Gaffey M J, Mills S E, Boyd J C
Division of Anatomic Pathology, University of Virginia Health Sciences Center, Charlottesville 22908.
Am J Surg Pathol. 1994 Dec;18(12):1254-60. doi: 10.1097/00000478-199412000-00009.
The occurrence of an aggressive papillary middle ear/temporal bone tumor (APMET) and a benign adnexal papillary tumor of probable mesonephric origin (APMO) in a patient with von Hippel-Lindau disease (VHL) is reported. Histologically, both tumors were identical to papillary cystadenomas of the epididymis and broad ligament of probable mesonephric derivation. A comprehensive literature review showed that including the current case, seven of 46 (15%) documented cases of APMET and four of four (100%) cases of APMO arose in patients with VHL. Given an estimated minimum birth incidence of 1/36,000, a one-sample test of binomial proportion using the exact method establishes that the association of APMET and APMO with VHL is highly significant (p = 1.4 x 10(-24) and 1 x 10(-18), respectively). The data indicate that APMET and APMO may represent major visceral manifestations of VHL. Accordingly, in the presence of one of these tumors strong consideration should be given to the diagnosis of VHL, given either the presence of another major component of VHL or documentation of VHL in at least one consanguineous relative.
报告了1例患有冯·希佩尔-林道病（VHL）的患者发生侵袭性中耳/颞骨乳头状瘤（APMET）和可能起源于中肾的良性附件乳头状瘤（APMO）的情况。组织学上，这两种肿瘤均与可能起源于中肾的附睾和阔韧带乳头状囊腺瘤相同。一项全面的文献综述显示，包括本例在内，46例记录在案的APMET病例中有7例（15%），4例APMO病例中有4例（100%）发生在VHL患者中。鉴于估计的最低出生发病率为1/36,000，使用精确方法对二项式比例进行单样本检验确定，APMET和APMO与VHL的关联具有高度显著性（p值分别为1.4×10⁻²⁴和1×10⁻¹⁸）。数据表明，APMET和APMO可能是VHL的主要内脏表现。因此，在存在这些肿瘤之一的情况下，若存在VHL的另一个主要组成部分或至少一名近亲中有VHL的记录，则应高度考虑诊断为VHL。
