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Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of the literature
Cardiovascular Pathology xxx (2015) xxx–xxx
Contents lists available at ScienceDirect
Cardiovascular Pathology
Original Article
Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of the literature Lingxin Zhang ⁎, Danielle Carpenter, Louis P. Dehner Department of Pathology and Immunology, Barnes-Jewish Hospital/St. Louis Children’s Hospital, Washington University in St. Louis, St. Louis, MO 63110, United States
a r t i c l e
i n f o
Article history: Received 17 June 2015 Received in revised form 15 August 2015 Accepted 20 August 2015 Available online xxxx Keywords: Perivascular epithelioid cell neoplasms (PEComas) Sudden death Autopsy
a b s t r a c t A 30-year-old man with past medical history of atrial fibrillation/flutter passed away after presenting with sudden-onset cardiac dysfunction. The postmortem examination revealed cardiac tamponade secondary to rupture of a 7.2-cm pericardial perivascular epithelioid cell tumor (PEComa). The tumor grossly appeared to arise from the transverse pericardial sinus and focally penetrated the epicardium of the right atrium. Microscopically, it was composed of predominately spindle cells with low nuclear grade, no pleomorphism, or readily apparent mitoses. Immunohistochemistry revealed cytoplasmic reactivity for HMB-45, desmin, and smooth muscle actin. Electron microscopic findings were characterized by melanosome-like structures intermixed with intermediate filaments and abundant stacked endoplasmic reticulum. The present case is unique among previously reported pericardial/myocardial PEComas as a first example resulting in unexpected cardiac tamponade and sudden cardiac death. © 2015 Elsevier Inc. All rights reserved.
1. Introduction Perivascular epithelioid cell neoplasms (PEComas) are mesenchymal tumors composed of histologically and immunohistochemically distinctive cells that coexpress melanocytic and smooth muscle markers. Although the neoplastic cells may show an association with blood vessel walls, the nature of these cells remains speculative [1]. Association of some PEComas, including angiomyolipoma (AML) and lymphangiomyomatosis (LAM), and the tuberous sclerosis complex (TSC) has been recognized. The best-known members of the PEComa family include AML, LAM, and clear cell “sugar” tumor of lung. Other rarer subtypes of PEComas have been reported within the abdomen without a clear organ-based origin, bone, soft tissue, and a number of organs. This report documents a case of a 30-yearold man whose tumor ruptured resulting in cardiac tamponade and sudden death.
2. Case report A 30-year-old man had a past medical history of atrial fibrillation/ flutter initially at the age 16 years; atrial fibrillation recurred 11 years Abbreviations: PEComa, perivascular epithelioid cell tumor; AML, angiomyolipoma; TSC, tuberous sclerosis complex; LAM, lymphangiomyomatosis. ⁎ Corresponding author. Campus Box 8118, 660 S. Euclid Avenue, St. Louis, MO 63110, United States. Tel.: +1-314-362-6210. E-mail addresses: [email protected] (L. Zhang), [email protected] (D. Carpenter), [email protected] (L.P. Dehner).
later, at 27 years of age. While at a public event, he suddenly fell forward onto the ground and became unresponsive. Cardiopulmonary resuscitation was initiated, and on arrival at the Emergency Department, he was in ventricular fibrillation, which converted into supraventricular tachycardia after multiple rounds of defibrillation. Echocardiogram showed ejection fraction at 25%, left ventricular hypertrophy, dilatation of left ventricle, grade III diastolic dysfunction, moderate pericardial effusion, and a large right atrial mass. Despite maximum ventilation and inotropic support, he expired. 3. Pathologic findings At autopsy, the major findings were restricted to the thoracic cavity where 450 ml sanguineous fluid with blood clots was found in the pericardial cavity. A 7.2 cm×6.4 cm×6.0 cm dome-shaped solid mass was identified, located posterior to the right atrium, that appeared to arise from the transverse pericardial sinus, with proximity to the root of superior vena cava (Fig. 1). The surface of the mass was largely smooth and glistening except for a 3.0 cm×2.5 cm hemorrhagic erosion. The mass adhered to and, although grossly inconspicuous, focally penetrated the epicardium/epicardial layer of the right atrium (Fig. 2A). There was no involvement of the myocardium. Other findings included bilateral sanguineous pleural effusions (550 ml on the right and 200 ml on the left), pulmonary edema, and left ventricular hypertrophy. The tumor was composed of predominantly irregularly arranged, focally fascicular spindle cells with clear to light eosinophilic cytoplasm. The nuclei were round to oval and variably vacuolated, with small
http://dx.doi.org/10.1016/j.carpath.2015.08.009 1054-8807/© 2015 Elsevier Inc. All rights reserved.
