflammatory responses in psoriasis, occurring within the supraspinous layer of the skin. They also identified a subset of SFRP2(+) fibroblasts in psoriasis that contribute to immune network amplification through a pro-inflammatory state transition.
NATURE COMMUNICATIONS
(2023)
Article
Dermatology
Ahmed K. Alomari, Paul W. Harms, Aleodor A. Andea, Simon J. Warren
Summary: This study investigates the characteristics and features of melanocytic tumors driven by MAP2K1 in-frame deletions. The findings suggest that these tumors share similarities with Spitz tumors but are better classified along the conventional pathway. Furthermore, they have a high mutational burden and show ultraviolet radiation features, similar to tumors with BRAF V600E mutations.
JOURNAL OF CUTANEOUS PATHOLOGY
(2023)
Review
Pathology
Paul W. Harms, Timothy L. Frankel, Myrto Moutafi, Arvind Rao, David L. Rimm, Janis M. Taube, Dafydd Thomas, May P. Chan, Liron Pantanowitz
Summary: Our understanding of human disease has evolved greatly in recent decades, particularly in the areas of immunology and cancer treatment. Advances in digital pathology have opened new avenues for studying the tumor microenvironment. Traditional tissue-based evaluations are limited in their ability to analyze complex quantitative data and multiple biomarkers, making multiplex staining techniques a promising alternative.
Article
Medicine, Research & Experimental
Monique E. Verhaegen, Paul W. Harms, Julia J. Van Goor, Jacob Arche, Matthew T. Patrick, Dawn Wilbert, Haley Zabawa, Marina Grachtchouk, Chia-Jen Liu, Kevin Hu, Michael C. Kelly, Ping Chen, Thomas L. Saunders, Stephan Weidinger, Li-Jyun Syu, John S. Runge, Johann E. Gudjonsson, Sunny Y. Wong, Isaac Brownell, Marcin Cieslik, Aaron M. Udager, Arul M. Chinnaiyan, Lam C. Tsoi, Andrzej A. Dlugosz
Summary: Merkel cell carcinoma (MCC) is an aggressive skin cancer that expresses specific genes similar to skin-resident Merkel cells. Researchers have used ATOH1 to induce MCC development in mice by cellular reprogramming. By conditionally expressing MCPyV TAgs and ATOH1 in mouse epidermal cells, they were able to generate MCC-like tumor cells from hair follicles. The study confirmed the similarity between mouse and human MCCs and revealed that loss of p53 is necessary for the progression of MCC in this mouse model.
JOURNAL OF CLINICAL INVESTIGATION
(2022)
Article
Oncology
Dimitrios Nasioudis, Stefan Gysler, Nawar Latif, Lory Cory, Robert L. Giuntoli II, Sarah H. Kim, Fiona Simpkins, Lainie Martin, Emily M. Ko
Summary: The prevalence of ERBB2 gene amplification was investigated among patients with gynecologic malignancies. The study found that ERBB2 amplification is frequently encountered in uterine serous carcinoma and mucinous ovarian carcinoma, but less common in endometrioid endometrial carcinoma.
GYNECOLOGIC ONCOLOGY
(2024)