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The British Journal of Radiology Feb 2022Brenner tumors are rare ovarian neoplasms composed of ovarian transition cells surrounded by dense fibrous tissue. Most of them are small tumors (<2 cm), detected...
Brenner tumors are rare ovarian neoplasms composed of ovarian transition cells surrounded by dense fibrous tissue. Most of them are small tumors (<2 cm), detected incidentally in asymptomatic women. Its predominantly fibrous content results in relatively low signal on weighted images, establishing differential diagnosis with ovarian fibroma and thecoma. Their imaging features are very similar, the differentiation is based on secondary characteristics, such as signs or symptoms of estrogen excess and the presence of a second ovarian neoplasm, which has been reported in up to 30% of patients with Brenner tumor. Although originally thought to be universally benign, there have been scattered reports in the past decades of borderline and malignant forms of Brenner tumors.
Topics: Brenner Tumor; Cystadenofibroma; Diagnosis, Differential; Female; Fibroma; Humans; Leiomyoma; Magnetic Resonance Imaging; Ovarian Neoplasms; Rare Diseases; Thecoma; Tomography, X-Ray Computed; Ultrasonography
PubMed: 34928171
DOI: 10.1259/bjr.20210687 -
Molecular Genetics & Genomic Medicine Sep 2022Ovarian sex cord-stromal tumors (OSCTs) are rare ovarian tumors that can develop from sex cord, stromal cells, or both. OSCTs can be benign or malignant. Bilateral...
BACKGROUND
Ovarian sex cord-stromal tumors (OSCTs) are rare ovarian tumors that can develop from sex cord, stromal cells, or both. OSCTs can be benign or malignant. Bilateral and/or unilateral ovarian fibromas, a type of OSCT of the stromal cells, have been reported in individuals diagnosed with nevoid basal cell carcinoma syndrome (NBCCS). Calcified ovarian fibromas have been reported in 15-25% of individuals diagnosed with NBCCS while 75% of those cases occur bilaterally. The average age at diagnosis of OSCT/ovarian fibromas in patients with NBCSS is in the second to third decade compared with age 50 in the general population. Ovarian tumors are rare in pediatric populations.
METHODS
The patient is a 5-year-old female diagnosed with bilateral ovarian fibromas at age 4. Multigene panel for the patient and subsequent targeted molecular evaluation of parents were completed. Histological evaluations on the surgically resected ovaries were performed for microscopic characterization of fibromas.
RESULTS
Germline testing identified de novo heterozygous novel likely pathogenic variants in PTCH1 gene, exon 12 deletion, and an SMARCA4 splicing variant c.2002-1G > A. Microscopic examination of bilateral tumors was consistent with an ovarian fibroma.
CONCLUSIONS
To our knowledge, this is the first report of bilateral benign ovarian fibroma in a child with a diagnosis of nevoid basal cell carcinoma syndrome (NBCCS) with a potential predisposition to Rhabdoid Tumor Predisposition Syndrome (RTPS).
Topics: Basal Cell Nevus Syndrome; Child; Child, Preschool; DNA Helicases; Female; Fibroma; Germ Cells; Humans; Middle Aged; Nuclear Proteins; Ovarian Neoplasms; Transcription Factors
PubMed: 35775118
DOI: 10.1002/mgg3.2005 -
Diagnostic Pathology Oct 2023Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as... (Review)
Review
BACKGROUND
Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as basal cell carcinomas, keratocystic odontogenic tumors and skeletal abnormalities. Bilateral and/or unilateral ovarian fibromas have been reported in individuals diagnosed with NBCCS.
CASE PRESENTATION
A 22-year-old female, presented with low back pain, and was found to have bilateral giant adnexal masses on pelvic ultrasonography, which had been suspected to be malignant ovarian tumors. Positron emission tomography/computed tomography showed multiple intracranial calcification and skeletal abnormalities. The left adnexa and right ovarian tumor were resected with laparotomy, and pathology revealed bilateral ovarian fibromas with marked calcification. We recommended the patient to receive genetic testing and dermatological examination. No skin lesion was detected. Germline testing identified pathogenic heterozygous mutation in PTCH1 (Patched1).
CONCLUSIONS
The possibility of NBCCS needs to be considered in patients with ovarian fibromas diagnosed in an early age. Skin lesions are not necessary for the diagnosis of NBCCS. Ovarian fibromas are managed with surgical excision with an attempt at preserving ovarian function. Follow-up regime and counseling on options for future fertility should be offered to patients.
Topics: Female; Humans; Young Adult; Adult; Basal Cell Nevus Syndrome; Fibroma; Ovarian Neoplasms; Odontogenic Cysts
PubMed: 37907964
DOI: 10.1186/s13000-023-01406-9 -
Medicine Aug 2018Ovarian fibroma/fibrothecoma with elevated serum OC125 antigen (CA125) is rarely encountered in clinical practice, and also easily misdiagnosed as epithelial ovarian...
