keyword
https://read.qxmd.com/read/38524661/challenges-in-the-management-of-turner-syndrome-with-y-chromosome-material-a-case-report-of-prophylactic-gonadectomy-revealing-dysgerminoma
#1
JOURNAL ARTICLE
Atsushi Tanioka, Yukihiro Matsukawa, Kenichi Sakamoto, Yoshie Matsuda, Suzuko Moritani, Yoshihiro Maruo
Turner syndrome (TS) patients with Y chromosome material face an increased risk of gonadal germ cell tumors (GCTs). This case report discusses the challenges in decision-making regarding prophylactic gonadectomy, considering the risk of malignancy and the desire to preserve fertility. We report a case of a 12-year-old female with mosaic TS and Y chromosome material who initially presented with short stature and obesity. Karyotype analysis showed a mixed cell line (45X and 46XY). Counseling about the increased risk of developing GCT and preservation of gonadal function was provided, and we decided to delay gonadectomy until the age of 12...
April 2024: International cancer conference journal
https://read.qxmd.com/read/38520057/review-of-neoplasia-in-fish-at-a-large-display-aquarium-2005-2021
#2
JOURNAL ARTICLE
Sarah E Wright, Michael Pawlik, Heindrich N Snyman, Martin Haulena
Fish maintained in managed care may have longer lifespans as a result of advances in veterinary medicine and husbandry and reduced risk of predation. Neoplasia is of increasing interest in managed aquarium populations. However, few studies have systematically evaluated neoplasia in managed fish populations. Our objective in this retrospective study was to review and describe neoplasia diagnosed in fish at a large public display aquarium between 2005 and 2021. Any fish diagnosed with neoplasia on either antemortem or postmortem evaluation during the study period was included, and all medical records, biopsy, and autopsy reports were reviewed...
March 22, 2024: Journal of Veterinary Diagnostic Investigation
https://read.qxmd.com/read/38468475/malignant-ovarian-and-testicular-germ-cell-tumors-common-characteristics-but-different-prognoses
#3
REVIEW
Camilla Sköld, Anna K Jansson, Ingrid Glimelius
Both ovarian and testicular germ cell tumors (GCTs) arise from the primordial germ cell and share many similarities. Both malignancies affect mainly young patients, show remarkable responsiveness to cisplatin-based therapy, and have an excellent prognosis, which also highlights the importance of minimizing long-term side effects. However, certain differences can be noted: The spreading of the disease differs, and the staging system and treatment recommendations are dissimilar. Moreover, the prognosis for ovarian GCTs is significantly inferior to that for testicular cancer, as exemplified in this review comparing the survival in Swedish patients diagnosed with testicular (1995-2022) and ovarian (1990-2018) GCTs...
March 11, 2024: Journal of Internal Medicine
https://read.qxmd.com/read/38448741/dysgerminoma-probably-due-to-a-novel-sohlh1-pathogenic-variant-causing-familial-ovarian-dysgenesis
#4
JOURNAL ARTICLE
Camilo E Villarroel, Juan C Zenteno, Tania Barragán-Arévalo, Paula Leal-Anaya, Estela Pérez-Muñoz, Christian L Frías-Soria, Eduardo López-Corella, Emiy Yokoyama
Pathogenic variants of the SOHLH1 gene are responsible for an autosomal recessive form of ovarian dysgenesis; this gene encodes a transcription factor expressed early in spermatogonia and oocytes and contributes to folliculogenesis. Previously, four affected women from two unrelated families reported homozygous variants in the SOHLH1 gene, but none had a history of gonadal malignancy or a histologic description. We present two sisters and their paternal great-aunt with a history of primary amenorrhea, pubertal delay, and hypergonadotrophism who came from an inbred Mexican family...
March 6, 2024: Reproductive Sciences
https://read.qxmd.com/read/38380211/a-comprehensive-review-of-current-trends-in-the-diagnosis-and-treatment-of-ovarian-germ-cell-tumors
#5
REVIEW
Ketki S Dantkale, Manjusha Agrawal
Ovarian germ cell tumors constitute a rare and intricate spectrum of neoplasms characterized by diverse histological subtypes. This comprehensive review elucidates the classification, diagnosis, treatment, prognosis, and unique challenges associated with these tumors. The classification is rooted in histological attributes, with principal subtypes encompassing dysgerminoma, immature teratoma, yolk sac tumor (endodermal sinus tumor), choriocarcinoma, and mixed germ cell tumors. Each subtype bears distinct characteristics and clinical implications, necessitating precise diagnosis and tailored therapeutic strategies...
