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Inicio Revista Española de Cirugía Ortopédica y Traumatología (English Edition) Tibial perivascular epithelioid cell tumour (PEComa). A case report and literatu...
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Vol. 63. Núm. 3.
Páginas 239-245 (mayo - junio 2019)
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Vol. 63. Núm. 3.
Páginas 239-245 (mayo - junio 2019)
Case report
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Tibial perivascular epithelioid cell tumour (PEComa). A case report and literature review
Neoplasia de células epiteloides perivasculares (PEComa) tibial. Reporte de un caso y revisión de la literatura
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R. Técualt-Gómez
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dromeotecualt@hotmail.com

Corresponding author.
, A. Atencio-Chan, R.A. Amaya-Zepeda, A.G. Cario-Méndez, R. González-Valladares, J.H. Rodríguez-Franco
Hospital de Ortopedia Dr. Victorio de la Fuente Narváez, Instituto Mexicano del Seguro Social, Mexico City, Mexico
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Table 1. Clinical characteristics of 12 primary bone PEComa.
Abstract
Introduction

Perivascular epithelioid cell (PEC) is a cell type constantly present in a group of tumours including angiomyolipoma (AML), clear-cell “sugar” tumour (CCST) of the lung and extrapulmonary sites, lymphangioleiomyomatosis (LAM), and clear-cell tumours of other anatomical sites. It has morphologic distinctive features: epithelioid appearance with a clear to granular cytoplasm, a round to oval, centrally located nucleus and an inconspicuous nucleolus. Immunohistochemically, PEC expresses myogenic and melanocytic markers. Eleven cases of primary bone PEComa presentation have been described since 2002.

Objective

To report a case of primary bone perivascular epithelioid cell tumour.

Case report

24 year-old male presented with pain. X-ray revealed an osteolytic lesion at right proximal tibia with soft tissue extension. Evaluation of slides identified a bony perivascular epithelioid cell tumour without immunohistochemical study confirmation.

Results

Patient was treated by surgical excision and adjuvant chemotherapy (epirubicin/cysplatin). After two years of follow-up the patient remains disease free.

Conclusions

This is the first-case report in Latin America. Immunohistochemical stains were negative and we believe it may be due to non-described ethnic variations.

Keywords:
Perivascular epithelioid cell tumour
Bone
Tibia
Resumen
Introducción

La célula perivascular epiteloide (PEC) es un tipo celular constante presente en un grupo de tumores que incluyen el angiomiolipoma, tumores «de azúcar» de células claras pulmonares y de sitios extrapulmonares, linfangioleiomiomatosis, entre otros. Las características de la PEC incluyen: apariencia epiteloide con citoplasma claro agranular, un núcleo central redondo a oval y un nucléolo discreto además de expresar marcadores inmunohistoquímicos únicos. Únicamente han sido descritos 11 casos de presentación ósea primaria desde su primer reporte en 2002.

Objetivo

Presentar el caso de un tumor de células perivasculares epiteloides óseo primario.

Reporte de caso

Varón de 24 años de edad con dolor de un año de evolución y lesión lítica de tibia proximal derecha y extensión a partes blandas. Diagnóstico histológico de tumor de células perivasculares epiteloides óseo e inmunohistoquímica negativa.

Resultados

Seguimiento de 2 años después del tratamiento con quimioterapia adyuvante (epirrubicina/cisplatino) y de la resección en bloque; el paciente se encuentra libre de enfermedad.

Conclusiones

Este es el primer caso de tumor de células perivasculares epiteloides óseo primario reportado en Latinoamérica. No encontramos los marcadores inmunohistoquímicos y creemos que esto puede deberse a variaciones étnicas no descritas.

Palabras clave:
Tumor de células perivasculares epiteloides
Óseo
Tibia
Texto completo
Introduction

Perivascular epithelioid cell (PEC) is a cell type constantly present in a group of tumours which includes angiomyolipoma (AML), clear-cell “sugar” tumour (CCST) of the lung and extrapulmonary sites, lymphangioleiomyomatosis (LAM), melanocytic clear-cell tumour of falciform ligament and round ligament and rare clear-cell tumours of other anatomical sites.1

PECs were first described by Apitz in 19432; and Masson reported them as “abnormal myoblasts” in renal AML in his book.3 However, the term perivascular epitheloid cell was termed by Bonetti et al. in reference to epitheloid lesions with clear/acidophyl cytoplasm and perivascular distribution.4

