Recurrent primary endobronchial fetal rhabdomyoma: a case report and literature review

Abstract

Summary Fetal rhabdomyoma is an extremely rare benign rhabdomyoblastic tumor with myotube-like differentiation, mainly arising on mucosal surfaces of the head and neck region of both children and young patients, almost invariably definitively treated with surgical excision. Herein the case of a male adult suffering from a recurrent fetal rhabdomyoma primary involving the bronchial structures is reported, along with a detailed literature review. This is the first fetal rhabdomyoma described to originate in such a localization; furthermore, an 11-year interval period between the first lesion and the recurrent one has never been reported.

Fetal-Type Rhabdomyoma of the Cheek: A Conservative Management

“…Rhabdomyomas are rare benign mesenchymal tumors with skeletal muscle differentiation. Unlike most other soft tissue tumors, rhabdomyomas are strikingly outnumbered by their malignant counterpart (rhabdomyosarcomas), and they account only for 2% of all tumors with striated muscle differentiation [2,3]. They are divided in two groups based on their localization: cardiac rhabdomyomas, that occur almost exclusively in infants with Tuberous Sclerosis, and extracardiac rhabdomyomas.…”

“…Fetal rhabdomyomas have a benign biological behavior showing myotube-like differentiation, therefore resembling primitive skeletal muscle fibers during fetal development. They grow slowly, with little or no change in size or histologic features over time; therefore, complete excision is usually curative and recurrence after surgical removal is extremely rare [3]. Despite their rarity, fetal rhabdomyomas should always be of concern for pathologists, as they may often resemble embryonal rhabdomyosarcoma [2,3].…”

“…They grow slowly, with little or no change in size or histologic features over time; therefore, complete excision is usually curative and recurrence after surgical removal is extremely rare [3]. Despite their rarity, fetal rhabdomyomas should always be of concern for pathologists, as they may often resemble embryonal rhabdomyosarcoma [2,3]. We present a rare case of fetal cheek rhabdomyoma diagnosed in a 2 months-old boy who did not receive surgical excision of the lesion.…”

Adult extracardiac rhabdomyomas presenting as a slowly growing neck mass

“…The immunohistochemical findings of these lesions include positivity for muscle specific actin and desmin. Although the histological features are well-defined, many authors believe them to represent hamartomas rather than true neoplasm [5] , [6] , [7] . Recent literature on the cytogenetics of these tumors, however, are more suggestive of neoplastic etiology.…”

“…The tumors are more common in men than in women (up to 6:1) [3 , 5] . Recurrence may be as high as 42% [4] and in one case; three recurrences have been reported within a period of 35 years after primary resection [6] …”