Abstract
Perivascular epithelioid cell tumors (PEComas) include different morphological entities
originating from perivascular epitheliod cells. Their clinical behavior is not predictable,
and there are no strict histologic criteria for malignancy, although larger tumors
with infiltrative growth, hypercellularity, cellular atypia, atypical mitoses, and
necrosis generally have a malignant course. Pediatric PEComas are rare, with less
than 40 cases reported, mostly in children older than 5 years. We describe a case
of malignant PEComa of the ligamentum teres in a 2-year-old girl, characterized by
the occurrence of local relapse after primary treatment with chemotherapy and surgery
and poor response to imatinib mesilate and temsirolimus used after further analyses
confirmed p70S6K expression involved in the mTOR pathway. The girl was eventually
treated with a debulking surgical procedure and is now alive with disease 6 years
after diagnosis. Literature data of children affected by PEComas were also analyzed,
trying to identify pathologic characteristics that could predict their course and
therapeutic options. Histologically, they may be differentiated in 3 prognostic categories:
(1) benign, lacking unfavorable morphological markers; (2) with uncertain malignant
potential, carrying 1 unfavorable marker; and (3) malignant, with at least 2 unfavorable
markers. In the literature, 9% of cases occurred as a second malignancy probably because
of genomic instability related to treatment. Their different biology and the potential
value of targeted therapies remain to be explored. The indolent evolution in our patient
was similar to that reported in some other cases in the literature. In terms of treatment,
the present case suggests a minor response to temsirolimus compared with the adult
population.
Key words
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Article info
Publication history
Accepted:
February 2,
2012
Received in revised form:
January 9,
2012
Received:
August 29,
2011
Footnotes
☆There are no financial disclosures from any of the authors.
☆☆This manuscript was partially supported by a grant from Fondazione “Citta' della Speranza,” Padova, Italy.
Identification
Copyright
© 2012 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
