Primary pulmonary rhabdomyosarcoma arising within cystic adenomatoid malformation: A case report and review of the literature

Primary pulmonary rhabdomyosarcoma arising within cystic adenomatoid malformation: A case report and review of the literature

Primary Pulmonary Rhabdomyosarcoma Arising Within Cystic Adenomatoid Malformation: A Case Report and Review of the Literature ¨ zcan, Ahmet C¸elik, Ze...

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Primary Pulmonary Rhabdomyosarcoma Arising Within Cystic Adenomatoid Malformation: A Case Report and Review of the Literature ¨ zcan, Ahmet C¸elik, Zeliha Ural, Ali Veral, Gu¨ls¸en Kandilog˘lu, and Erol Balık By Cos¸kun O Bornova-I˙zmir, Turkey

The current report describes a 13-month-old boy with primary pulmonary rhabdomyosarcoma (RMS) that originated within a congenital cystic adenomatoid malformation (CCAM). To the best of our knowledge, he is the youngest patient of all primary pulmonary RMS cases reported in the English-language literature. The tumor, localized in left upper lobe, was removed completely, and histologic examination showed embryonal subtype. Postoperative systemic chemotherapy was carried out. Recent evaluation 15 months after resection has not identified any residual or recurrent

disease. Primary pulmonary RMS, although very rare in the pediatric age group, should be considered in young patients with solitary pulmonary masses and associated cystic lesions. J Pediatr Surg 36:1062-1065. Copyright © 2001 by W.B. Saunders Company.


RIMARY PULMONARY neoplasms are very rare, and primary pulmonary rhabdomyosarcoma (RMS) is one of the rarest, accounting for only 0.5% of childhood RMS and for 4.4% of childhood pulmonary neoplasms.1 The current study describes the clinical, radiographic, and morphologic features of primary pulmonary RMS of the lung in a child and reviews the literature.

The cut surfaces of the tumor had extensive solid areas of necrosis and some mixed areas of small cysts. Microscopically, cystic areas were lined by pseudostratified respiratory epithelium. Blastematous cells composed of oval and small nuclei and pleomorphic, large, eosinophilic rhabdomyoblasts with cytoplasmic striations were seen in the solid areas. Rhabdomyoblasts showed cambium layer effect into the wall of some of the surrounding cysts (Fig 4) and strong immune reactivity against desmin. No evidence of lymphatic or pleural involvement was noted.



A 13-month old boy with a 3-month history of persistent cough, fever, and dyspnea was admitted to a pediatric surgical center for a left pleural effusion (Fig 1). There he had been treated with antibiotherapy and tube thoracostomy with a misdiagnosis of empyma. Chest radiograph after completion of treatment showed an air cyst together with a large mass in the left hemithorax (Fig 2), and he was referred to our department for further evaluation and treatment. Computerized tomography showed a large cyst with multiple septations in the left upper lobe and collapse of the rest of the lung with contralateral deviation of the mediastinum (Fig 3). Results of additional diagnostic investigations were negative. The child underwent surgery that found multicystic mass (10 ⫻ 8 cm) that originated from the anterior segment of the left upper lobe without local invasion; segmentectomy with complete removal of the tumor and pleural and mediastinal lymph node biopsies then were performed. Pathologic examination showed pulmonary RMS, arising in cystic adenomatoid malformation and no local invasion. The child has been on systemic chemotherapy for 8 weeks with vincristine, Adriamycin, and ifosfamide. Recent evaluation 15 months after resection has not identified any residual or recurrent disease.

From Ege University Faculty of Medicine and the Departments of Pediatric Surgery and Pathology, Bornova-I˙zmir, Turkey. ¨ zcan, Ege University, Faculty Address reprint requests to Cos¸kun O of Medicine, Department of Pediatric Surgery, 35100 Bornova-I˙zmir, Turkey. Copyright © 2001 by W.B. Saunders Company 0022-3468/01/3607-0021$35.00/0 doi:10.1053/jpsu.2001.24747

