Basaloid Squamous Cell Carcinoma of the Uterine Cervix: Report of a Case With Molecular Analysis

Munkhdelger, Jijgee; Shimooka, Tomoko; Koyama, Yoshinori; Ikeda, Sadakatsu; Mikami, Yoshiki; Fukuoka, Junya; Hori, Takashi; Bychkov, Andrey

doi:10.1177/1066896921997132

Cited by 6 publications

(4 citation statements)

References 16 publications

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“…Finally, our results confirm how TRK inhibitors represent a significant therapeutic strategy for metastatic cancer patients harboring an NTRK gene fusion, and, thus, all the cancer patients harboring this molecular alteration should be evaluated for specific inhibitors [74]. Although these drugs are generally administered as a single-agent treatment in the metastatic setting, we found a cervical cancer patient treated with the combination of chemotherapy plus larotrectinib [30] and two pediatric patients treated with "adjuvant" maintenance larotrectinib after definitive surgical resection of a kidney sarcoma and anaplastic astrocytoma [38]. These reports are interesting because they focus on new potential strategies of TRK inhibitors' administration in terms of clinical setting (adjuvant vs. metastatic disease) and combinations (single agent vs. combined treatment).…”

Section: Summary Of Evidencesupporting

confidence: 73%

NTRK Gene Fusions in Solid Tumors and TRK Inhibitors: A Systematic Review of Case Reports and Case Series

Iannantuono

Riondino

Sganga

et al. 2022

JPM

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The approval of larotrectinib and entrectinib for cancer patients harboring an NTRK gene fusion has represented a milestone in the era of “histology-agnostic” drugs. Among the clinical trials that led to the approval of these two drugs, most of the enrolled patients were affected by soft tissue sarcomas, lung, and salivary gland cancer. However, as next-generation sequencing assays are increasingly available in the clinical setting, health care professionals may be able to detect NTRK gene fusions in patients affected by tumor types under or not represented in the clinical trials. To this aim, we systematically reviewed MEDLINE from its inception to 31 August 2022 for case reports and case series on patients with NTRK gene fusion-positive tumors treated with TRK inhibitors. A virtual cohort of 43 patients was created, excluding those enrolled in the above-mentioned clinical trials. Although our results align with those existing in the literature, various cases of central nervous system tumors were registered in our cohort, confirming the benefit of these agents in this subgroup of patients. Large, multi-institutional registries are needed to provide more information about the efficacy of TRK inhibitors in cancer patients affected by tumor types under or not represented in the clinical trials.

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Section: Summary Of Evidencesupporting

confidence: 73%

NTRK Gene Fusions in Solid Tumors and TRK Inhibitors: A Systematic Review of Case Reports and Case Series

Iannantuono

Riondino

Sganga

et al. 2022

JPM

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“…Finally, substandard FISH assay samples may also lead to NTRK3 false negatives. The types of gene rearrangements currently reported in the existing literature include TPM3-NTRK1[6, 8-10, 15], TPR-NTRK1[6, 9, 16], LMNA-NTRK1[6], EML4-NTRK3 [15,17,18], RBPMS-NTRK3[6], STRN-NTRK3 [19], SPECC1L-NTRK3 [9,20,21], DLG2-NTRK2 [22], etc., and among them, the most common type is TPM3-NTRK1 (11/23).…”

Section: Discussionmentioning

confidence: 99%

NTRK rearranged spindle cell neoplasm of the uterine cervix: a rare case report and literature review

Jiang,

Zhang,

et al. 2024

Preprint

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Background Neurotrophic tyrosine receptor kinase (NTRK) rearranged spindle cell neoplasm is an emerging group of molecularly defined rare soft tissue tumors, often presenting with a monotonous spindle cell morphology, infiltrative growth, and co-expression of S-100 and CD34 proteins by immunohistochemistry (IHC). Accurate diagnosis necessitates the combination of morphology, immunohistochemistry, and molecular test results, with next-generation sequencing (NGS) as the gold standard. Here, we present a rare case of NTRK rearranged spindle cell neoplasm of the uterine cervix and review the literature to highlight the current understanding of the diagnosis and treatment of the rare disease. Case presentation A 49-year-old perimenopausal woman presented with menorrhagia for more than a month. A biopsy of the cervix revealed a cervical spindle cell neoplasm with a tendency to be an isolated fibrous tumor. A total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed and the surgical pathology suggested NTRK rearranged spindle cell neoplasm, while NGS confirmed TFG-NTRK3 fusion gene. Postoperatively, the patient refused larotrectinib maintenance therapy for economic reasons and had no sign of recurrence or metastasis at 31 months of follow-up. Conclusion We presented the first case of cervical spindle cell neoplasm with TFG-NTRK3 gene rearrangement and retrieved 22 cases of NTRK rearranged spindle cell neoplasm of the uterine cervix from literature. The most prevalent type of gene fusion was TPM3-NTRK1, and almost all cases demonstrated S-100 and CD34 positivity by IHC. Surgery remains the initial treatment of choice and tyrosine receptor kinase (TRK) inhibitors may serve as a promising target therapy for patients with recurrence or metastasis disease.

