Metastatic Choriocarcinoma Masquerading as a Congenital Glabellar Hemangioma

Abstract

Infantile choriocarcinoma (ICC) is a rare, highly malignant form of gestational trophoblastic neoplasia. Rapid diagnosis and initiation of treatment are paramount in reaching a successful outcome. Patients with these tumors typically present with a triad of anemia, hepatomegaly, and precocious puberty. Cutaneous manifestations of ICC are extraordinarily rare with few documented cases. Here, we describe a male neonate who presented to our Dermatology clinic with a rapidly growing, markedly vascular glabellar mass associated with abnormal laboratory values suggestive of Kasabach-Merritt phenomenon. The initial clinical impression of infantile hemangioma led to an initial treatment with propranolol. However, the mass continued to enlarge and a biopsy was obtained. Histology revealed a high-grade, poorly differentiated carcinoma. A robust immunohistochemical battery demonstrated tumor reactivity with Glut-1, GATA3, Glypican-3, CAM5.2, and β-hCG establishing the diagnosis of metastatic choriocarcinoma. The diagnosis was further supported by the elevated serum β-hCG. In addition to the glabellar mass, imaging demonstrated tumor foci in the liver and lung. Clinical investigation of the mother revealed no evidence of disease.

Lingual Alveolar Soft Part Sarcoma in a 1-Year-Old Infant: Youngest Reported Case With Characteristic ASPSCR1-TFE3 Fusion

“…Indeed, many malignant diagnoses have been reported as being able to masquerade as infantile hemangiomas, including but not limited to congenital leukemia cutis, 6 metastatic neuroblastoma, 7 congenital self-healing reticulo-histiocytosis, 6 and metastatic choriocarcinoma. 8 For lesions within the oral cavity, studies report benign pathology in 84% to 99% of cases, 9 which mainly arise from the mesenchyme. A pyogenic granuloma (lobular capillary hemangioma) is a vascular lesion which can grow rapidly and bleed on palpation, and which may therefore have presented similarly to our case.…”

“…Indeed, many malignant diagnoses have been reported as being able to masquerade as infantile hemangiomas, including but not limited to congenital leukemia cutis, 6 metastatic neuroblastoma, 7 congenital self-healing reticulo-histiocytosis, 6 and metastatic choriocarcinoma. 8…”

Understanding and management of gestational trophoblastic disease

“…Choriocarcinomas are malignant trophoblastic tumors developing in the uterus from villous CTB cells 15, 32 . About 50% of all choriocarcinomas arise from a complete molar gestation, 25% following a normal pregnancy, and 25% after a spontaneous miscarriage or ectopic pregnancy 33 . Choriocarcinoma occurs in about 1 in 20,000 to 40,000 pregnancies in the United States and three to nine per 40,000 pregnancies in Southeast Asia and Japan 34 .…”