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Brief Report |

Symptomatic Congenital Hemangioma and Congenital Hemangiomatosis Associated With a Somatic Activating Mutation in GNA11

Tracy Funk, MD1; Young Lim, BS2,3,4; Ann M. Kulungowski, MD5; Lori Prok, MD6,7; Timothy M. Crombleholme, MD, MA5; Keith Choate, MD, PhD2,3,4; Anna L. Bruckner, MD6,8
[+] Author Affiliations
1Department of Dermatology, Oregon Health & Science University, Portland
2Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut
3Department of Genetics, Yale University School of Medicine, New Haven, Connecticut
4Department of Pathology, Yale University School of Medicine, New Haven, Connecticut
5Division of Pediatric General, Thoracic, and Fetal Surgery, Department of Surgery, University of Colorado School of Medicine, Aurora
6Department of Dermatology, University of Colorado School of Medicine, Aurora
7Department of Pathology, University of Colorado School of Medicine, Aurora
8Department of Pediatrics, University of Colorado School of Medicine, Aurora
JAMA Dermatol. 2016;152(9):1015-1020. doi:10.1001/jamadermatol.2016.2365.
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Importance  Congenital hemangiomas are uncommon benign vascular tumors that present fully formed at birth. They are rarely associated with transient hematologic abnormalities, which are typically less severe than the Kasabach-Merritt phenomenon associated with kaposiform hemangioendotheliomas. Congenital hemangiomas are typically solitary and have not been reported to occur in a multifocal, generalized pattern.

Objective  To describe a male infant born with an unusual, large vascular mass complicated by anemia, thrombocytopenia, and disseminated intravascular coagulopathy, as well as innumerable small vascular papules in a generalized cutaneous distribution.

Design, Setting, and Participant  This case report is a descriptive observation of the results of clinical, pathologic, and genetic studies performed in a single male infant observed for 2 years (May 2013 to June 2015) for vascular anomalies at a tertiary care referral center.

Main Outcomes and Measures  Histopathologic, immunohistochemical, and genetic study results of tumor specimens and saliva.

Results  Careful pathologic study of 3 tumor specimens revealed similar lobular proliferations of bland endothelial cells. Lesional vessels did not express GLUT1 or the lymphatic marker D2-40, whereas WT1 was expressed. A somatic c.A626C, p.Q209P mutation in the GNA11 gene was identified in tumoral tissue.

Conclusions and Relevance  These findings support a unifying diagnosis of congenital hemangioma for these vascular tumors. To date, this is the first-reported case of a hemangiomatosis presentation of congenital hemangioma. In addition to highlighting this novel phenotype, this case indicates the rare association of congenital hemangioma with hematologic abnormalities and verifies somatic activating mutations as the underlying cause of congenital hemangioma.

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Figure 1.
Clinical Findings

Infant before excision of congenital hemangioma on the back showing dorsal (A) and right lateral (B) views, as well as several small, red to violaceous vascular papules on the legs (C). D, The patient is seen as a toddler with persistence of innumerable vascular papules on the entire body. E, A closer view of the leg is shown.

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Figure 2.
Representative Histologic Findings From a Papule Biopsied at 15 Months of Age Consistent With Congenital Hemangioma

A, Hematoxylin-eosin stains showing lobular groups of dilated vessels in the superficial and deep dermis (original magnification ×4). B, immunohistochemistry showing D2-40 expression is negative in lesional vessels (original magnification ×20). C, WT1 is strongly expressed in the deep dermal vessels (original magnification ×20). D, Lesional endothelial cells are GLUT1 negative, whereas erythrocytes and normal vessels are positive (original magnification ×20).

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Figure 3.
Genetic Studies

A, Direct Sanger sequencing was performed to verify the presence of a somatic p.Q209P mutation in tissue (right) and the absence of mutation in saliva (left). B, Integrated genome viewer was used to visualize exome sequencing reads. The histograms on the top of each panel represent the total coverage for individual base, with each horizontal gray line representing an individual 74–base pair paired read. Vertical black bars designate the c.A626, p.Q209 locus. Of 37 reads covering this region in tissue (top), 26 (70%) were nonreference calls. A total of 60 reads obtained in saliva DNA indicate 100% reference reads, suggesting no mutation in the germline (bottom).

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