Uterine Leiomyosarcoma Associated With Leiomyoma With Bizarre Nuclei: Histology and Genomic Analysis of 2 Cases

Fischer, Jean Victoria; Mejia-Bautista, Melissa; Vadasz, Brian; Yin, Ping; Bulun, Serdar E.; Tanner, Edward J.; Lu, Xinyan; Wei, Jian‐Jun

doi:10.1097/pgp.0000000000000837

Cited by 5 publications

(7 citation statements)

References 31 publications

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“…10 , 48 Increasing evidence shows that LBN may represent a potential stage of malignant tumor progression. 17 , 72 Therefore, it is necessary to prevent the spread of tumor cells. For recurrent LBN, hysterectomy is the treatment of choice for patients that have completed their families and follow-up imaging should be carried out at least once a year.…”

Section: Discussionmentioning

confidence: 99%

“… 15 , 16 , 21 Recently, Fischer et al reported two cases of LBN that progressed to LMS. 17 Furthermore, molecular genetic studies have suggested that the morphological changes in LBN most likely reflect severe genomic abnormalities instead of simple degenerative alterations, which may represent a potential malignant stage of precancerous progression. 16 , 48 , 51 However, large-scale clinical trials are needed for further verification.…”

Section: Different Diagnostic Tools For Lbnmentioning

confidence: 99%

“… 72 Fischer et al reported two cases of LBN associated with LMS. 17 The first case described a gross and histologically clear transition between LBN and LMS components. Subsequent molecular analysis found that there were common CNAs and loss of heterozygosity (LOH) regions in LMS and LBN, and additional CNAs were observed in LMS.…”

Section: Treatment and Prognosismentioning

confidence: 99%

“…13,14 However, studies on selected genes or biomarkers indicate that LBN shares more molecular characteristics with LMS than with leiomyoma, leading to the hypothesis that LBN has the potential for subsequent malignant transformation. [15][16][17] The 2020 WHO classification defined LBN as a leiomyoma subtype with bizarre cells arranged in a multifocal to diffuse distribution in a background of typical leiomyoma. 3 The mitotic count is <5 mitoses/ 10 HPF of 0.55-mm diameter and 0.24-mm2 area.…”

Section: Introductionmentioning

confidence: 99%

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Leiomyoma with Bizarre Nuclei: A Current Update

Guo¹,

Li²,

Hu³

et al. 2022

IJWH

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Leiomyoma with bizarre nuclei (LBN), also known as symplastic leiomyoma, is a histological subtype of benign leiomyoma with bizarre cells and nuclear atypia. Differentiating LBN from other benign leiomyoma subtypes, uterine smooth muscle tumors of uncertain malignant potential (STUMP), or leiomyosarcoma (LMS) can be diagnostically challenging owing to overlapping features in clinical presentation and pathologic morphological analysis. The difficulty of distinguishing LBN from other lesions, especially from LMS, and the potential of LBN for subsequent malignant transformation make LBN an important topic of research. Herein, we review the definition, diagnosis, treatment, and prognosis of LBN. Histopathological examination is essential for distinguishing LBN from other diseases. Pathology sampling and morphological examination remain the key to diagnosis. The newly established ancillary immunohistochemical (IHC) and molecular genetic analysis can be useful tools for differential diagnosis. Furthermore, serum biomarkers and imaging examination may also be useful diagnostic tools. Attention should be paid to the differentiation between LBN and LMS because morphological diagnosis may still be challenging in some cases. Some IHC markers of LBN have been identified, which may be helpful for differential diagnosis. Furthermore, the use of IHC panels as diagnostic markers may be advocated. Molecular genetic studies suggest that some genes can aid with the differential diagnosis between LBN and LMS. However, increasing evidence support the idea that LBN and LMS are molecularly related, indicating that LBN may represent a potentially malignant stage of precancerous progression. At present, conservative treatment is recommended for primary LBN, especially for patients desiring to retain fertility, but close follow-up with imaging examinations is required.