Please cite this article as: Zhang L, et al, Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of th..., Cardiovasc Pathol (2015), http://dx.doi.org/10.1016/j.carpath.2015.08.009
2
L. Zhang et al. / Cardiovascular Pathology xxx (2015) xxx–xxx
Fig. 1. Gross appearance of the tumor in respect to the heart. (A) Tumor posterior to the right atrium, within pericardial cavity; arrowhead, tumor; arrow, right atrial appendage. (B) Solid tumor with tan-yellow, fleshy, and hemorrhagic cut surface, with adhesion to the epicardium of the right atrium.
nucleoli (Fig. 2B) and no nuclear atypia or pleomorphism. No coagulative necrosis or mitotic activity was identified. The lesion had a rich delicate capillary network (highlighted by CD34 immunostain; Fig. 2C), frequent hemorrhage, and occasional dystrophic calcifications.
Immunohistochemically, the tumor cells were diffusely reactive for HMB-45, desmin, and smooth muscle actin (SMA) and nonreactive for melan-A, S100, and calretinin (Fig. 2D–F and Table 1). Transmission electron microscopy showed abundant membrane-bound, melanosome-like
Fig. 2. Microscopic appearance of the tumor. (A) Tumor in respect to the right atrium, with focal, superficial invasion (H&E, ×40; inset, H&E, ×100); arrowhead, interface. (B) Pericardial PEComa composed of predominantly irregularly arranged spindle cells, with clear to light eosinophilic cytoplasm, round to oval nuclei, and small nucleoli (H&E, ×40; inset, H&E, ×600). (C) CD34 immumostain highlighting delicate capillary network (H&E, ×100). (D) Neoplastic spindle cells with strong and diffuse cytoplasmic immunoreactivity to desmin. (E) Tumor cells positive for HMB-45. (F) Tumor cells with diffuse but faint immunoreactivity for SMA.
Please cite this article as: Zhang L, et al, Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of th..., Cardiovasc Pathol (2015), http://dx.doi.org/10.1016/j.carpath.2015.08.009
L. Zhang et al. / Cardiovascular Pathology xxx (2015) xxx–xxx Table 1 Immunohistochemical stains Stain
Clone
Source
Dilution
Source
HMB-45 Melan-A SMA Calretinin S100 Desmin CD34
Monoclonal A103 monoclonal 1A4 monoclonal Sp65 monoclonal Polyclonal DE-R-11 monoclonal QBEnd/10
Mouse Mouse Mouse Rabbit Rabbit Rabbit Mouse
Predilute Predilute Predilute Predilute Predilute Predilute Predilute
Cell marque Ventana Ventana Ventana Ventana Ventana Ventana
structures admixed with intermediate filaments and stacked endoplasmic reticulum (Fig. 3). 4. Discussion PEComas involving the pericardium and myocardium are extremely rare, even among a group of neoplasms that are uncommon overall. To date, there have been eight reports of primary pericardial/myocardial PEComas (Table 2). Discrepancies of terminology existed, with five cases diagnosed as “PEComa”, two cases as “cardiac AML”, and one case as “primary extrapulmonary sugar tumor”. Mean age was 24.5 years (2–48 years old), with an equal male-to-female ratio. Among other members of the PEComa family, these tumors tend to present in the first four decades of life. In all cases, the tumor was at least 6 cm at time of diagnosis/autopsy and caused signs and symptoms, most commonly dyspnea and arrhythmias. All tumors were located within pericardial cavity and/or closely associated with the great vessels at the posterior wall of the heart. In terms of pathologic and immunohistochemical findings, the tumors were composed of epithelioid and/or
3
