Undifferentiated and dedifferentiated neoplasms of the female genital tract

Bennett, Jennifer A.; Oliva, Esther

doi:10.1053/j.semdp.2020.11.002

Cited by 6 publications

(6 citation statements)

References 147 publications

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“…We present an LG-ESS with sex cord-like differentiation and a PHF1-JAZF1 fusion with deletions flanking telomeric and centromeric loci neighboring We currently know that many tumors previously categorized as undifferentiated uterine sarcomas represent YWHAE or BCOR HG-ESS, IMT with highgrade features, NTRK sarcomas or SMARCA4 deficient sarcomas, among others (24)(25)(26)(27)(28)(29)(30)(31). Molecular characterization becomes particularly important in tumors that lack the typical morphologic features, such as those within the BCOR spectrum.…”

Section: Discussionmentioning

confidence: 99%

Low-grade Endometrial Stromal Sarcoma With Sex Cord-like Differentiation and PHF1-JAZF1 Fusion With Deletions: A Diagnostic Pitfall of JAZF1 FISH

Ordulu

Avril²,

Nardi³

et al. 2021

International Journal of Gynecological Pathology

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The molecular knowledge of endometrial stromal neoplasms has been rapidly increasing and is considered complementary to morphologic and immunohistochemical findings for better categorization of these tumors. The most common molecular alteration observed in low-grade endometrial stromal sarcomas is the JAZF1-SUZ12 fusion, whereas, low-grade endometrial stromal sarcoma with sex cord-like differentiation have been shown more commonly to have fusions involving PHF1. Herein, we present a low-grade endometrial stromal sarcoma with sex cord-like differentiation with a fluorescence in situ hybridization showing the apparent loss of one copy of JAZF1 5′ and 3′ signals, rather than the expected “break-apart” pattern seen in the setting of a JAZF1 fusion. The case was then further evaluated by chromosome microarray and RNA fusion analysis. Overall, the molecular findings supported a PHF1-JAZF1 fusion with deletions right before and after the JAZF1 locus, impairing probe binding and resulting in the unusual “deletion” pattern observed in the JAZF1 fluorescence in situ hybridization, which would not intuitively suggest a fusion involving JAZF1. This case illustrates the importance of integration of morphological and molecular findings as well as the limitations of fluorescence in situ hybridization in detecting fusions, particularly in the setting of more complex chromosomal alterations even though the fusion partners are well-known.

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Section: Discussionmentioning

confidence: 99%

Low-grade Endometrial Stromal Sarcoma With Sex Cord-like Differentiation and PHF1-JAZF1 Fusion With Deletions: A Diagnostic Pitfall of JAZF1 FISH

Ordulu

Avril²,

Nardi³

et al. 2021

International Journal of Gynecological Pathology

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“…The prognosis of dedifferentiated/undifferentiated endometrial carcinomas is dismal since patients often present with advanced-stage disease and response to conventional chemotherapy and radiation is at best minimally effective. 25 However, targeted therapy with immune checkpoint inhibitors may be beneficial in patients whose tumors are MMR deficient or harbor a POLE mutation. 26 In summary, we describe the cytological features of metastatic UEC derived from DEC.…”

Section: Case Presentationmentioning

confidence: 99%

Undifferentiated component of dedifferentiated endometrial carcinoma presenting as a “small round cell” malignancy in a mediastinal lymph node, mimicking small cell carcinoma

Balikani

Policarpio‐Nicolas

2023

Diagnostic Cytopathology

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Undifferentiated/dedifferentiated endometrial carcinoma is an uncommon malignant neoplasm of the endometrium that can present as a diagnostic challenge, especially in a metastatic setting. We present a case of a 70‐year‐old woman with a prior endometrial biopsy diagnosed as endometrioid carcinoma, FIGO Grade 2. Chest computerized tomography showed moderate to severe centrilobular emphysema with a 3 mm nodule in the right upper lobe and posterior mediastinal lymphadenopathy. Fine needle aspiration smears of the mediastinal lymph node showed predominantly single and loosely cohesive tumor cells with scant basophilic cytoplasm, prominent nuclear streaking, and molding. Inconspicuous nucleoli and mitotic figures were present. Immunohistochemical (IHC) stains showed the tumor cells were positive for CD56 and synaptophysin but negative for AE1/AE3, CAM5.2, CK7, CK20, TTF‐1, INSM1, chromogranin, CD99, HMB45, SOX10, EBV‐LMP1, and desmin. Flow cytometry was negative for lymphoma. Based on the overall cytologic findings and significant smoking history, a small cell carcinoma could not be excluded. Similar morphologic findings were identified on the corresponding lymph node biopsy. Because of the history of endometrial carcinoma, additional IHC stains (PAX 8, ER, and EMA) were done but were negative. However, the mismatch repair proteins revealed loss of MLH1 and PMS2 with retained MSH2 and MSH6 nuclear expression. Hence, a metastatic undifferentiated component of a dedifferentiated carcinoma from the patients' endometrial primary was favored and subsequently confirmed on the hysterectomy specimen.

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“…Ultimately, undifferentiated uterine sarcoma is a diagnosis we can arrive at after examination of the morphology, immunohistochemistry, and molecular profile does not result in the classification of the tumor into a known category. 1 As the name suggests, the features of the morphology and the immunostaining are defined by their lack of evidence for any cell differentiation. 2 Pathologists should be mindful of the true rarity of the diagnosis, and that rates of undifferentiated uterine sarcoma in the literature may not be truly representative, given the likely inclusion in reported series of other sarcoma subtypes.…”

Section: Dr Cummings: What Are the Pathological And Immunohistochemic...mentioning

confidence: 99%

Section: Dr Cummings: What Are the Pathological And Immunohistochemic...mentioning

confidence: 99%

Undifferentiated uterine sarcoma: a multidisciplinary challenge

Allanson

Cummings

Kuchel

et al. 2022

Int J Gynecol Cancer

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Undifferentiated and dedifferentiated neoplasms of the female genital tract

Cited by 6 publications

References 147 publications

Low-grade Endometrial Stromal Sarcoma With Sex Cord-like Differentiation and PHF1-JAZF1 Fusion With Deletions: A Diagnostic Pitfall of JAZF1 FISH

Low-grade Endometrial Stromal Sarcoma With Sex Cord-like Differentiation and PHF1-JAZF1 Fusion With Deletions: A Diagnostic Pitfall of JAZF1 FISH

Undifferentiated component of dedifferentiated endometrial carcinoma presenting as a “small round cell” malignancy in a mediastinal lymph node, mimicking small cell carcinoma

Undifferentiated uterine sarcoma: a multidisciplinary challenge

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