The distinctive characteristics of the PEC include the epitheloid appearance with clear nongranular cytoplasm, a round to oval central nucleus and discreet nucleolus. This expresses myogenic and melanocytic immunohistochemical markers including HMB45, HMSA-1, MelanA/Mart 1, Mitf, actin and rarely desmin and they are associated with tuberous sclerosis. Doubts exist regarding the histogenesis of the perivascular epitheloid cell tumour of epitheloid AML definition and the identification of histological malignancy criteria.1,5

The World health Organisation has defined the perivascular epithelioid cell tumour (PEComa) as a “mesenchimatous tumour composed of perivascular epitheloid cells with distinctive immunohistochemical characteristics”. PEComa is now a widely accepted entity. Notwithstanding, some authors doubt of its existence as a distinctive tumour.1

PEComas are considered to be ubiquitous tumours and have been described in different organs, including mainly kidney, bladder, prostate, uterus, ovary, vulva, vagina, lung, pancreas and liver. Rarely have they been described in the bone, which is among other less common anatomical sites.1

Clinical case

Informed consent was obtained from the patient and no identifying data were obtained.

A male aged 24 years with a histological diagnosis of PEComa, presented with pain and a progressively increasing volume of the right proximal tibia of one year onset. The patient had no remarkable family or hereditary personal history of importance and laboratory tests were found to be without normal limits. No changes to calcium metabolism were identified.

In plain X-rays (Fig. 1) a metaphysis epiphyseal lytic lesion was found of the right proximal tibia, with no periostic reaction and with extension to soft tissue in the anteromedial and posterior regions of the leg.

Figure 1.

Plain X-rays. An eccentric medial meta-epiphysis lytic lesion in the proximal tibia was determined, with extension to soft tissues.

(0.08MB).
Source: clinical file.

As part of the study protocol in the patient with a suspected osteo tumour incision, biopsy was performed, where the presence of a clear-cell malignant tumour was reported with cohesive epitheloid appearance around the vessels, clear granular cytoplasm and prominent nucleolus (PEComa morphology) (Fig. 2). The immunohistochemical report revealed: cytokeratin 8/18 (–), epithelial membrane antigen (–), HMB 45 (–), PAX-2 (–), renal carcinoma antigen (–), smooth muscle actin (–), microphthalmia transcription factor (–), S-100 (–), CD 99 (–), Melan A (–), PAX-8 (–), CD 117 (–).

Figure 2.

Histopathological slice. (A) Layers of epitheloid cells with predominantly granular cytoplasm are observed, a central hyperchromatic nucleus and prominent nucleolus around the vascular spaces. Areas of haemorrhaging. Haematoxylin–Eosin ×20. (B) Layers of epitheloid cells of clear cytoplasm and in some cases vacuolated cells were observed with a central hyperchromatic nucleus, around vascular spaces. Haematoxylin–Eosin ×40.

(0.37MB).
Source: clinical file.

The patient continued with neo adjuvant chemotherapy treatment with epirrubicin/cisplatin for 3 cycles with an adequate response (tumour necrosis>90%), and an en bloc resection was therefore performed on the proximal tibia with wide surgical margins (Fig. 3) and skeletal reconstruction with prosthesis (GMRS Stryker proximal tibia, cemented, Mahwah, NJ) (Fig. 4). The pathological study of the surgical specimen reported tumour necrosis of 98% and post chemotherapy changes.

Figure 3.

Surgical specimen.

(0.22MB).
Source: clinical file.
Figure 4.

X-ray immediately after surgery. Megaprothesis in knee.

(0.06MB).
Source: clinical file.

At the 24 month check up the patent was alive, with no further tumour disease and no added complications.

Discussion

Primary bone PEComa is rare and few cases have been reported in the literature.5Table 1 enumerates the cases which have been reported up until now.5–12

Table 1.

Clinical characteristics of 12 primary bone PEComa.

