Challenges in the management of Turner syndrome with Y chromosome material: a case report of prophylactic gonadectomy revealing dysgerminoma.

Turner syndrome (TS) patients with Y chromosome material face an increased risk of gonadal germ cell tumors (GCTs). This case report discusses the challenges in decision-making regarding prophylactic gonadectomy, considering the risk of malignancy and the desire to preserve fertility. We report a case of a 12-year-old female with mosaic TS and Y chromosome material who initially presented with short stature and obesity. Karyotype analysis showed a mixed cell line (45X and 46XY). Counseling about the increased risk of developing GCT and preservation of gonadal function was provided, and we decided to delay gonadectomy until the age of 12. Prophylactic bilateral gonadectomy revealed dysgerminoma associated with GB at the age of 12. Fortunately, the patient was asymptomatic, with no additional therapy required due to the early stage of the disease. The case highlights the dilemma in managing TS patients with Y chromosome material, where the risk of GCT varies depending on the type of difference in sex development and gonadal function. The decision to delay gonadectomy reflects the emphasis on preservation of ovarian, although it poses a risk of malignancy. This case underscores the importance of individualized care in TS patients with Y chromosome material, balancing the risk of malignancy against preservation of ovarian. It emphasizes the need for timely and personalized decision-making in prophylactic gonadectomy.

Ovarian serous borderline tumors with recurrent or extraovarian lesions: a Japanese, retrospective, multi-institutional, population-based study.

BACKGROUND: Ovarian serous borderline tumors (SBT) are typically unilateral and are primarily treated using hysterectomy and bilateral salpingooophorectomy (SO). However, most young patients prefer fertility-sparing surgeries (FSS) with tumorectomy or unilateral SO. Micropapillary morphology and invasive implants have been designated as histopathological risk indicators for recurrence or metastasis, but their clinical impact remains controversial because of limitations like diagnostic inconsistency and incomplete surgical staging. METHODS: A nationwide multi-institutional population-based retrospective surveillance was conducted with a thorough central pathology review to reveal the clinical features of SBT. Of 313 SBT patients enrolled in the Japanese Society of Clinical Oncology's Surveillance of Gynecologic Rare Tumors, 289 patient records were reviewed for clinical outcomes. The glass slides of patients at stage II-IV or with recurrence or death were re-evaluated by three gynecological pathologists. RESULT: The 10-year overall and progression-free survival (PFS) rates were 98.6% and 92.3%. The median recurrence period was 40 months and 77.0% was observed in the contralateral ovary within 60 months. Patients aged ≤ 35 years underwent FSS more frequently and relapsed more (p < .001). A clinic-pathological analysis revealed diagnosis during pregnancy, FSS, and treatment at non-university institutes as well as advanced stage and large diameter were independent risk factors of recurrence. Among patients having pathologically confirmed SBTs, PFS was not influenced by the presence of micropapillary pattern or invasive implants. CONCLUSION: The recurrence rate was lower in this cohort than previous reports, but the clinical impacts of incomplete resection and misclassification of the tumor were still significant on the treatment of SBT.

Cranial vault lymphoma - A case report and characteristics contributing to a differential diagnosis.

Background: Lymphomas of the cranial vault are rare and are often misdiagnosed preoperatively as presumptive meningioma with extracranial extension. Case Description: A 58-year-old woman was referred and admitted to our department with a rapidly growing subcutaneous mass over the right frontal forehead of 2 months' duration. The mass was approximately 13 cm at its greatest diameter, elevated 3 cm above the contour of the peripheral scalp, and attached to the skull. Neurological examination showed no abnormalities. Skull X-rays and computed tomography showed preserved original skull contour despite the large extra and intracranial tumor components sandwiching the cranial vault. Digital subtraction angiography showed a partial tumor stain with a large avascular area. Our preoperative diagnostic hypothesis was meningioma. We performed a biopsy and histological findings were characteristic of a diffuse large B-cell lymphoma. A very high preoperative level of soluble interleukin-2 receptor (5390 U/mL; received postoperatively) also suggested lymphoma. The patient received chemotherapy but died of disease progression 10 months after the biopsy. Conclusion: Several preoperative features of the present case are clues to the correct diagnostic hypothesis of cranial vault diffuse large B-cell lymphoma rather than meningioma, including a rapidly growing subcutaneous scalp mass, poor vascularization, and limited skull destruction relative to the size of the soft-tissue mass.

