Gastrointestinal bleeding in infantile hemangioma: a complication of segmental, rather than multifocal, infantile hemangiomas.

OBJECTIVE: To highlight an association of facial segmental hemangiomas with gastrointestinal bleeding in infants with infantile hemangiomas. STUDY DESIGN: We conducted a multicenter retrospective case series study. RESULTS: Ten female patients met study inclusion criteria; 8 were Caucasian, 9 had a facial segmental hemangioma, and 9 cases met the diagnostic criteria for definitive posterior fossa malformations, hemangioma, arterial lesions, cardiac anomalies/coarctation of the aorta and eye abnormalities syndrome with abnormalities of the aorta and cerebral arteriopathy. Severe gastrointestinal bleeding requiring blood transfusion occurred in 9 cases, with age at presentation of gastrointestinal bleeding ranging from 8 days to 6 months. When detected, the location of the hemangioma in the small intestine was in the distribution of the superior mesenteric artery. More than one agent was required to control the gastrointestinal bleeding, including oral or intravenous steroids, vincristine, oral propranolol, interferon, and resection of the small intestine. All cases needed ongoing support care with red blood cell transfusions. CONCLUSIONS: Gastrointestinal bleeding is a rare complication of true infantile hemangioma. The segmental pattern of the cutaneous hemangioma associated with gastrointestinal bleeding should suggest a segmental infantile hemangioma of the lower gastrointestinal tract.

Anatomic distribution of cervicofacial lymphatic malformations based on lymph node groups.

OBJECTIVES: To evaluate radiographic characteristics and to identify locations of cervicofacial lymphatic malformations in children based on known lymph node groupings. METHODS: Retrospective chart review of pediatric patients with cervicofacial lymphatic malformations who underwent imaging with magnetic resonance imaging (MRI), computed tomography (CT) or ultrasonography (US). Ninety charts were reviewed from November 2005 to June 2015. Demographic information and imaging characteristics were evaluated. RESULTS: Ninety children were included. The average age at presentation was 52 months (range, 1 day to 170 months). Imaging modalities were MRI in 73 (81%), CT in 7 (8%), US in 6 (7%), and multimodality imaging in 4 (4%) cases. Nearly half (49%) of lesions were found in the parotid and submandibular nodal group, 32% in the cervical group, and 19% in the midline face and oral cavity group. The lymphatic malformations were found on the left in 39 (43%) of cases, on the right in 30 (33%) of cases, and were bilateral in 21 (23%) cases. Nineteen (21%) lesions were macrocystic, twenty-two (24%) were microcystic, and forty-nine (49%) had mixed features. Mixed lesions were more likely to be extensive and involve multiple lymph node groups (P = 0.0005). Adjacent lymphadenopathy was present in 20 (22%) among all subjects, with an average size of 1.22 (± 1.92) cm in the short-axis. CONCLUSION: The results of this study demonstrate three lymph node groupings in which LM are commonly identified. The midline face and oral cavity lesions are predominantly microcystic, the parotid and submandibular lesions are predominately of mixed morphology, and the cervical lesions are predominately macrocystic and mixed. Further studies are needed to determine if such a classification system demonstrates clinically significant difference in disease progression and response to therapy.

BRAF V600E does not predict aggressive features of pediatric papillary thyroid carcinoma.

OBJECTIVES/HYPOTHESIS: This study aimed to review the prevalence of the BRAF V600E mutation in pediatric papillary thyroid carcinoma (PTC) and any possible association with aggressive tumor behavior. STUDY DESIGN: A retrospective chart review and post hoc BRAF V600E mutational analysis of archived tumor tissue. METHODS: Patients 0 to 18 years old who underwent surgery for PTC from 1999 to 2012 were selected for a retrospective chart review to assess for aggressive disease characteristics. Microdissection was performed on archived tumor tissue, which was analyzed for the BRAF V600E mutation by pyrosequencing. RESULTS: Archived tumor specimens were available for 19/27 pediatric patients who fit the inclusion criteria. Ages ranged from 2.8 to 18 years (median, 13.7 years). Thirteen patients (68.4%) had central neck metastases, eight (42.1%) had lateral neck metastases, and five (26.3%) had pulmonary metastases. The BRAF V600E mutation was present in seven patients (36.8%). There were 11 patients with classic PTC, seven with a follicular variant of PTC, and one with an oncocytic variant. Seven (63.6%) with classical PTC were BRAF V600E positive. All histologic variants were wild type. PTC histology significantly correlated with the BRAF mutation (P = .013). The BRAF mutation was associated with a lower metastases, age at diagnosis, completeness of resection, invasion, and size of the tumor score, which trended toward significance (P = .087). Presence of lymphatic or pulmonary metastases, tumor size, overall age, lymphovascular invasion, or extrathyroidal extension were not associated with BRAF V600E. Our results are combined with existing studies for a combined incidence of 28.4%. CONCLUSIONS: BRAF V600E mutations may be more prevalent than previously thought in pediatric patients with PTC, but do not correlate with aggressive disease characteristics.

Copy number variation analysis in 98 individuals with PHACE syndrome.

PHACE syndrome is the association of large segmental facial hemangiomas and congenital anomalies, such as posterior fossa malformations, cerebral arterial anomalies, coarctation of the aorta, eye anomalies, and sternal defects. To date, the reported cases of PHACE syndrome have been sporadic, suggesting that PHACE may have a complex pathogenesis. We report here genomic copy number variation (CNV) analysis of 98 individuals with PHACE syndrome as a first step in deciphering a potential genetic basis of PHACE syndrome. A total of 3,772 CNVs (2,507 duplications and 1,265 deletions) were detected in 98 individuals with PHACE syndrome. CNVs were then eliminated if they failed to meet established criteria for quality, spanned centromeres, or did not contain genes. CNVs were defined as "rare" if not documented in the database of genomic variants. Ten rare CNVs were discovered (size range: 134-406 kb), located at 1q32.1, 1q43, 3q26.32-3q26.33, 3p11.1, 7q33, 10q24.32, 12q24.13, 17q11.2, 18p11.31, and Xq28. There were no rare CNV events that occurred in more than one subject. Therefore, further study is needed to determine the significance of these CNVs in the pathogenesis of PHACE syndrome.