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INTRODUCTION: Current histomorphological criteria in distinguishing two subtypes of hydatidiform moles has considerable inter-observer variability and limitations. In this regard, ancillary studies can aid pathologist to obtain an accurate diagnosis. Herein, we evaluated the utility of Glycophorin-A (GLA) in differentiating complete and partial moles. MATERIALS AND METHODS: In this case-control study, formalin-fixed paraffin-embedded blocks of 47 patients with pathologic diagnosis of complete and 42 partial hydatidiform moles were included and the diagnoses were confirmed by immunohistochemistry (IHC) for P57. Sections from all samples were stained for GLA using IHC method. Using 2 × 2 tables, the sensitivity, specifity, Positive and Negative Predictive Values (PPV and NPV) as well as accuracy of GLA were determined. RESULTS: Primary pathologic diagnosis was changed in 7.1% and types of hydatidiform mole were specified in 11.9% of the cases after review of the slides and IHC study for P57. NRBCs were found in 52.7% of the PM cases and none of CMs by pathologist in H&E sections. IHC study for GLA revealed positive result in one case of complete moles (2%) and 31 case of partial mole samples (73.8%). It was negative in 98% of the complete mole and 11 (26.2%) of partial mole cases. DISCUSSION: The results of this study showed a significant association between GLA immunoreactivity and type of molar pregnancy. Diagnostic sensitivity, specificity and accuracy of this marker for discrimination of molar pregnancy were 73.8%, 98% and 86.5%, respectively. Therefore, this marker can be utilized in differentiating partial and complete hydatidiform mole.
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Inibidor de Quinase Dependente de Ciclina p57/metabolismo , Glicoforinas/metabolismo , Mola Hidatiforme/diagnóstico , Mola Hidatiforme/patologia , Imuno-Histoquímica/métodos , Adulto , Estudos de Casos e Controles , Gonadotropina Coriônica Humana Subunidade beta/sangue , Estudos Transversais , Diagnóstico Diferencial , Feminino , Idade Gestacional , Humanos , Mola Hidatiforme/metabolismo , Irã (Geográfico)/epidemiologia , Variações Dependentes do Observador , Valor Preditivo dos Testes , Gravidez , Estudos Retrospectivos , Sensibilidade e Especificidade , Coloração e Rotulagem/métodosRESUMO
OBJECTIVE: The Bethesda System 2001 for reporting cervical cytology recommends reporting benign-appearing, exfoliated endometrial cells in women aged 40 years or older. The objective of this study was to determine the significance of normal endometrial cells in conventional Papanicolaou (Pap) tests of women aged 40 years and older and to correlate this finding with histological follow-up. STUDY DESIGN: Over a period of 5 years, all Pap tests showing endometrial cells in women aged ≥ 40 years were identified. Histological follow-up and outcome were evaluated. RESULTS: Out of 17,275 Pap tests, 199 (1.15%) showed benign endometrial cells. Forty-seven of these 199 patients had subsequent tissue sampling by surgical procedures including endometrial curettage (n = 31), lower genital tract biopsy (n = 30) and hysterectomy (n = 2). Overall, out of 47 cases, 3 (6.4%) had significant endometrial pathology including 2 simple hyperplasias without atypia and 1 complex hyperplasia with atypia. CONCLUSION: The incidence of clinically significant endometrial lesions associated with the presence of endometrial cells in Pap tests of women aged 40 years and older was very low. Considering this finding, women aged between 40 and 50 years with benign endometrial cells in a Pap test should undertake endometrial sampling only when additional clinical indicators are recognized.
