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Mediastinal and pulmonary infantile myofibromatosis: an unusual surgical presentation
Journal of Pediatric Surgery (2008) 43, E29–E31
www.elsevier.com/locate/jpedsurg
Mediastinal and pulmonary infantile myofibromatosis: an unusual surgical presentation Melissa Short a , A. Dramis a , P. Ramani b , Dakshesh H. Parikh a,⁎ a
Department of Pediatric Surgery, Birmingham ChildrenTs Hospital, Steelhouse Ln, Birmingham B4 6NH, United Kingdom Department of Histopathology, Bristol Royal Infirmary, Bristol BS1 3NU, United Kingdom
b
Received 17 December 2007; revised 21 June 2008; accepted 22 June 2008
Key words: Visceral infantile myofibromatosis; Children; Pneumonectomy; Emphysematous left lung; Stridor
Abstract A 4-week-old boy was extensively investigated for stridor and respiratory distress and was found to have a soft tissue mass superior to the left hilum and emphysema of the entire left lung. An exploratory thoracotomy was undertaken for diagnosis and possibly to improve respiratory distress. Intraoperatively, a firm plaquelike mass was identified encasing the entire hilum including left pulmonary artery and left main bronchus. It became apparent that a left pneumonectomy was needed to be performed to resect the tumor completely and achieve hemostasis. Histopathologic examination revealed infantile myofibromatosis with multiple foci within the entire lung parenchyma as well as in the hilar mass. The child is completely recurrence-free and symptom-free after 6 years of follow-up. The literature review was carried out to discuss management of this rare but benign and surgically challenging condition. © 2008 Elsevier Inc. All rights reserved.
Infantile myofibromatosis (IM) is a rare mesenchymal disorder with an unknown etiology, where tumors are detected in the periphery in skin, subcutaneous tissues, muscles, bones, or within viscera [1-3] including the central and peripheral nervous system [4]. Although IM was first reported in 1954 [5], definitive description with different terminologies such as congenital generalized fibromatosis, multiple congenital mesenchymal tumors, diffuse congenital fibromatosis, and multiple vascular leiomyomas of the newborn [3,6] are sited in literature since 1980.
⁎ Corresponding author. Birmingham Children's Hospital NHS Trust, Steelhouse Ln, Birmingham B4 6NH, United Kingdom. Tel.: +44 0121 333 8090; fax: +44 0121 333 8081. E-mail address: [email protected] (D.H. Parikh). 0022-3468/$ – see front matter © 2008 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2008.06.046
Two types of IM with characteristic firm rubbery nodules both with similar histologic appearances have been described as (a) solitary type, involving the skin, muscles, and subcutaneous tissue, is usually a benign self-limiting disorder; however, a case of destructive proliferation of the subcutaneous myofibroblastic nodules has been reported [7], and (b) commonly reported multifocal variety, involving the subcutaneous tissue alone, or the musculoskeletal system, viscera as well as subcutaneous tissue. Surgical management of IM involving the hilum of the lung and a multifocal visceral component involving only the left lung parenchyma is described in this report. An infantile mediastinal soft tissue mass causing symptoms of tracheobronchial obstruction that resulted in a curative surgical resection and long-term survival in a multifocal visceral IM is to our knowledge the first reported case. The report
E30
M. Short et al.
reviews English literature to discuss the management options and diagnostic difficulties.
1. Case report A 4-week-old boy, with noticeably noisy breathing, a degree of respiratory distress with tachypnea, subcostal recession, and a hyperinflated chest, was referred from a peripheral pediatric hospital. He was born at 37 weeks with a birth weight of 2835 g and after an uncomplicated pregnancy. The family history was unremarkable. Although at birth a short-lasting episode of cyanosis was observed, he was subsequently discharged home after a period of observation. He was thriving at home, until readmission with respiratory distress and stridor. Clinical examination identified decreased air entry on the entire left lung, wheeze, and oxygen saturations between 88% and 91% in air. A chest x-ray showed hyperinflation of the entire left lung with mediastinal shift to the right. Computerized tomography of the chest with intravenous contrast showed emphysema of the entire left lung with mediastinal shift and atelectasis in the right upper lobe. There was some evidence of a mediastinal mass in the left paratracheal region but no evidence of a pulmonary artery sling. Magnetic resonance imaging confirmed the presence of a soft tissue echogenic mass in the hilum compressing the left main bronchus and extending superiorly. An echocardiogram was normal. A ventilation-perfusion (V/Q) scan showed no ventilation and very little perfusion (9%) of the left lung (Fig. 1). An angiocardiogram revealed a narrowed left pulmonary artery in the region of the hilum (Fig. 2). A flexible fiber-optic bronchoscopy showed a completely flattened but negotiable left main bronchus in the region of the left pulmonary artery, beyond which the bronchi appeared normal. A skeletal survey was unremarkable. An exploratory thoracotomy was performed with a view to achieve diagnosis and, if possible, to excise the soft tissue mass that was causing compression. A firm plaquelike mass was identified in the hilum of the left lung engulfing the main pulmonary artery and bronchus. During the dissection of the pulmonary artery, it became apparent that the artery was
Fig. 2 Cardiac catheterization with pulmonary angiogram. The angiogram was undertaken as magnetic resonance imaging was suggestive of a vascular mediastinal lesion. This shows a narrow left pulmonary artery as indicated by the line.
