Clinical Review & Education
Clinical Challenge | PATHOLOGY
Pyriform Sinus Soft-Tissue Mass Recurring in Esophagus After Excision Alok T. Saini, MD; Juan C. Hernandez-Prera, MD; Marita S. Teng, MD
A
B
C
Figure. A, Axial contrast-enhanced spoiled gradient magnetic resonance image. B and C, Histopathological images. B, Hematoxylin-eosin, original magnification ×20. C, Hematoxylin-eosin, original magnification ×40.
A woman in her 50s presented with dysphagia and frequent throat clearing. A right pyriform sinus mass was seen on fiber-optic laryngoscopy. Computed tomography (CT) and magnetic resonance imaging (MRI) confirmed the finding of a hypopharyngeal mass.
WHAT IS YOUR DIAGNOSIS?
A. Paraganglioma
The patient underwent an endoscopic laser excision. Immunohistochemical stains revealed tumor cells that were focally positive for myogenin and diffusely positive for desmin and myoQuiz at jamaotolaryngology.com
B. Adult rhabdomyoma C. Squamous cell carcinoma
globin. An MRI scan obtained 1 month postoperatively demonstrated a persistent mass or swelling. The
D. Sarcoidosis
patient continued to experience dysphagia, globus, and a choking sensation when coughing. On fiber-optic examination, right pyriform sinus fullness was visualized. During operative laryngoscopy, no mass was identified. An interval MRI demonstrated a 2-cm soft-tissue mass in the cervical esophagus (Figure, A). Using rigid suspension laryngoscopy, we identified a large, smooth-walled ovoid mass herniating from the cervical esophageal opening. A mucosal stalk anchored the mass to the lateral pyriform sinus wall. Endoscopic snare cautery was used to excise the mass. The tumor was welldefined, solitary, tan-red, and composed of sheets of large, round-to-polygonal cells with marked eosinophilic, granular cytoplasm (Figure, B). Most tumor cells exhibited peripherally or centrally located vesicular nuclei with prominent nucleoli. Peripheral intracellular vacuoles indenting the cytoplasm were seen, which represent a processing artifact due to intracellular glycogen loss (Figure, C).
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(Reprinted) JAMA Otolaryngology–Head & Neck Surgery June 2015 Volume 141, Number 6
Copyright 2015 American Medical Association. All rights reserved.
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573
Clinical Review & Education Clinical Challenge
Diagnosis B. Adult rhabdomyoma
Discussion Rhabdomyomas are benign tumors of striated muscle. Rhabdomyomas occur less frequently than rhabdomyosarcomas and account for less than 2% of all striated muscle tumors.1 Rhabdomyomas are classified by location as cardiac and extracardiac. Cardiac rhabdomyomas are more common than extracardiac rhabdomyomas and are the most common cardiac tumor in infants. Cardiac rhabdomyomas are commonly associated with tuberous sclerosis.2 Extracardiac forms can further be divided into 3 morphological subtypes: adult, fetal, and genital. Adult rhabdomyoma (ARM) is the most common and typically presents as a solitary mass in the head and neck region of adults.1,3 Patients are usually older than 40 years (median age, 60 years), and men are affected 3 to 4 times more commonly than women. The tumor is thought to arise from the third and fourth branchial arches, accounting for the head and neck prevalence of this tumor.1 They have been reported to occur in the oral cavity, pharynx, and larynx.3 Symptoms are often related to location and can include airway obstruction, dysphagia, hoarseness, odynophagia, eustachian tube dysfunction, and aspiration. There are no reported instances of rhabdomyoma giving rise to rhabdomyosarcoma; therefore, the treatment of choice for this benign lesion is complete surgical extirpation.4-6 Approximately 7% of ARMs are multifocal at diagnosis.4 Since 1948, 26 cases of multifocal ARM have been reported. Occasionally, the second site becomes evident only years after the initial diagnosis.7 After excision, the local recurrence rate is estimated to be 42% and is presumed to be due to incomplete excision.4 To our knowledge, only 4 cases of esophageal ARM can be found in the literature. The first occurred in an 8-year-old boy and was located in the cervical esophagus.8 The second occurred in a 21-yearARTICLE INFORMATION
REFERENCES
Author Affiliations: Department of Otolaryngology–Head and Neck Surgery, Mount Sinai Hospital, New York, New York (Saini, Teng); Department of Pathology, Mount Sinai Hospital, New York, New York (Hernandez-Prera).
1. Weiss SW, Goldblum JR, eds. Enzinger and Weiss’s Soft Tissue Tumors. 4th ed. St Louis, MO: Mosby; 2001:769-783.
Corresponding Author: Alok T. Saini, MD, Department of Otolaryngology–Head and Neck Surgery, Mount Sinai Hospital, One Gustave L. Levy Place, Box 1189, New York, NY 10128 (aloktsaini @gmail.com).
3. Di Sant’Agnese PA, Knowles DM II. Extracardiac rhabdomyoma: a clinicopathologic study and review of the literature. Cancer. 1980;46(4):780-789.
