Distant metastatic potential in primary renal sarcoma with <i>MEIS1–NCOA2</i> gene fusion

Quiroga‐Garza, Gabriela; Lajara, Sigfred; Burgess, Melissa; John, Ivy

doi:10.1111/his.14345

Cited by 5 publications

(7 citation statements)

References 2 publications

(1 reference statement)

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“…As this tumor showed nodular and “finger-like” myometrial invasion, diffuse strong positivity for CD10 and was negative for smooth muscle markers, understandably an original diagnosis of LGESS with adipose metaplasia was rendered in accordance with 2003 World Health Organisation (WHO) criteria 10. Interestingly, this tumor shows overlapping histologic and molecular features with 9 recently reported sarcomas, all harboring rearrangements involving MEIS1 and NCOA2/1 7–9. Almost all previously published tumors arose in the genitourinary tract (5× kidney, 1× uterine corpus, 1× vagina, 1× scrotum, and 1× para-rectal) and showed a morphologic spectrum from pure spindled to more ovoid primitive cells.…”

Section: Discussionmentioning

confidence: 70%

“…While one patient was reported to show no evidence of disease 9 mo after initial diagnosis, the remaining 6 cases showed local tumor recurrences. In 1 of the 6 cases, metastatic spread to the lungs was also reported (9). Although these follow-up data indicate a potential for aggressive behavior of sarcomas harboring a MEIS1-NCOA2/1 gene fusion, no death of disease has been reported to date.…”

Section: Discussionmentioning

confidence: 87%

“…Thus far, clinical follow-up has been reported in 7 spindle cell sarcomas with MEIS1-NCOA2/1 gene fusion (7)(8)(9). While one patient was reported to show no evidence of disease 9 mo after initial diagnosis, the remaining 6 cases showed local tumor recurrences.…”

Section: Discussionmentioning

confidence: 99%

“…Molecular testing has also resulted in improved and clinically meaningful refinement of established tumor entities such as uterine tumor resembling ovarian sex-cord tumor (6). Recently, recurrent MEIS1-NCOA2/1 gene fusions have been reported in few cases of what is believed to represent a novel sarcoma entity, usually involving the genitourinary tract (7)(8)(9). Histologically, these tumors show an undifferentiated spindle cell phenotype and are reported to follow a "lowgrade" clinical course.…”

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confidence: 99%

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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: 70%

Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

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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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“…Clinically, MEIS1::NCOA1/2 fusion sarcomas tend to have multiple local recurrences from months to years after the initial operation. Of 10 reported cases with follow-up information, 7 cases (70%) demonstrated local tumor recurrences (8,9,11,12,14,15), and of which, 1 case with primary kidney sarcoma showed rapid progression with biopsy-proven lung metastasis (14). Among gynecologic tumors, 3 of 4 cases with available follow-up had local recurrence (Table 1).…”

Section: Discussionmentioning

confidence: 99%

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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Mesenchymal Neoplasms of the Kidney and Perinephric Soft Tissue

Papke

2024

Surgical Pathology Clinics

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Distant metastatic potential in primary renal sarcoma with MEIS1–NCOA2 gene fusion

Cited by 5 publications

References 2 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

Mesenchymal Neoplasms of the Kidney and Perinephric Soft Tissue

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