International Journal of Gynecological Pathology最新文献

Definitive diagnosis of endometriosis is established by histologic confirmation in tissue from surgically visualized lesions; however, the diagnostic sensitivity of this approach varies widely. We hypothesized that incomplete tissue block sampling may contribute to false-negative diagnosis, particularly if the focus of endometriosis in the tissue section is scant. This study defined the diagnostic value of deeper level tissue sections in cases in which none of the specimen parts contained endometriosis on the initial tissue sections, using the World Health Organization essential criteria for diagnosis of endometriosis (presence of endometrial glands and endometrial stroma). Among 135 patients who underwent surgery for suspected endometriosis by a single surgeon at an academic institution from 2015 to 2019, the initial tissue sections resulted in a diagnosis of endometriosis in 73.3% (99/135), at an average diagnostic yield of 5.9 slides per diagnosis of endometriosis. An additional 9 patients were diagnosed with endometriosis by deeper level tissue sections, increasing the diagnostic rate to 80% (108/135). This 6.7% gain in the diagnostic rate came at an increase in resource utilization, with an overall overage diagnostic yield of 9.8 slides per diagnosis of endometriosis. Overall, 8.3% of patients had a false-negative diagnosis on the initial tissue sections. When extrapolated to a population level, the number of patients potentially affected by this source of false-negative diagnosis and the implications for patients merit consideration of the use of deeper level sections if none of the initial sections of any of the specimens contains endometriosis.

Cellular angiofibromas (CAFs) are benign mesenchymal neoplasms of the vulva and lower genitourinary tract. Although most cases are benign with excellent prognosis, data on CAFs with cytologic atypia (aCAF) and sarcomatous transformation (tCAF) is limited. We identified 13 vulvar CAFs comprising 4 aCAFs and 9 tCAFs. The median age at presentation was 49  yr (40-84). All tumors involved the subcutis with a median size of 4.75 cm (0.8-11.7). Vascular and stromal hyalinization was present in all cases. Fascicular growth pattern and chronic perivascular inflammation were seen in 10 cases, followed by wispy collagen in 11 and stromal inflammation in 12. Common features were fat entrapment (n=8), stromal edema (n=7), and hemangiopericytoma-like vessels (n=5), while myxoid change, necrosis (n=3 each), hemorrhage, collagen bundles (n=2 each), solitary fibrous tumor-like appearance, and large hyalinized vessels (n=1 each) were rare. The atypia ranged from isolated atypical cells to foci of multinucleated cells, with brisk mitoses in 1 case. The sarcomatous transformation involved 10% to 80% of total tumor volume and comprised features of well-differentiated liposarcoma, pleomorphic liposarcoma, leiomyosarcoma, and spindle and epithelioid cell sarcoma. Diffuse p16 expression was present in 2 tCAFs. Of 10 patients with available follow-up (median: 103.3 mo, 13.3-156.6), 2 (20%) recurred at 41 mo and 66 mo and remained disease-free at 157 and 99  mo post reexcision, respectively. The study provides a detailed clinicopathologic characterization of rare variants of CAF, aCAFs, and tCAFs, and reports rare recurrences, most likely due to incomplete surgical excision.

Mesonephric-like adenocarcinoma (MLA) of the uterus is a rare, aggressive malignancy of presumed Müllerian origin that was recently included in the 2020 World Health Organization (WHO) Classification of Female Genital Tumours. MLA is challenging to diagnose given its rarity and morphologic heterogeneity. The recently published first case report of MLA that underwent dedifferentiation via TP53 mutation expands the morphologic spectrum of dedifferentiated carcinoma. In here, we describe a second case of an endometrial MLA with dedifferentiation from a 41-yr-old woman who presented with bilateral ovarian masses, peritoneal carcinomatosis, and hypercalcemia. A diagnosis of small cell carcinoma of the ovary, hypercalcemic type, was initially rendered at an outside institution from an omental biopsy, which only showed the undifferentiated component. The subsequent endometrial curettings performed at our institution showed both the MLA and undifferentiated components, each of which demonstrated distinct immunophenotype with the immunoreactivity to epithelial markers, GATA3 and TTF1 limited to the MLA component and the aberrant nuclear expression of beta catenin, global loss of expression of SMARCA4 and loss of expression of SMARCA2 limited to the undifferentiated component. Molecular studies on the undifferentiated component from the omental biopsy identified not only a mutation in KRAS, gene mutation commonly seen in MLA, but also mutations in SMARCA4 and CTNNB1. In summary, we describe a second case of dedifferentiated MLA with dedifferentiation driven by various genetic alterations, including SMARCA4 and CTNNB1 gene mutations, novel gene alterations that have never been described in dedifferentiated MLA.