Ovarian fibroma/fibrothecoma with elevated serum OC125 antigen (CA125) is rarely encountered in clinical practice, and also easily misdiagnosed as epithelial ovarian carcinoma (EOC). The aim of this study was to investigate the clinicopathological features of ovarian fibroma/fibrothecoma with elevated serum CA125.In total, 580 patients who underwent primary surgery and pathologically diagnosed as ovarian fibroma/fibrothecoma were retrospectively analyzed. The clinicopathological parameters were collected and compared between the patients with elevated serum CA125 (>35 U/mL) and without. The immunoreactivity for CA125 in ovarian fibroma/fibrothecoma and epithelial cancer tissues was detected and compared by immunohistochemistry. Univariate and multivariate analyses were performed to identify factors associated with elevated serum CA125 level. The correlation between the immunoreactivity of CA125 in tissue and serum CA125 level was examined by Pearson correlation analysis.Elevated serum CA125 level (range 36.7-1848 u/m) was found in 66 of 580 (11.3%) ovarian fibroma/fibrothecoma patients. Univariate analysis showed that the elevated serum CA125 level was significantly correlated with tumor diameter ≥10 cm (P < .001), ascites (P < .001), and hydrothorax (P < .001). Multivariate analysis revealed that tumor diameter ≥10 cm and ascites were independently associated factors (P < .001 and < .001 respectively). Immunohistochemical staining showed that the expression of CA125 was negative in all fibroma/fibrothecoma tissues, but positive in all EOC tissues, and the immunoreactivity for CA125 was positively correlated with serum CA125 level in the EOC patients (P = .005).The elevated serum CA125 level in ovarian fibroma/fibrothecoma is nontumor originated and occurs more frequently in those with larger size tumor or Meigs syndrome.
Topics: Adult; Aged; CA-125 Antigen; Carcinoma, Ovarian Epithelial; Diagnosis, Differential; Female; Fibroma; Humans; Membrane Proteins; Middle Aged; Neoplasms, Glandular and Epithelial; Ovarian Neoplasms; Retrospective Studies; Tumor Burden; Young Adult
PubMed: 30142807
DOI: 10.1097/MD.0000000000011926 -
Journal of Ovarian Research May 2022To evaluate the diagnostic utility of conventional magnetic resonance imaging (MRI)-based characteristics and a texture analysis (TA) for discriminating between ovarian...
OBJECTIVE
To evaluate the diagnostic utility of conventional magnetic resonance imaging (MRI)-based characteristics and a texture analysis (TA) for discriminating between ovarian thecoma-fibroma groups (OTFGs) and ovarian granulosa cell tumors (OGCTs).
METHODS
This retrospective multicenter study enrolled 52 patients with 32 OGCTs and 21 OTFGs, which were dissected and pathologically diagnosed between January 2008 and December 2019. MRI-based features (MBFs) and texture features (TFs) were evaluated and compared between OTFGs and OGCTs. A least absolute shrinkage and selection operator (LASSO) regression analysis was performed to select features and construct the discriminating model. ROC analyses were conducted on MBFs, TFs, and their combination to discriminate between the two diseases.
RESULTS
We selected 3 features with the highest absolute value of the LASSO regression coefficient for each model: the apparent diffusion coefficient (ADC), peripheral cystic area, and contrast enhancement in the venous phase (VCE) for the MRI-based model; the 10th percentile, difference variance, and maximal correlation coefficient for the TA-based model; and ADC, VCE, and the difference variance for the combination model. The areas under the curves of the constructed models were 0.938, 0.817, and 0.941, respectively. The diagnostic performance of the MRI-based and combination models was similar (p = 0.38), but significantly better than that of the TA-based model (p < 0.05).
CONCLUSIONS
The conventional MRI-based analysis has potential as a method to differentiate OTFGs from OGCTs. TA did not appear to be of any additional benefit. Further studies are needed on the use of these methods for a preoperative differential diagnosis of these two diseases.
Topics: Female; Fibroma; Granulosa Cell Tumor; Humans; Magnetic Resonance Imaging; Ovarian Neoplasms; ROC Curve; Retrospective Studies; Thecoma
PubMed: 35610706
DOI: 10.1186/s13048-022-00989-z -
Zhongguo Yi Xue Ke Xue Yuan Xue Bao.... Aug 2015To summarize the computed tomography (CT) and magnetic resonance imaging (MRI) characteristics of ovarian fibro the coma and to compare them with the pathological...
OBJECTIVE
To summarize the computed tomography (CT) and magnetic resonance imaging (MRI) characteristics of ovarian fibro the coma and to compare them with the pathological findings.