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Adenocarcinoma/patologia , Hiperplasia Endometrial/patologia , Neoplasias do Endométrio/patologia , Endométrio/patologia , Teste de Papanicolaou , Esfregaço Vaginal , Adenocarcinoma/epidemiologia , Adulto , Fatores Etários , Hiperplasia Endometrial/epidemiologia , Neoplasias do Endométrio/epidemiologia , Feminino , Humanos , Incidência , Irã (Geográfico)/epidemiologia , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Fatores de TempoRESUMO
BACKGROUND: The coexistence primary cancers of the endometrium and ovary are relatively uncommon. The purpose of this study was to characterize patients diagnosed primary synchronous endometrial and ovarian cancer (SEOC), endometrial cancer (EC) with ovarian metastasis, and ovarian cancer (OC) with endometrial metastasis and compare clinicopathologic variables and prognosis. MATERIALS AND METHODS: All the patients with diagnosis of both endometrium and OC, who hospitalized between 2002 and 2012 in an academic center affiliated to Tehran University of Medical Sciences, were evaluated with respect to different clinicopathologic variables, follow-up times, and outcomes. RESULTS: Fifty-five patients had been diagnosed with both endometrium and OC. 17, 26, and 12 patients were diagnosed as SEOC, EC, and OC, respectively. The frequency of abnormal uterine bleeding was significantly lower in OC (16.7%) compared to others (58.8% in SEOC and 53.8% in EC). However, the abdominal/pelvic pain was significantly higher in OC (50%) compared to others (35.3% in SEOC and 34.6% in EC) (P < 0.05). Complex atypical hyperplasia (87.5%), endometriosis (88.8%), and endometrioid carcinoma (54.5%) was observed most in SEOC group. The duration of follow-up time was between 3 and 171 months with a mean of 16 months. There was no death in SEOC who followed. Survivals of patients between three group were statistically significant (P = 0.032). CONCLUSION: Our results showed that overall survival (OS) and progression-free survival (PFS) of SEOC patients is better than those with EC and OC (P = 0.032).
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PURPOSE: Human papilloma virus (HPV) infection is the most important cause of cervical cancer, but only 2 % of cervical HPV infections will develop into cervical cancer. p16 INK4A has been introduced as a marker for HPV infection in cervix. HPV L1 capsid protein is also known to be associated with the productive phase of HPV infection; however, expression pattern in different HPV-associated cervical lesion and its correlation to p16 expression is not still well understood. The authors aimed to elucidate the relationship between L1 and p16 expression in cervical lesions. METHODS: Immunohistochemical studies using antibodies against L1 capsid and P16 proteins were carried out on 89 paraffin-embedded tissue samples including 11 low-grade cervical intraepithelial neoplasias (CIN), 11 high-grade CINs, 20 cervical squamous cell carcinomas (SCC), eight cervical adenocarcinomas and 39 normal cervical tissues as a control group. RESULTS: L1 capsid protein was positive in 63.6 % of low-grade CINs and 9.1 % of high-grade CINs; while none of the cervical SCCs, adenocarcinomas or normal cervical tissues showed this marker. In contrast, p16 protein was positive in 81.8 % of low-grade CINs, 90.1 % of high-grade CINs, 90 % of SCCs, 75 % of adenocarcinomas and 10.25 % of normal cervical tissues (p value < 0.001). CONCLUSION: Despite the presence of interobserver variation in the histopathologic interpretation of cervical lesions, in more instances definite diagnosis is made by routine histopathological examination and these ancillary tests are supportive in follow-up of the patient.