Rhabdomyosarcoma is the most common soft tissue sarcoma in childhood and occurs commonly in the head, neck, and urogenital organs. Primary pulmonary neoplasms are unusual in the pediatric age group, and RMS of the lung is one of the rarest. It accounts only 0.5% of childhood RMS2, and for 4.4% of childhood pulmonary neoplasms.1 Only 3 of 2,747 children included in the Intergroup Rhabdomyosarcoma Study had a primary pulmonary lesion.2-4 In review of the English-language literature, we found 29 (including our own) cases of primary pulmonary RMS so far1-21 (Table 1). Noda et al5 reported 4 cases in the Japanese literature in 1995.5 The most common symptoms at onset are cough, fever, and dyspnea especially in patients with cystic lesions as a result of spontaneous pneumothorax. In 26 cases in which the sex was documented, 11 were boys, and 15 were girls. Bilateral cases are not reported; 14 lesions were on the left, and 13 lesions were on the right. In 21 cases in which the pathologic subtype was documented, 16 were embryonal, 2 were alveolar, and 3 were undifferentiated. Fifteen cases arose in a preexisting pulmonary cystic malformation, 7 of which (including our own) were in CCAM, 2 were in bronchogenic cysts, and 6 were in nonspeci-


Journal of Pediatric Surgery, Vol 36, No 7 (July), 2001: pp 1062-1065

INDEX WORDS: Rhabdomyosarcoma, lung, lung cysts, congenital cystic adenomatoid malformation.


Fig 1.

Initial chest radiograph shows a left pleural effusion.

fied cysts. Our case is the seventh case arising in CCAM, and he is the youngest patient of all reported primary pulmonary RMS cases. According to the follow-up data (3 months to 12 years) for the 28 reported cases, 19 patients were alive. In 10 of 28 patients, metastatic disease developed in the brain or ipsilateral lung and cavity, but only 3 patients are alive. Noda et al5 reported that serum neuron-specific enolase levels in these cases might be helpful in diagnosis of metastasis and recurrence. Among 15 patients with associated cystic lesions, 11 (73%) are disease free, 3 (20%) are dead of disease and 1 is alive with disease, whereas in the 13 cases without detectable lung cysts, 6 patients (46%) are free of disease, 5 (38%) are dead of disease, 1 is alive with disease, and 1 is lost to follow-up. Some investigators recommend that primary pulmonary RMS can be divided into

Fig 2. Chest radiograph after completion of treatment with thoracostomy shows complete resolution of pleural effusion, and an air-filled cyst together with a large solid mass in the left hemithorax became apparent.


Fig 3. Computerized tomography scan shows a large solid mass in the left upper lobe and collapse of the rest of the lung with contralateral deviation of the mediastinum

2 main groups: tumor in the normal lung and tumor in the cystic lesion of the lung.5 Although large series with long-term results are required to make objective comments, the prognosis in cases associated with cystic lesions seems to be more favorable than the ones without. The occurrence of malignant degeneration in congenital cystic malformations of the lung has been controversial. Although the etiologic factors of the pulmonary RMS are unknown, pulmonary developmental abnormalities may play a pathogenic role. Hartman and Shochat6 reported that only 4% of pulmonary tumors were associated with congenital cystic malformations. The tumors developing within these malformations included various sarcomas, pulmonary blastoma, bronchogenic carcinoma, and mesenchymoma.1,6 Two main hypotheses regarding the origin of RMS in CCAM have been suggested. Some investigators argued

Fig 4. Rhabdomyoblasts (r) beneath the cystic spaces (cs) lined by respiratory epithelium (H&E, original magnification ⴛ 100).



Table 1. Primary Pulmonary Rhabdomyosarcoma: Review of the Literature Study Grosfeld et al18 Fallonetal14 Ueda et al9

Sex/age (mo) Not reported F/72 M/18


Associated Lung Cyst





Outcome / Follow-Up (mo)

Not reported


Not reported

Not reported

Not reported

Not reported

Not reported


Right bronchus LUL

Biopsy-unresectable Lobectomy

Embryonal Embryonal


AWD / 33 DF / 36



Embryonal Embryonal


Thomas et al21 Krous and Sexauer16 Christ et al,2 Andrassy et al,3 Maurer et al4 Hartman and Shochat6

M/21 F/30

Fever Fever, croup, dyspnea Cough Cough, fever


Not reported


Not reported

Lobectomy Lobectomy with residue Biopsy



DF / 60 DOD / 6 (Brain and local relapse after 6 mo) DOD / 16 (Local relapse)