METHOD
CT and MRI features of 25 patients with pathologically proved ovarian fibrothecoma were retrospectively analyzed.
RESULTS
Of these 25 patients,the tumors were single in 23 patients and bilateral in 2 patients. The tumors were round or oval in 16 cases and lobulated in 11 cases. CT plate scanning showed that both the solid masses and the solid components of the cystic and solid masses had slightly lower densities than that of the myometrium, and gradual and mild enhancement could be found in the arterial phase and delay phase after enhanced scan. MRI showed iso-low signal on T1-weighted imaging, slightly low or high signal on T2-weighted imaging of fat suppression sequences, slightly high signal on diffusion weighted imaging and the enhance characteristics as the well as CT after enhanced scan.Pelvic cavity effusion was seen in 3 cases.
CONCLUSION
Ovarian fibrothecoma have certain imaging characteristics,which are helpful to improve the diagnosis and differential diagnosis of this disease and lower the misdiagnosis rate before operation.
Topics: Diagnosis, Differential; Diffusion Magnetic Resonance Imaging; Female; Fibroma; Humans; Magnetic Resonance Imaging; Ovarian Neoplasms; Pelvis; Retrospective Studies; Tomography, X-Ray Computed
PubMed: 26564451
DOI: 10.3881/j.issn.1000-503X.2015.04.002 -
Abdominal Imaging Jun 2015To retrospectively evaluate the conventional and functional (diffusion- or perfusion-weighted) magnetic resonance (MR) imaging features of ovarian fibroma, fibrothecoma,...
OBJECTIVE
To retrospectively evaluate the conventional and functional (diffusion- or perfusion-weighted) magnetic resonance (MR) imaging features of ovarian fibroma, fibrothecoma, and thecoma.
MATERIALS AND METHODS
Histologically proven ovarian fibromas (n = 19), fibrothecomas (n = 7), and thecomas (n = 2) were reviewed (26 patients). The morphologic and signal intensity (SI) characteristics on conventional MR imaging (n = 28, all cases) were analyzed. The b 1000 signal intensity on diffusion-weighted image (DWI) (n = 22) and the time-to-signal intensity curve on perfusion-weighted image (PWI) (n = 7) were also analyzed. The presence and shape of the ipsilateral ovarian tissue surrounding the lesions were evaluated on T2-weighted image.
RESULTS
Twenty-two cases (79%) were predominantly solid tumor. Majority of the detected lesions exhibited the characteristic homogeneous low SI on T1- (24/28, 86%) and T2- (19/28, 68%) weighted image. Conversely, a number of lesions exhibited high SI (9/28, 32%) on T2-weighted image. Most lesions presented with a detectable ipsilateral ovary on T2-weighted image (24/28, 86%). Tumors larger than 6 cm more likely showed atypical morphology (mixed solid and cystic, cystic), atypical SI (high on T1- and T2-weighted image), and large amount ascites. Larger tumor group (>6 cm) was more likely diagnosed as fibrothecoma or thecoma than fibroma by pathology. On DWI, 16 lesions showed low b 1000 signal intensity (16/22, 73%). On PWI, all lesions showed curve type 1 or 2 (7/7, 100%), which tends to characterize benign lesions. All (16/16, 100%) pre-menopausal women had a detectable ipsilateral ovary, and six (60%) out of 10 post-menopausal women had a detectable ipsilateral ovary (p < 0.05).
CONCLUSIONS
Combining conventional morphologic and signal intensity characteristics with the findings from DWI or PWI might help differentiate ovarian fibroma, fibrothecoma, and thecoma from ovarian malignancy, although further prospective larger scale study using DWI and PWI is needed.
Topics: Adult; Female; Fibroma; Humans; Magnetic Resonance Imaging; Middle Aged; Ovarian Neoplasms; Thecoma
PubMed: 25273949
DOI: 10.1007/s00261-014-0257-z -
European Journal of Obstetrics,... Feb 2015To evaluate the recurrence rate of ovarian fibroma/fibrothecoma and reproductive outcomes following ovarian-sparing local mass excision in premenopausal women.
OBJECTIVES
To evaluate the recurrence rate of ovarian fibroma/fibrothecoma and reproductive outcomes following ovarian-sparing local mass excision in premenopausal women.
STUDY DESIGN
A retrospective cohort study was performed at two gynecologic surgery centers using data collected between January 2005 and December 2011. It included premenopausal patients treated with ovarian-sparing local mass excision and pathologically proven ovarian fibroma/fibrothecoma who were followed up for at least 6 months. The recurrence of fibroma/fibrothecoma and pregnancy outcomes in those who wanted to conceive after local mass excision were collected and analyzed.
