ABSTRACT
A close relationship has been demonstrated between genomic complexity and clinical outcome in uterine smooth muscle tumors. We studied the genomic profiles by array-CGH of 28 fumarate hydratase deficient leiomyomas and 37 leiomyomas with bizarre nuclei (LMBN) from 64 patients. Follow-up was available for 46 patients (from three to 249 months, mean 87.3 months). All patients were alive without evidence of disease. For 51 array-CGH interpretable tumors the mean Genomic Index (GI) was 16.4 (median: 9.8; from 1 to 57.8), significantly lower than the mean GI in LMS (mean GI 51.8, p < 0.001). We described three groups: (1) a group with FH deletion (24/58) with low GI (mean GI: 11 vs. 22,4, p = 0.02), (2) a group with TP53 deletion (17/58) with higher GI (22.4 vs. 11 p = 0.02), and (3) a group without genomic events on FH or TP53 genes (17/58) (mean GI:18.3; from 1 to 57.8). Because none of these tumors recurred and none showed morphological features of LMS we concluded that GI at the cut-off of 10 was not applicable in these subtypes of LM. By integration of all those findings, a GI <10 in LMBN remains a valuable argument for benignity. Conversely, in LMBN a GI >10 or alteration in tumor suppressor genes, should not alone warrant a diagnosis of malignancy. Nine tumors were tested with Nanocind CINSARC® signature and all were classified in low risk of recurrence. We propose, based on our observations, a diagnostic approach of these challenging lesions.
Subject(s)
Leiomyoma , Uterine Neoplasms , Female , Humans , Uterine Neoplasms/genetics , Uterine Neoplasms/pathology , Fumarate Hydratase/genetics , Leiomyoma/genetics , Leiomyoma/pathology , Genes, p53 , GenomicsABSTRACT
BACKGROUND: Ovarian pseudomyxoma peritonei (OPMP) are rare, without well-defined therapeutic guidelines. We aimed to evaluate cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) to treat OPMP. METHODS: Patients from the French National Network for Rare Peritoneal Tumors (RENAPE) database with proven OPMP treated by CRS/HIPEC and with histologically normal appendix and digestive endoscopy were retrospectively included. Clinical and follow-up data were collected. Histopathological and immunohistochemical features were reviewed. RESULTS: Fifteen patients with a median age of 56 years were included. The median Peritoneal Cancer Index was 16. Following CRS, the completeness of cytoreduction (CC) score was CC-0 for 9/15 (60%) patients, CC-1 for 5/15 (33.3%) patients, and CC-2 for 1/15 (6.7%) patients. The median tumor size was 22.5 cm. After pathological review and immunohistochemical studies, tumors were classified as Group 1 (mucinous ovarian epithelial neoplasms) in 3/15 (20%) patients; Group 2 (mucinous neoplasm in ovarian teratoma) in 4/15 (26.7%) patients; Group 3 (mucinous neoplasm probably arising in ovarian teratoma) in 5/15 (33.3%) patients; and Group 4 (non-specific group) in 3/15 (20%) patients. Peritoneal lesions were OPMP pM1a/acellular, pM1b/grade 1 (hypocellular) and pM1b/grade 3 (signet-ring cells) in 13/15 (86.7%), 1/15 (6.7%) and 1/15 (6.7%) patients, respectively. Disease-free survival analysis showed a difference (p = 0.0463) between OPMP with teratoma/likely-teratoma origin (groups 2 and 3; 100% at 1, 5, and 10 years), and other groups (groups 1 and 4; 100%, 66.6%, and 50% at 1, 5, and 10 years, respectively). CONCLUSION: These results suggested that a primary therapeutic strategy using complete CRS/HIPEC for patients with OPMP led to favorable long-term outcomes.