spindle cells that consistently expressed HMB-45. There were variations of mitotic activities and tumor necrosis in described cases. None of the individuals had associated TSC. Compression of the great vessels and involvement of the conduction system by pericardial/myocardial PEComas are thematic in the clinical presentation of these neoplasms. Though there was no documentation of a pericardial/myocardial neoplasm in our case until the discovery at autopsy, there was the history of atrial fibrillation dating to age 16 years. It is interesting to note that these neoplasms tend to present posteriorly in the region of the atrioventricular groove, a particularly vulnerable site for the development of atrial arrhythmias. Of the seven patients who had surgical treatment, two died postoperatively and five were disease-free after 6–32 months’ follow-up. It is acknowledged that the follow-up periods are less than 3 years in all cases (Table 2). The present case is unique among those previously reported pericardial/myocardial PEComas with regard to the clinical presentation of acute cardiac tamponade with the rupture into the pericardial sac. Although the large size (N5 cm) and focally infiltrative growth of the tumor suggested a malignant progression, there were no pathologic features such as nuclear atypia, pleomorphism, or readily apparent mitoses. The malignancy potential of pericardial/myocardial PEComas is uncertain, yet their location is ubiquitous with the risk for sudden cardiac death and perioperative complications. PEComa remains an enigmatic neoplasm in terms of the histogenesis. It has been noted on more than one occasion that this tumor does not have an identifiable normal counterpart cell. One intriguing hypothesis is that the PEComa is derived from or recapitulates the pluripotentiality of the neural crest [9]. Aside from the embryonic stem cell, there are only few other cells with the potential to differentiate along melanocytic and myogenic lineage simultaneously within the same cell.
Fig. 3. Transmission electron microscopy, showing (A) abundant intermediate filaments admixed with (B) membrane-bound, melanosome-like structures (arrowhead) and stacked endoplasmic reticulum.
Please cite this article as: Zhang L, et al, Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of th..., Cardiovasc Pathol (2015), http://dx.doi.org/10.1016/j.carpath.2015.08.009
4
L. Zhang et al. / Cardiovascular Pathology xxx (2015) xxx–xxx
Table 2 Clinical and pathologic features of pericardial/myocardial PEComas Case
Age
Sex
Site
Clinical presentation
Size
Morphology
IHC
Mitotic activity
Necrosis
Follow-up
Shimizu et al. (1994)[2]
48
F
R atrium
Dyspnea
6 cm
N/A
N/A
N/A
DF, 20 months
Tsai et al. (1997)[3]
38
F
R atrium, adhesion to origin of IVC
Severe dyspnea
34 cm
N/A
Rare
N/A
Died, PO
Tazelaar et al. (2001)[4]
29
M
AF, 7 years and symptoms of mitral stenosis
12 cm
HMB-45 (+), PAS (+)
45/10 HPF, with atypical mitotic figures
Yes
Died, PO
Geramizadeh et al. (2008)[5]
20
M
L and R atria, near pulmonary veins, infiltrate myocardium P. heart, w/adhesion to both atria and L ventricle
Blood vessels, smooth muscle and fat Blood vessels, smooth muscle and fat Epithelioid cells
Chest pain, palpitation and dyspnea, 4 days
15 cm
Epithelioid cells
N1/50 HPF
Yes
DF, 6 months
Mollazadeh et al. (2009)[6]
19
M
AV groove
16 cm
N/A
N/A
N/A
DF, 6 months
Tai et al. (2010)[7]
10
F
L AV groove
Progressive dyspnea and L sided chest pain on deep inspiration, 1-month Cardiac murmur and increasing dyspnea
HMB-45 (+), SMA (+), vimentin (+), desmin (+) HMB-45 (+)
6 cm
Spindle and epithelioid cells
Rare
No
DF, 18 months
Niu et al. (2012)[8]
2
F
Epithelioid cells
25/50 HFP
Yes
DF, 32 months
30
M
Cyanosis, edema of lower extremities, arrhythmia Recurrent AF and sudden death
5.4 cm
Present case (2015)
P. L atrium, infiltrating coronary sinus, myocardium P. R atrium, pericardial sinus
HMB-45 (+), melan-A (+), SMA (+) HMB-45 (+), focal SMA (+)
7.2 cm
Predominantly spindle cells
None
No
DOT
HMB-45 (+), desmin (+), SMA (+)
Abbreviations: M, male; F, female; DF, disease free; DOT, died of tumor; AV, atrioventricular; AF, atrial fibrillation; IVC, inferior vena cava; L, left; R, right; P, posterior.