Author  Year  Follow-up  Status  Sex/age  History  Site  Extra bone  X-rays  Histology  Immunohistochemistry  Behaviour  Treatment  Recurrence 
Insabato et al.6 (one case)  2002  12 months  AWNTA  M/30  Pain, tumour 6 months  Proximal tibia  No  Osteolytic  Epitheloid cells  HMB45 (+)  Benign  Resection en bloc  No 
Lain et al.5 (one case)  2008  3 months  AWNTA  F/52  Pain, tumour 5 months  Proximal fibula  No  Osteolytic  Epitheloid cells  HMB45 (+), CD10 (+)  Malignant  Resection en bloc  No 
Righi et al.7 (one case)  2008  –  –  F/92  –  Proximal Fibula  No  Osteolytic  Epitheloid cells  HMB45 (+), CD10 (+)  –  Resection en bloc  – 
Torii et al.8 (one case)  2008  –  –  M/28  Pain, a few years  6.th rib  No  Osteolytic  Epitheloid cells  HMB45 (+), actin (+)  Malignant Potential  Resection en bloc  – 
Yamashita et al.9 (3 cases)  2010  12 months  AWTA  M/35  Pain, weakness of bilateral legs  T7  Yes  Osteolytic  Epitheloid cells, fusiform  HMB45 (+), actin (+), Melan-A (+)  Malignant/metastasis  CT/RT  Yes 
  2010  34 months  AWNTA  F/39  Pain  Proximal Tibia  Yes  Osteolytic  Epitheloid cells, fusiform  HMB45 (+), actin (+), melan-A (+)  Benign  Resection/RT  No 
  2010  36 months  AWNTA  F/48  Pain  Distal Tibia  Yes  Osteolytic  Fusiform cells  HMB45 (+), Actin (+), melan-A (+)  Malignant potential  Radical resection  Yes 
Desy et al.10 (2 cases)  2012  24 months  AWNTA  F/93  Pain, tumour 8 months, pathologic fracture  Distal Fibula  Yes  Osteolytic  Epitheloid cells, bursiform  HMB45 (+)  Benign  Resection en bloc  No 
  2012  8 months  DWTA  M/24  Pain  Acetabulum  Yes  Osteolytic  Epitheloid cells, fusiform  Vimetin (+), mart-1/melan-A (+), desmin (+)  Malignant/metastasis  Resection en bloc  Yes 
Kazzas et al.11 (one case)  2012  –  –  M/26  Pain, radiculopathy L5S1, tumour 2 months  L5  Yes  Osteolytic  Epitheloid cells  HMB45 (+), S100 (+)?, TEF-3 (+)  –  Marginal resection  – 
Lao et al.12 (one case)  2015  42 months  AWTA  M/47  Pain, tumour 2 years  Distal femur  Yes  Osteolytic  Epitheloid cells  HMB45 (+), PNL2 (+), TFE-3 (+), vimetin (+), actin (+), CD10(+), CD17 (+)  Malignant/metastasis  Curettage, RT/CT  Yes 
Técualt et al. (one case)  2016  36 months  AWNTA  M/24  Pain, tumour one year  Proximal Tibia proximal  Yes  Osteolytic  Epitheloid cells  HMB45 (−), actin (−), melan-A (−), others (−)  Benign  Resection en bloc/CT  No 

DWTA: dead with tumour activity; CT: chemotherapy; RT: radiotherapy; AWTA: alive with tumour activity; AWNTA: alive with no tumour activity.

We report case number 12 of primary bone PEComa since its first description made by Insabato et al. in 2002,6 and case number 3 in the proximal tibia. The long bones of the extremities tend to be involved in this presentation, and pain is the most common presentation characteristic, followed by pathological fracture and tumour,9 which were also found in our patient.

Our reported case is consistent with the affection site, the classical histopathological characteristics described for PEComa: clear cell epitheloids with clear granular cytoplasm, a prominent nucleolus and the locastin of these cells around the blood vessels. However, the immunohistochrmical report did not reveal any positive results for the marker normally found in this tumour cell line: MelanA, smooth muscle actin and HMB-45.

The histogenesis and normal/physiological counterpart of PECs are unknown, but several hypotheses have been proposed. One of these hypotheses is that the PEC derive from undifferentiated cells of the neural crest which express the dual phenotype of smooth and melanocytic muscle. A second hypothesis is that the PECs are of myoblast, smooth muscle origin with a molecular alteration which leads to the expression of melanogenesis and melanocytic markers. A third hypothesis is that the PECs have a pericytic origen.1 Furthermore, at least focally, the tumour cells of PEComa are closely arranged around the blood vessels, and on some occasions appear to compromise the muscle wall of blood vessels.9

Folpe et al. proposed the provisional classification of PEComa into “benign” “uncertain malignant potential” and “malignant”. A significant association was found between the size of the tumour over 5cm, infiltrating growth pattern, high nuclear grade, high cellularity, necrosis and mitotic activity above 1/50 by high power field. It has been suggested that the PEComas, with 2 or more characteristics of concern, may be classified as “malignant” with recognition that the clinically aggressive disease may not be histologically observed in all malignant neoplasms. In our case the criteria described by Folpe et al. were met. It has also been suggested that these characteristics may be classified as having an “uncertain malignant potential”.13

Malignant PEComa may be a highly aggressive disease, leading to many forms of metastasis and death, as would be expected of high grade sarcomas and reports exist that malignant PEComas have metastasized after 7–9 years in primary sites which are not always bone.1

