International Journal of Gynecological Pathology最新文献

This study aims to investigate the expression pattern of human chorionic gonadotropin (hCG) in the tissue of endometrioid type endometrial cancer (EEC) using immunohistochemistry, and also to investigate the effect of hCG expression pattern on prognosis and survival in EEC. We evaluated patients who were operated between 2010 and 2020 in the obstetrics and gynecology clinic of our center due to EEC. In total, 194 women were determined to be in either the hCG-negative group (n=137) or the hCG-positive group (n=57). The detection rate of deep myometrial invasion (16.8% vs. 36.8%; P =0.002), lymphovascular space invasion (10.9% vs. 24.6%; P =0.015), and metastatic lymph node (6.7% vs. 21.8%; P = 0.003) in patients with hCG-positive staining were analyzed to be significantly higher. Five-year disease-free survival (DFS) ( P = 0.015) and overall survival (OS) ( P = 0.024) rates were found to be higher in the hCG-negative group. hCG expression was found to be an independent risk factor for recurrence, and DFS in grade I-II EEC was limited to the uterus and with superficial myometrial invasion (low risk). No independent risk factors for OS were analyzed. hCG positivity is a risk factor with poor prognostic factors in endometrial cancer. It was concluded that hCG expression in low-risk EEC is a valuable negative prognostic factor for recurrence and DFS.

The presence of ectodermal adnexal structures in the uterine cervix, including sebaceous glands, hair follicles, and sweat glands, has been well documented in the literature. In theory, there exists the possibility of developing cutaneous-type lesions from the ectopic ectodermal structures in this location. Here we report the first case of cervical hair follicle-derived proliferations reminiscent of trichoadenoma, trichoepithelioma, and trichoblastoma (TA/TE/TB) in a 52-year-old woman who underwent a prophylactic hysterectomy due to a germline microphthalmia-associated transcription factor ( MITF ) gene mutation. The lesion was an incidental finding in the cervix, exhibiting a spectrum of morphologic features ranging from germinative TB with basaloid cells, to TE with some degree of infundibulocystic differentiation, to well-differentiated TA. In some areas, hair follicle-like structures were associated with sebaceous glands, forming pilosebaceous units. The proliferations in the TB-like area resembled adenoid basal epithelioma/carcinoma; however, ancillary studies, particularly patchy p16 expression and non-detection of HPV, argued against this diagnosis. Similar to adenoid basal tumors, the TB-like lesion focally expressed NKX3.1, suggesting that it might be related to ectopic prostatic tissue or exhibit prostatic-lineage differentiation. While the theory of misplaced embryonal tissue, or an acquired metaplastic process, has been discussed, the histopathologic origin of these lesions remains largely unknown.

Primary lymphoma of the female genital tract (PLFGT) is a rare entity with nonspecific symptoms. Its prognosis relies on accurate and quick diagnosis and therapy despite the lack of standardized management guidelines. This study aimed to explore the clinicopathologic and radiologic characteristics; and differential diagnoses of women with lymphoma of the female genital tract (FGT) treated at the same institution. A retrospective study was conducted on 22 cases diagnosed with lymphoma of their FGT during the study period from June 2016 and December 2023. Medical records and radiologic, pathologic, management, and survival data were collected. The mean age was 49.45 yr, and the mean follow-up duration was 48 mo. Only 15 cases were diagnosed with PLFGT, while the remaining 7 cases were secondary to the disease. The ovary was the predominant site (9 cases), and diffuse large B-cell lymphoma was the main histologic subtype (90.9%). Eleven (50%) patients underwent surgery. PLFGT demonstrated a more favorable outcome (60% achieved complete remission). Treatment strategies and Ann Arbor staging were significantly correlated with overall survival. To avoid misdiagnosis, it is essential to include lymphoma in the differential diagnosis of histologically difficult gynecologic neoplasms. Increasing awareness about this rare entity and providing a preoperative diagnosis is paramount to avoid unnecessary gynecologic surgery.

