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Epithelioid Trophoblastic Tumour: A Case with Genetic Linkage to a Child Born over Seventeen Years Prior, Successfully Treated with Surgery and Pembrolizumab.

ABSTRACT: Epithelioid trophoblastic tumours are rare neoplasms showing differentiation towards the chorion leave-type intermediate cytotrophoblast, with only a handful of cases being reported in the literature. These tumours are slow-growing and are typically confined to the uterus for extended periods of time. While the pathogenesis is unclear, they are thought to arise from a remnant intermediate trophoblast originating from prior normal pregnancies or, less frequently, gestational trophoblastic tumours. A protracted time period between the gestational event and tumour development is typical. This case describes a 49-year-old previously healthy female who presented with a completely asymptomatic uterine mass, discovered incidentally during a routine gynaecological assessment. The pathological analysis of the hysterectomy specimen confirmed an epithelioid trophoblastic tumour, involving the uterus and cervix. This is a rare gynaecological tumour. A comparative short tandem repeat analysis revealed genetic similarities to a previous healthy gestation seventeen years prior. She was successful treated with adjuvant pembrolizumab, with no evidence of disease recurrence to date.

SUBMITTER: Pisani D

PROVIDER: S-EPMC8700667 | biostudies-literature |

REPOSITORIES: biostudies-literature

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An extrauterine extensively metastatic epithelioid trophoblastic tumor responsive to pembrolizumab.

Project description:We report a case of extrauterine epithelioid trophoblastic tumor (ETT)-the rarest variant of gestational trophoblastic tumor-that has been stable on nearly two years of pembrolizumab treatment. A 47-year-old gravida 2, para 2 who underwent a prophylactic bilateral salpingo-oophorectomy nine years prior and bilateral mastectomy five years prior in the setting of a strong family history of breast and ovarian cancer with no genetic testing performed, presented to an outside clinic with recurrent respiratory infections without resolution despite antibiotics. Radiology and pathology testing confirmed the ETT diagnosis, including a second opinion from the John I. Brewer Trophoblastic Disease Center of Northwestern University's Feinberg School of Medicine, and the patient was started on a chemotherapy regimen of etoposide, methotrexate, actinomycin-D, etoposide, and cisplatin for seven cycles, with partial improvement in her disease. After PD-L1 testing showed the tumor had > 5% PD-L1 positivity, she initiated pembrolizumab in April 2019. CT imaging after three months revealed decreased lung, abdominal, and pelvic disease and she was continued on pembrolizumab. As of December 2020, she had completed 29 cycles of pembrolizumab, with a plan for her to continue treatment indefinitely given her decreased, but persistent, disease. Our findings suggest pembrolizumab is a reasonable option for treatment of patients with significant PD-L1 positivity on testing of the tumor.

| S-EPMC8258853 | biostudies-literature

Epithelioid trophoblastic tumor and its diagnostic dilemmas: A rare case report.

Project description:►This case is an unusual presentation of a rare disease entity. ►The diagnosis of epithelioid trophoblastic tumor can be challenging resulting in delay in diagnosis. ►Epithelioid trophoblastic tumor can have a very aggressive course, especially in metastatic disease.

| S-EPMC3861130 | biostudies-literature

Epithelioid Trophoblastic Tumors: Treatments, Outcomes, and Potential Therapeutic Targets.

Project description:Background: Epithelioid trophoblastic tumors (ETTs) are the rarest type of gestational trophoblastic neoplasias. We investigated the clinical features, treatments, outcomes, and prognostic factors in patients with ETT, and explored potential therapeutic targets. Methods: We retrospectively analyzed the clinical features, treatments, survival, and prognostic factors of 21 ETT patients treated at our institution between January 2002 and December 2017. Expression levels of programmed cell death 1 (PD-1), PD-1 ligands (PD-L1and PD-L2), B7 family ligands (B7-H3, B7-H4, V-domain Ig suppressor of T cell activation [VISTA], and B7-H6), and CD105 expression were assessed by immunohistochemistry. Results: Fourteen patients with ETT (66.7%) presented with irregular vaginal bleeding. Three stage I patients (14.3%) with normal ?-human chorionic gonadotropin (?- hCG) levels underwent hysterectomy alone. Of the remaining 18 patients who had elevated ?-hCG levels (85.7%), 1 received chemotherapy and 17 underwent surgery and multi-agent chemotherapy. After treatment, 17 patients (81.0%) achieved complete remission (2 of whom [11.8%] later relapsed) and 4 (19.0%) with stage IV died of their disease. On univariate and multivariate analyses, stage IV disease was an independent prognostic factor for overall and disease-free survival (P < 0.001). PD-L1, B7-H3, and CD105 were detected in 100% of samples, PD-L2 and VISTA in 82%, B7-H6 in 18%, and B7-H4 was undetectable in ETT cells. Conclusions: Hysterectomy and metastatic lesion resection are essential for controlling ETT. Surgery plus chemotherapy are recommended for patients with abnormal ?-hCG levels and metastatic disease. PD-L1, PD-L2, B7-H3, VISTA and CD105 are potential therapeutic targets for metastatic ETT.

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A well-circumscribed border with peripheral Doppler signal in sonographic image distinguishes epithelioid trophoblastic tumor from other gestational trophoblastic neoplasms.

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LPCAT1-TERT fusions are uniquely recurrent in epithelioid trophoblastic tumors and positively regulate cell growth.

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| S-EPMC8443839 | biostudies-literature

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Assessing Positive Child Health among Individuals Born Extremely Preterm.

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| S-EPMC6456448 | biostudies-literature

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