Case report: NUT carcinoma with MXI1::NUTM1 fusion characterized by abdominopelvic lesions and ovarian masses in a middle-aged female

Abstract

BackgroundNuclear protein of the testis (NUT) carcinoma is a rare subset of poorly differentiated, highly aggressive malignancy defined by NUTM1 gene rearrangements. Only three NUT cases of probable ovarian origin have been reported.Case presentationWe report a case of NUT carcinoma in a 53-year-old female who presented with extensive abdominopelvic lesions and bilateral ovarian masses suggestive of advanced ovarian cancer. This patient was admitted to our hospital due to abdominal pain and distension for over two months. Imaging examinations suggested a possible malignancy of bilateral adnexal origin. This patient first underwent diagnostic laparoscopy. After receiving neoadjuvant chemotherapy, she underwent cytoreductive surgery. Surgical pathology showed infiltration of monotonous round tumor cells with no apparent differentiation characteristics. Immunohistochemistry (IHC) revealed nuclear expression of the NUT protein. And MXI1::NUTM1 fusion was identified by next-generation sequencing (NGS). Herein, we introduce an unusual NUT carcinoma and describe the clinical, imaging, and pathological features. In addition, we briefly reviewed the published literature and discussed the possibility of primary gynecological NUT carcinoma.ConclusionsIdentifying a NUT carcinoma arising from the abdominopelvic cavity is essential, and we underscore the need for NUT testing in undifferentiated malignant neoplasms that appear in this clinical setting. Although it is unclear from which origin this tumor arose, proper classification is essential for treatment planning.

Primary Nuclear Protein in Testis (NUT) Carcinoma of the Lung: Clinical, Genetic, and Pathological Characterization

“…This rare malignancy can manifest along the entire length of the body's midline, with half of the cases typically originating in the upper aerodigestive tract and thorax, and roughly 40% in the head and neck region [9]. However, cases have been reported outside the midline, including the lung, thyroid, ovarian, and parotid gland [10][11][12][13]. The prognosis for NC is notably poor, with a median overall survival (OS) of 6.5 months and a 2-year OS rate of approximately 17% [8].…”

Exploring cytologic features and potential diagnostic challenges of metastatic NUT carcinoma to the parotid gland: A case report and a comprehensive literature review

“…While NC can occur at any age, it mainly affects children and young adults, with a median age at diagnosis of 23.6 years 3 . While the upper aerodigestive tract along the midline (head, neck, thorax, and mediastinum) is commonly reported as the primary site of NC, subsequent cases have emerged in diverse locations such as the lung, salivary glands, pancreas, bladder, kidney, adrenal glands, and ovary 10–12 . This broad distribution introduces additional challenges in its recognition and management.…”