References [1] Hornick JL, Pan CC. PEComa. In: Fletcher CD, Bridge JA, Hogendoorn PC, Mertens F, editors. WHO Classification of Tumours of Soft Tissue and Bone. World Health Organization; 2013. p. 230–1. [2] Shimizu M, Manabe T, Tazelaar HD, Hirokawa M, Moriya T, Ito J, et al. Intramyocardial angiomyolipoma. Am J Surg Pathol 1994;18(11):1164–9. [3] Tsai CC, Chou CY, Han SJ, Mo LR, Lin CC. Cardiac angiomyolipoma: radiologic and pathologic correlation. J Formos Med Assoc 1997;96(8):653–6. [4] Tazelaar HD, Batts KP, Srigley JR. Primary extrapulmonary sugar tumor (PEST): a report of four cases. Mod Pathol 2001;14(6):615–22.
[5] Geramizadeh B, Salehzadeh A, Ghazinoor M, Moaref A, Mollazadeh R. Perivascular epithelioid cell tumor of the pericardium: a case report. Cardiovasc Pathol 2008;17(5): 339–41. [6] Mollazadeh R, Moaref AR, Ghazinoor M, Sefidbakht S, Bigi MA, Geramizadeh B, et al. Pericardial PEComa: echocardiographic features. Int J Cardiol 2009;132(1):e5–7. [7] Tai Y, Wei L, Shi H. Perivascular epithelioid cell tumor of the heart in a child. Pediatr Dev Pathol 2010;13(5):412–4. [8] Niu H, Wang FW, Zhang PJ, Bing Z. Cardiac epithelioid PEComa: report of two cases and review of the literature. Case Rep Med 2012;2012:521678. [9] Fernandez-flores A. Evidence on the neural crest origin of PEComas. Rom J Morphol Embryol 2011;52(1):7–13.
Please cite this article as: Zhang L, et al, Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of th..., Cardiovasc Pathol (2015), http://dx.doi.org/10.1016/j.carpath.2015.08.009
Contents lists available at ScienceDirect
Cardiovascular Pathology
Original Article
Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of the literature Lingxin Zhang ⁎, Danielle Carpenter, Louis P. Dehner Department of Pathology and Immunology, Barnes-Jewish Hospital/St. Louis Children’s Hospital, Washington University in St. Louis, St. Louis, MO 63110, United States
a r t i c l e
i n f o
Article history: Received 17 June 2015 Received in revised form 15 August 2015 Accepted 20 August 2015 Available online xxxx Keywords: Perivascular epithelioid cell neoplasms (PEComas) Sudden death Autopsy
a b s t r a c t A 30-year-old man with past medical history of atrial fibrillation/flutter passed away after presenting with sudden-onset cardiac dysfunction. The postmortem examination revealed cardiac tamponade secondary to rupture of a 7.2-cm pericardial perivascular epithelioid cell tumor (PEComa). The tumor grossly appeared to arise from the transverse pericardial sinus and focally penetrated the epicardium of the right atrium. Microscopically, it was composed of predominately spindle cells with low nuclear grade, no pleomorphism, or readily apparent mitoses. Immunohistochemistry revealed cytoplasmic reactivity for HMB-45, desmin, and smooth muscle actin. Electron microscopic findings were characterized by melanosome-like structures intermixed with intermediate filaments and abundant stacked endoplasmic reticulum. The present case is unique among previously reported pericardial/myocardial PEComas as a first example resulting in unexpected cardiac tamponade and sudden cardiac death. © 2015 Elsevier Inc. All rights reserved.
1. Introduction Perivascular epithelioid cell neoplasms (PEComas) are mesenchymal tumors composed of histologically and immunohistochemically distinctive cells that coexpress melanocytic and smooth muscle markers. Although the neoplastic cells may show an association with blood vessel walls, the nature of these cells remains speculative [1]. Association of some PEComas, including angiomyolipoma (AML) and lymphangiomyomatosis (LAM), and the tuberous sclerosis complex (TSC) has been recognized. The best-known members of the PEComa family include AML, LAM, and clear cell “sugar” tumor of lung. Other rarer subtypes of PEComas have been reported within the abdomen without a clear organ-based origin, bone, soft tissue, and a number of organs. This report documents a case of a 30-yearold man whose tumor ruptured resulting in cardiac tamponade and sudden death.