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Adenocarcinoma/metabolismo , Biomarcadores Tumorais/metabolismo , Proteínas do Capsídeo/metabolismo , Proteínas de Neoplasias/metabolismo , Proteínas Oncogênicas Virais/metabolismo , Displasia do Colo do Útero/metabolismo , Neoplasias do Colo do Útero/metabolismo , Adenocarcinoma/patologia , Estudos de Casos e Controles , Inibidor p16 de Quinase Dependente de Ciclina , Feminino , Humanos , Imuno-Histoquímica , Neoplasias do Colo do Útero/patologia , Displasia do Colo do Útero/patologiaRESUMO
Rhabdomyosarcoma (RMS) is one of the most common soft-tissue sarcomas that engage the embryonal skeletal muscle cells as the female reproductive tract. Embryonal RMS (ERMS) is the most prevalent subtype of RMS in the female genital tract. Botryoid RMS is a rapidly growing rare malignancy and a polypoid variant of ERMS that occurs in childhood and constituting approximately 3% of all RMSs among young children and 1% among adolescents and young adults. A 50 year old menopause woman who had been vaginal discharge and bleeding for about 2 years without dysuria, dyspareunia, or postcuital bleeding was informed consent for presenting. A vaginal examination, pathology examination, sonography, magnetic resonance imaging, immunohistochemistry, surgery and radical hysterectomy, radiation therapy, and two sessions of brachytherapy were performed. After 22 months of follow-up, the patient had no evidence of recurrence or any problem in sexual activity. Oncological surgical treatment based on the carcinoma site and adjuvant chemotherapy is helpful for the treatment of RMS. However, applying the standard treatment guidelines is essential, although it is very scarce and difficult.
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Background & Objective: GATA3 immunohistochemistry has been described as a highly sensitive marker in determining carcinomas of breast and urothelial origin. In the gynecologic system, it can be used as a marker to diagnose mesonephric or mesonephric-like carcinomas and trophoblastic tumors. The present study was performed to determine the diagnostic value of GATA3 in gynecological adenocarcinomas. Methods: A total of 187 samples from different types of endometrial, endocervical, and ovarian carcinomas were analyzed for intensity and percentage of GATA3 expression in tumor cells. The relationship between GATA3 expression and clinicopathological parameters was investigated. Results: A total of 187 patients including 101 ovarian, 77 endometrial, and 9 endocervical adenocarcinomas were investigated. Weak and focal expression of this marker was observed in 5. 1% (4/77) endometrial, 12.9% (13/101) ovarian, and 11.1% (1/9) endocervical adenocarcinomas. The mean H score in all subtypes was less than 10.6 (2-35). There was no statistically significant correlation between GATA3 expression in tumor cells with clinical stage, and tumor recurrence or metastasis. Conclusion: GATA3 is infrequently, weak, or focally expressed in most of the common gynecological adenocarcinomas.
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Myoepithelioma-like tumors of the vulvar region (MELTVR) are rare. Only a limited number of MELTVRs are reported in the literature, and various aspects of this lesion still need to be clarified. In this study, we reported a case of MELTVR in a 46-year-old female. The uniqueness of the present case was its large size (12 cm) compared to the MELTVRs reported in earlier studies, the presence of two separate but attached lesions (one in labia majora and one in the mons pubis), and two recurrences within ten years after wide local excision. The second recurrence was managed with wide excision, and the patient remained disease-free during the two-year follow-up. This case highlights the local aggressiveness of MELTVR and the necessity of resection with an adequate margin. It also urges more awareness regarding the differential diagnosis of MELTVR with other lesions of the vulva, particularly when located in the labia majora and mons pubis.
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Cervical cancer is one of the most common genital cancers in the woman with approximately half a million new cases per year. Development of invasive squamous cell carcinoma (SCC) is the result of persistent and frequent human papilloma virus infection in premalignant lesions of cervix. Thereby identification of biomarkers that could predict progression of dysplastic mucosa to invasive cancer is of great clinical significance. Overexpression of SIRT1 has been reported to induce tumorogenesis in several organs. We evaluated SIRT1 expression in normal squamous epithelium of cervix, low-grade and high-grade cervical intraepithelial lesions and invasive SCC. A total of 104 cases were selected including 34 low-grade cervical intraepithelial lesions (CINs), 37 high-grade CINs, and 35 cases of invasive SCC. The normal cervical epithelium showed negative or weak SIRT1 positivity only in basal layers. SIRT1 cytoplasmic expression was found in 13 of 34 (38.2%) of low-grade CINs, 31 of 37 (83.8%) of high-grade CINs and all 35 (100%) cases of invasive SCC. Expression between 2 groups of CIN was statistically significant ( P =0.001). Thus, SIRT1 appears to be a promising biomarker for predicting the progression of CIN to invasive SCC.
