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Alveolar rhabdomyosarcoma of the neck in a two-months-old baby: diagnostic challenges

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 swe...

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Main Authors: Nordashima Abd Shukor,, Azyani Y,, Amizatul Aini S,, Boekhren KB,, Pathmanathan R,, Hamidah A,
Format: Article
Language:English
Published: Pusat Perubatan Universiti Kebangsaan Malaysia 2019
Online Access:http://journalarticle.ukm.my/15230/1/22_ms0263_pdf_15742.pdf
http://journalarticle.ukm.my/15230/
http://www.medicineandhealthukm.com/toc/14/1
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spelling my-ukm.journal.152302020-09-21T06:42:35Z http://journalarticle.ukm.my/15230/ Alveolar rhabdomyosarcoma of the neck in a two-months-old baby: diagnostic challenges Nordashima Abd Shukor, Azyani Y, Amizatul Aini S, Boekhren KB, Pathmanathan R, Hamidah A, 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. Pusat Perubatan Universiti Kebangsaan Malaysia 2019 Article PeerReviewed application/pdf en http://journalarticle.ukm.my/15230/1/22_ms0263_pdf_15742.pdf Nordashima Abd Shukor, and Azyani Y, and Amizatul Aini S, and Boekhren KB, and Pathmanathan R, and Hamidah A, (2019) Alveolar rhabdomyosarcoma of the neck in a two-months-old baby: diagnostic challenges. Medicine & Health, 14 (1). pp. 228-233. ISSN 2289-5728 http://www.medicineandhealthukm.com/toc/14/1
institution Universiti Kebangsaan Malaysia
building Tun Sri Lanang Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Kebangsaan Malaysia
content_source UKM Journal Article Repository
url_provider http://journalarticle.ukm.my/
language English
description 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.
format Article
author Nordashima Abd Shukor,
Azyani Y,
Amizatul Aini S,
Boekhren KB,
Pathmanathan R,
Hamidah A,
spellingShingle Nordashima Abd Shukor,
Azyani Y,
Amizatul Aini S,
Boekhren KB,
Pathmanathan R,
Hamidah A,
Alveolar rhabdomyosarcoma of the neck in a two-months-old baby: diagnostic challenges
author_facet Nordashima Abd Shukor,
Azyani Y,
Amizatul Aini S,
Boekhren KB,
Pathmanathan R,
Hamidah A,
author_sort Nordashima Abd Shukor,
title Alveolar rhabdomyosarcoma of the neck in a two-months-old baby: diagnostic challenges
title_short Alveolar rhabdomyosarcoma of the neck in a two-months-old baby: diagnostic challenges
title_full Alveolar rhabdomyosarcoma of the neck in a two-months-old baby: diagnostic challenges
title_fullStr Alveolar rhabdomyosarcoma of the neck in a two-months-old baby: diagnostic challenges
title_full_unstemmed Alveolar rhabdomyosarcoma of the neck in a two-months-old baby: diagnostic challenges
title_sort alveolar rhabdomyosarcoma of the neck in a two-months-old baby: diagnostic challenges
publisher Pusat Perubatan Universiti Kebangsaan Malaysia
publishDate 2019
url http://journalarticle.ukm.my/15230/1/22_ms0263_pdf_15742.pdf
http://journalarticle.ukm.my/15230/
http://www.medicineandhealthukm.com/toc/14/1
_version_ 1678593699281371136
score 13.211869

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