intimately involved in the mass. An accidental injury and intraoperative hemorrhage necessitated ligation of the left pulmonary artery inside the pericardium. Ligation of the veins and bronchus was possible, proximal to the soft tissue tumor to achieve adequate resection. The lack of function in the left lung, as suggested by V/Q scan, and ligation of pulmonary artery to control bleeding led to an intraoperative decision to perform a pneumonectomy. Histologic examination of the lesion showed a biphasic pattern comprising interlacing fascicles of spindle cells and more cellular vascular areas resembling hemangiopericytoma. Secondary changes including focal coagulative necrosis and calcification were evident. The tumor protruded into the bronchial lumen and penetrated the wall into the peribronchial hilar soft tissue. The tumor also encircled the portion of the pulmonary vein, but it did not compromise or involve the lumen. Immunologic stains showed immunoreactivity of the spindle cells to actin, vimentin, and CD34. Occasional cells were positive to desmin. The cellular areas were positive to CD34 but negative to actin, desmin, and vascular markers (F8 related-antigen, Ulex, and CD31). These findings led to the diagnosis of infantile myofibromatosis. The child's postoperative course was uncomplicated, and he was discharged after 6 days. At follow-up, he is thriving with no respiratory symptoms and was treated prophylactically with antireflux medications. There has been no recurrence reported at 5-year consecutive magnetic resonance imaging of his chest.
2. Discussion Fig. 1 Ventilation-perfusion scan. The V/Q scan suggested loss of function in the emphysematous left lung.
Clinical presentations of visceral IM are site-specific, multifocal, related to compression of the surrounding
Mediastinal and pulmonary infantile myofibrosis structures, and occasionally have been mistaken with hemangioma because of increased vascularity [3]. Invariably, the visceral IM is associated with superficial nodules, and therefore, the diagnosis can be achieved by the biopsy of the peripheral nodules. The multifocal visceral IM should be investigated for the bony lesions primarily by a skeletal survey, and additional imaging depends on the clinical indications [8]. In our case, clinically, radiologically, and histologically, only one lung and hilum was affected with IM, and therefore, the diagnosis was not possible without major intervention. This case is unusual as no other foci of IM were identified. Electron microscopic studies and cytoplasmic labeling of spindle-shaped cells using fluorescein-conjugated antismooth muscle antibody have confirmed myofibroblast as the originating tumor cell [9]. The histologic IM shows an angiocentric-angiogenic proliferative disorder of myofibroblasts [10]. The histologic diagnosis can be confusing and requires immunohistochemical staining with actin, vimentin, CD34, desmin, and vascular markers. The prognosis is significantly less favorable and with reported associated mortality in visceral IM with pulmonary involvement. In one literature review, mortality (15.5%) was recorded only in visceral and/or pulmonary IM cases [11]. Roggli et al [12] reviewed 16 patients with pulmonary IM with reported survival in only 2 cases; the mortality in 5 of their cases was because of bronchopneumonia or progressive respiratory distress. Our case was carefully followed up at long-term for both recurrences locally as well as in other sites for its multifocal occurrence. The management of an infantile IM essentially needs careful monitoring once the diagnosis is made. Most lesions are known to regress spontaneously; therefore, surgical intervention is reserved for those who are symptomatic or when vital structures are threatened. However, the regression of the tumor after partial excision was recorded to be in the range between 7% and 10.6% [13]. Treatment options other than surgery in difficult unresectable or recurrent cases
E31 include local glucocorticoid injections [14], chemotherapy, and radiotherapy; all of these have been tried in children without proven success [15].