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Carcinoma de Células Escamosas , Displasia do Colo do Útero , Neoplasias do Colo do Útero , Feminino , Humanos , Imuno-Histoquímica , Sirtuína 1 , Neoplasias do Colo do Útero/patologia , Carcinoma de Células Escamosas/patologia , Biomarcadores Tumorais/metabolismoRESUMO
OBJECTIVE: Because the specific prevalence and carcinogenesis of non-16/18 high-risk (hr) Human Papillomavirus (HPV) is not fully understood, we designed a study with aim of evaluating the risk of high-grade cervical intraepithelial neoplasia (CIN) in non-16/18 hr-HPV positive/cytology negative cases and assessing the distribution of non-16/18 hr-HPV subtypes. MATERIALS AND METHODS: This cross-sectional study was conducted on 138 non-16/18 hr-HPV positive/cytology negative women, who were referred to the gynecologic oncology clinic of Yas hospital, affiliated with Tehran University of Medical Sciences, January 2021 to 2022. RESULTS: Among the detected types, HPV 31 was the most frequent type. 63 cases underwent biopsy as indicated based on colposcopic examination with acetic acid 3% application among which 34 had normal results. In the remaining 29 cases, 25 had insignificant findings. CIN2 was reported in 2 cases, one with HPV 31, 45, 58, and the other with HPV 58. CIN3 was also detected in 2 cases, one with HPV 31 and the other with HPV 35, 45. The overall incidence of high-grade CIN was 2.8%. A statistically significant (P-value = 0.046) difference was detected between patients with high-grade CIN compared with the others regarding the Hookah usage. CONCLUSION: The risk of CIN among non-16/18 hr-HPV positive/cytology negative cases is noticeably low. Based on ASCCP guidelines return testing at 1 year without immediate colposcopy seems sufficient; however, because of many reasons doing immediate colposcopy rather than 1-year follow-up may be a more accessible approach in resource poor, low-income countries such as ours.
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Infecções por Papillomavirus , Displasia do Colo do Útero , Neoplasias do Colo do Útero , Gravidez , Feminino , Humanos , Papillomavirus Humano , Neoplasias do Colo do Útero/patologia , Estudos Transversais , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/epidemiologia , Infecções por Papillomavirus/diagnóstico , Citologia , Irã (Geográfico)/epidemiologia , Displasia do Colo do Útero/patologia , Colposcopia/métodos , PapillomaviridaeRESUMO
BACKGROUND: Complete and partial moles (PM) are the most common gestational trophoblastic diseases. Due to some overlapping morphological findings, ancillary studies may be necessary. METHODS: In this cross-sectional study, 47 cases of complete mole (CM) and 40 cases of PM were randomly selected based on histopathological criteria. Only those cases that were agreed upon by two expert gynecological pathologists and confirmed by the P57 IHC study were included. The expression level of the Twist-1 marker in villi stromal cells, as well as syncytiotrophoblasts, was evaluated quantitatively (percentage of positive cells), qualitatively (staining intensity) and as a total comprehensive score. RESULTS: Expression of Twist-1 is higher and more intense in villous stromal cells of CMs (p < 0.001). Moderate to strong staining intensity in more than 50% of villous stromal cells, can differentiate CM and PM with 89.5% sensitivity and 75% specificity. In syncytiotrophoblasts of CM, Twist-1 expression was significantly lower than PM (p < 0.001). Negative or weak staining intensity in less than 10% of syncytiotrophoblasts, can distinguish CM and PM with 82.9% sensitivity and 60% specificity. CONCLUSION: A higher expression of Twist-1 in villous stromal cells of hydatidiform moles is a sensitive and specific marker for the diagnosis of CMs. An elevated expression of this marker in villous stromal cells suggests another pathogenic mechanism for more aggressiveness of CMs in addition to the characteristics of trophoblast cells. The opposite result was obtained in the expression of Twist-1 in the syncytiotrophoblasts, compatible with defects in the process of formation of these supportive cells in CMs.