RESULTS
The mean age of the patients (n=50) was 33.3±6.9 years (range, 20-50 years), and the mean follow-up duration was 26.6±19.2 months (range, 6-88 months). Fibroma was present in 40 patients, fibrothecoma in 7, and cellular fibroma in 3. Natural conception occurred in 11 of the 12 patients who became pregnant during the follow-up period. On follow-up ultrasonography, one patient experienced recurrent disease, 50 months after initial surgery, resulting in a crude overall recurrence rate of only 2%.
CONCLUSION
Given the 2% recurrence rate of ovarian fibroma/fibrothecoma following ovarian sparing local mass excision, local mass excision appears to be an effective surgical option in women of reproductive age.
Topics: Adult; Female; Fibroma; Humans; Middle Aged; Neoplasm Recurrence, Local; Organ Sparing Treatments; Ovarian Neoplasms; Postoperative Complications; Pregnancy; Pregnancy Rate; Premenopause; Republic of Korea; Retrospective Studies; Young Adult
PubMed: 25528734
DOI: 10.1016/j.ejogrb.2014.11.042 -
Journal of Clinical Oncology : Official... Jul 2022Gorlin syndrome (GS) is a rare genetic disorder characterized by lifetime risk of basal cell carcinomas (BCCs), skeletal anomalies (SAs), and other extracutaneous...
PURPOSE
Gorlin syndrome (GS) is a rare genetic disorder characterized by lifetime risk of basal cell carcinomas (BCCs), skeletal anomalies (SAs), and other extracutaneous neoplasms. There is great variation in disease severity, and a genotype-phenotype correlation has not been well established. Here, we investigate whether patients' clinical characteristics predict disease severity to inform clinical decision making.
METHODS
Data of 248 patients with GS were collected between 2014 and 2021 from three institutions. Multivariable regression analyses were performed to investigate whether clinical characteristics predicted disease burden. Genotype-phenotype correlations were investigated in 40 patients.
RESULTS
Patients with SAs had a mean increase of 120 lifetime BCCs (95% CI, 27.1 to 213) relative to patients without SAs. Those with ≥ 2 SAs had 2.45 increased odds (95% CI, 1.01 to 5.91) of advanced or metastatic BCCs. Moreover, the presence of multiple SAs was associated with 5.00 increased odds of having a keratocystic odontogenic tumor (95% CI, 2.22 to 11.3) and 2.79 increased odds of an ovarian fibroma (95% CI, 1.05 to 7.40). Genotype-phenotype analyses showed that missense/in-frame mutations were more likely to be hereditary compared with severe deleterious mutation types (100% 27%; = .004). In addition, heat map visualization illustrated that those with more deleterious variants, like large deletions, trended toward increased burden of SAs and BCCs per year.
CONCLUSION
GS patients with SAs may be at greater risk for developing more numerous and severe BCCs and other neoplastic growths including keratocystic odontogenic tumors and ovarian fibromas. Current clinical guidelines suggest yearly follow-up in individuals with GS. Since SAs are usually recognized at the time of diagnosis, our results suggest that more vigilant lifetime multidisciplinary surveillance should be considered for these patients starting in childhood.
Topics: Basal Cell Nevus Syndrome; Carcinoma, Basal Cell; Fibroma; Genetic Association Studies; Humans; Ovarian Neoplasms; Risk Factors; Severity of Illness Index; Skin Neoplasms
PubMed: 35333541
DOI: 10.1200/JCO.21.02385 -
Journal of Cancer Research and... 2023Surface epithelial neoplasms are the most common ovarian tumors, constituting around 60% of all ovarian malignancies. They are classified as benign, borderline, and...
Surface epithelial neoplasms are the most common ovarian tumors, constituting around 60% of all ovarian malignancies. They are classified as benign, borderline, and malignant. Ovarian cystadenomas are common benign epithelial neoplasms which carry an excellent prognosis. Ovarian thecoma-fibroma groups are uncommon sex cord-stromal neoplasms, constituting 1.0%-4.0% of all ovarian tumors. Most of them are benign and often found in postmenopausal patients. Combination tumors in the ovary are known. The most common combination is mucinous cystadenoma which occurs in association with Brenner tumor, mature cystic teratoma, Sertoli-Leydig cell tumor, or even a serous cystadenoma. A combination of surface epithelial and thecoma-fibroma group is very rarely encountered. A case of one such combination of serous cystadenoma and fibroma of the ovary is being presented here in a postmenopausal woman.
Topics: Female; Humans; Thecoma; Cystadenoma, Serous; Ovarian Neoplasms; Cystadenoma, Mucinous; Sex Cord-Gonadal Stromal Tumors; Fibroma; Cystadenoma
PubMed: 37787335
DOI: 10.4103/jcrt.jcrt_2319_21