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Abstracts/Presentation Description
Jessica Berger1, Ella Sugo1
1Department of Anatomical Pathology, John Hunter Hospital, NSW, Australia.
Introduction
Chondromesenchymal hamartoma of the chest wall (CMHCW) is an extremely rare benign tumour, which is usually congenital and almost always diagnosed in infancy. These lesions can rarely be detected during third trimester fetal ultrasound. Patients may be asymptomatic or present with symptoms of respiratory insufficiency due to intrathoracic organ compression. Prenatal MRI may aid in diagnosis. The aetiology and pathogenesis of these tumours remains to be answered.
1Department of Anatomical Pathology, John Hunter Hospital, NSW, Australia.
Introduction
Chondromesenchymal hamartoma of the chest wall (CMHCW) is an extremely rare benign tumour, which is usually congenital and almost always diagnosed in infancy. These lesions can rarely be detected during third trimester fetal ultrasound. Patients may be asymptomatic or present with symptoms of respiratory insufficiency due to intrathoracic organ compression. Prenatal MRI may aid in diagnosis. The aetiology and pathogenesis of these tumours remains to be answered.
Case Presentation
We report a case of chondromesenchymal hamartoma of the chest wall that is unique in its presentation and clinical course. Bilateral echogenic thoracic masses were noted on routine 20-week morphology ultrasonography resulting in severe and progressive hydrops fetalis. A perinatal autopsy revealed the unusual pathological diagnosis. Exome sequencing for DICER1 was performed on our tumour, but failed to identify a mutation.
We report a case of chondromesenchymal hamartoma of the chest wall that is unique in its presentation and clinical course. Bilateral echogenic thoracic masses were noted on routine 20-week morphology ultrasonography resulting in severe and progressive hydrops fetalis. A perinatal autopsy revealed the unusual pathological diagnosis. Exome sequencing for DICER1 was performed on our tumour, but failed to identify a mutation.
Discussion
Outcomes of CMHCW are extremely varied. Clinical presentation depends on tumour size and growth impacting development and function of vital intrathoracic organs. The majority of prenatally suspected CMHCW survive birth and infancy. However, this is one of the only reported cases that resulted in severe and progressive second trimester fetal hydrops, without the possibility of life-saving intervention. In addition to the rarity of these lesions, aggressive radiological characteristics makes CMHCW a difficult diagnosis.
Due to histological similarities between CMHCW and nasal chondromesenchymal hamartoma, we tested our case for DICER1 mutations. Although a DICER1 mutation was not found in our instance, we suggest consideration of genetic testing in future cases of CMHCW. (240 words).
Statement of originality: This work is original and contributed to by the authors.
Outcomes of CMHCW are extremely varied. Clinical presentation depends on tumour size and growth impacting development and function of vital intrathoracic organs. The majority of prenatally suspected CMHCW survive birth and infancy. However, this is one of the only reported cases that resulted in severe and progressive second trimester fetal hydrops, without the possibility of life-saving intervention. In addition to the rarity of these lesions, aggressive radiological characteristics makes CMHCW a difficult diagnosis.
Due to histological similarities between CMHCW and nasal chondromesenchymal hamartoma, we tested our case for DICER1 mutations. Although a DICER1 mutation was not found in our instance, we suggest consideration of genetic testing in future cases of CMHCW. (240 words).
Statement of originality: This work is original and contributed to by the authors.
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Submitting/Presenting Authors
Dr Jessica Berger -