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Mola Hidatiforme , Proteína 1 Relacionada a Twist , Neoplasias Uterinas , Feminino , Humanos , Gravidez , Estudos Transversais , Inibidor de Quinase Dependente de Ciclina p57/metabolismo , Mola Hidatiforme/diagnóstico , Mola Hidatiforme/metabolismo , Mola Hidatiforme/patologia , Imuno-Histoquímica , Neoplasias Uterinas/diagnóstico , Neoplasias Uterinas/patologia , Proteína 1 Relacionada a Twist/metabolismoRESUMO
INTRODUCTION AND IMPORTANCE: Mullerian adenosarcoma is a rare malignancy that generally occurs in the uterine corpus but uncommonly, it may be found extrauterine. Ovarian adenosarcoma is extremely rare and often is presented in reproductive age women. Most of them are low grade and have à good prognosis except for adenosarcoma with sarcomatous overgrowth. CASE PRESENTATION: A 77-year-old menopausal woman presented with abdominal discomfort. She had severe ascites and elevated levels of CA-125, CA 19-9, and HE4 tumor markers. Adenosarcoma with sarcomatous overgrowth was diagnosed after the histopathological examination of the surgical biopsy. CONCLUSION: The possibility of endometriosis transformation to malignancy even in postmenopausal women may warrant continuous follow-up for early diagnosis of ovarian cancer, this potentially fatal disease. More studies are needed to find the best therapeutic approach to adenosarcoma with sarcomatous overgrowth.
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PURPOSE: The purpose of this study was to investigate the usefulness of immunocytochemical detection of HPV L1 capsid protein expression in predicting the course of cervical intraepithelial neoplasia. BACKGROUND: It is known that most of the low grade dysplastic lesions of cervix uteri regress spontaneously and only some will progress to high grade dysplastic lesions. HPV L1 capsid protein represents about 90% of the total protein on the surface of the virus and can be detected in mild to moderate dysplasia and rarely in severe dysplasia. METHODS: Pap smears from 65 women, in whom diagnoses of LSIL (n = 43) and HSIL (n = 22) were made on cytology and histology specimens, were immunocytochemically stained using antibody against HPV L1capsid protein. The results of immunocytochemical analysis were correlated with the outcome during the 24-month follow-up. p value <0.05 was considered significant. RESULTS: The immunostaining reaction for L1 capsid protein was positive in 28 cases (65.1%) of LSIL while 15 (34.9%) cases of LSIL and all of the 22 cases of HSIL were negative (p < 0.001). After 24 months of follow-up, among the 28 L1-positive LSIL cases, we found a 60.7% (17/28) spontaneous regression rate, whereas in the 15 L1-negative LSIL patients, the regression rate was 33.3% (5/15). Out of the 22 HSIL cases, 13.6% (3/22) had regression. CONCLUSION: Our data support that immunocytochemical detection of HPV-L1 protein could present prognostic information about the evolution of early dysplastic cervical lesions and can be useful in predicting their biologic potential.
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Proteínas do Capsídeo/biossíntese , Proteínas Oncogênicas Virais/biossíntese , Displasia do Colo do Útero/metabolismo , Neoplasias do Colo do Útero/metabolismo , Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Teste de Papanicolaou , Infecções por Papillomavirus/metabolismo , Remissão Espontânea , Estudos Retrospectivos , Índice de Gravidade de Doença , Neoplasias do Colo do Útero/patologia , Neoplasias do Colo do Útero/virologia , Esfregaço Vaginal , Displasia do Colo do Útero/patologia , Displasia do Colo do Útero/virologiaRESUMO
OBJECTIVE: It was the aim of this study to evaluate the significance of reporting hyperkeratosis in cervical smears. STUDY DESIGN: Cervicovaginal smears with low-grade (LSIL) and high-grade squamous intraepithelial lesions (HSIL), prepared from 2004 to 2007, were retrospectively reviewed. Anucleated squamous cells were counted. The smears were classified into two groups, based on the presence of <2 or ≥2 clusters of anucleated cells, and then compared. RESULTS: Sixty Pap smears showing SILs (34 LSILs and 26 HSILs) as well as 120 random satisfactory smears without squamous or glandular abnormalities were selected. A statistically significant difference was found between the SIL group and the control group regarding the mean number of hyperkeratotic clusters (2.8 in the SIL and 1.9 in the control group; p = 0.012). Moreover, the mean number of hyperkeratotic clusters (3.3 in the LSIL and 2.2 in the HSIL group) had a statistically significant correlation with the diagnosis of the lesion as LSIL or HSIL (p = 0.0006). CONCLUSION: Our findings suggest that hyperkeratosis in the form of ≥2 clusters of anucleated squamous cells could be an indicator of underlying LSIL.
