Malignant perivascular epithelioid cell tumor in children

Description of a case and review of the literature

Rita Alaggio, Giovanni Cecchetto, Guido Martignoni, Gianni Bisogno, Liang Cheng, Domenico Sperlì, Emauele S G D'Amore, Patrizia Dall'Igna

Research output: Contribution to journalArticle

8 Citations (Scopus)

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.

Original languageEnglish
JournalJournal of Pediatric Surgery
Volume47
Issue number6
DOIs
StatePublished - Jun 2012

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Perivascular Epithelioid Cell Neoplasms
Round Ligaments
70-kDa Ribosomal Protein S6 Kinases
Therapeutics
Mesylates
Second Primary Neoplasms
Genomic Instability
Mitosis
Neoplasms
Necrosis
Pediatrics
Recurrence
Drug Therapy
Growth
Population

Keywords

  • CCMMT
  • Epithelioid angiomyolipoma
  • PEComa
  • Sugar tumor

ASJC Scopus subject areas

  • Surgery
  • Pediatrics, Perinatology, and Child Health

Cite this

Malignant perivascular epithelioid cell tumor in children : Description of a case and review of the literature. / Alaggio, Rita; Cecchetto, Giovanni; Martignoni, Guido; Bisogno, Gianni; Cheng, Liang; Sperlì, Domenico; D'Amore, Emauele S G; Dall'Igna, Patrizia.

In: Journal of Pediatric Surgery, Vol. 47, No. 6, 06.2012.

Research output: Contribution to journalArticle

Alaggio, Rita ; Cecchetto, Giovanni ; Martignoni, Guido ; Bisogno, Gianni ; Cheng, Liang ; Sperlì, Domenico ; D'Amore, Emauele S G ; Dall'Igna, Patrizia. / Malignant perivascular epithelioid cell tumor in children : Description of a case and review of the literature. In: Journal of Pediatric Surgery. 2012 ; Vol. 47, No. 6.
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