Subject(s)
Appendiceal Neoplasms , Hyperthermia, Induced , Neoplasms, Cystic, Mucinous, and Serous , Pseudomyxoma Peritonei , Teratoma , Female , Humans , Middle Aged , Pseudomyxoma Peritonei/pathology , Hyperthermic Intraperitoneal Chemotherapy , Cytoreduction Surgical Procedures/methods , Retrospective Studies , Hyperthermia, Induced/methods , Appendiceal Neoplasms/therapy , Appendiceal Neoplasms/pathology , Combined Modality Therapy , Survival RateABSTRACT
OBJECTIVES: Low grade serous ovarian carcinoma (LGSOC) accounts for 2.5% of all ovarian carcinoma more affects younger women than high grade serous ovarian carcinoma. Hysterectomy is performed routinely for LGSOC treatment, but fertility sparring surgery (FSS) is feasible for some early stages. Currently, there is no study about uterine involvement in LGSOC. We evaluate uterine involvement in LGSOC patients and aim to identify pre-operative predictive factors. METHODS: Retrospective observational study of LGSOC patients treated between January 2000 and May 2022 in the Hospices Civils de Lyon. All cases were viewed, reviewed or approved by an expert pathologist. RESULTS: Among 535 serous ovarian carcinomas, 26 were included. Most patients (73 %) had FIGO III disease. Median OS was 115 months and median PFS was 42 months. Uterine involvement was found in 58 % patients who underwent hysterectomy (14/24), serosal involvement was the most frequent type of involvement (n = 13, 54 %). Myometrial involvement was found in 8 patients (33 %) and was associated with serosal involvement (7/8). Among patients with a macroscopic disease-free uterus during exploratory laparoscopy, 31 % had a microscopic serosal involvement. None patient with presumed early stage (FIGO I) were upstaged due to uterine involvement (serosal or myometrial). In patients with stage FIGO IIII, 72 % of uterine involvement were found. Univariate analysis did not show any predictive factor of myometrial involvement. There was no difference on OS nor PFS between patients with or without myometrial involvement. CONCLUSIONS: In early stages LGSOC, FSS may be considered for selected patients. In advanced stages, hysterectomy should be performed routinely, since no predictive factor for uterine involvement were identified.
Subject(s)
Cystadenocarcinoma, Serous , Ovarian Neoplasms , Humans , Female , Retrospective Studies , Ovarian Neoplasms/surgery , Ovarian Neoplasms/pathology , Carcinoma, Ovarian Epithelial/pathology , Uterus/surgery , Uterus/pathology , Cystadenocarcinoma, Serous/surgery , Cystadenocarcinoma, Serous/pathology , Neoplasm StagingABSTRACT
Endometriosis is a chronic and disabling gynecological disease that affects women of reproductive age. Magnetic resonance imaging (MRI) is considered the cornerstone radiological technique for both the diagnosis and management of endometriosis. While MRI offers higher sensitivity compared to ultrasonography, it is prone to false-positive results, leading to decreased specificity. False-positive findings can arise from various T1-hyperintense conditions on fat-suppressed T1-weighted images, resembling endometriotic cystic lesions in different anatomical compartments. These conditions include hemorrhage, hyperproteic content, MRI artifacts, feces, or melanin. Such false positives can have significant implications for patient care, ranging from incorrect diagnoses to unnecessary medical or surgical interventions and subsequent follow-up. To address these challenges, this educational review aims to provide radiologists with comprehensive knowledge about MRI criteria, potential pitfalls, and differential diagnoses, ultimately reducing false-positive results related to T1-hyperintense abnormalities.Critical relevance statementMRI has a 10% false-positive rate, leading to misdiagnosis. T1-hyperintense lesions, observed in the three phenotypes of pelvic endometriosis, can also be seen in various other causes, mainly caused by hemorrhages, high protein concentrations, and artifacts.Key points⢠MRI in endometriosis has a 10% false-positive rate, leading to potential misdiagnosis.⢠Pelvic endometriosis lesions can exhibit T1-hyperintensity across their three phenotypes.⢠A definitive diagnosis of a T1-hyperintense endometriotic lesion is crucial for patient management.⢠Hemorrhages, high protein concentrations, lipids, and artifacts are the main sources of T1-hyperintense mimickers.
ABSTRACT
Ovarian sex cord-stromal tumors (SCSTs) account for 8% of all primary ovarian neo-plasms. Accurate diagnosis is crucial since each subtype has a specific prognostic and treatment. Apart from fibrosarcomas, stromal tumors are benign while sex cord tumors may recur, sometimes with a significant time to relapse. Although the diagnosis based on morphology is straightforward, in some cases the distinction between stromal tumors and sex cord tumors may be tricky. Indeed, the immunophenotype is usually nonspecific between stromal tumors and sex cord tumors. Therefore, molecular pathology plays an important role in the diagnosis of such entities, with pathognomonic or recurrent alterations, such as FOXL2 variants in adult granulosa cell tumors. In addition, these neoplasms may be associated with genetic syndromes, such as Peutz-Jeghers syndrome for sex cord tumors with annular tubules, and DICER1 syndrome for Sertoli-Leydig cell tumors (SLCTs), for which the pathologist may be in the front line of syndromic suspicion. Molecular pathology of SCST is also relevant for patient prognosis and management. For instance, the DICER1 variant is associated with moderately to poorly differentiated SLCTS and a poorer prognosis. The present review summarizes the histomolecular criteria useful for the diagnosis of SCST, using recent molecular data from the literature.