Primary Fallopian Tube Mullerian Adenosarcoma With Sarcomatous Overgrowth and a Previously Unreported MEIS1-NCOA2 Gene Fusion

Ribeiro, Renan Ribeiro e; Lewin, Eleanor; Hart, Jesse; Quddus, M. Ruhul; Hansen, Katrine

doi:10.1097/pgp.0000000000000777

Cited by 5 publications

(9 citation statements)

References 16 publications

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“…There has also been a recent case report of an adenosarcoma of the fallopian tube with sarcomatous overgrowth exhibiting a MEIS1-NCOA2/1 gene fusion (17). Adenosarcoma (with sarcomatous overgrowth) is easily excluded in our case since there was no benign glandular component or phyllodes-like architecture.…”

Section: Discussionmentioning

confidence: 72%

Spindle Cell Sarcoma of the Uterine Corpus With Adipose Metaplasia: Expanding the Morphologic Spectrum of Neoplasms With MEIS1-NCOA2 Gene Fusion

Kommoss

Kölsche

Mentzel

et al. 2021

International Journal of Gynecological Pathology

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We report a spindle cell sarcoma arising in the uterine corpus of a 26-yr-old patient. The patient underwent a simple hysterectomy and the uterine corpus contained a 9 cm tumor showing nodular and "finger-like" myometrial invasion. Histologically, the tumor was composed of a monomorphic population of atypical spindle cells which contained widespread foci of cytologically benign adipocytes. Immunohistochemistry revealed diffuse strong positivity for CD10, CD56, and CD99 and diffuse weak positive staining with ER and WT1 while smooth muscle markers, S100, TLE1, and cyclin D1 were negative. Total RNA sequencing identified an in-frame fusion between exon 6 of MEIS1 and exon 12 of NCOA2. Copy number analysis revealed few aberrations with no deletions or amplifications identified. No adjuvant therapy was given and the patient is disease-free 9 yr after initial diagnosis. This case represents the second report of a uterine sarcoma harboring a MEIS1-NCOA2/1 gene fusion and expands the morphologic spectrum of recently reported spindle cell sarcomas arising in the genitourinary tract harboring MEIS1-NCOA2/1 gene fusions. This is the first reported case of such tumors with an adipocytic component.

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Section: Discussionmentioning

confidence: 72%

Spindle Cell Sarcoma of the Uterine Corpus With Adipose Metaplasia: Expanding the Morphologic Spectrum of Neoplasms With MEIS1-NCOA2 Gene Fusion

Kommoss

Kölsche

Mentzel

et al. 2021

International Journal of Gynecological Pathology

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show abstract

Section: Discussionmentioning

confidence: 90%

“…While some tumors have low-grade morphology, others, like our case, clearly show high-grade features. Adenosarcoma-like morphology and adipose metaplasia are described in this group of tumors (9,10). Clinically, MEIS1::NCOA1/2 fusion sarcomas tend to have multiple local recurrences from months to years after the initial operation.…”

Section: Discussionmentioning

confidence: 97%

“…Five cases of sarcoma with MEIS1::NCOA2 fusion and 1 case with MEIS1::NCOA1 fusion involving gynecologic organs have been reported in the literature (9)(10)(11)15). Clinicopathologic features are summarized in Table 1 and immunohistochemical findings are summarized in Table 2.…”

Section: Review Of Published Cases Of Gynecologic Tumors With Meis1::...mentioning

confidence: 99%

“…Spindle cell sarcomas with MEIS1::NCOA2 gene fusion were first described in the kidney 8 and subsequently in the uterine corpus, vagina, scrotum, and para-rectal soft tissue 9–11 . Intraosseous/extraosseous spindle cell RMSs with the same fusion have also been described 11–13 .…”

Section: Introductionmentioning

confidence: 99%

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Uterine MEIS1::NCOA2 Fusion Sarcoma With Lung Metastasis: A Case Report and Review of the Literature

