Leiomyosarcoma of the Soft Tissues in a Patient with Nevoid Basal-Cell Carcinoma Syndrome

Abstract

A 57-year-old man was admitted with complaints of progressive anorexia, weight loss and right flank pain. He had been treated for basal-cell carcinoma of the skin 19 years before. On physical examination, eight moles in the face, back and left thigh were found along with palmar pits. In addition, a painful induration in his right thigh was evident. Biopsy proved that six moles were basal-cell carcinomas and the thigh mass a high-grade leiomyosarcoma. Computed tomographs revealed multiple metastases in the lungs and the liver. The patient was treated with epirubicin, with partial response, and subsequently with ifosfamide. He died 17 months after diagnosis. Whereas the world literature records several cases of soft tissue tumors in patients with nevoid basal-cell carcinoma syndrome, this is the first report of a simultaneous occurrence of leiomyosarcoma and nevoid basal-cell carcinoma syndrome.

Gorlin's syndrome presenting with myolipoma of tongue base

“…However, as soft tissue tumours have previously been reported in Gorlin's syndrome patients, 14 it seems likely that this case represents yet another variant of this condition, being as it is an oncological syndrome associated with the loss of a tumour suppressor gene. It is of course possible that the present case of myolipoma represents no part of the spectrum of Gorlin's syndrome and is a coincidental finding in a patient with a preexisting diagnosis.…”

“…Other, less frequent clinical characteristics noted in Kimonis and colleagues' series of 82 patients 8 include calcification of the falx cerebri (79 per cent) and tentorium cerebelli (20 per cent), bridging of the sella turcica (68 per cent), abnormal frontal sinus aeration (18 per cent), bifid ribs (26 per cent; most commonly the third, fourth and fifth ribs), calcification of the nuchal ligament (18 per cent), fusion of vertebrae (10 per cent), hemivertebrae (15 per cent), polydactyly (4 per cent), 12 ovarian fibromas (17 per cent of the women), and meningiomas (5 per cent). Other features recorded include palmar or plantar pits, 8 schizophrenia and learning difficulties, 6 retinal hamartoma, 13 and soft tissue tumours such as leiomyosarcoma 14 . Five per cent of patients with the condition develop childhood medulloblastoma.…”

Primary cutaneous carcinosarcoma arising in a patient with nevoid basal cell carcinoma syndrome

“…The primary causative mutation in NBCC is in the PATCHED ( PTCH ) gene that resides on chromosome 9q 12,13 . In addition to numerous BCCs, other neoplasms have subsequently been reported in association with this interesting and complex syndrome 2–6 . Although various types of carcinomas and sarcomas have been described in association with NBCC, this is the first report to describe PCC occurring in a patient with NBCC.…”

“…It is well accepted that in NBCC, in addition to numerous BCCs, there is also an increased risk of developing other carcinomas and sarcomas 2–6 . If the collision theory is plausible, then it would not be surprising that an independent carcinoma and sarcoma can evolve in the same milieu.…”

“…This condition is characterized by a variety of developmental anomalies and neoplasms, most notably numerous BCC (Table 1). Other types of neoplasms associated with NBCC include rhabdomyosarcoma, 3 ovarian fibrosarcoma, 4 ovarian leiomyosarcoma, 5 medulloblastoma, 2 soft tissue leiomyosarcoma, 6 etc. We describe an unusual case of primary cutaneous carcinosarcoma (PCC) in a patient with NBCC.…”