[Incidental diagnosis of lymphangioleiomyomatosis in gynecological surgery-a case series].

Julia Müller, Blake Gilks, Jessica McAlpine, Grit Gesine Ruth Hiller, Anne Kathrin Höhn, Lars-Christian Horn
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Abstract

Background: Lymphangioleiomyomatosis (LAM) is a rare, slow progressing, low-grade neoplasia that primarily effects young women. The disease is well known for its pulmonary involvement with cystic destruction, but extra-pulmonary disease may occur. LAM is associated with mutations in the TSC 1 or TSC 2 genes and may develop sporadically or in the context of hereditary disease tuberous sclerosis complex (TSC). Incident LAM may represent the sentinel finding of the disease.

Objective: Raising awareness for rare extrapulmonary LAM lesions in retroperitoneum and pelvic cavity.

Methods: Data-based research was performed for LAM in gynecological surgical specimens. H&E-stained slides were re-examined, and immunohistochemical stains were re-evaluated. Clinical data were retrieved for the presence pulmonary LAM or TSC.

Results: A total of 13 cases were identified. The age of the patients ranged from 32 to 77 years, and 8/13 were ≤ 55 years. Two women had a history of pulmonary LAM and TSC. Most women underwent surgery for gynecological malignancy. On histological examination, 10/13 patients presented LAM in 1 to 9 lymph nodes with a lesion size of 0.5 to 12.0 mm, mainly located subcapsular or in the nodal parenchyma. Three of the 13 women showed extranodal involvement of the retroperitoneum, myometrium, and the hilum of the ovary. Immunohistochemically LAM was positive for HMB45, desmin, and smooth muscle actin.

Conclusion: LAM is a rare systemic disease that mainly involves the lungs. Nevertheless, extra-pulmonary manifestations may occur. It is important to report the incidental finding of even small foci of LAM within the pathology report. Incidental LAM may represent the sentinel lesion for pulmonary LAM and/or TSC.

【妇科手术中淋巴管平滑肌瘤病的偶然诊断-病例系列】。
背景:淋巴管平滑肌瘤病(LAM)是一种罕见、进展缓慢、低级别的肿瘤,主要影响年轻女性。该疾病以肺部病变伴囊性破坏而闻名,但也可能发生肺外病变。LAM与TSC 1或TSC 2基因的突变有关,可能是偶发的,也可能是遗传性疾病结节性硬化症(TSC)的发病背景。偶发性LAM可能代表疾病的前哨发现。目的:提高对腹膜后及盆腔少见肺外LAM病变的认识。方法:对妇科手术标本中的LAM进行数据研究。重新检查h&e染色玻片,重新评估免疫组织化学染色。检索肺部LAM或TSC的临床资料。结果:共确诊13例。患者年龄32 ~ 77岁,8/13≤ 55岁。两名妇女有肺LAM和TSC病史。大多数妇女接受手术治疗妇科恶性肿瘤。组织学检查,10/13例患者表现为1 ~ 9个淋巴结LAM,病变大小0.5 ~ 12.0 mm,主要位于包膜下或淋巴结实质。13名妇女中有3名显示结外累及腹膜后、子宫肌层和卵巢门。免疫组织化学LAM检测HMB45、desmin和平滑肌肌动蛋白阳性。结论:LAM是一种罕见的以肺部为主的全身性疾病。然而,可能出现肺外表现。在病理报告中报告偶然发现的小病灶是很重要的。偶发LAM可能代表肺部LAM和/或TSC的前哨病变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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