Hereditary leiomyomatosis and renal cell carcinoma

Kidney cancer. Principles and practice. Second edition. Primo N. Lara, Jr. Eric Jonasch (Editors). Springer International Publishing (2015)

Reed syndrome was first described in 1958 by dermatologists who treated a group of patients with distinct cutaneous leiomyomas [26]. It was not until sometime later that clinicians discovered that many patients had an inherited form of both cutaneous and visceral leiomyomatosis as well as an aggressive form of RCC (Fig. 8.2), leading to the syndrome being renamed hereditary leiomyomatosis and renal cell carcinoma (HLRCC) [27–29]. In this autosomal dominant disease, genetic linkage studies localized the affected gene to 1p42.3-43 that encodes for fumarate hydratase (FH) [30, 31]. This enzyme is an integral part of the Krebs cycle, catalyzing a hydration reaction of fumarate to malate. HLRCC renal tumors demonstrate a loss of heterozygosity of the wild-type FH allele, shifting cellular metabolism toward aerobic glycolysis (the Warburg effect) [32, 33].

HLRCC presents with a unique constellation of signs and symptoms: leiomyoma (80%) (Fig. 8.3), early-onset uterine fibroids in women (90%), aggressive RCC (20%), and, less frequently, macronodular adrenal hyperplasia (8%) [34–36]. Initial descriptions of the associated RCC were papillary type 2, but HLRCC can present with a variety of different morphologic features. A common theme in their pathologic appearance includes eosinophilic nucleoli and perinuclear halos [33]. The International Society of Urologic Pathology now considers HLRCC renal tumors to be a distinct subtype [37].

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