Characteristics of cranial vault lymphoma from a systematic review of the literature.

Background: Cranial vault lymphomas are rare and their clinical features are often similar to those of cranial vault meningiomas. The objective of this review was to identify the features helpful for differentiating lymphomas of the cranial vault, from meningiomas which were the most common diagnosis before the definitive pathological diagnosis. Methods: The inclusion criterion was a histologically proven malignant lymphoma initially appearing in the calvarium. We conducted a literature search of the electronic PubMed and Ichushi-Web databases up to June 1, 2020. Cranial vault lymphoma that was diagnosed after an original diagnosis of lymphoma in a nodal or soft-tissue site was excluded from the study. Descriptive analyses were used to present the patient characteristics. Results: A total of 111 patients were found in 98 eligible articles. Almost all studies were case reports. The most common symptom was a growing subcutaneous scalp mass (84%) present for a mean duration of 5.9 months before the patient presented for treatment in analyzable cases; this fast growth may distinguish lymphomas from meningiomas. The tumor vascularization was often inconspicuous or poor, unlike well-vascularized meningiomas. A disproportionately small amount of skull destruction compared with the soft-tissue mass was observed in two-thirds of the analyzable cases. Conclusion: This qualitative systematic review identified several features of cranial vault lymphomas that may be useful in differentiating them from meningiomas, including a rapidly growing subcutaneous scalp mass, poor vascularization, and limited skull destruction relative to the size of the soft-tissue mass.

Retinol dehydrogenase 10 contributes to cancer stemness and intracellular carbohydrate storage in ovarian clear cell carcinomas.

BACKGROUND: Ovarian clear cell carcinomas (OCCCs) have been recurrent and refractory among the present treatments, so novel therapeutics are urgently needed. OBJECTIVE: The present study accumulates the proof of concept to examine the feasibility of RDH10 as a therapeutic target for treating OCCCs. METHODS: Immunohistochemically, RDH10 expression was evaluated in 111 primary epithelial ovarian cancers, including 55 OCCCs, 31 ovarian endometrioid carcinomas and 25 ovarian serous carcinomas. The spherogenecity provoked by RDH10 was evaluated in OCCC cells. To analyze whether RDH10 promotes carbohydrate storage via the vitamin A-gluconeogenesis pathway, phosphoenolpyruvate carboxykinase 1 (PCK1) protein levels and intracellular carbohydrate content were measured in response to modified RDH10 expression. RESULTS: Abundant RDH10 was expressed specifically in OCCCs. RDH10 promoted spherogenecity and intracellular carbohydrate storage via modulation of PCK1 expression in OCCC cells. CONCLUSIONS: In the present study, abundant RDH10 contributed to cancer cell stemness and intracellular carbohydrate storage in OCCCs. RDH10 is a potentially, new therapeutic candidate for treating OCCC cases.

The association between chronic deciduitis and preeclampsia.

Chronic deciduitis (CD) is slight inflammation of the decidua found during pregnancy. The cause of preeclampsia is thought to be placental hypoplasia, and various theories have been proposed to explain the detailed mechanism; however, its association with decidual inflammation is unclear. A retrospective case control study was conducted in a single university. Subjects were cases who delivered by cesarean section between January 1, 2013 and June 30, 2020 and whose placentas were pathological assessed. CD was diagnosed by CD138 immunostaining of placental decidua tissue, and the perinatal prognosis and incidences of hypertensive disorder of pregnancy and preeclmpsia were examined according to the presence or absence of CD. A logistic regression analysis was performed to evaluate the association between preeclampsia and 11 explanatory variables (10 patient or perinatal background factors and CD). The study population included 76 patients (non-CD, n = 54; CD, n = 22). The rate of preeclampsia was significantly higher in the CD group (P = 0.0006). Patients with CD gave birth at a significantly earlier gestational age (P=0.040) with a lower birth weight (P = 0.001), and a higher rate of LFD (P = 0.005). The Apgar scores at 1 and 5 min and umbilical artery pH were lower (P = 0.0003, 0.021 and 0.002, respectively) in the CD group. The logistic regression analysis revealed that CD was positively associated with preeclampsia. A retrospective examination of the placenta found that patients with CD had a significantly higher incidence of preeclampsia and CD is considered to be a factor that is associated with poor perinatal outcomes.

