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Rare Benign Entities of the Breast - Myoid Hamartoma and Capillary Hemangioma.

ABSTRACT: Hamartomas can occur in different areas of the breast, but they are rarely found in the breast. Myoid hamartomas with smooth muscle cells of the type described here are particularly unusual. The pathogenesis of this benign entity with its tendency to growth and recurrence is not clear. Excision is the therapy of choice. Capillary hemangiomas are rare vascular malformations of the breast which, in contrast to cavernous hemangiomas, usually remain clinically occult. It is important to differentiate these benign findings from malignant angiosarcoma. The possible heterogeneities between myoid hamartoma and capillary hemangioma using current breast imaging methods for the differential diagnosis (high-resolution ultrasound, duplex sonography, shear wave elastography, digital mammography, minimally invasive intervention) are discussed together with an overview of the literature.

SUBMITTER: Schafer FK

PROVIDER: S-EPMC4168405 | biostudies-literature | 2012 May

REPOSITORIES: biostudies-literature

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Rare Benign Entities of the Breast - Myoid Hamartoma and Capillary Hemangioma.

Schäfer F K FK Biernath-Wuepping J J Eckmann-Scholz C C Order B M BM Mathiak M M Hilpert F F Strauss A A Jonat W W Schäfer P J PJ

Geburtshilfe und Frauenheilkunde 20120501 5

Hamartomas can occur in different areas of the breast, but they are rarely found in the breast. Myoid hamartomas with smooth muscle cells of the type described here are particularly unusual. The pathogenesis of this benign entity with its tendency to growth and recurrence is not clear. Excision is the therapy of choice. Capillary hemangiomas are rare vascular malformations of the breast which, in contrast to cavernous hemangiomas, usually remain clinically occult. It is important to differentiat ...[more]

PMID: 25298546

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Project description:ImportanceChoroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to glaucoma. Choroidal hemangioma and glaucoma often co-occur in patients with Sturge-Weber syndrome, a rare neurocutaneous disorder characterized by capillary malformations.ObjectiveTo determine whether the mutation found in most capillary malformations, GNAQ R183Q (c.548G>A), was present in the choroidal hemangioma of a patient with Sturge-Weber syndrome.Design, setting, and participantUsing laser-capture microdissection, choroidal blood vessels were isolated from paraffin-embedded tissue sections, and genomic DNA was extracted for mutational analysis. Choroidal sections were analyzed in parallel. A patient with choroidal hemangioma and Sturge-Weber syndrome who had undergone enucleation was analyzed in this study at Boston Children's Hospital. Negative controls were choroidal tissue from an eye with retinoblastoma and unaffected lung tissue; brain tissue from a different patient with Sturge-Weber syndrome served as a positive control. Infantile hemangioma was analyzed as well. Data were analyzed in 2018.Main outcomes and measuresThe mutant allelic frequency of GNAQ R183 and GNAQ Q209L/H/P was determined by droplet digital polymerase chain reaction on isolated genomic DNA. The infantile hemangioma marker glucose transporter-1 was visualized by immunofluorescent staining of tissue sections.ResultsThe GNAQ R183Q mutation was present in the patient's choroidal vessels (21.1%) at a frequency similar to that found in brain tissue from a different patient with Sturge-Weber syndrome (25.1%). In contrast, choroidal vessels from a case of retinoblastoma were negative for the mutation (0.5%), as was lung tissue (0.2%). The patient's choroidal tissue was negative for the 3 GNAQ mutations associated with congenital hemangioma and for the infantile hemangioma marker glucose transporter-1.Conclusions and relevanceThe results suggest that a more accurate description for choroidal hemangioma in patients with Sturge-Weber syndrome is choroidal capillary malformation. This finding may explain why propranolol, used to treat infantile hemangiomas, has been largely ineffective in patients with choroidal hemangioma. Further studies are needed to corroborate this finding.

Dataset Information

Rare Benign Entities of the Breast - Myoid Hamartoma and Capillary Hemangioma.

Publications

Rare Benign Entities of the Breast - Myoid Hamartoma and Capillary Hemangioma.

Similar Datasets

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