January 2024: Curēus
https://read.qxmd.com/read/38317250/controlled-ovarian-stimulation-in-cancer-patients-under-18-years-old-a-case-series
#6
JOURNAL ARTICLE
Azar Yahyaei, Mahdieh Moridi, Firouzeh Ghaffari
BACKGROUND: Fertility preservation for adolescent pubescent girls is a concern of the healthcare system and parents. Oocyte cryopreservation is regarded as a standard medical intervention for patients with a minimum age of 18 years. Evidence suggests that mature oocyte cryopreservation is possible for adolescent pubescent girls, although, ovarian stimulation for these patients remains a challenge. CASES PRESENTATION: This case series is the first report regarding ovarian stimulation with oocyte cryopreservation in younger than 18 years cancerous girls, who refer to ROYAN institute, Tehran, Iran, prior to the start of the treatment of cancer (November 2015 to February 2021)...
February 5, 2024: Journal of Ovarian Research
https://read.qxmd.com/read/38281483/rare-case-of-turner-syndrome-patient-with-metastatic-dysgerminoma-and-no-y-chromosomal-material-with-pathogenic-variants-found-in-kit-and-mtor
#7
Camilla Mains Balle, Christine Gaasdal Kassentoft, Jolinda Iris van Heusden, Michael Knudsen, Line Raaby, Claus Højbjerg Gravholt
INTRODUCTION: The presence of Y-chromosomal material in females with Turner syndrome (TS) is a well-established risk factor for developing gonadoblastoma and malignant transformations hereof. However, these events are rarely seen in TS patients with no Y-chromosomal material. Thus, it is the current understanding that parts of the Y-chromosome are essential for malignant transformation of gonadoblastoma in the dysgenetic gonad. METHODS: We report a case of a TS female with an apparent 46,X,idic(Xq) karyotype, who was diagnosed with a metastatic dysgerminoma...
January 27, 2024: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://read.qxmd.com/read/38251991/a-retrospective-study-of-disease-processes-in-maned-wolves-chrysocyon-brachyurus-in-north-american-zoological-institutions-with-emphasis-on-urolithiasis-inflammatory-bowel-disease-and-neoplasia
#8
JOURNAL ARTICLE
Magdalena Marcinczyk, Nucharin Songsasen, Elizabeth E Hammond, Georgina DeCesare, Melissa Rodden, Denise McAloose
The objective of this retrospective study is to summarize causes of disease and mortality in maned wolves ( Chrysocyon brachyurus ) in the North American Species Survival Plan Program (SSP) population. This information will inform and enhance animal health, husbandry, and conservation efforts. Pathology reports were requested from all zoological institutions housing maned wolves between 1930 and 2021. Data were reviewed and cause of death (COD) and reported diseases were summarized and compared by age group, organ system and disease process...
January 2024: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://read.qxmd.com/read/38228517/-swyer-syndrome-with-gonadal-non-dysgerminoma-malignant-germ-cell-tumors-a-report-of-15-cases-in-a-national-medical-center
#9
JOURNAL ARTICLE
H Liang, S J Li, J X Yang, M Wu, D Y Cao, J H Wang, T Wang, X Y Zhang
Objective: To evaluate the incidence, treatment, and survival outcomes of Swyer syndrome with gonadal non-dysgerminoma malignant germ cell tumor (MGCT-NDG). Methods: A retrospective study was performed on Swyer syndrome patients with MGCT-NDG between January 2011 and December 2022 in Peking Union Medical College Hospital to investigate their characteristics and outcomes. Results: A total of 15 patients (4.9%, 15/307) with Swyer syndrome were identified in 307 MGCT-NDG patients. The average age at diagnosis of MGCT-NDG and Swyer syndrome were (16...
January 25, 2024: Zhonghua Fu Chan Ke za Zhi
https://read.qxmd.com/read/38171036/frequent-expression-of-cd45ro-memory-t-cell-marker-as-well-as-low-to-high-expression-of-pd-1-and-pd-l1-inhibitory-molecules-in-seminoma-and-dysgerminoma
#10
JOURNAL ARTICLE
Hadiseh Farahani, Amir Reza Dehghanian, Aida Khademolhosseini, Mohammad Reza Haghshenas, Nasrollah Erfani
BACKGROUND: Seminoma and dysgerminoma are rare testicular and ovarian germ cell tumors characterized by a significant infiltration of immune cells in the tumor microenvironment. According to the failure of conventional treatments in some patients, it is crucial to identify novel prognostic and therapeutic biomarkers for these patients. The objectives of this study were to evaluate the expression of CD45RO and PD-1/PD-L1 and investigate their association with the clinicopathological characteristics of the patients...