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Queratinas , Teste de Papanicolaou , Displasia do Colo do Útero/patologia , Neoplasias do Colo do Útero/patologia , Esfregaço Vaginal , Adulto , Feminino , Humanos , Estudos RetrospectivosRESUMO
BACKGROUND: The goal of this study was to evaluate the results of the expression of p16INK4a in normal uterine cervical epithelium, low-grade cervical intraepithelial neoplasia (CIN), high-grade CIN, squamous cell carcinoma (SCC), and adenocarcinoma of the cervix, in order to help draw a distinction between low risk and high risk patients with cervical lesions. MATERIALS AND METHODS: [corrected] P16INK4a expression was evaluated by immunohistochemistry in 78 paraffin-embedded tissue samples including 39 normal cervical tissues, 11 low-grade CINs, 11 high-grade CINs, 22 cervical SCCs and 8 cervical adenocarcinomas. Two parameters in immunohistochemical p16 expression were evaluated: percentage of p16-positive cells, and reaction intensity. RESULTS: The p16INK4a expression rate was 81.8% in low-grade CINs, 91% in high-grade CINs, 90% in SCCs and 75% in cervical adenocarcinomas. 10% of normal cervical samples expressed p16. Moreover, there was a significant relationship between the histological diagnoses and percentage of positive cells and reaction intensity of p16 (p < 0.005). The intensity of the reaction was the best parameter to evaluate the positivity of p16. CONCLUSIONS: Over-expression of the p16INK4a was typical for dysplastic and neoplastic epithelia of the uterine cervix. However, p16INK4a-negative CINs and carcinomas did exist. Although negative p16INK4a expression does not definitely exclude the patient with cervical lesion from the high-risk group, immunohistochemical study for p16INK4a may be used as a supplementary test for an early diagnosis of cervical cancers.
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PURPOSE: The purpose of this study was to evaluate the results of immunohistochemical expression of p57KIP2 in the complete hydatidiform mole (CHM) and other types of hydropic pregnancy. BACKGROUND: Classification of molar pregnancies is typically defined by histologic and genetic criteria. The histologic criteria are subjective and demonstrate considerable interobserver variability. Several studies have recently shown that immunohistochemical detection of p57KIP2 expression in molar pregnancies is a useful ancillary diagnostic tool. The p57KIP2 gene is strongly paternally imprinted and maternally expressed. The villous cytotrophoblastic cells of complete hydatidiform mole (CHM) lack the maternal genome, that's why they reveal negative immunostaining for p57KIP2. On the contrary, in villous cytotrophoblastic cells of partial hydatidiform mole (PHM) and hydropic abortion, immunohistochemical staining for this marker is positive. METHODS: We performed p57KIP2 immunohistochemical staining in 89 cases in four histological diagnostic categories as follows: "CHM" (n = 22), "PHM" (n = 32), "hydatidiform mole (HM)" (where the histological features were insufficient to differentiate between CHM and PHM) (n = 20), and "suggestive for PHM" (n = 15). RESULTS: p57KIP2 expression in villous cytotrophoblasts and stromal cells was absent or markedly reduced in 22 of 22 "CHMs", 7 of 32 "PHMs", 15 of 20 "HMs", and 1 of 15 "suggestive for PHMs" (P < 0.001). In all cases, maternal decidua and syncytiotrophoblast, respectively, showed diffuse and strong p57KIP2 expression, and negative p57KIP2 expression. CONCLUSIONS: This study confirms that negative p57KIP22 immunostaining may reliably identify CHM irrespective of gestational age and can be used in association with the histological findings to distinguish CHM from its mimics in challenging cases.