2. Case report A 30-year-old man had a past medical history of atrial fibrillation/ flutter initially at the age 16 years; atrial fibrillation recurred 11 years Abbreviations: PEComa, perivascular epithelioid cell tumor; AML, angiomyolipoma; TSC, tuberous sclerosis complex; LAM, lymphangiomyomatosis. ⁎ Corresponding author. Campus Box 8118, 660 S. Euclid Avenue, St. Louis, MO 63110, United States. Tel.: +1-314-362-6210. E-mail addresses: [email protected] (L. Zhang), [email protected] (D. Carpenter), [email protected] (L.P. Dehner).
later, at 27 years of age. While at a public event, he suddenly fell forward onto the ground and became unresponsive. Cardiopulmonary resuscitation was initiated, and on arrival at the Emergency Department, he was in ventricular fibrillation, which converted into supraventricular tachycardia after multiple rounds of defibrillation. Echocardiogram showed ejection fraction at 25%, left ventricular hypertrophy, dilatation of left ventricle, grade III diastolic dysfunction, moderate pericardial effusion, and a large right atrial mass. Despite maximum ventilation and inotropic support, he expired. 3. Pathologic findings At autopsy, the major findings were restricted to the thoracic cavity where 450 ml sanguineous fluid with blood clots was found in the pericardial cavity. A 7.2 cm×6.4 cm×6.0 cm dome-shaped solid mass was identified, located posterior to the right atrium, that appeared to arise from the transverse pericardial sinus, with proximity to the root of superior vena cava (Fig. 1). The surface of the mass was largely smooth and glistening except for a 3.0 cm×2.5 cm hemorrhagic erosion. The mass adhered to and, although grossly inconspicuous, focally penetrated the epicardium/epicardial layer of the right atrium (Fig. 2A). There was no involvement of the myocardium. Other findings included bilateral sanguineous pleural effusions (550 ml on the right and 200 ml on the left), pulmonary edema, and left ventricular hypertrophy. The tumor was composed of predominantly irregularly arranged, focally fascicular spindle cells with clear to light eosinophilic cytoplasm. The nuclei were round to oval and variably vacuolated, with small
http://dx.doi.org/10.1016/j.carpath.2015.08.009 1054-8807/© 2015 Elsevier Inc. All rights reserved.
Please cite this article as: Zhang L, et al, Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of th..., Cardiovasc Pathol (2015), http://dx.doi.org/10.1016/j.carpath.2015.08.009
2
L. Zhang et al. / Cardiovascular Pathology xxx (2015) xxx–xxx
Fig. 1. Gross appearance of the tumor in respect to the heart. (A) Tumor posterior to the right atrium, within pericardial cavity; arrowhead, tumor; arrow, right atrial appendage. (B) Solid tumor with tan-yellow, fleshy, and hemorrhagic cut surface, with adhesion to the epicardium of the right atrium.
nucleoli (Fig. 2B) and no nuclear atypia or pleomorphism. No coagulative necrosis or mitotic activity was identified. The lesion had a rich delicate capillary network (highlighted by CD34 immunostain; Fig. 2C), frequent hemorrhage, and occasional dystrophic calcifications.
Immunohistochemically, the tumor cells were diffusely reactive for HMB-45, desmin, and smooth muscle actin (SMA) and nonreactive for melan-A, S100, and calretinin (Fig. 2D–F and Table 1). Transmission electron microscopy showed abundant membrane-bound, melanosome-like
Fig. 2. Microscopic appearance of the tumor. (A) Tumor in respect to the right atrium, with focal, superficial invasion (H&E, ×40; inset, H&E, ×100); arrowhead, interface. (B) Pericardial PEComa composed of predominantly irregularly arranged spindle cells, with clear to light eosinophilic cytoplasm, round to oval nuclei, and small nucleoli (H&E, ×40; inset, H&E, ×600). (C) CD34 immumostain highlighting delicate capillary network (H&E, ×100). (D) Neoplastic spindle cells with strong and diffuse cytoplasmic immunoreactivity to desmin. (E) Tumor cells positive for HMB-45. (F) Tumor cells with diffuse but faint immunoreactivity for SMA.