SOX17 has recently emerged as a novel immunohistochemical marker for cancers of endometrial and ovarian origin with improved specificity compared with the widely used Mullerian marker PAX8. However, evaluation of SOX17 in benign and malignant peritoneal mesothelial proliferations remains limited, and these may mimic gynecologic carcinomas, particularly on small biopsies. We evaluated SOX17 and PAX8 expression in 20 benign mesothelial lesions (5 adenomatoid tumors, 5 well-differentiated papillary mesothelial tumors, and 10 peritoneal inclusion cysts) and 16 epithelioid peritoneal mesotheliomas. The 17 female and 3 male patients with benign mesothelial lesions ranged from 20 to 80 yr (median: 56.5 yr), while the 9 females and 7 males with mesothelioma ranged from 47 to 85 yr (median: 57.5 yr). SOX17 was positive in 5 (25%) benign lesions (2 adenomatoid tumors, 3 peritoneal inclusion cysts) and 2 (13%) mesotheliomas, while PAX8 stained 8 (40%) benign lesions (1 adenomatoid tumor, 1 well-differentiated papillary mesothelial tumor, 6 peritoneal inclusion cysts), and 2 (13%) mesotheliomas. Results for the 2 stains showed incomplete concordance, with agreement in 15 (75%) benign proliferations and 14 (88%) mesotheliomas. Our findings suggest that SOX17 positivity alone is insufficient to confirm a diagnosis of gynecologic carcinoma over a mesothelial proliferation and pathologists should exercise caution when these entities are diagnostic considerations.

The International Society of the Study of Vulvovaginal Diseases (ISSVD) recently defined nonsclerotic lichen sclerosus (NSLS) as a scenario wherein the clinical findings are consistent with lichen sclerosus (LS), but no microscopic evidence of dermal sclerosis is found and recognized 4 histologic subcategories. Herein, we present an institutional experience with NSLS, with an emphasis on frequency, application of the ISSVD categories in routine practice, and clinicopathologic correlation. The authors reviewed clinical and pathologic findings for consecutive vulvar biopsies in which LS was a clinical and/or pathologic consideration. Cases were classified as classical/sclerotic LS (CLS), NSLS (per ISSVD criteria), and "unclassified," the latter of which were cases not classifiable as NSLS or CLS, despite a clinical impression or LS or LS being a significant clinical consideration (ie, "clinical LS"). In clinical LS cases, CLS and NSLS were diagnosed histologically in 61% (182/298) and 15% (44/298), respectively, whereas the remainder were histologically unclassified. The latter group was microscopically heterogeneous, devoid of a consistent pathologic profile, and generally showed absence, focality, minimality, ambiguity, or infrequency of features that would have allowed their categorization into one of the NSLS categories. Among the 4 categories for the categorizable NSLS cases, the "lichenoid dermatitis" pattern (61.4%) was the commonest, followed by dermal fibrosis with acanthosis (22.7%), dermal fibrosis without acanthosis (9.1%), and hypertrophic lichenoid dermatitis (6.8%). The clinical response rates to topical therapies for the NSLS and unclassified groups were 71% and 62%, respectively ( P =0.4). Our findings highlight the significance of clinicopathologic correlation in the diagnosis of NSLS. In the setting of clinical LS, some histologic evidence to support that impression is found in most cases when the ISSVD system for diagnosis and classification of biopsies is applied. However, a subset of clinical LS cases are not pathologically classifiable as either CLS or any of the NSLS categories; these display nonspecific histologic features and require future study.

