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Ovarian mature teratomas (OMTs) originate from post-meiotic germ cells. Malignant transformation occurs in approximately 1-2% of OMTs; however, sebaceous carcinoma arising from OMTs is rare. This is the first report of a detailed genomic analysis of sebaceous carcinoma arising from an OMT. A 36-year-old woman underwent evaluation for abdominal tumors and subsequent hysterectomy and salpingo-oophorectomy. Pathologically, a diagnosis of stage IA sebaceous carcinoma arising from an OMT was established. Eight months post-surgery, the patient was alive without recurrence. Immunohistochemically, the tumor was negative for mismatch repair proteins. A nonsense mutation in TP53 (p.R306*) and a deletion in PIK3R1 were identified. Single nucleotide polymorphisms across all chromosomes displayed a high degree of homozygosity, suggestive of uniparental disomy. Herein, the OMT resulting from the endoreduplication of oocytes underwent a malignant transformation to sebaceous carcinoma via TP53 as an early event and PIK3R1 as a late event.

Background: Tumor-to-tumor metastasis (TTM) is a rare but well-established phenomenon where histologically distinct tumors metastasize within each other. Here we report the first "known" case of follicular lymphoma that metastasized and extended to a mature ovarian teratoma., Case Presentation: A 59-year-old Japanese postmenopausal woman visited our hospital for a detailed examination of an ovarian tumor. Clinical imaging suggested it to be either teratoma-associated ovarian cancer with multiple lymph node metastases, or tumor-to-tumor metastasis from malignant lymphoma to ovarian teratoma. A bilateral adnexectomy and retroperitoneal lymph node biopsy were performed. Lined with squamous epithelium, the cyst constituted a mature ovarian teratoma, and the solid part showed diffuse proliferation of abnormal lymphoid cells. Immunohistochemically, the abnormal lymphoid cells were negative for CD5, MUM1, and CyclinD1, and positive for CD10, CD20, CD21, BCL2, and BCL6. Genetic analysis using G-banding and fluorescence in situ hybridization identified a translocation of t(14;18) (q32;q21), and we diagnosed tumor-to-tumor metastasis from nodal follicular lymphoma to mature ovarian teratoma. Twelve months after surgery, the patient showed no progression without adjuvant therapy., Conclusions: The present case suggests that molecular approaches are useful in the diagnosis of TTM in mature ovarian teratomas when morphologic and immunohistochemical findings alone are insufficient for diagnoses., (© 2023. The Author(s).)

Background: Teratocarcinosarcoma (TCS) is a rare aggressive tumor of the nasal cavity and paranasal sinuses and has both epithelial and two or more mesenchymal components. In other organs, 5 cases of ovarian tumors closely resembling TCS have been reported; however, there has been no published case of cervical TCS. Herein, we describe a unique case of cervical tumor that had carcinosarcomatous and teratomatous features, resembling a sinonasal TCS., Case Presentation: A 45-year-old woman presented to our hospital for evaluation of a cervical lesion. The gynecologist found a large polypoid mass, whose biopsy showed glandular components of probable germ cell origin based on the immunohistochemical features. The patient underwent total hysterectomy with bilateral salpingo-oophorectomy. The cervical polypoid mass was found to consist of both epithelial and mesenchymal tissues, including immature glandular structure resembling fetal enteric tubules, neuroepithelial cells, hyaline cartilage, and rhabdomyosarcoma cells. This tumor was diagnosed as TCS of the uterine cervix. Following the surgery, the patient received radiotherapy and has been free of disease for 13 months., Conclusion: This is the first case report of cervical TCS. The tumor is thought to be histogenetically less associated with HPV infection, and its teratomatous components with an absence of cytogenetic abnormalities (including isochromosome 12p (i(12p)) suggest a analogous histogenesis compared to pure mature or immature teratoma.

Background: Tumor-to-tumor metastasis (TTM) is a rare but well-documented phenomenon that is defined as metastasis in a histologically distinct tumor. Ovarian mature teratomas (OMTs) can coexist with various cancers by malignant transformation, which may make it difficult to distinguish these from TTM. Herein, we report a case of TTM from appendiceal adenocarcinoma to the OMT, mimicking the malignant transformation of OMT., Case Presentation: A 67-year-old Japanese woman underwent abdominal total hysterectomy and bilateral salpingo-oophorectomy for an ovarian tumor in another hospital. She was initially diagnosed with mucinous carcinoma/carcinoid arising in the OMT. One year after surgery, she was referred to our hospital after the presentation of increased appendiceal mass. Cecal biopsy targeting an appendiceal tumor revealed scattered mucinous cells with signet ring features, which were morphologically similar to the malignant components in the previously diagnosed right OMT. Both the appendiceal adenocarcinoma and malignant components of the OMT stained positive for CK7, CK20, CDX-2, and SATB2 but negative for estrogen receptor, progesterone receptor, and pax-8. Finally, we confirmed the diagnosis of appendiceal goblet cell carcinoid metastasizing to the right OMT. The patient had tumor-bearing survival due to systemic chemotherapy administered for 35 months after the initial surgery., Conclusions: Awareness of the TTM phenomenon is important to avoid an incorrect diagnosis and to select the appropriate therapy when unusual malignancy is encountered in the OMTs.

Rationale: Malignant melanoma (MM) arising in ovarian cystic teratoma (OCT) is a rare disease with poor prognosis. Recently, immune checkpoint inhibitors of cytotoxic T-lymphocyte-associated antigen 4 (CTLA4) and programmed death 1 (PD-1) have shown promising results in MM. Herein we report a case of MM arising in OCT., Patient Concerns: A 63-year-old Japanese primigravida had lower abdominal pain. Magnetic resonance imaging revealed the presence of an 85-mm mass at the right ovary., Diagnoses: The patient underwent right salpingo-oophorectomy for right ovarian tumor, and histopathological examinations revealed MM arising in OCT. On immunohistochemical analysis, the tumor cells were positive for HMB-45, Melan A, and S-100 protein, and negative for programmed death-ligand 1 (PD-L1). BRAF gene mutations were not detected by the Real-Time PCR. Two months after surgery, liver metastasis was detected., Interventions: The patient underwent immune checkpoint inhibitors of CTLA4 (ipilimumab) and PD-1 (pembrolizumab and nivolumab). She had interstitial pneumonia associated with ipilimumab, but she safely underwent the immune checkpoint inhibitors therapy along with oral prednisolone. Pembrolizumab, ipilimumab, and nivolumab therapies had poor effect on the tumor., Outcomes: Now, the present case has had tumor-bearing survival for 14 months since the initial diagnosis and 12 months since the detection of liver metastasis., Lessons: This is the first case of MM arising in OCT treated by immune checkpoint inhibitors, with information of PD-L1 immunohistochemical expression and adverse events. The present case is the longest survivor following the detection of recurrence among all the previous reports. The long survival and slow-growing tumor in the present case may be associated with no PD-L1 expressions.