References [1] Enzinger FM, Weiss SW. Infantile myofibromatosis. Soft tissue tumours. Mosby: St Louis; 1983. p. 78-83. [2] Rosenburg HS, Stenback WA, Spjut JH. The fibromatoses of infancy and childhood. Perspect Pathol 1978;4:274-83. [3] Wiswell TE, Sakas EL, Stephenson SR, et al. Infantile myofibromatosis. Pediatrics 1985;76:981-4. [4] Wada H, Akiyama H, Seki H, et al. Spinal canal involvement in infantile myofibromatosis: case report and review of the literature. J Paediatr Hematol Oncol 1998;20(4):353-6. [5] Stout AP. Juvenile fibromatosis. Cancer 1954;7:953-78. [6] Chung EB, Enzinger FM. Infantile myofibromatosis. Cancer 1981;48: 1807-18. [7] Molnar P, Olah E, Miko TL, et al. Aggressive infantile myofibromatosis: report of a case of a clinically progressive congenital multiple fibromatosis. Med Pediatr Oncol 1986;14:332-7. [8] Davies RS, Carty H, Pierro A. Infantile myofibromatosis—a review. Br J Radiol 1994;67:619-23. [9] Benjamin SP, Mercer RD, Hawk WA. Myofibroblastic contraction in spontaneous regression of multiple congenital mesenchymal hamartomas. Cancer 1977;40:2343-52. [10] Coffin CM, Neilson KA, Ingels S, et al. Congenital generalised fibromatosis: a disseminated angiocentric myofibromatosis. Pediatr Pathol Lab Med 1995;15:571-87. [11] Thunnissen BT, Bax NM, Rovekamp MH, et al. Infantile myofibromatosis: an unusual presentation and a review of the literature. Eur J Pediatr Surg 1993;3:179-81. [12] Roggli Vl, Kim HS, Hawkins E. Congenital generalised fibromatosis with visceral involvement. Cancer 1980;45:954-60. [13] Salamah MM, Hammoudi SM, Sadi ARM. Infantile myofibromatosis. J Perdiatr Surg 1988;23:975-7. [14] Licbel SA, Wara WM, Hill DR, et al. Desmoid tumours: local control and patterns of relapse following radiation therapy. Int J Radiat Oncol Biol Phys 1981;7:305-10. [15] Raney B, Evans A, Granowetter L, et al. Non-surgical management of children with recurrent or unresectable fibromatosis. Pediatrics 1987;79:394-8.
www.elsevier.com/locate/jpedsurg
Mediastinal and pulmonary infantile myofibromatosis: an unusual surgical presentation Melissa Short a , A. Dramis a , P. Ramani b , Dakshesh H. Parikh a,⁎ a
Department of Pediatric Surgery, Birmingham ChildrenTs Hospital, Steelhouse Ln, Birmingham B4 6NH, United Kingdom Department of Histopathology, Bristol Royal Infirmary, Bristol BS1 3NU, United Kingdom
b
Received 17 December 2007; revised 21 June 2008; accepted 22 June 2008
Key words: Visceral infantile myofibromatosis; Children; Pneumonectomy; Emphysematous left lung; Stridor
Abstract A 4-week-old boy was extensively investigated for stridor and respiratory distress and was found to have a soft tissue mass superior to the left hilum and emphysema of the entire left lung. An exploratory thoracotomy was undertaken for diagnosis and possibly to improve respiratory distress. Intraoperatively, a firm plaquelike mass was identified encasing the entire hilum including left pulmonary artery and left main bronchus. It became apparent that a left pneumonectomy was needed to be performed to resect the tumor completely and achieve hemostasis. Histopathologic examination revealed infantile myofibromatosis with multiple foci within the entire lung parenchyma as well as in the hilar mass. The child is completely recurrence-free and symptom-free after 6 years of follow-up. The literature review was carried out to discuss management of this rare but benign and surgically challenging condition. © 2008 Elsevier Inc. All rights reserved.
Infantile myofibromatosis (IM) is a rare mesenchymal disorder with an unknown etiology, where tumors are detected in the periphery in skin, subcutaneous tissues, muscles, bones, or within viscera [1-3] including the central and peripheral nervous system [4]. Although IM was first reported in 1954 [5], definitive description with different terminologies such as congenital generalized fibromatosis, multiple congenital mesenchymal tumors, diffuse congenital fibromatosis, and multiple vascular leiomyomas of the newborn [3,6] are sited in literature since 1980.