Please cite this article as: Zhang L, et al, Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of th..., Cardiovasc Pathol (2015), http://dx.doi.org/10.1016/j.carpath.2015.08.009
L. Zhang et al. / Cardiovascular Pathology xxx (2015) xxx–xxx Table 1 Immunohistochemical stains Stain
Clone
Source
Dilution
Source
HMB-45 Melan-A SMA Calretinin S100 Desmin CD34
Monoclonal A103 monoclonal 1A4 monoclonal Sp65 monoclonal Polyclonal DE-R-11 monoclonal QBEnd/10
Mouse Mouse Mouse Rabbit Rabbit Rabbit Mouse
Predilute Predilute Predilute Predilute Predilute Predilute Predilute
Cell marque Ventana Ventana Ventana Ventana Ventana Ventana
structures admixed with intermediate filaments and stacked endoplasmic reticulum (Fig. 3). 4. Discussion PEComas involving the pericardium and myocardium are extremely rare, even among a group of neoplasms that are uncommon overall. To date, there have been eight reports of primary pericardial/myocardial PEComas (Table 2). Discrepancies of terminology existed, with five cases diagnosed as “PEComa”, two cases as “cardiac AML”, and one case as “primary extrapulmonary sugar tumor”. Mean age was 24.5 years (2–48 years old), with an equal male-to-female ratio. Among other members of the PEComa family, these tumors tend to present in the first four decades of life. In all cases, the tumor was at least 6 cm at time of diagnosis/autopsy and caused signs and symptoms, most commonly dyspnea and arrhythmias. All tumors were located within pericardial cavity and/or closely associated with the great vessels at the posterior wall of the heart. In terms of pathologic and immunohistochemical findings, the tumors were composed of epithelioid and/or
3
spindle cells that consistently expressed HMB-45. There were variations of mitotic activities and tumor necrosis in described cases. None of the individuals had associated TSC. Compression of the great vessels and involvement of the conduction system by pericardial/myocardial PEComas are thematic in the clinical presentation of these neoplasms. Though there was no documentation of a pericardial/myocardial neoplasm in our case until the discovery at autopsy, there was the history of atrial fibrillation dating to age 16 years. It is interesting to note that these neoplasms tend to present posteriorly in the region of the atrioventricular groove, a particularly vulnerable site for the development of atrial arrhythmias. Of the seven patients who had surgical treatment, two died postoperatively and five were disease-free after 6–32 months’ follow-up. It is acknowledged that the follow-up periods are less than 3 years in all cases (Table 2). The present case is unique among those previously reported pericardial/myocardial PEComas with regard to the clinical presentation of acute cardiac tamponade with the rupture into the pericardial sac. Although the large size (N5 cm) and focally infiltrative growth of the tumor suggested a malignant progression, there were no pathologic features such as nuclear atypia, pleomorphism, or readily apparent mitoses. The malignancy potential of pericardial/myocardial PEComas is uncertain, yet their location is ubiquitous with the risk for sudden cardiac death and perioperative complications. PEComa remains an enigmatic neoplasm in terms of the histogenesis. It has been noted on more than one occasion that this tumor does not have an identifiable normal counterpart cell. One intriguing hypothesis is that the PEComa is derived from or recapitulates the pluripotentiality of the neural crest [9]. Aside from the embryonic stem cell, there are only few other cells with the potential to differentiate along melanocytic and myogenic lineage simultaneously within the same cell.
Fig. 3. Transmission electron microscopy, showing (A) abundant intermediate filaments admixed with (B) membrane-bound, melanosome-like structures (arrowhead) and stacked endoplasmic reticulum.