December 15, 2023: Journal of Reproductive Immunology
https://read.qxmd.com/read/38078466/prevalence-distribution-and-risk-markers-for-the-development-of-gonadal-germ-cell-tumors-in-patients-with-certain-types-of-disorders-of-sexual-differentiation-with-y-chromosome-a-retrospective-study
#11
JOURNAL ARTICLE
Darvin V Das, P K Jabbar, Ramesh Gomez, Bindu Nambisan, M S Bhuvitha, Abilash Nair, C Jayakumari
PURPOSE: To study the prevalence, subtypes, and risk markers for the development of gonadal germ cell tumors (GCT's) among disorders of sexual differentiation (DSD) patients with the Y chromosome. MATERIALS AND METHOD: Design: A retrospective review of the patient's case records from 2010 to 2020 in Government Medical College, Thiruvananthapuram, India was studied. The study participants included 54 subjects with DSD containing the Y chromosome. Demographic data, external masculinization scoring, associated congenital anomalies, karyotyping, intraoperative findings such as gonadal location and internal genital ducts, histopathology of the resected gonads, and its immunohistochemistry were collected...
December 6, 2023: Indian Journal of Cancer
https://read.qxmd.com/read/38033015/diffusion-weighted-imaging-in-pediatric-extracranial-germ-cell-tumors
#12
JOURNAL ARTICLE
Carlos Eduardo Bezerra Cavalcante, Fernanda Magalhães Pereira Souza, Gisele Eiras Martins, Marcelo Milone Silva, Carla Renata Pacheco Donato Macedo, Henrique Lederman, Luiz Fernando Lopes
BACKGROUND: Germ cell tumors (GCTs) comprise a rare and heterogeneous group of neoplasms presenting different clinical and histological characteristics, leading to a challenging scenario in clinical practice. Diffusion-weighted imaging (DWI) has been suggested as an indirect marker of tumor density and cellularity and could be used to monitor therapeutic response. However, its role in pediatric GCTs needs to be clarified. PURPOSE: Here, we evaluated the features of DWI in pediatric extracranial GCTs in a reference Brazilian institution...
2023: PloS One
https://read.qxmd.com/read/37994022/a-rare-case-of-swyer-syndrome-from-pakistan-in-a-young-girl-with-primary-amenorrhea-and-46xy-genotype
#13
JOURNAL ARTICLE
Inshal Jawed, Ayesha Azhar Javed, Syeda Alisha Johar, Daayl N Mirza, Ayesha A Abdani, Asad Ali Khan
Swyer syndrome is a condition where individuals with a 46XY karyotype, typically associated with males, display complete gonadal dysgenesis and lack testicular differentiation. This results from a mutation in the SRY gene, which is essential for testis development. As a consequence, affected individuals who appear phenotypically female have male chromosomes but do not develop functional testes. As a result, there is an absence of testosterone that leads to lack of masculinization and the presence of female genitalia...
2023: Women's Health
https://read.qxmd.com/read/37981904/malignant-ovarian-dysgerminoma-in%C3%A2-a%C3%A2-16-year-old-leopard-gecko-eublepharis-macularius
#14
Henrieta Zborilova, Janosch Dietz, Kim Oliver Heckers, Radka Dvorakova, Zdenek Knotek, Eva Cermakova
The 16-year-old female leopard gecko ( Eublepharis macularius ) was presented with distended coelom and cachexia. Examination of the faecal sample ruled out the presence of protozoan parasites. A radiographic examination confirmed the presence of radiopaque foreign material in the intestine. The conservative treatment with tramadol, butylscopolamine, famotidine, vitamin B complex, and supportive fluid therapy with Hartmann solution and Duphalyte, was performed for 14 days...
March 2023: Veterinární Medicína
https://read.qxmd.com/read/37976717/a-non-pregnant-woman-with-elevated-beta-hcg-a-rare-case-of-ovarian-seminoma
#15
Fathi Mraihi, Jihene Basly, Zeineb Ghali, Amani Mezni, Malek Amami, Dalenda Chelli
INTRODUCTION: Ovarian seminoma is a rare germ cell tumor that typically affects young women. Early diagnosis of malignant tumors, although difficult due to mild symptoms, is crucial for a better prognosis. Here we report the case of a 15-year-old female patient with a large malignant ovarian dysgerminoma to provide a comprehensive overview of the diagnosis and management of this pathology and to help practitioners make an early diagnosis. CASE PRESENTATION: A 15-year-old patient with no significant past medical history presented to the Obstetrics and Gynecology emergency D in Tunisia with subacute abdominal pain, fever, and unexplained weight loss...
