SMARCB1 (INI1) Deficient Tumours of the Uterine Cervix: Report of Two Cases, Including One Associated With an NTRK Fusion.

IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY International Journal of Gynecological Pathology Pub Date : 2024-09-01 Epub Date: 2024-01-22 DOI:10.1097/PGP.0000000000001014
Rubina Razack, Jennifer L Butt, Isabelle Hostein, Valerie Velasco, Sabrina Croce, Carel Olory, Lili Fu, William D Foulkes, W Glenn McCluggage
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Abstract

Pathogenic variants (mutations) and other molecular events involving subunits of the SWItch/Sucrose Non-Fermentable chromatin remodelling complex are common in a wide variety of malignancies. Many of these neoplasms are characterized by undifferentiated morphology. They arise at a variety of sites in the female genital tract but have rarely been reported in the uterine cervix. We report 2 primary cervical neoplasms arising in young women (ages 28 and 29 yr) exhibiting loss of nuclear immunoreactivity with SMARCB1 (INI1). In one case, which had a mixture of epithelioid and spindle cells, molecular studies revealed no SMARCB1 pathogenic variant, but showed a SPECCL1::NTRK 3 fusion, in keeping with an NTRK fusion sarcoma. The second case exhibited rhabdoid morphology and molecular testing confirmed a SMARCB1 pathogenic variant (c.425 T>G:p.(Leu142Ter) which, interpreted in conjunction with the morphology and immunohistochemistry, resulted in classification as a proximal-type epithelioid sarcoma. To our knowledge, this is the first reported cervical neoplasm exhibiting a SMARCB1 pathogenic variant and the first NTRK fusion sarcoma showing SMARCB1 protein loss. We discuss the diagnostic challenges and complexities of the molecular findings.

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子宫颈 SMARCB1 (INI1) 缺陷肿瘤:两例报告,其中一例与 NTRK 融合有关。
涉及 SWItch/Sucrose Non-Fermentable 染色质重塑复合体亚基的致病变异(突变)和其他分子事件在多种恶性肿瘤中很常见。其中许多肿瘤的形态特征是未分化。这些肿瘤发生在女性生殖道的多个部位,但在子宫颈中却鲜有报道。我们报告了发生在年轻女性(28 岁和 29 岁)身上的 2 例原发性宫颈肿瘤,这 2 例肿瘤均表现出 SMARCB1(INI1)核免疫反应缺失。其中一个病例混合有上皮样细胞和纺锤形细胞,分子研究显示没有SMARCB1致病变体,但显示有SPECCL1::NTRK 3融合,与NTRK融合肉瘤一致。第二个病例表现为横纹肌样形态,分子检测证实其存在 SMARCB1 致病变体(c.425 T>G:p.(Leu142Ter)),结合形态学和免疫组化结果,该病例被归类为近端型上皮样肉瘤。据我们所知,这是第一例出现SMARCB1致病变异的颈椎肿瘤,也是第一例出现SMARCB1蛋白缺失的NTRK融合肉瘤。我们讨论了诊断的挑战和分子发现的复杂性。
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来源期刊
CiteScore
3.90
自引率
12.50%
发文量
154
审稿时长
6-12 weeks
期刊介绍: International Journal of Gynecological Pathology is the official journal of the International Society of Gynecological Pathologists (ISGyP), and provides complete and timely coverage of advances in the understanding and management of gynecological disease. Emphasis is placed on investigations in the field of anatomic pathology. Articles devoted to experimental or animal pathology clearly relevant to an understanding of human disease are published, as are pathological and clinicopathological studies and individual case reports that offer new insights.
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