Not reported


Left lung




DF / 72

M/84 M/122 F/156

Not reported Cough, fever Cough, chest pain

No No No

LUL Left bronchus Right lung

Lobectomy Left PNMT Right PNMT

Undifferentiated Undifferentiated Embryonal


Williams17 Allan et al8

M/21 F/21 F/30

Dyspnea Dyspnea-PTX Dyspnea-PTX

CCAM Cyst Cyst


Lobectomy Lobectomy Lobectomy

Embryonal Not specified Not specified


Shariff et al7 Hendlund et al20 Murphy et al13 McDermott et al15

F/15 F/22 F/18 F/24 F/36 M/42 M/36 F/24



Lobectomy Lobectomy Lobectomy Wedge resection Lobectomy Lobectomy Resection Resection

Not specified Not specified Embryonal Embryonal Embryonal Not specified Embryonal Embryonal


Hancock et al1 Bogers et al12 Doval et al19 Noda et al5

?/24 ?/18 M/10 yr M/22

Cough, fever Dyspnea-PTX Croup Dyspnea-PTX Dyspnea-PTX Fever, cough Cough, pyrexia Wheezing, dyspnea Not reported Dyspnea Cough, chest pain Wheezing, fever

LTF / 10 DF / 24 DF / 72 (Brain relapse after 48 mo) DF / 24 DF / 48 AWD / 11 (Local relapse 5th and 11th mo) DF / 3 DF / 9 DF / 144 DF / 12 DF / 3 DF / 6 DOD (Brain relapse) DOD / 5 (Brain relapse)

No LE No No

LLL LUL Left lung RUL

Lobectomy Local resection Broncoscopy - biopsy Lobectomy

Not reported Not reported Embryonal Alveolar


Schiavetti et al11 d’Agustine et al10

F/30 F/18

Cough Cough, fever, dyspnea Wheezing, cough, dyspnea Cough, fever, dyspnea

No No


Lobectomy Lobectomy

Embryonal Embryonal







DOD DOD / 24 (Local relapse) DF* / 36 DF / 38 (Brain relapse after 6 mo, local relapse 11th and 24th mo) DOD / 14 (Brain relapse) DOD / 3 (Local relapse after 2 mo) DF / 72






DF / 15

F/22 Current case


Abbreviations: S, surgery; CT, chemotherapy; RT, radiotherapy; PTX, pneumothorax; CCAM, congenital cystic adenomatoid malformation; BC, broncogenic cyst; LE, localized emphysema; LUL, left upper lobe; RLL, right lower lobe; RML, right middle lobe; LLL, left lower lobe; RUL, right upper lobe; PNMT, pneumonectomy; DF, disease free; DOD, dead of disease; AWD, alive with disease; LTF, lost to follow-up, ?, not reported. *Exitus in traffic accident, autopsy: disease free.

that RMS arises from well-differentiated but poorly organized skeletal muscle fibers present in some subtype of CCAM,22,23 whereas the others favor a hypotheses of rabdomyoblastic differentiation of the cambium layer.7-9,24 Primary pulmonary RMS, although very rare, should be considered in the differential diagnosis of childhood

lung masses, and the simultaneous presence of cystic lesions could be considered a favorable prognostic feature. Although multimodal therapy remains inevitable, total removal of the tumor should be stressed in operative management so that the recurrence and metastasis can be controlled.

REFERENCES 1. Hancock BJ, Di Lorenzo M, Youssef S, et al: Childhood primary pulmonary neoplasms. J Pediatr Surg 28:1133-1136, 1993 2. Crist WM, Raney RB, Newton W, et al: Intrathoracic soft tissue sarcomas in children. Cancer 50:598-604, 1982 3. Andrassy RJ, Wiener ES, Raney RB, et al: Thoracic sarcomas in children. Ann Surg 227: 170-173, 1998 4. Maurer HM, Moon T, Donaldson M, et al: The intergroup rhabdomyosarcoma study: A preliminary report. Cancer 40:2015-2026, 1977 5. Noda T, Todani T, Watanabe Y, et al: Alveolar rhabdomyosarcoma of the lung in a child. J Pediatr Surg 30:1607-1608, 1995

