Congenital Peripheral Primitive Neuroectodermal Tumor Refractory to Treatment

Abstract

The authors report an unusual case of an infant presenting with a congenital peripheral primitive neuroectodermal tumor (PPNET) of the left hand refractory to treatment. A newborn girl was born with a large bluish-red mass of 4.5 cm diameter protruding into the palm and the dorsum of the left hand. Tumor biopsy confirmed the diagnosis of PPNET. The initial metastatic workup for the detection of metastases was negative. Four cycles of chemotherapy according to CCSG 7881/POG 8850 regimen B were given. Despite this aggressive chemotherapy the tumor grew to involve the entire left hand. The left hand was amputated, and then two cycles of topotecan/cyclophosphamide were given. Five months later extensive metastases developed, involving the brain, lungs, liver, and skeleton, and the child died at the age of 2.5 years. PPNET presenting at birth is uncommon; presentation in the hand is unusual, and the fact that it did not respond to treatment is still more uncommon.

Congenital Askin tumor with favorable outcome: case report and review of the literature

“…Congenital ESFT are exceptional [5,[6][7][8][9][10][11][12][13][14][15][16][17][18][19][20], with only 1 case detected prenatally [7]. Initial diagnosis is often incorrect [12][13][14][15][16][17][18][19][20], owing to lack of peculiar features and low index of suspicion.…”

“…Initial diagnosis is often incorrect [12][13][14][15][16][17][18][19][20], owing to lack of peculiar features and low index of suspicion. In our patient, after 3 wrong diagnoses, final histology showed a small round cell tumor, and only positivity to NSE and CD99 on immunohistochemistry studies provided the precise diagnosis.…”

“…Therefore, results should be regarded with caution, especially if negative owing to the possibility of sampling necrotic or hemorrhagic regions. In congenital ESFT, prognostic factors are difficult to identify due their rarity, the variability in tumor site, and the differences in reported treatment and follow-up [6,[13][14][15][16][17][18][19][20].…”

Congenital Ewing sarcoma in retroperitoneum with multiple metastases

“…Congenital or neonatal solid tumors are rare, accounting for 2% of all childhood malignancies 5, and only nine cases of congenital ESFT has been reported (Table I) 6–15. The congenital ESFT develop in various parts of the body, although the most frequent sites are extremities.…”

“…Although ESFT occurs in almost every age group, more than half of the patients are adolescents with a median age of 15 years and EFST in neonates is extremely rare 1. Only a small number of cases developing ESFT at birth or during neonatal period have been reported so far 5–15. In this report, we describe a patient with congenital ESFT in the retroperitoneum invading the spinal canal and metastasizing into the cerebral hemisphere and the eyeball.…”