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Section: Discussionmentioning

confidence: 99%

Section: Different Diagnostic Tools For Lbnmentioning

confidence: 99%

Section: Treatment and Prognosismentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Leiomyoma with Bizarre Nuclei: A Current Update

Guo¹,

Li²,

Hu³

et al. 2022

IJWH

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“…The differential diagnosis of uterine IMT. [15][16][17][18][19] so far, [23] and cases are needed to summarize the optimal management of uterine IMT.…”

Section: Tablementioning

confidence: 99%

Uterine inflammatory myofibroblastic tumor presented as abnormal uterine bleeding: Two cases report and literature review

et al. 2022

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Rationale: Inflammatory myofibroblastic tumor (IMT) is an extremely rare soft tissue neoplasm consisting of the proliferation of fibroblastic-myofibroblastic cells with inflammatory infiltrates. It is known to occur in many parts of the body and can generally present with benign or locally recurrent behavior. Anaplastic lymphoma kinase is a specific diagnostic marker for IMT, and approximately 50% of IMT patients have anaplastic lymphoma kinase gene rearrangements. Reports of the female genital tract are rare.Patient concerns: Two patients (a 32-year-old multigravida and a 22-year-old nullipara) visited our clinic because of abnormal uterine bleeding and a uterine mass.Diagnoses: Histopathological examination, immunohistochemical markers, and fluorescence in situ hybridization confirmed the presence of a rare uterine IMT.Interventions: The masses were completely resected via hysteroscopy. The multigravida recurred rapidly in terms of symptoms and images, whereas the nullipara was complaint-free during the follow-up period. Finally, the multigravida underwent hysterectomy and bilateral salpingectomies.Outcomes and lessons: Uterine IMTs can be easily overlooked because of their extremely low incidence rate and insufficient awareness among clinicians; however, uterine IMTs need to be considered in the differential diagnosis of uterine masses. Possible differences in the biological behavior of IMT may exist in different individuals.

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Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation

Fontanges,

Dubos,

Lesluyes

et al. 2024

Genes Chromosomes & Cancer

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A close relationship has been demonstrated between genomic complexity and clinical outcome in uterine smooth muscle tumors. We studied the genomic profiles by array‐CGH of 28 fumarate hydratase deficient leiomyomas and 37 leiomyomas with bizarre nuclei (LMBN) from 64 patients. Follow‐up was available for 46 patients (from three to 249 months, mean 87.3 months). All patients were alive without evidence of disease. For 51 array‐CGH interpretable tumors the mean Genomic Index (GI) was 16.4 (median: 9.8; from 1 to 57.8), significantly lower than the mean GI in LMS (mean GI 51.8, p < 0.001). We described three groups: (1) a group with FH deletion (24/58) with low GI (mean GI: 11 vs. 22,4, p = 0.02), (2) a group with TP53 deletion (17/58) with higher GI (22.4 vs. 11 p = 0.02), and (3) a group without genomic events on FH or TP53 genes (17/58) (mean GI:18.3; from 1 to 57.8). Because none of these tumors recurred and none showed morphological features of LMS we concluded that GI at the cut‐off of 10 was not applicable in these subtypes of LM. By integration of all those findings, a GI <10 in LMBN remains a valuable argument for benignity. Conversely, in LMBN a GI >10 or alteration in tumor suppressor genes, should not alone warrant a diagnosis of malignancy. Nine tumors were tested with Nanocind CINSARC® signature and all were classified in low risk of recurrence. We propose, based on our observations, a diagnostic approach of these challenging lesions.

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Uterine Leiomyosarcoma Associated With Leiomyoma With Bizarre Nuclei: Histology and Genomic Analysis of 2 Cases

Cited by 5 publications

References 31 publications

Leiomyoma with Bizarre Nuclei: A Current Update

Leiomyoma with Bizarre Nuclei: A Current Update

Uterine inflammatory myofibroblastic tumor presented as abnormal uterine bleeding: Two cases report and literature review

Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation

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