⁎ Corresponding author. Birmingham Children's Hospital NHS Trust, Steelhouse Ln, Birmingham B4 6NH, United Kingdom. Tel.: +44 0121 333 8090; fax: +44 0121 333 8081. E-mail address: [email protected] (D.H. Parikh). 0022-3468/$ – see front matter © 2008 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2008.06.046
Two types of IM with characteristic firm rubbery nodules both with similar histologic appearances have been described as (a) solitary type, involving the skin, muscles, and subcutaneous tissue, is usually a benign self-limiting disorder; however, a case of destructive proliferation of the subcutaneous myofibroblastic nodules has been reported [7], and (b) commonly reported multifocal variety, involving the subcutaneous tissue alone, or the musculoskeletal system, viscera as well as subcutaneous tissue. Surgical management of IM involving the hilum of the lung and a multifocal visceral component involving only the left lung parenchyma is described in this report. An infantile mediastinal soft tissue mass causing symptoms of tracheobronchial obstruction that resulted in a curative surgical resection and long-term survival in a multifocal visceral IM is to our knowledge the first reported case. The report
E30
M. Short et al.
reviews English literature to discuss the management options and diagnostic difficulties.
1. Case report A 4-week-old boy, with noticeably noisy breathing, a degree of respiratory distress with tachypnea, subcostal recession, and a hyperinflated chest, was referred from a peripheral pediatric hospital. He was born at 37 weeks with a birth weight of 2835 g and after an uncomplicated pregnancy. The family history was unremarkable. Although at birth a short-lasting episode of cyanosis was observed, he was subsequently discharged home after a period of observation. He was thriving at home, until readmission with respiratory distress and stridor. Clinical examination identified decreased air entry on the entire left lung, wheeze, and oxygen saturations between 88% and 91% in air. A chest x-ray showed hyperinflation of the entire left lung with mediastinal shift to the right. Computerized tomography of the chest with intravenous contrast showed emphysema of the entire left lung with mediastinal shift and atelectasis in the right upper lobe. There was some evidence of a mediastinal mass in the left paratracheal region but no evidence of a pulmonary artery sling. Magnetic resonance imaging confirmed the presence of a soft tissue echogenic mass in the hilum compressing the left main bronchus and extending superiorly. An echocardiogram was normal. A ventilation-perfusion (V/Q) scan showed no ventilation and very little perfusion (9%) of the left lung (Fig. 1). An angiocardiogram revealed a narrowed left pulmonary artery in the region of the hilum (Fig. 2). A flexible fiber-optic bronchoscopy showed a completely flattened but negotiable left main bronchus in the region of the left pulmonary artery, beyond which the bronchi appeared normal. A skeletal survey was unremarkable. An exploratory thoracotomy was performed with a view to achieve diagnosis and, if possible, to excise the soft tissue mass that was causing compression. A firm plaquelike mass was identified in the hilum of the left lung engulfing the main pulmonary artery and bronchus. During the dissection of the pulmonary artery, it became apparent that the artery was
Fig. 2 Cardiac catheterization with pulmonary angiogram. The angiogram was undertaken as magnetic resonance imaging was suggestive of a vascular mediastinal lesion. This shows a narrow left pulmonary artery as indicated by the line.
intimately involved in the mass. An accidental injury and intraoperative hemorrhage necessitated ligation of the left pulmonary artery inside the pericardium. Ligation of the veins and bronchus was possible, proximal to the soft tissue tumor to achieve adequate resection. The lack of function in the left lung, as suggested by V/Q scan, and ligation of pulmonary artery to control bleeding led to an intraoperative decision to perform a pneumonectomy. Histologic examination of the lesion showed a biphasic pattern comprising interlacing fascicles of spindle cells and more cellular vascular areas resembling hemangiopericytoma. Secondary changes including focal coagulative necrosis and calcification were evident. The tumor protruded into the bronchial lumen and penetrated the wall into the peribronchial hilar soft tissue. The tumor also encircled the portion of the pulmonary vein, but it did not compromise or involve the lumen. Immunologic stains showed immunoreactivity of the spindle cells to actin, vimentin, and CD34. Occasional cells were positive to desmin. The cellular areas were positive to CD34 but negative to actin, desmin, and vascular markers (F8 related-antigen, Ulex, and CD31). These findings led to the diagnosis of infantile myofibromatosis. The child's postoperative course was uncomplicated, and he was discharged after 6 days. At follow-up, he is thriving with no respiratory symptoms and was treated prophylactically with antireflux medications. There has been no recurrence reported at 5-year consecutive magnetic resonance imaging of his chest.