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Inibidor de Quinase Dependente de Ciclina p57/metabolismo , Mola Hidatiforme/diagnóstico , Animais , Biomarcadores/metabolismo , Diagnóstico Diferencial , Feminino , Humanos , Mola Hidatiforme/metabolismo , Imuno-Histoquímica , Camundongos , GravidezRESUMO
OBJECTIVE: Recurrent pregnancy loss (RPL) is a common infertility-related complication that affects approximately 1-3 % of women worldwide. Known causes of etiology are found in approximately half the cases but the other half remain unexplained. It is estimated that several thousands of genes contribute to reproductive success in mammals and the genetic causes of RPL cannot be fully addressed through targeted genetic tests. In recent years, massive parallel sequencing technologies has helped discovering many causal mutations in hereditary diseases such as RPL. STUDY DESIGN: Using whole-exome sequencing (WES), we studied a large multiplex consanguineous family with multiple cases of RPL and hydatidiform moles (HM). In addition, targeted Sanger sequencing was applied to 40 additional non-related individuals with RPL. RESULTS: The use of WES permitted to identify the pathogenic variant in KHDC3L (c.322_325delGACT) in related who experienced RPL with or without HM. Sanger sequencing confirmed the segregation of the mutation throughout the pedigree and permitted to establish this variant as the genetic cause responsible for RPL and HM in this family. CONCLUSION: KHDC3L is well established as a susceptibility gene for HM but we confirmed here that KHDC3L deleterious variants can also induce RPL. In addition, we observed a genotype-phenotype correlation, demonstrating that women with a truncating KHDC3L homozygous variant could not sustain a pregnancy and often had pregnancy losses mainly due to HM while those with the same heterozygous variant could have children but often endured RPL with no HM.
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Aborto Habitual , Mola Hidatiforme , Aborto Habitual/genética , Proteínas Adaptadoras de Transdução de Sinal/genética , Criança , Feminino , Humanos , Mola Hidatiforme/genética , Mutação , Linhagem , Gravidez , ProteínasRESUMO
INTRODUCTION: Human papillomavirus (HPV) infection is one of the major health concerns of women in developing countries. This study gives an insight into the prevalence and genotype distribution of HPV infection and compares it with Pap smear results among Iranian women. METHODS: In this study, 12 076 Iranian women underwent routine examination from November 2016 to November 2018 using HPV Direct Flow CHIP System for HPV DNA typing. Cytology was undertaken for 5138 samples. RESULTS: Overall HPV prevalence was calculated at 38.68%. The most frequent HPV types were HPV 6, 16, 11, 62/81, 52 and 54. The most high-risk HPV (HR-HPV) types were HPV 16, 52, 18, 39, 31 and 51. These 2 groups represent approximately half of all HPV types detected, 47% and 55%, respectively. Among individuals who underwent cytological tests, 135 individuals (2.63%) were cytologically positive. In this group, 81 individuals (60%) were HPV positive, 62 (76%) of whom were HR-HPV positive, most frequently with HPV 16 (34%). CONCLUSION: This study highlights the urgent need for public education and early diagnosis using HPV screening tests to prevent cervical cancer.