6. Hartman GE, Shochat SJ: Primary pulmonary neoplasms of childhood: A review. Ann Thorac Surg 36:108-119 1983 7. Shariff S, Thomas J, Shetty N, et al: Primary pulmonary rhabdomyosarcoma in a child, with a review of literature. J Surg Oncol 38:261-264, 1998 8. Allan BT, Day DL, Dehner LP: Primary pulmonary rhabdomyosarcoma of the lung in children: Report of two cases presenting with spontaneous pneumothorax. Cancer; 59:1005-1011, 1987 9. Ueda K, Gruppo R, Unger F, et al: Rhabdomyosarcoma of lung arising in congenital cystic adenomatoid malformation. Cancer 40:383388, 1977


10. d’Agustino S, Bonoldi E, Dante S, et al: Embryonal rhabdomyosarcoma of the lung arising in cystic adenomatoid malformation: Case report and review of the literature. J Pediatr Surg 32:1381-1383, 1997 11. Schiavetti A, Dominici C, Matrunola M, et al: Primary pulmonary rhabdomyosarcoma in childhood: Clinico-biologic features in two cases with review of the literature. Med Pediatr Oncol 26:201-207, 1996 12. Bogers J, Hazebroek F, Molenaar J, et al: Surgical treatment of congenital bronchopulmonary disease in children. Eur J Cardio-thorac Surg 7:117-120, 1993 13. Murphy JJ, Blair GK, Fraser GC, et al: Rhabdomyosarcoma arising within congenital pulmonary cysts: Report of three cases. J Pediatr Surg 27:1364-1367, 1992 14. Fallon G, Schiller M, Kilman JW: Primary pulmonary rhabdomyosarcoma of the bronchus. Ann Thorac Surg 12:650-654, 1971 15. McDermott VGM, Mackenzie S, Hendry GMA: Case report: Primary intrathoracic rhabdomyosarcoma: A rare childhood malignancy. Br J Radiol 66:937-941, 1993 16. Krous HF, Sexauer CL: Embryonal rhabdomyosarcoma arising within a congenital broncogenic cyst in a child. J Pediatr Surg 16:506508, 1981 17. Williams RA: Embryonal rhabdomyosarcoma occurring in cystic adenomatoid malformation. Pediatr Pathol 5:118-119, 1986 18. Grosfeld JL, Clatworthy HW, Newton WA: Combined therapy in childhood rhabdomyosarcoma: An analysis of 42 cases. J Pediatr Surg 4:637-645, 1969


19. Doval DC, Kannan V, Acharya R, et al: Bronchial embryonal rhabdomyosarcoma—A case report. Acta Oncol 33:831-833, 1994 20. Hendlund GL, Bisset III GS, Bove EK: Malignant neoplasms arising in cystic hamartomas of the lung in childhood. Radiology 173:77-79, 1989 21. Thomas WJ, Koenig HM, Ellwanger FR, et al: Primary pulmonary rhabdomyosarcoma in children. Am J Dis Child 135:469-471, 1981 22. Stocker JT: Congenital and development disease, In Hammar D (ed): Pathology of the Lung. Stuttgart, Germany, Springer-Verlag 1988, pp 41-47 23. Buntain WL, Isaacs H Jr, Payne VC, et al: lobar emphysema, cystic adenomatoid malformation, pulmonary sequestration and broncogenic cyst in infancy and childhood: A clinical study group. J Pediatr Surg 9:85-93, 1974 24. Lee SH, Rengachary SS, Paramesh J: Primary pulmonary rhabdomyosarcoma: A case report and review of the literature. Hum Pathol 12:92-96, 1981 25. Cohen M, Emms M, Kaschula ROC: Childhood pulmonary blastoma: A pleuropulmonary variant of the adult-type pulmonary blastoma. Pediatr Pathol 1:737-749, 1991 26. Sheffield EA, Addis BJ, Corrin B, et al: Epithelial hyperplasia and malignant change in congenital lung cysts. J Clin Pathol 40:612614, 1987 27. Kilman JW, Clatworthy HW, Newton WA, et al: Reasonable surgery for rhabdomyosarcoma: A study of 67 cases. Ann Surg 178: 346-351, 1973