Laryngeal embryonal rhabdomyosarcoma in an adult - A case presentation in the eyes of geneticists and clinicians

Abstract

1. AbstractBackgroundRhabdomyosarcoma is a solid tumor, resulting from dysregulation of the skeletal myogenesis program. For rhabdomyosarcomas (RMS) with a predilection for the head and neck, genitourinary tract, extremities, trunk, retroperitoneum, the larynx is still an unusual site. Till now only several cases of this laryngeal tumor have been described in world literature in the adult population. The entire spectrum of genetic factors underlying RMS development and progression is unclear until today. Multiple signaling pathways seem to be involved in ERMS development and progression.Case presentationIn this paper we report an interesting RMS case in which the disease was located within the glottic region. We report an embryonal rhabdomyosarcoma of the larynx in 33 year-old man. After unsuccessful chemotherapy hemilaryngectomy was performed. In follow up CT no signs of recurrence were found. Recently patient is recurrence free for 62 months.ConclusionsConsidering the histological diagnosis and the highly aggressive nature of the lesion for optimal diagnosis positron electron tomography (PET) and computerized tomography (CT) of the neck and thorax should be performed. At this time surgical treatment with adjuvant radiotherapy seems to be the treatment of choice for this disease. Rhabdomyosarcoma of the larynx has a better prognosis than elsewhere in the body, probably because of its earlier recognition and accessibility to radical surgery.

Failed organ preservation strategy for adult laryngeal embryonal rhabdomyosarcoma

“…Embryonal rhabdomyosarcoma of the adult larynx has been poorly described, with only 4 cases identified in the literature to our knowledge [1,2,6,7]. In general, it is a poorly described lesion that should be managed aggressively via a multi-disciplinary approach, with strong consideration for total laryngectomy if necessary to obtain clear margins when organ preservation surgery, partial laryngectomy, is not feasible.…”

“…Previous authors have suggested a range of therapeutic modalities for embryonal rhabdomyosarcoma of the adult larynx (Table 1). A recent case describes a 33 year old male who presented with hoarseness and ultimately required a vertical hemilaryngectomy due to lack of regression despite induction and concommitant chemoradiation with VAC and 7000 cGy over 6 weeks [2]. Alternatively, other authors describe a case of embryonal rhabdomyosarcoma in the submucosa of the ventricular band that responded completely to cisplatin, vincristine, doxorubicin, and cyclophosphamide with radiation following induction chemotherapy [1].…”

“…Specific pathways involved in the degeneration of these mesodermal sarcomas have not been fully elucidated, and the rarity of these lesions has limited the available information regarding these tumors [5]. Other authors have therefore called for increased reporting of laryngeal embryonal rhabdomyosarcomas [2]. This case highlights the difficulty of managing adult patients with an organ sparing strategy when a specific subsite, the interarytenoid muscle, is involved.…”

“…Embryonal rhabdomyosarcoma is a rare tumor, which is usually described in children [1][2][3]. While it is extremely rare to find this tumor in adults, involvement of the larynx has been described in an even more limited fashion, which leads to difficulty in management decisions.…”

“…Genetically, tumorigenesis has been suggested to involve pathways of cell cycle, cell adhesion, and signaling [2]. Specific pathways involved in the degeneration of these mesodermal sarcomas have not been fully elucidated, and the rarity of these lesions has limited the available information regarding these tumors [5].…”