scholarly journals Clinical Utility of Anti-Mullerian Hormone in Pediatrics

2021 ◽  
Author(s):  
Roopa Kanakatti Shankar ◽  
Tazim Dowlut-McElroy ◽  
Andrew Dauber ◽  
Veronica Gomez-Lobo
Keyword(s):  
Ovarian Reserve ◽  
Normative Data ◽  
Clinical Utility ◽  
Germ Cell Tumors ◽  
Predictive Marker ◽  
Testicular Tissue ◽  
Gonadal Development ◽  
Pediatric Care ◽  
Clinical Role ◽  
Pubertal Stage

Abstract Context Anti-Mullerian Hormone (AMH) was originally described in the context of sexual differentiation in the male fetus but has gained prominence now as a marker of ovarian reserve and fertility in females. In this mini review, we offer an updated synopsis on AMH and its clinical utility in pediatric patients. Design and Results A systematic search was undertaken for studies related to the physiology of AMH, normative data and clinical role in pediatrics. In males, AMH, secreted by Sertoli cells, is found at high levels prenatally and throughout childhood and declines with progression through puberty to overlap with levels in females. Thus, serum AMH has clinical utility as a marker of testicular tissue in males with differences in sexual development, cryptorchidism and in the evaluation of persistent Mullerian duct syndrome. In females, serum AMH has been used as a predictive marker of ovarian reserve and fertility, but pre-pubertal and adolescent AMH assessments need to be interpreted cautiously. AMH is also a marker of tumor burden, progression, and recurrence in germ cell tumors of the ovary. Conclusions AMH has widespread clinical diagnostic utility in pediatrics but interpretation is often challenging and should be undertaken in the context of not only age and sex, but also developmental and pubertal stage of the child. Non-standardized assays necessitate the need for assay-specific normative data. The recognition of the role of AMH beyond gonadal development and maturation may usher in novel diagnostic and therapeutic applications that would further expand its utility in pediatric care.

scholarly journals Analysis of the genomic landscape of yolk sac tumors reveals mechanisms of evolution and chemoresistance

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Xuan Zong ◽  
Ying Zhang ◽  
Xinxin Peng ◽  
Dongyan Cao ◽  
Mei Yu ◽  
...  
Keyword(s):  
Copy Number Alteration ◽  
Germ Cell Tumors ◽  
Gonadal Development ◽  
Yolk Sac ◽  
Mutational Signatures ◽  
Whole Exome ◽  
Genomic Landscape ◽  
Yolk Sac Tumors ◽  
Molecular Aberrations

AbstractYolk sac tumors (YSTs) are a major histological subtype of malignant ovarian germ cell tumors with a relatively poor prognosis. The molecular basis of this disease has not been thoroughly characterized at the genomic level. Here we perform whole-exome and RNA sequencing on 41 clinical tumor samples from 30 YST patients, with distinct responses to cisplatin-based chemotherapy. We show that microsatellite instability status and mutational signatures are informative of chemoresistance. We identify somatic driver candidates, including significantly mutated genes KRAS and KIT and copy-number alteration drivers, including deleted ARID1A and PARK2, and amplified ZNF217, CDKN1B, and KRAS. YSTs have very infrequent TP53 mutations, whereas the tumors from patients with abnormal gonadal development contain both KRAS and TP53 mutations. We further reveal a role of OVOL2 overexpression in YST resistance to cisplatin. This study lays a critical foundation for understanding key molecular aberrations in YSTs and developing related therapeutic strategies.

scholarly journals Systematic evaluation of scoring methods for Ki67 as a surrogate for 21-gene recurrence score

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Soonmyung Paik ◽  
Youngmee Kwon ◽  
Moo Hyun Lee ◽  
Ji Ye Kim ◽  
Da Kyung Lee ◽  
...  
Keyword(s):  
Clinical Utility ◽  
Recurrence Score ◽  
Predictive Marker ◽  
Labeling Index ◽  
Systematic Evaluation ◽  
Scoring Methods ◽  
Scoring Method ◽  
Ki67 Labeling Index ◽  
Risk Patients ◽  
Potential Clinical Utility

AbstractAlthough Ki67 labeling index is a potential predictive marker for chemotherapy benefit, its clinical utility has been limited by the lack of a standard scoring method resulting in poor interobserver reproducibility. Especially, there is no consensus on the use of average versus hotspot score for reporting. In order to determine the best method for Ki67 scoring and validate manual scoring method proposed by the International Ki67 Working Group (IKWG), we systematically compared average versus hotspot score in 240 cases with a public domain image analysis program QuPath. We used OncotypeDx Recurrence Score (RS) as a benchmark to compare the potential clinical utility of each scoring methods. Both average and hotspot scores showed statistically significant but only modest correlation with OncotypeDx RS. Only hotspot score could meaningfully distinguish RS low-risk versus high-risk patients. However, hotspot score was less reproducible limiting its clinical utility. In summary, our data demonstrate that utility of the Ki67 labeling index is influenced by the choice of scoring method.

scholarly journals Prognostic Value of Apoptosis-Inducing Factor (AIF) in Germ Cell Tumors

Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 776
Author(s):  
Katarina Letkovska ◽  
Pavel Babal ◽  
Zuzana Cierna ◽  
Silvia Schmidtova ◽  
Veronika Liskova ◽  
...  
Keyword(s):  
Germ Cell ◽  
Nuclear Translocation ◽  
Malignant Tumors ◽  
Expression Patterns ◽  
Germ Cell Tumors ◽  
Testicular Tissue ◽  
Testicular Germ Cell ◽  
Visceral Metastases ◽  
Apoptosis Inducing Factor ◽  
Clinicopathological Variables

Apoptosis is a strictly regulated process essential for preservation of tissue homeostasis. This study aimed to evaluate expression of apoptosis inducing factor (AIF) in testicular germ cell tumors (GCTs) and to correlate expression patterns with clinicopathological variables. Formalin-fixed and paraffin-embedded specimens of non-neoplastic testicular tissue and GCTs obtained from 216 patients were included in the study. AIF expression was detected by immunohistochemistry, scored by the multiplicative quickscore method (QS). Normal testicular tissue exhibits higher cytoplasmic granular expression of AIF compared to GCTs (mean QS = 12.77 vs. 4.80, p < 0.0001). Among invasive GCTs, mean QS was the highest in embryonal carcinoma, yolk sac tumor and seminoma, lower in teratoma and the lowest in choriocarcinoma. No nuclear translocation of AIF was observed. Nonpulmonary visceral metastases were associated with lower AIF expression. Metastatic GCTs patients with high AIF expression had better overall survival compared to patients with low AIF expression (HR = 0.26, 95% CI 0.11–0.62, p = 0.048). We observed significantly lower AIF expression in GCTs compared to normal testicular tissue, which is an uncommon finding in malignant tumors. AIF downregulation might represent one of the mechanisms of inhibition of apoptosis and promotion of cell survival in GCTs.

Aspects of the reproductive cycle and gonadal development of Murray cod, Maccullochella peelii peelii (Mitchell) (Percicthidae), in Lake Charlegrark and adjacent farm ponds, Victoria, Australia

1995 ◽  
Vol 46 (4) ◽  
pp. 723 ◽  
Author(s):  
GJ Gooley ◽  
TA Anderson ◽  
P Appleford
Keyword(s):  
Gonadosomatic Index ◽  
Testicular Tissue ◽  
Gonadal Development ◽  
Testicular Development ◽  
Male Fish ◽  
Farm Ponds ◽  
Macroscopic Classification ◽  
First Maturity ◽  
Murray Cod ◽  
Size At First Maturity

The gonadal development of Murray cod, Maccullochella peelii peelii, in Lake Charlegrark, Victoria, and adjacent farm ponds was evaluated. Gonadosomatic index, macroscopic classification and histological analysis were used to determine the age at first maturity and the gonadal development in this introduced population. There is a marked difference between the sexes in the size at first maturity, with females maturing at approximately 6 years of age and 2000 g in weight and males maturing at 3-4 years and 700 g. Gonadosomatic index data indicate that spawning occurs around November. Ovarian development in this species follows a pattern similar to that in a number of other teleosts. Testes have a lobular structure. Macroscopic evaluation of ovaries provided a good indication of the stage of the development of the gonad. However, the presence of spermatozoa throughout the year in the gonads of mature male fish makes the macroscopic evaluation of testicular development less reliable. Three cod, approximately 1% of the population, contained gonads with both ovarian and testicular tissue.

scholarly journals Aspects of fishing and reproduction of the black grouper Mycteroperca bonaci (Poey, 1860) (Serranidae: Epinephelinae) in the Northeastern Brazil

2004 ◽  
Vol 2 (1) ◽  
pp. 19-30 ◽  
Author(s):  
Simone Ferreira Teixeira ◽  
Beatrice Padovani Ferreira ◽  
Isaíras Pereira Padovan
Keyword(s):  
Size Structure ◽  
Ovarian Tissue ◽  
Gonadosomatic Index ◽  
Testicular Tissue ◽  
Gonadal Development ◽  
Northeastern Brazil ◽  
Multiple Spawner ◽  
Mycteroperca Bonaci ◽  
Fisheries Statistics ◽  
Feeding Aggregation

The reproductive biology of the black grouper Mycteroperca bonaci, caught by artisanal fishermen using hook and line or compressor - assisted spear fishing, from the Northeastern shelf and oceanic banks of Brazil, was studied between August 1996 and April 1998. The sexual pattern, gonadal development, the spawning mode and seasonality were investigated. The gonadal stages indicated that this species is a protogynous hermaphrodite and that transition from female to male occurs through simultaneous re-absorption of ovarian tissue and proliferation of testicular tissue in the gonads. The specie is a multiple spawner and frequency analysis of gonadal stages and gonadosomatic index suggest that the spawning season occurs between April and September. Considerations about the fisheries, related to size structure of fishes caught, were based on length frequency distribution. The phenomenon of "correção" was described based on ethnobiology studies and informations from the Northeast Fisheries Statistics Bulletin of the Brazilian Environmental Institute (IBAMA). The phenomenon of the "correção" undergone by Mycteroperca bonaci seems to be a Southward chain reaction (of the State of Ceará to Bahia) and is a feeding aggregation.

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