November 11, 2023: International Journal of Surgery Case Reports
https://read.qxmd.com/read/37954076/seminoma-and-dysgerminoma-evidence-for-alignment-of-clinical-trials-and-de-escalation-of-systemic-chemotherapy
#16
JOURNAL ARTICLE
Georgina E Wood, Christopher P Bunting, Mesel Veli, Rupali Arora, Daniel M Berney, Constantine Alifrangis, Nicola D MacDonald, Rowan E Miller, Jonathan Shamash, Sara Stoneham, Michelle Lockley
Malignant germ cell tumours are a group of rare cancers whose incidence peaks in late adolescence and early adulthood. Dysgerminomas of the ovary and seminomas of the testis are analogous diseases, but seminomas have a 10-fold higher incidence. The two tumours are morphologically identical and are only differentiated by surrounding organ-specific tissue or testicular germ cell neoplasia in situ . They share genetic features including KIT and RAS mutations, amplification of chromosome 12p, and expression of pluripotency markers (NANOG (Nanog homeobox), OCT3/4 (Octamer-binding transcription factor 3/4), and SAL4 (Spalt-like trascription factor 4))...
2023: Frontiers in Oncology
https://read.qxmd.com/read/37921603/study-of-neoadjuvant-chemotherapy-in-advanced-malignant-ovarian-germ-cell-tumors-at-a-tertiary-center-in-western-india
#17
JOURNAL ARTICLE
Abhilash Vasanth, Shilpa M Patel, Ruchi Arora, Chetana D Parekh, Pariseema Dave, Bijal M Patel, Priyanka Vemanamandhi
OBJECTIVE: To study clinical characters and outcomes in patients of malignant ovarian germ cell tumor (MOGCT) undergoing surgery following neoadjuvant chemotherapy (NACT). METHODS: Retrospective study of patients undergoing surgery following NACT for MOGCT at our institute. Platinum based chemotherapy was given in all patients in NACT. RESULTS: Between March 2013 and February 2023, 30 patients had surgery after NACT. Patient's median age was 22 years (range, 12 to 35 years) and median follow up 42months (range, 6 to 132 months)...
October 23, 2023: Journal of Gynecologic Oncology
https://read.qxmd.com/read/37737565/fertility-sparing-approach-to-malignant-ovarian-germ-cell-tumors-oncologic-and-obstetric-outocome-a-retrospective-study
#18
JOURNAL ARTICLE
Ali Ayhan, Mehmet Tunç, Hüseyin Akıllı, Nihan Haberal, Ali Haberal
OBJECTIVE: To evaluate oncologic (such as disease-free and overall survival) and obstetric outcomes in patients diagnosed with malignant ovarian germ cell tumors (MOGCTs). METHODS: Patients diagnosed with MOGCTs between March 2007 and February 2022 were evaluated and patients who underwent fertility sparing surgery were included in this retrospective study. The obstetric and oncologic outcomes were evaluated by collecting data up until the patient's last follow-up visit from the hospital records and patient files...
September 22, 2023: International Journal of Gynaecology and Obstetrics
https://read.qxmd.com/read/37668336/extraovarian-dysgerminoma-involving-the-uterine-cervix-a-rare-case-report-with-literature-review
#19
JOURNAL ARTICLE
Yasunori Yoshino, Shiori Yanai, Mari Sawada, Shintaro Sakate, Kiyoshi Kanno, Tomonori Hada, Toshihiro Ueda, Tetsuya Tabata, Masako Omori, Masaaki Andou
Primary extraovarian dysgerminoma (EOD) is a very rare disease. There is no literature about primary EOD involving the uterine cervix. We herein present details of a unique case of primary EOD involving the uterine cervix. A 46-year-old woman with uterine cervical tumor was referred to our institution with atypical genital bleeding. A polypoid tumor localized to the uterine cervix was found. Cervical biopsy detected malignant components of likely nonepithelial cell origin. Preoperative imaging examinations showed a uterine cervical tumor measuring ~5 cm, suggestive of malignancy without distant or lymph node metastases...
August 14, 2023: International Journal of Gynecological Pathology
https://read.qxmd.com/read/37625143/a-perplexing-case-of-a-germ-cell-tumor-a-case-report
#20
JOURNAL ARTICLE
Priyank Rajan, Ruchira Misra, Sujata Mushrif, Bhuvaneswari Kandalkar, Ruchi Parikh, Rasiklal Shah, Purna Kurkure
Germ cell tumors (GCTs) are associated with pure gonadal dysgenesis or Swyer syndrome. Swyer syndrome usually presents with primary amenorrhea, streak ovaries, and mixed GCT. However, our patient presented with secondary amenorrhea, normal female external genitalia, and a mixed GCT. Constitutional karyotype was suggestive of 46,XY. Management comprised chemotherapy, followed by surgery. Histopathology was suggestive of dysgerminoma complicating a gonadoblastoma. The purpose of reporting this case is its rarity and the importance of diagnosing an XY karyotype, as the incidence of GCTs is higher in these patients...
October 1, 2023: Journal of Pediatric Hematology/oncology
keyword
keyword
43091
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.