An adenomatoid tumor (AT) is a benign lesion, which is commonly located in the genital tract of both sexes. We present a case of a 66-yr-old woman with the unusual characteristics of an AT mimicking peritoneal carcinomatosis. The tumor was detected incidentally by ultrasound examination, and an ensuing imaging study raised suspicion of ovarian cancer with peritoneal carcinomatosis. From the pathologic diagnosis of frozen specimens, clear cell carcinoma was noted and the patient subsequently underwent cytoreductive surgery. An 8.5-cm-sized mass was observed on the uterine serosa, extending into the myometrium. In addition, multi-cystic nodular lesions were identified in the omentum, appendiceal and small bowel serosa, and the peritoneum. After histologic and extensive immunohistochemical examinations, the final diagnosis was AT. Recognition of the diverse presentations of AT is crucial for accurate diagnosis and appropriate treatment, as these tumors can involve multiple sites and mimic peritoneal carcinomatosis, potentially leading to a misdiagnosis of malignancy.

Epithelial ovarian neoplasms are commonly observed in older patients, while germ cell tumors (GCTs) typically present in young individuals. When GCTs are detected in patients over 35 yrs old, they often have an associated epithelial component, a phenomenon known as somatically derived GCTs. We report a unique case of mixed GCT involving bilateral ovaries with a background of high-grade serous carcinoma, including a yolk sac tumor and choriocarcinoma in the mixed GCT component. Somatically derived GCTs are rare with only 45 cases of ovarian carcinoma with somatic yolk sac tumor reported to date. Pathologists face diagnostic challenges in identifying somatically derived GCTs, as they can mimic high-grade epithelial neoplasms. Somatically derived GCTs have poor outcomes, therefore, precise diagnosis is crucial for prognostic and therapeutic considerations.

Several types of myometrial invasion in endometrioid-type endometrial adenocarcinoma (EEC) have been identified: adenomyosis-like changes; adenoma malignum; broad front, single-cell/cell clusters; and the microcystic elongated and fragmented (MELF) pattern. This study aims to investigate the effect of the MELF pattern on recurrence type and survival rate among patients with EEC. We retrospectively reviewed the records of patients diagnosed with EEC over a 10-year period from January 2011 to January 2021. Among 108 patients with EEC, 54 had recurrence (study group), and 54 did not (control group). The MELF pattern was more common in the group with recurrence than in the group without recurrence (40.7% vs. 14.8%; P =0.002). The MELF pattern was observed in 60.0% of patients with local recurrence and 29.4% of patients with extrapelvic or distant organ metastases ( P =0.027). Evaluation of 5-year disease-free survival ( P =0.003) and overall survival ( P =0.001) rates showed that MELF positivity was associated with decreased survival. Among patients with grade I-II EEC lacking uterine-localized myometrial invasion, the MELF pattern was less common in the nonrelapsed group than in the local relapse group (10.0% vs. 60.0%; P <0.001). The MELF pattern (odds ratio=19.4, 95% CI=1.2-31.2) was a significant independent negative predictor for local recurrence. The MELF pattern was more common in patients with recurrence, especially local recurrence. This finding suggests that the MELF pattern primarily impacts direct local invasion rather than hematogenous or lymphatic spread.

Endometrial carcinoma with intestinal differentiation/colorectal carcinoma-like (CRC-like) features is rare with few cases reported to date. Those described are mainly endometrioid carcinomas with intestinal differentiation. We report a case of high-grade endometrial carcinoma with serous and intestinal/CRC-like components. The gross, histologic, immunohistochemical, and molecular features are described for both components of the tumor in the initial diagnostic biopsy and subsequent resection specimen. The diagnosis of primary endometrial carcinoma with serous and CRC-like components is supported by immunohistochemical and molecular findings, as well as clinical workup. The rarity of this phenomenon poses diagnostic challenges. In addition, the literature is reviewed with specific emphasis on the molecular and pathologic features of mixed endometrial carcinomas, including those with intestinal/CRC-like features.