Alveolar Rhabdomyosarcoma of the Neck in a Two-Months-Old Baby: Diagnostic Challenges
- Author:
NORDASHIMA AS
1
Author Information
1. Department of Pathology
- Collective Name:NORDASHIMA AS; AZYANI Y; AMIZATUL AINI S; BOEKHREN KB; PATHMANATHAN R; HAMIDAH A
- Publication Type:Case Reports
- Keywords:
alveolar;
FISH;
infant;
rhabdomyosarcoma
- From:Medicine and Health
2019;14(1):228-233
- CountryMalaysia
- Language:English
-
Abstract:
Rhabdomyosarcoma (RMS) is the most common soft tissue malignancy in children
and adolescents. The rarity of its occurrence in infant poses a great difficulty
in terms of diagnosis and management. Here, we report an aggressive case of
alveolar rhabdomyosarcoma in an infant who presented with neck swelling and
neurological complications. The Magnetic Resonance Imaging (MRI) revealed
a soft tissue swelling of the neck with intraspinal extension and spinal cord
compression, raising the possibility of a neurogenic or malignant nerve sheath
tumour. Histopathological examination revealed a primitive, small round cell
tumour with no rhabdoid differentiation. The clinical presentation, neurological
symptoms, tumor location and the histopathologic features were highly suggestive
of neuroblastoma. However, the tumour cells were positive for desmin with focal
and weak nuclear positivity for myogenin and MyoD1; immunoexpressions
which were in favour of rhabdomyosarcoma. Fluorescent in situ hybridization
(FISH) confirmed the presence of a translocation t(2;13)(q35;q14), supporting
the diagnosis of alveolar rhabdomyosarcoma. Despite chemotherapy, patient
succumbed to death after two months due to septic shock. Rhabdomyosarcoma
is highly aggressive mesenchymal neoplasm which may present with diagnostic
difficulty. This case highlights the importance of molecular studies in making an
accurate diagnosis so that appropriate chemotherapy may be instituted.
- Full text:12.2019my0105.pdf