An abdominal-sacral approach with preoperative embolisation for vulvar solitary fibrous tumour: a case report.

BACKGROUND: Solitary fibrous tumours (SFTs) in the female genital tract are uncommon. Resection of these tumours is controversial because it can cause life-threatening haemorrhage. We report a case of vulvar SFT that was excised in a combined abdominal-sacral approach after preoperative embolisation. CASE PRESENTATION: At another hospital, an inoperable intrapelvic tumour was diagnosed in a 34-year-old woman. Computed tomography and magnetic resonance imaging showed that the uterus, urinary bladder and rectum were compressed laterally by a pelvic tumour with a maximum diameter of 11 cm. This mass was hypervascular and had a well-defined border. Transperineal biopsy was performed, and immunostaining revealed that the mass was an SFT. The tumour was supplied by feeding vessels from the right iliac arteries. First, we embolised the feeding vessels. Second, we performed surgical resection in a combined abdominal-sacral approach; no blood transfusion was necessary, and no perioperative complications occurred. The final pathological diagnosis was SFT that was positive for CD34 and signal transducer and activator of transcription 6 according to immunohistochemical staining. CONCLUSION: During a year of follow-up, the disease did not recur. Treatment of pelvic SFT should aim at complete resection through various approaches after careful measures are taken to prevent haemorrhage.

Myoepithelial Carcinoma Occurring on the Ascending Aorta.

Myoepithelial carcinomas are rare malignant tumors that primarily develop in exocrine glands. We present a case of myoepithelial carcinoma located on the aorta of a 39-year-old Japanese woman. Complete resection of the tumor and aorta was performed using cardiopulmonary bypass. Histologic and immunohistochemical analyses confirmed the diagnosis. The patient was symptom-free after the operation, and no tumor recurrence was observed during 7 years of follow-up. We report a rare myoepithelial carcinoma occurring on the aorta.

A mixed Müllerian cystadenoma presenting as a paraurethral tumor.

•We report the first case of a paraurethral mixed Müllerian cystadenoma.•The cystic lesion was lined by a mixture of three different types of epithelium.•All epithelial cells were positive for estrogen receptor and PAX8.

The effects of chronic endometritis on the pregnancy outcomes.

PROBLEM: Chronic endometritis (CE) influences the clinical outcomes of assisted reproductive technology. However, the effect of CE on the pregnancy outcome is still unknown. METHOD OF STUDY: A retrospective case-control study was conducted in a single university. Subjects who conceived by in vitro fertilization within a year after a histological diagnosis of CE under 40 years of age from September 2013 to December 2017 were extracted. The rates of miscarriage, preterm birth, term birth, and live birth per pregnancy according to the presence or absence of CE were analyzed. A logistic regression analysis was performed for miscarriage, preterm birth, term birth, and live birth for eight explanatory variables of seven infertility factors and CE. RESULTS: A total of 39 pregnancies in 38 subjects with non-CE and 35 pregnancies in 32 subjects with CE were ultimately analyzed. The rates of miscarriage, preterm birth, term birth, and live birth per pregnancy were 12.8% and 40.0% (P < .03), 2.6% and 14.3% (P = .1), 84.6% and 45.7% (P < .001) and 84.6% and 57.1% (P < .03) in the Non-CE and CE groups, respectively, although only the analysis for tem birth rate had sufficient power to exclude Type II error. In logistic analysis, CE was a factor affecting the objective variables of miscarriage, term birth, and live birth. CONCLUSIONS: The term birth rate among pregnancies decreased mainly due to an increase in miscarriages when CE was detected before pregnancy in patients treated with in vitro fertilization. A histopathological diagnosis of CE adversely affected the term birth rate per pregnancy.