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Infecções por Papillomavirus , Neoplasias do Colo do Útero , Colo do Útero , DNA Viral/genética , Feminino , Genótipo , Humanos , Irã (Geográfico)/epidemiologia , Papillomaviridae/genética , Infecções por Papillomavirus/diagnóstico , Infecções por Papillomavirus/epidemiologia , Prevalência , Neoplasias do Colo do Útero/epidemiologiaRESUMO
PURPOSE OF REVIEW: Histological diagnosis of well differentiated endometrioid adenocarcinoma (WDA) has been challenging over the years. Considering the impact of this diagnosis on treatment and follow-up of the patient, in this review, we have discussed and evaluated the most useful of the proposed histological criteria for diagnosis of WDA and its distinction from mimic lesions. RECENT FINDINGS: Diagnostic criteria for WDA are proposed regarding histologic features predicting the presence of myometrial or endometrial stromal invasion by proliferating glands, or aggressive behavior. SUMMARY: Most useful diagnostic histological features in WDA, such as cribriform, labyrinthine, and confluent glandular patterns, and stromal desmoplasia are highlighted. Presence of these features differentiates WDA from mimics and justifies aggressive treatment.
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Carcinoma Endometrioide/patologia , Neoplasias do Endométrio/patologia , Feminino , Humanos , Invasividade NeoplásicaRESUMO
AIM: The objective of this study was to compare the histological findings of dilatation and curettage (D&C) with those on subsequent hysterectomy in patients with abnormal uterine bleeding. METHODS: Between October 1998 and September 2003 a retrospective clinical study of 311 patients was conducted, including all patients who underwent D&C and within 2 months, hysterectomy because of histological findings on D&C or persistence of symptoms. The sensitivity, specificity, positive and negative predictive value and accuracy of D&C were studied. RESULTS: The mean age of our patients was 46.6 years. In 164 of 311 patients (52.7%), D&C failed to detect intrauterine disorders subsequently found at hysterectomy. The sensitivity was 30.2%, the specificity was 72.3%, the positive predictive value was 77.1%, and the negative predictive value was 25.1%. The accuracy was 40.5% overall. CONCLUSION: D&C is an inadequate diagnostic tool for uterine focal lesions, but the accuracy of D&C in the detection of endometrial hyperplasia and carcinoma is relatively high (92.1%).
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Dilatação e Curetagem , Hiperplasia Endometrial/diagnóstico , Neoplasias do Endométrio/diagnóstico , Hemorragia Uterina/diagnóstico , Útero/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Histerectomia , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
BACKGROUND & OBJECTIVE: Clear cell carcinomas (CCC) differ from other types of ovarian and endometrial carcinomas in biology, behavior and response to chemotherapy. Histopathologic diagnosis may be challenging in some situations which necessitates immunohistochemistary (IHC) assessment. In this study we investigated the diagnostic utility of Napsin-A in diagnosis of ovarian and endometrial CCCs. METHODS: Ovarian and endometrial CCC samples from 2013 to 2018 in 3 general and women's hospital in Tehran were re-evaluated by 2 expert pathologists. Forty-two samples were included as case and 42 non-clear cell carcinomas (Non-CCC) of ovary and endometrium were selected as control group. Based on IHC study tumors with sum intensity and percentage score ≥2 (at least 1+ staining in more than 1% of tumor cells) were considered positive. RESULTS: The prevalence of endometrial and ovarian CCC in the case group were 15 and 27 respectively. The tumors in the control group included 22 cases of endometrioid, 2 high grade papillary serous carcinoma (HGSC) of endometrium, 6 endometrioid and 12 HGSC of ovary. Napsin-A positivity was observed in 35 (83%) of CCCs while 7 (17%) samples including 3 out of 15 endometrial and 4 out of 27 ovarian CCCs were Napsin-A negative. No positive reaction was seen in control group. The overall accuracy, specifity and sensitivity of Napsin-A for diagnosis of ovarian and endometrial CCCs were 83%, 100% and 83%, respectively. Sensitivity for ovarian and endometrial CCCs were 85% and 80%, orderly. CONCLUSION: Napsin-A is an accurate and reliable marker for distinction of CCCs from non-CCCs in ovary and endometrium. A panel of antibodies may yield the highest diagnostic accuracy.