Primary retroperitoneal mucinous carcinomas (PRMCa) are exceedingly rare and poorly understood neoplasms, with <80 cases documented in the medical literature and molecular profiling hardly ever performed. Recent theories suggest that PRMCa might develop from mature cystic teratomas or Brenner tumors, mirroring their ovarian counterparts. However, only 2 cases of primary retroperitoneal mucinous tumors associated with teratoma have been reported in the literature to support this idea. In this paper, we detail an exceptional case: a 66-yr-old woman with ovarian metastases stemming from a PRMCa that originated in a mature cystic teratoma. The patient initially presented with a long-standing cystic mass in the retroperitoneum, diagnosed as a mucinous carcinoma after surgical removal. Following initial resection, the patient experienced rapid metastatic progression requiring aggressive treatment. Interestingly, the later ovarian metastases exhibited the full spectrum of architectural complexity observed in the initial lesion. This "maturation phenomenon," frequently observed in ovarian metastases of mucinous tumors, remains enigmatic. Molecular analysis revealed a KRAS mutation along with an ERBB3 mutation, making it the first instance of ERBB3 mutation being documented in this specific entity. This case underscores the importance of thorough data collection and continued research to improve our understanding of these rare tumors.

The morphologic features of metastatic high-grade serous ovarian carcinoma (HGSOC) after neoadjuvant chemotherapy have not been described. We conducted a 1-year retrospective, single-institution review of pretreatment biopsy and posttreatment metastases in cases of HGSOC treated with neoadjuvant chemotherapy. Two gynecologic pathologists and 1 pathology resident reviewed 11 cases looking for 6 morphologic features. We correlated these features with patient information on HRD abnormalities (HRD score, germline, and/or somatic BRCA mutations). When compared with the pretreatment biopsies of metastases taken at the time of diagnosis, the postneoadjuvant, treated metastases had unique morphologic findings, such as cytoplasmic vacuolization, cellular enlargement with eosinophilic cytoplasm, macro-nucleoli, cellular discohesion, and micropapillary architecture with abundant psammoma bodies. Metastases were also morphologically different from the primary site in the postneoadjuvant resection specimens.

The morphologic features of uterine smooth muscle tumors (USMTs) are subject to interobserver variability and are complicated by consideration of features of fumarate hydratase deficiency (FHd) and other morphologic subtypes, with difficult cases occasionally diagnosed as smooth muscle tumor of uncertain malignant potential (STUMP). We compare immunohistochemical findings and detailed morphologic analysis of 45 USMTs by 4 fellowship-trained gynecologic pathologists with comprehensive molecular analysis, focusing on FHd leiomyomas (n=15), compared to a variety of other USMTs with overlapping morphologic features, including 9 STUMPs, 8 usual-type leiomyomas (ULM), 11 apoplectic leiomyomas, and 2 leiomyomas with bizarre nuclei (LMBN). FHd leiomyomas, defined by immunohistochemical (IHC) loss of FH and/or 2SC accumulation, showed FH mutations and/or FH copy loss in all cases, with concurrent TP53 mutations in 2 tumors. Severe and/or symplastic-type cytologic atypia was seen more often in FHd leiomyomas with only FH copy loss (6/8, and 2/2 with concurrent TP53 mutations) compared to those with FH mutations (2/7) and typically showed increased genomic instability. This subset of FHd tumors often showed morphologic overlap with STUMPs and LMBN, but all cases of FHd tumors showed 2SC accumulation and/or FH loss by IHC. In conclusion, we highlight the importance of investigating USMTs with severe and/or symplastic-type cytologic atypia with FH and 2SC IHC, as many of these tumors are FH-deficient via focal deep deletion (2-copy loss) of the FH locus. In addition, we report the presence of concurrent TP53 mutations in FHd tumors with more severe cytologic atypia; further data about clinical outcomes for these tumors are needed.