Uncontrollable uterine atony after replacement of uterine inversion managed by hysterectomy: a case report.

BACKGROUND: Uterine inversion may cause massive hemorrhage, resulting in maternal deterioration and death. Replacement of the inverted uterus must be performed as soon as possible. As time passes, the inverted uterus becomes atonic and necrotic, and a surgical approach may be required. CASE PRESENTATION: A 27-year-old Japanese woman was admitted to our hospital 4 hours postpartum with increased hemorrhage after the replacement of an inverted uterus. Recurrent inversion was diagnosed, and though the atonic uterus was replaced again by the Johnson maneuver, hemorrhage persisted. Balloon tamponade was not successful in stopping the hemorrhage, and uterine artery embolization was performed. Bleeding resumed the next day on removal of the balloon, and hysterectomy was performed. Massive hemorrhage, coagulopathy, and uterine necrosis caused uterine atony, and the reperfused blood flow on replacement of the ischemic uterus increased hemorrhage. CONCLUSIONS: Cases of uterine inversion with coagulopathy lasting for more than 4 hours may require a surgical intervention, and uterine replacement may have to be delayed until the maternal hemodynamic condition is stabilized. Uterine replacement under laparotomy may be also be considered due to the risk of increased hemorrhage.

Multispectral quantitative immunohistochemical analysis of tumor-infiltrating lymphocytes in relation to programmed death-ligand 1 expression in triple-negative breast cancer.

BACKGROUND: Programmed death-ligand 1 (PD-L1) expression on immune cells (ICs) is a predictive marker for PD-L1 checkpoint blockade in patients with triple-negative breast cancer (TNBC). However, the level of PD-L1 expression and the percentage of cells that are PD-L1+ are continuous variables not dichotomous variables for tumor-infiltrating lymphocytes (TILs) and other cells. METHODS: Multiplexed immunohistochemistry was applied to 31 archived surgical specimens from untreated TNBC patients. TIL levels were visually scored, and CD8+ T cells and PD-L1+ ICs were quantified using an automated multispectral imaging system. PD-L1 expression was assessed within a multiplexed context (CD8 combined spectral composite). RESULTS: The mean value of stromal TILs (i.e., the percentage of the stromal area with a dese mononuclear infiltrate) was 20%. The frequency of patients with PD-L1-positive tumor cells (TC) and ICs was 38.7% and 32.2%, respectively, with a significant association between them. TIL levels were correlated with CD8+ T cell infiltration in the stroma (Spearman r = 0.795, p < 0.0001). PD-L1 expression on IC was significantly associated with TIL levels (Spearman r = 0.790, p < 0.001) and infiltration of CD8+ T cells (Spearman r = 0.683, p < 0.0001). CONCLUSIONS: The level of PD-L1 on IC was correlated with the level of PD-L1 on TC as well as TIL levels and infiltration of CD8+ T cells. These results suggest that high PD-L1 on IC may reflect T cell-inflamed tumors with the amount of TILs present, including the CD8+ T cells required for anti-tumor responses.

Diagnostic utility of programmed cell death ligand 1 (clone SP142) in mediastinal composite lymphoma: A report of two cases.

Composite lymphoma is a well-known diagnostic entity exhibiting the synchronous occurrence of two or more distinct types of lymphomas in the same specimen. Here we report two patients, a 14-year-old female (Case 1) and a 45-year-old male (Case 2), with mediastinal composite lymphoma, comprising nodular sclerosis classic Hodgkin lymphoma (NSCHL) and primary mediastinal large B-cell lymphoma (PMBL). Both patients had a mediastinal mass, and manifested two different histologic components in the same biopsy, one characteristic of NSCHL and the other PMBL. The NSCHL areas included Hodgkin and Reed-Sternberg (HRS) cells with typical immunophenotypic features (CD30-positive and CD20-negative), whereas the sheets of large tumor cells characteristic of PMBL were strongly and uniformly CD20-positive. Interestingly, although both cases showed neoplastic PD-L1 (nPD-L1) positivity on the HRS cells of NSCHL, they differed regarding nPD-L1 expression on the PMBL tumor cells. In Case 1, the nPD-L1-negative PMBL component was anatomically situated outside the NSCHL lesion. On the other hand, in Case 2, the nPD-L1-positive PMBL component was characterized by transitional or continuous areas with the NSCHL component. These findings suggested that nPD-L1 expression may define two subtypes of PMBL that are more similar to or distinct from classic Hodgkin lymphoma.