2. Discussion Fig. 1 Ventilation-perfusion scan. The V/Q scan suggested loss of function in the emphysematous left lung.
Clinical presentations of visceral IM are site-specific, multifocal, related to compression of the surrounding
Mediastinal and pulmonary infantile myofibrosis structures, and occasionally have been mistaken with hemangioma because of increased vascularity [3]. Invariably, the visceral IM is associated with superficial nodules, and therefore, the diagnosis can be achieved by the biopsy of the peripheral nodules. The multifocal visceral IM should be investigated for the bony lesions primarily by a skeletal survey, and additional imaging depends on the clinical indications [8]. In our case, clinically, radiologically, and histologically, only one lung and hilum was affected with IM, and therefore, the diagnosis was not possible without major intervention. This case is unusual as no other foci of IM were identified. Electron microscopic studies and cytoplasmic labeling of spindle-shaped cells using fluorescein-conjugated antismooth muscle antibody have confirmed myofibroblast as the originating tumor cell [9]. The histologic IM shows an angiocentric-angiogenic proliferative disorder of myofibroblasts [10]. The histologic diagnosis can be confusing and requires immunohistochemical staining with actin, vimentin, CD34, desmin, and vascular markers. The prognosis is significantly less favorable and with reported associated mortality in visceral IM with pulmonary involvement. In one literature review, mortality (15.5%) was recorded only in visceral and/or pulmonary IM cases [11]. Roggli et al [12] reviewed 16 patients with pulmonary IM with reported survival in only 2 cases; the mortality in 5 of their cases was because of bronchopneumonia or progressive respiratory distress. Our case was carefully followed up at long-term for both recurrences locally as well as in other sites for its multifocal occurrence. The management of an infantile IM essentially needs careful monitoring once the diagnosis is made. Most lesions are known to regress spontaneously; therefore, surgical intervention is reserved for those who are symptomatic or when vital structures are threatened. However, the regression of the tumor after partial excision was recorded to be in the range between 7% and 10.6% [13]. Treatment options other than surgery in difficult unresectable or recurrent cases
E31 include local glucocorticoid injections [14], chemotherapy, and radiotherapy; all of these have been tried in children without proven success [15].
References [1] Enzinger FM, Weiss SW. Infantile myofibromatosis. Soft tissue tumours. Mosby: St Louis; 1983. p. 78-83. [2] Rosenburg HS, Stenback WA, Spjut JH. The fibromatoses of infancy and childhood. Perspect Pathol 1978;4:274-83. [3] Wiswell TE, Sakas EL, Stephenson SR, et al. Infantile myofibromatosis. Pediatrics 1985;76:981-4. [4] Wada H, Akiyama H, Seki H, et al. Spinal canal involvement in infantile myofibromatosis: case report and review of the literature. J Paediatr Hematol Oncol 1998;20(4):353-6. [5] Stout AP. Juvenile fibromatosis. Cancer 1954;7:953-78. [6] Chung EB, Enzinger FM. Infantile myofibromatosis. Cancer 1981;48: 1807-18. [7] Molnar P, Olah E, Miko TL, et al. Aggressive infantile myofibromatosis: report of a case of a clinically progressive congenital multiple fibromatosis. Med Pediatr Oncol 1986;14:332-7. [8] Davies RS, Carty H, Pierro A. Infantile myofibromatosis—a review. Br J Radiol 1994;67:619-23. [9] Benjamin SP, Mercer RD, Hawk WA. Myofibroblastic contraction in spontaneous regression of multiple congenital mesenchymal hamartomas. Cancer 1977;40:2343-52. [10] Coffin CM, Neilson KA, Ingels S, et al. Congenital generalised fibromatosis: a disseminated angiocentric myofibromatosis. Pediatr Pathol Lab Med 1995;15:571-87. [11] Thunnissen BT, Bax NM, Rovekamp MH, et al. Infantile myofibromatosis: an unusual presentation and a review of the literature. Eur J Pediatr Surg 1993;3:179-81. [12] Roggli Vl, Kim HS, Hawkins E. Congenital generalised fibromatosis with visceral involvement. Cancer 1980;45:954-60. [13] Salamah MM, Hammoudi SM, Sadi ARM. Infantile myofibromatosis. J Perdiatr Surg 1988;23:975-7. [14] Licbel SA, Wara WM, Hill DR, et al. Desmoid tumours: local control and patterns of relapse following radiation therapy. Int J Radiat Oncol Biol Phys 1981;7:305-10. [15] Raney B, Evans A, Granowetter L, et al. Non-surgical management of children with recurrent or unresectable fibromatosis. Pediatrics 1987;79:394-8.