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“…Preoperative imaging, when available, can show a boggy "fibroid" uterus or a discrete hypervascular enhancing lesion. When presented with a monomorphic small round cell lesion at virtually any Müllerian site, the diagnostic differential is broad-effective considerations in the lower genital tract include undifferentiated endometrial carcinoma, [62][63][64][65] SMAR-CA4-deficient uterine sarcoma, 62,65,66 endometrial stromal sarcoma, [66][67][68][69][70] undifferentiated uterine sarcoma, basaloid squamous cell carcinoma, 71 small cell neuroendocrine carcinoma, [72][73][74] synovial sarcoma, 75,76 Merkel cell carcinoma, 77 and acute lymphoblastic leukemia/lymphoma (Table 2). [78][79][80] Ewing sarcoma can express cytokeratins and neuroendocrine markers (synaptophysin, INSM1, CD56, rarely chromogranin); 11,[81][82][83] this was evidenced by 36% of our cohort positive for cytokeratins, and 60% for synaptophysin.…”

Section: Discussionmentioning

confidence: 99%

Ewing Sarcoma of the Female Genital Tract

Sharma,

Wepy,

Chapel

et al. 2024

American Journal of Surgical Pathology

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Ewing sarcoma is an uncommon neoplasm considered in the differential diagnosis of tumors with “small round cell” morphology, but its occurrence in the gynecologic tract has only been sporadically documented. Herein, we describe the largest cohort of Ewing sarcoma localized to the female genital tract to date, and emphasize their clinicopathologic resemblance to more common gynecologic neoplasms. Ewing sarcoma (n=21) was retrospectively identified from 5 institutions. The average patient age was 35 (range 6–61) years. Tumor sites included uterus (n=8), cervix (n=4), vulva (n=5), vagina (n=1), broad ligament (n=1), inguinal area (n=1), and pelvis (n=1). Nine of 18 cases in which slides were available for review demonstrated only classic round cell morphology, with the remainder showing a variable combination and prominence of variant ovoid/spindle or epithelioid appearance. Tumors showed diffuse membranous reactivity for CD99 (20/20) and were positive for NKX2.2 (8/8, diffuse) and cyclin D1 (7/7, of which 3/7 were patchy/multifocal and 4/7 were diffuse). They were negative for ER (0/6) and CD10 (0/6). Three cases were initially diagnosed as endometrial stromal sarcomas. EWSR1 rearrangement was confirmed in 20/21 by fluorescence in situ hybridization (n=15) and/or sequencing (n=8). Of the eight tumors that underwent sequencing, 6 harbored FLI1, 1 ERG, and 1 FEV as the fusion partner. Of 11 patients with available follow-up, 5 died of disease, 1 developed lung metastases and 5 are alive with no evidence of disease. Ewing sarcoma of the gynecologic tract is a rare, aggressive entity that shares some morphologic and immunohistochemical features with other more common gynecologic neoplasms. In addition to the typical round cell appearance, variant spindled/ovoid to epithelioid morphology may also be observed and should prompt consideration of this entity with appropriate immunohistochemical and/or molecular studies.

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Basaloid Squamous Cell Carcinoma of the Uterine Cervix: Report of a Case With Molecular Analysis

Cited by 6 publications

References 16 publications

NTRK Gene Fusions in Solid Tumors and TRK Inhibitors: A Systematic Review of Case Reports and Case Series

NTRK Gene Fusions in Solid Tumors and TRK Inhibitors: A Systematic Review of Case Reports and Case Series

NTRK rearranged spindle cell neoplasm of the uterine cervix: a rare case report and literature review

Ewing Sarcoma of the Female Genital Tract

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