Long-term outcomes of ocular adnexal lesions in IgG4-related ophthalmic disease.

AIMS: To determine the long-term outcomes of ocular adnexal lesions in immunoglobulin G4-related ophthalmic disease (IgG4-ROD). METHODS: This retrospective, non-randomised exploratory study included 82 patients with ocular adnexal lesions. We evaluated the long-term outcomes in 71 patients during the median follow-up period of 30 months, who underwent either watchful waiting (n=20; range 12-90 months) or systemic corticosteroid treatment, delivered according to consensus guidelines (n=51; range 9- 115 months). We also analysed factors that might contribute to recalcitrance to treatment. RESULTS: Of 82 patients, 40 (49%) were male, and the median patient age was 60 years old. Twenty-one (26%) patients with extraocular muscle (EOM) and/or trigeminal nerve branch (CN V) enlargements had a significantly high frequency of multiple ocular adnexal lesions (p<0.0001, Fisher's exact test). In addition, two patients developed EOM and/or CN V enlargements de novo over time. Twenty patients with solitary lacrimal gland enlargements preferred watchful waiting, due to mild symptoms. Of these, 18 (90%) lesions remained dormant throughout a median follow-up of 27 months. Among 51 patients treated with corticosteroids, 31 (61%) experienced relapses after treatment and required systemic low-dose maintenance treatment. A multivariate analysis indicated that EOM and/or CN V enlargements comprised a risk factor for relapse (HR 2.7; 95% CI 1.1 to 6.7). CONCLUSIONS: This exploratory study showed that different types of ocular adnexal lesions in IgG4-ROD displayed distinct proliferative activities. Our results suggested that EOM and/or CN V enlargements might be secondary lesions that confer refractoriness to systemic corticosteroid treatment recommended by consensus guidelines.

Sclerosing Mesenteritis Mimicking IgG4-related Disease.

A 72-year-old man was followed as an outpatient at our hospital for 6 years after surgery for small cell carcinoma of left adrenal gland origin. Follow-up abdominal computed tomography showed a 6-cm mass in the left lower mesentery. The patient underwent open laparotomy. The histological diagnosis was sclerosing mesenteritis. The previous specimens of the left adrenal mass were then re-examined with a microscope, and panniculitis was found around the small cell carcinoma. Both lesions were histologically similar to IgG4-related disease (RD), but they did not completely meet the diagnostic criteria of IgG4-RD clinically or histologically.

[Immunohistochemical evaluation of BCL-2 expression in acute myeloid leukemia, myeloid sarcoma, and blastic plasmacytoid dendritic cell neoplasm].

Venetoclax, a selective BCL-2 inhibitor, is prescribed clinically for acute myeloid leukemia (AML) treatment. However, it is unclear if known chromosomal or genetic abnormalities associated with AML also influence BCL-2 expression. Few studies have examined BCL-2 expression in AML-related precursor neoplasms such as primary myeloid sarcoma (MS) and blastic plasmacytoid dendritic cell neoplasm (BPDCN). In this study, we examined BCL-2 expression using immunohistochemistry in 7 patients with AML, who also carried genetic and chromosomal abnormalities typical to AML including t (8;21), t (15;17), FLT3-ITD mutation, and complex karyotype, along with 1 patient with primary MS and 3 patients with BPDCN. As a result, expression of BCL-2 was observed in all patients with AML and 1 patient with primary MS. In the patients with BPDCN, BCL-2 was highly expressed in all regions with evidence of tumor cell infiltration, such as skin, bone marrow, and lymph node. These results could be used as evidence in the support of administering venetoclax to adverse-risk patients with AML, MS, or BPDCN.