Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations
Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations
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DOI：
10.1097/pas.0000000000001442
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发表时间：
2020-06-01
影响因子：
5.6
通讯作者：
Foulkes, William D.
中科院分区：
文献类型：
--
作者：
McCluggage, W. Glenn;Apellaniz-Ruiz, Maria;Foulkes, William D.
DICER 1突变（体细胞或生殖细胞）与多种不常见的肿瘤相关，包括宫颈和泌尿生殖系统胚胎性横纹肌肉瘤（ERMS）。我们报告了一个原发性卵巢和2原发性输卵管ERMS发生在60岁，13岁和14岁，分别。3种肿瘤表现出相似的形态学外观，均为息肉样，含有水肿性细胞减少区和由小细胞组成的细胞增多灶，细胞质稀少，表现出横纹肌母细胞分化（结蛋白、肌细胞生成素、myoD 1阳性）。所有病例均存在细胞软骨，各有1例病例存在广泛的间变性、嗜酸性粒细胞球和骨/类骨质病灶。所有3例肿瘤均显示DICER 1突变;在1例输卵管病例中，患者存在生殖系突变，在其他2例病例中，DICER 1突变为体细胞突变。在所有情况下都发现了伴随的DICER 1“第二次命中”。在2例肿瘤中，存在SALL 4阳性腺体结构，我们推测这可能代表了一种不寻常的原始“化生”现象。我们的研究增加了文献ERMS在不寻常的网站与DICER 1突变。在这些部位出现的ERMS，特别是当它们含有软骨或骨/类骨质时，特别可能与DICER 1突变相关。病理学家应该意识到这一点，因为这些可能是DICER 1综合征患者的前哨肿瘤，确认生殖系突变有助于筛查个体和受影响的家族成员是否存在该综合征中发生的其他肿瘤。
DICER1 mutations (somatic or germline) are associated with a variety of uncommon neoplasms including cervical and genitourinary embryonal rhabdomyosarcoma (ERMS). We report a primary ovarian and 2 primary fallopian tube ERMS occurring in 60-, 13-, and 14-year-olds, respectively. The 3 neoplasms exhibited a similar morphologic appearance being polypoid and containing edematous hypocellular areas and hypercellular foci composed of small cells with scant cytoplasm exhibiting rhabdomyoblastic differentiation (desmin, myogenin, myoD1 positive). There was cellular cartilage in all cases and extensive foci of anaplasia, eosinophilic globules, and bone/osteoid in 1 case each. All 3 neoplasms exhibited DICER1 mutations; in 1 of the tubal cases, the patient had a germline mutation and in the other 2 cases, the DICER1 mutations were somatic. Accompanying DICER1 "second hits" were identified in all cases. In 2 of the neoplasms, SALL4-positive glandular structures were present which we speculate may represent an unusual primitive "metaplastic" phenomenon. Our study adds to the literature on ERMS at unusual sites associated with DICER1 mutations. ERMS arising at such sites, especially when they contain cartilage or bone/osteoid, are especially likely to be associated with DICER1 mutations. Pathologists should be aware of this as these may be the sentinel neoplasms in patients with DICER1 syndrome and confirming a germline mutation can facilitate the screening of the individual and affected family members for other neoplasms which occur in this syndrome.