At present it appears that the only approach in the treatment of PEComas in aggressive cases is surgery, since radio and chemotherapy have not demonstrated significant outcomes. However, this information derives from anecdotal cases and therapeutic trials have not been implemented. One of the clear difficulties in carrying out this type of study is the rarity of the disease.1

In our case we used neo-adjuvant chemotherapy due to low local experience available in the treatment of this type of tumour, the first case to be found in this country. However, because the pathology reported changes suggestive of a probable sarcoma and atypia, we decided to initiate treatment with this mode of therapy. Once the histopathological study had been reviewed by the pathologist expert in bone tissue, no similarity was found with any other type of sarcoma and it was not until subsequent reporting of the surgical specimen of resection that definitive diagnosis of PEComa was made, following additional information from its immunohistochemical study.

The prognosis of PEComa is variable and mainly depends on histopathological characteristics.10

Conclusions

This is the first case of bone PEComa reported in Latin America. Its clinical and pathological characteristics were demonstrated but no immunohistochemical markers were found and this final point does not coincide with what has been described as standard. We believe this may be due to ethnic variations which have not yet been described.

Level of evidence

Level of evidence V.

References
[1]
G. Martignoni, M. Pea, D. Reghellin, G. Zamboni, F. Bonetti.
PEComas: the past, the present and the future.
Virchows Arch, 452 (2008), pp. 119-132
[2]
K. Apitz.
Die Geschwülste und Gewebsimissbildungen der Nierenrinde. II Midteilung. Die mesenchymalen Neubildungen.
Virchows Arch, 311 (1943), pp. 306-327
[3]
P. Masson.
Origin of fibromyolipomas.
Human tumors. Histology, diagnosis, and technique, Wayne State University Press, (1970), pp. 735-736
[4]
F. Bonetti, M. Pea, G. Martignoni, G. Zamboni.
PEC and sugar.
Am J Surg Pathol, 16 (1992), pp. 307-308
[5]
D.W.Q. Lian, K.L. Chuah, M.H.W. Cheng, W.M. Yap.
Malignant perivascular epithelioid cell tumour of the fibula: a report and a short review of bone perivascular epithelioid cell tumour.
J Clin Pathol, 61 (2008), pp. 1127-1129
[6]
L. Insabato, G. de Rosa, L.M. Terraciano, F. Fazioli, F. di Santo, J. Rosai.
Primary monotypic epithelioid angiomolipoma of bone.
Histopathology, 40 (2002), pp. 286-290
[7]
A. Righi, K. Dimosthenous, J. Rosai.
PEComa: another member of the MiT tumor family?.
Int Surg Pathol, 16 (2008), pp. 16-20
[8]
I. Torii, N. Kondo, T. Takuwa, S. Matsumoto, Y. Okumura, A. Sato, et al.
Perivascular epitheloid cell tumor of the rib.
Virchows Arch, 452 (2008), pp. 697-702
[9]
K. Yamashita, C.D.M. Fletcher.
PEComa presenting in bone: clinopathologic analysis of 6 cases and literature review.
Am J Surg Pathol, 34 (2010), pp. 1622-1629
[10]
N.M. Desy, M. Bernstein, A. Nahal, M. Aziz, S. Kenan, R.E. Turcotte, et al.
Primary perivascular epitheloid cell neoplasm (PEComa) of bone: report of two cases and review of the literature.
Skeletal Radiol, 41 (2012), pp. 1469-1474
[11]
D. Kazzaz, M. Khalifa, M. Alorjan, M. Shaw, K. Rezajooi, A. Saifuddin.
Malignant PEComa of the lumbar vertebra: a rare bone tumour.
Skeletal Radiol, 41 (2012), pp. 1465-1468
[12]
I.W. Lao, L. Yu, J. Wang.
Malignant perivascular epithelioid cell tumor (PEComa) of the femur: a case report and literature review.
Diagn Pathol, 10 (2015), pp. 1-6
[13]
A.L. Folpe, T. Mentzel, H.A. Lehr, C. Fisher, B.L. Balzer, S.W. Weiss.
Perivascular epithelioid cell neoplasms of soft tissues and gynecologic origin.
Am J Surg Pathol, 29 (2005), pp. 1558-1575

Please cite this article as: Técualt-Gómez R, Atencio-Chan A, Amaya-Zepeda RA, Cario-Méndez AG, González-Valladares R, Rodríguez-Franco JH. Neoplasia de células epiteloides perivasculares (PEComa) tibial. Reporte de un caso y revisión de la literatura. Rev Esp Cir Ortop Traumatol. 2019;93:239–245.

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