A subset of human papillomavirus (HPV)-associated endocervical adenocarcinoma (EA) displays exclusively exophytic growth, with or without a classic villoglandular appearance. Given that increased depth and extent of destructive stromal invasion are associated with poorer prognosis for HPV-associated EA, it is believed that exclusively exophytic tumors are associated with a relatively indolent clinical course. There is, however, a paucity of data regarding the behavior of these neoplasms. We assembled a cohort of 73 patients with entirely resected cervix-confined HPV-associated EA treated with primary operative therapy. The tumors were classified based on architecture and presence/extent of stromal invasion, and histopathologic parameters, including the International Federation of Gynecology and Obstetrics (FIGO) 2018 substage and lymphovascular invasion (LVI). Clinical outcomes including local recurrence, metastasis, and death were evaluated. Of 73 tumors, 4 (6%) demonstrated exclusively exophytic growth (0.4-2.2 cm in maximal dimension). All lacked LVI as well as nodal involvement. None of the 4 patients with exclusively exophytic tumors received adjuvant therapy. Two of the 4 (50%), however, experienced recurrence and both patients eventually died of causes related to EA. Of the remaining 69 cases with a component of nonexophytic growth, <6% of patients experienced tumor recurrence. Our study has found that, in at least a subset of cases, exclusively exophytic HPV-associated EA is associated with adverse outcomes. Additional studies are needed to substantiate these findings and to identify additional features (pathologic, molecular, etc.) that may aid in identifying those patients who could benefit from more aggressive treatment.

Female adnexal tumor of presumed Wolffian origin (FATWO) is a rare gynecologic neoplasm favored to arise from mesonephric (Wolffian) remnants. Although most tumors are benign, rare recurrences have been reported. Herein, we present a case of a 65-year-old female with incidental peritoneal lesions detected on routine ultrasound that morphologically and immunohistochemically were diagnostic of FATWO. Review of her medical history uncovered a remote history (>30 years) of a para-ovarian cystectomy, which was punctured intraoperatively. Slide review confirmed the diagnosis of FATWO, thereby suggesting iatrogenic dissemination from the original procedure. This report highlights the importance of a thorough review of the medical record when encountering a nonprototypical location for a distinctive tumor. In addition, the slow-growing nature of these lesions, as well as the absence of atypical histologic features, further contributes to the hypothesis that the majority of FATWOs are benign.

High-grade serous carcinomas (HGSCs) with homologous recombination deficiency (HRD) respond favorably to platinum therapy and poly ADP ribose polymerase (PARP) inhibitors. Mutations in BRCA1 and BRCA2 commonly cause HRD and have been associated with Solid, pseudoEndometrioid, and Transitional-like (SET-like) histology. Mutations in other homologous recombination repair (HRR) genes as well as epigenetic changes can also result in HRD; however, morphologic correlates have not been well-explored in these cases. We hypothesized that HGSCs with HRD, regardless of the etiology, are associated with specific morphologic features. Forty-three cases of HGSC with genomic profiling, which included HRR gene mutation analysis and HRD score, were evaluated. The morphologic patterns, degree of nuclear atypia, necrosis, mitotic index, and tumor-infiltrating lymphocytes (TILs) were determined. The results showed that HRD-high status was significantly associated with the presence of BRCA1/2 mutation, SET-like morphology, geographic necrosis, and severe nuclear atypia. Additional HRR pathway genes with oncogenic mutations identified included ATM, BRIP1, BLM, FANCC, CDK12, CHEK2, RAD51C, and RAD51D . Almost one-third of HRD-high tumors did not have mutations in any HRR pathway genes identified. In conclusion, HGSC with HRD, regardless of BRCA1/2- status, was associated with SET-like morphology and more severe nuclear atypia. Identifying and reporting these patterns of tumor morphology can prompt genomic profiling with prognostic, therapeutic, and genetic counseling implications.