Xing

Meyer

Gross

et al. 2023

International Journal of Gynecological Pathology

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NCOA1/2 fusion sarcomas are a recently described novel entity arising in a variety of locations with a predilection for the genitourinary tract and gynecologic organs. Despite multiple locoregional recurrences, these tumors are thought to behave in a low-grade malignant manner. Here we report a uterine MEIS1::NCOA2 fusion sarcoma with lung metastasis. The patient was a 47-yr-old woman with a history of abnormal uterine bleeding who was found to have a myometrial mass confirmed by pathology to be uterine sarcoma. The tumor was predominantly composed of monotonous spindle cells with scant cytoplasm, crowded nuclei, and brisk mitotic activity, growing in a fascicular and streaming pattern. The morphologic and immunophenotypic features were nonspecific and a diagnosis of high-grade uterine sarcoma with a differential of leiomyosarcoma versus high-grade endometrial stromal sarcoma was rendered. At the 27-mo follow-up, the patient was found to have a lung metastasis consisting of a monotonous round cell sarcoma. A retrospective RNA-based and DNA-based next-generation sequencing of the primary uterine sarcoma revealed a MEIS1::NCOA2 gene fusion, a c.94G > C/p.D32H mutation in exon 3 of CTNNB1 gene, HMGA2, and CDK4 gene amplification, and an intermediate/marginal level of MDM2 gene amplification. Polymerase chain reaction-based molecular analysis further demonstrated that the MEIS1::NCOA2 gene fusion and CTNNB1 somatic mutation were also present in the lung metastasis. This case represents the first case of such gynecologic sarcoma with distant (lung) metastasis, and the second metastatic case among all reported MEIS1::NCOA1/2 fusion sarcomas, highlighting the malignant metastatic potential of this emerging entity. Our case also indicates that HMGA2/CDK4/ MDM2 region amplification and CTNNB1 somatic mutation might be recurrent genetic events in this rare sarcoma subtype.

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Novel NCOA2/3‐rearranged low‐grade fibroblastic spindle cell tumors: A report of five cases

Bakhshwin,

Armstrong,

Duckworth

et al. 2023

Genes Chromosomes & Cancer

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Spindle cell mesenchymal neoplasms are a diverse and often challenging diagnostic group. While morphological impression is sufficient for some diagnoses, increasingly immunohistochemical and even molecular data is required to render an accurate diagnosis, which can lead to the characterization of new entities. We describe five cases of novel mesenchymal neoplasms with rearrangements in the NCOA2 and NCOA3 genes partnered with either CTCF or CRTC1. Three tumors occurred in the head and neck (palate, auditory canal), while the other two were in visceral organs (lung, urinary bladder). All cases occurred in adults (range 33–86) with a median age of 42 and fairly even sex distribution = (male‐to‐female = 3:2). Morphologically, they had similar features consisting of monotonous, bland spindle to ovoid cells with fascicular and reticular arrangements in a myxohyaline to collagenous stroma. However, immunophenotypically they had essentially a null phenotype, with only two tumors staining partially for CD34 and smooth muscle actin. Targeted RNA sequencing detected in‐frame CTCF::NCOA2 (one case), CRTC1::NCOA2 (two cases), and CTCF::NCOA3 (two cases) fusions. Treatment was surgical resection in all cases. Local recurrence and/or distant metastases were not observed in any case (median follow‐up, 7.5 months; range, 2–19 months). Given their morphologic, immunohistochemical, and molecular similarities, we believe that these cases may represent an emerging family of low‐grade NCOA2/3‐rearranged fibroblastic spindle cell neoplasms.

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Primary Fallopian Tube Mullerian Adenosarcoma With Sarcomatous Overgrowth and a Previously Unreported MEIS1-NCOA2 Gene Fusion

Cited by 5 publications

References 16 publications

Spindle Cell Sarcoma of the Uterine Corpus With Adipose Metaplasia: Expanding the Morphologic Spectrum of Neoplasms With MEIS1-NCOA2 Gene Fusion

Spindle Cell Sarcoma of the Uterine Corpus With Adipose Metaplasia: Expanding the Morphologic Spectrum of Neoplasms With MEIS1-NCOA2 Gene Fusion

Uterine MEIS1::NCOA2 Fusion Sarcoma With Lung Metastasis: A Case Report and Review of the Literature

Novel NCOA2/3‐rearranged low‐grade fibroblastic spindle cell tumors: A report of five cases

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