Please cite this article as: Zhang L, et al, Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of th..., Cardiovasc Pathol (2015), http://dx.doi.org/10.1016/j.carpath.2015.08.009
4
L. Zhang et al. / Cardiovascular Pathology xxx (2015) xxx–xxx
Table 2 Clinical and pathologic features of pericardial/myocardial PEComas Case
Age
Sex
Site
Clinical presentation
Size
Morphology
IHC
Mitotic activity
Necrosis
Follow-up
Shimizu et al. (1994)[2]
48
F
R atrium
Dyspnea
6 cm
N/A
N/A
N/A
DF, 20 months
Tsai et al. (1997)[3]
38
F
R atrium, adhesion to origin of IVC
Severe dyspnea
34 cm
N/A
Rare
N/A
Died, PO
Tazelaar et al. (2001)[4]
29
M
AF, 7 years and symptoms of mitral stenosis
12 cm
HMB-45 (+), PAS (+)
45/10 HPF, with atypical mitotic figures
Yes
Died, PO
Geramizadeh et al. (2008)[5]
20
M
L and R atria, near pulmonary veins, infiltrate myocardium P. heart, w/adhesion to both atria and L ventricle
Blood vessels, smooth muscle and fat Blood vessels, smooth muscle and fat Epithelioid cells
Chest pain, palpitation and dyspnea, 4 days
15 cm
Epithelioid cells
N1/50 HPF
Yes
DF, 6 months
Mollazadeh et al. (2009)[6]
19
M
AV groove
16 cm
N/A
N/A
N/A
DF, 6 months
Tai et al. (2010)[7]
10
F
L AV groove
Progressive dyspnea and L sided chest pain on deep inspiration, 1-month Cardiac murmur and increasing dyspnea
HMB-45 (+), SMA (+), vimentin (+), desmin (+) HMB-45 (+)
6 cm
Spindle and epithelioid cells
Rare
No
DF, 18 months
Niu et al. (2012)[8]
2
F
Epithelioid cells
25/50 HFP
Yes
DF, 32 months
30
M
Cyanosis, edema of lower extremities, arrhythmia Recurrent AF and sudden death
5.4 cm
Present case (2015)
P. L atrium, infiltrating coronary sinus, myocardium P. R atrium, pericardial sinus
HMB-45 (+), melan-A (+), SMA (+) HMB-45 (+), focal SMA (+)
7.2 cm
Predominantly spindle cells
None
No
DOT
HMB-45 (+), desmin (+), SMA (+)
Abbreviations: M, male; F, female; DF, disease free; DOT, died of tumor; AV, atrioventricular; AF, atrial fibrillation; IVC, inferior vena cava; L, left; R, right; P, posterior.
References [1] Hornick JL, Pan CC. PEComa. In: Fletcher CD, Bridge JA, Hogendoorn PC, Mertens F, editors. WHO Classification of Tumours of Soft Tissue and Bone. World Health Organization; 2013. p. 230–1. [2] Shimizu M, Manabe T, Tazelaar HD, Hirokawa M, Moriya T, Ito J, et al. Intramyocardial angiomyolipoma. Am J Surg Pathol 1994;18(11):1164–9. [3] Tsai CC, Chou CY, Han SJ, Mo LR, Lin CC. Cardiac angiomyolipoma: radiologic and pathologic correlation. J Formos Med Assoc 1997;96(8):653–6. [4] Tazelaar HD, Batts KP, Srigley JR. Primary extrapulmonary sugar tumor (PEST): a report of four cases. Mod Pathol 2001;14(6):615–22.
[5] Geramizadeh B, Salehzadeh A, Ghazinoor M, Moaref A, Mollazadeh R. Perivascular epithelioid cell tumor of the pericardium: a case report. Cardiovasc Pathol 2008;17(5): 339–41. [6] Mollazadeh R, Moaref AR, Ghazinoor M, Sefidbakht S, Bigi MA, Geramizadeh B, et al. Pericardial PEComa: echocardiographic features. Int J Cardiol 2009;132(1):e5–7. [7] Tai Y, Wei L, Shi H. Perivascular epithelioid cell tumor of the heart in a child. Pediatr Dev Pathol 2010;13(5):412–4. [8] Niu H, Wang FW, Zhang PJ, Bing Z. Cardiac epithelioid PEComa: report of two cases and review of the literature. Case Rep Med 2012;2012:521678. [9] Fernandez-flores A. Evidence on the neural crest origin of PEComas. Rom J Morphol Embryol 2011;52(1):7–13.
Please cite this article as: Zhang L, et al, Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of th..., Cardiovasc Pathol (2015), http://dx.doi.org/10.1016/j.carpath.2015.08.009