Juvenile Xanthogranuloma Presenting as a Testicular Mass in Infancy: A Clinical and Pathologic Study of Three Cases

Abstract

Juvenile xanthogranulomas (JXG) is a histiocytic disorder whose most common clinical presentation is a solitary cutaneous nodule in a child under 5 years of age, but it has come to be recognized that solitary extracutaneous lesions may present in a number of sites, including the soft tissues and various organs. Involvement of the genitourinary tract has been documented in children with multifocal or systemic JXG. The current report describes our experience with 3 cases of JXG presenting as a solitary mass in the testicle of infants between 2.5 and 13 months without manifestations of JXG elsewhere. The masses were intratesticular and had an infiltrative pattern of interstitial growth by mononuclear, histiocyte-like cells with replacement of seminiferous tubules and involvement of the epididymis whose pattern resembled leukemic and lymphomatous involvement of the testis. Because extracutaneous lesions of JXG may have few or no Touton giant cells, immunohistochemistry is an important adjunct to the histopathologic diagnosis. One of the previous 2 cases in the literature of JXG of the testis recurred after partial resection without an orchiectomy. Neither of the 2 youngest patients has experienced a local recurrence of JXG elsewhere in excess of 1 year since the original orchiectomy. The oldest patient, who was treated with partial orchiectomy, remains free of recurrence after 3 months of follow-up. Though uncommon, JXG joins several other distinctive neoplasms presenting in the infantile testis.

Testicular and paratesticular tumors and tumor-like lesions in the first 2 decades

“…We are aware of five reported cases of testicular juvenile xanthogranuloma; four were in infants 2.5-13 months old, 204,205 and one occurred in a 17-year-old boy. 206 We saw one of the reported cases in consultation, which presented as an abdominal mass in a 6-month old with ectopic testes.…”

“…Our case lacked the Touton giant cells and well-developed lipidized cytoplasm that are often considered characteristic of this neoplasm, but this is well described in visceral or systemic examples compared to the much more common cutaneous examples, 207,208 and similar features have been identified in the other testicular cases. 204,206 The tumor has a diffuse arrangement of cells with pale, eosinophilic cytoplasm and uniform round to occasionally reniform nuclei with fine chromatin; occasional lymphocytes, plasma cells, and eosinophils may be admixed (Fig. 46).…”

The World Health Organization 2016 classification of testicular non‐germ cell tumours: a review and update from the International Society of Urological Pathology Testis Consultation Panel

“…Two other entities, juvenile xanthogranuloma (a histiocytic disorder of infants and young children) and haemangioma (a benign vascular tumour) are included under the miscellaneous tumours in the WHO 2016 classification (Figure J–L). Few examples of juvenile xanthogranuloma of the testis exist in the English‐language literature.…”

“…Touton giant cells can be identified in some cases. The immunoprofile includes diffuse CD68 positivity and S100 and CD1a negativity . In testicular cases, surgical resection is curative.…”

Multiple Juvenile Xanthogranuloma of the Eyelids

“…Extracutaneous JXGs in the central nervous system, lungs, heart, liver, testicles, bone marrow, and blood cells are rare [7,8,9,10,11,12]. Ocular involvement in patients with cutaneous JXG is the most common symptom in extracutaneous JXG [2,13,14,15].…”