Section Editor: Edward B. Stelow, MD. Published Online: April 9, 2015. doi:10.1001/jamaoto.2015.0384. Conflict of Interest Disclosures: None reported.
574
old woman and was located in the middle third of the esophagus. Both underwent excision via an open neck exploration. The third case occurred in a 30-year-old man and was located in the distal esophagus. The mass required a lateral thoracotomy for excision.9 The fourth case occurred in a 72-year-old woman who had a symptomatic left aryepiglottic fold rhabdomyoma and an asymptomatic cervical esophageal rhabdomyoma. She underwent an endoscopic laser resection of the laryngeal lesion and later underwent a microsurgical excision of the esophageal lesion via an external approach.5 Macroscopically, these tumors are soft, well-circumscribed, lobulated, and tan-gray lesions.4,5,7 Histologically, they are composed of well-demarcated, unencapsulated lobules with closely packed, large polygonal cells and scant stroma. The tumor cells have a small, round, centrally or peripherally located nucleus with prominent nucleoli and abundant, eosinophilic, granular, or vacuolated cytoplasm. Most tumor cells stain for myoglobin, muscle-specific actin, and desmin, which aids in the differentiation from other tumors with similar appearance (eg, granular cell tumor, hibernoma, oncocytoma, paraganglioma).4 This is the fifth case of esophageal ARM reported. It is unclear if this was persistent disease, recurrence, or a truly separate focus. Nonetheless, to our knowledge, this is the first case of a purely endoluminal esophageal ARM and is the first case treated endoscopically. In all previous cases, patients underwent excision using an external approach. In this case, the tumor was located just inferior to the cricopharyngeus. We felt that complete excision via an external approach would likely result in a functional deficit of swallow and could be complicated by a salivary leak or esophageal stricture. Because this is a benign lesion, we felt it appropriate to consider a minimally invasive, endoscopic resection. While microscopic disease remained, we were able to avoid the morbidity associated with an open surgical resection. Though the recurrence rate may be increased, a recurrence likely will be amenable to another minimally invasive, endoscopic excision.
2. Nadas AS, Ellison RC. Cardiac tumors in infancy. Am J Cardiol. 1968;21(3):363-366.
4. Kapadia SB, Meis JM, Frisman DM, Ellis GL, Heffner DK, Hyams VJ. Adult rhabdomyoma of the head and neck: a clinicopathologic and immunophenotypic study. Hum Pathol. 1993;24(6): 608-617.
6. Liess BD, Zitsch RP III, Lane R, Bickel JT. Multifocal adult rhabdomyoma: a case report and literature review. Am J Otolaryngol. 2005;26(3): 214-217. 7. de Trey LA, Schmid S, Huber GF. Multifocal adult rhabdomyoma of the head and neck manifestation in 7 locations and review of the literature. Case Rep Otolaryngol. 2013;2013(1):758416. 8. Pai GK, Pai PK, Kamath SM. Adult rhabdomyoma of the esophagus. J Pediatr Surg. 1987;22(11):991-992. 9. Roberts F, Kirk AJ, More IA, Butler J, Reid RP. Oesophageal rhabdomyoma. J Clin Pathol. 2000;53 (7):554-557.
5. Koutsimpelas D, Weber A, Lippert BM, Mann WJ. Multifocal adult rhabdomyoma of the head and neck: a case report and literature review. Auris Nasus Larynx. 2008;35(2):313-317.
JAMA Otolaryngology–Head & Neck Surgery June 2015 Volume 141, Number 6 (Reprinted)
Copyright 2015 American Medical Association. All rights reserved.
Downloaded From: http://archotol.jamanetwork.com/ by a J H Quillen College User on 06/18/2015
jamaotolaryngology.com
Clinical Challenge | PATHOLOGY
Pyriform Sinus Soft-Tissue Mass Recurring in Esophagus After Excision Alok T. Saini, MD; Juan C. Hernandez-Prera, MD; Marita S. Teng, MD
A
B
C
Figure. A, Axial contrast-enhanced spoiled gradient magnetic resonance image. B and C, Histopathological images. B, Hematoxylin-eosin, original magnification ×20. C, Hematoxylin-eosin, original magnification ×40.
A woman in her 50s presented with dysphagia and frequent throat clearing. A right pyriform sinus mass was seen on fiber-optic laryngoscopy. Computed tomography (CT) and magnetic resonance imaging (MRI) confirmed the finding of a hypopharyngeal mass.
WHAT IS YOUR DIAGNOSIS?
A. Paraganglioma
The patient underwent an endoscopic laser excision. Immunohistochemical stains revealed tumor cells that were focally positive for myogenin and diffusely positive for desmin and myoQuiz at jamaotolaryngology.com
B. Adult rhabdomyoma C. Squamous cell carcinoma
globin. An MRI scan obtained 1 month postoperatively demonstrated a persistent mass or swelling. The
D. Sarcoidosis
patient continued to experience dysphagia, globus, and a choking sensation when coughing. On fiber-optic examination, right pyriform sinus fullness was visualized. During operative laryngoscopy, no mass was identified. An interval MRI demonstrated a 2-cm soft-tissue mass in the cervical esophagus (Figure, A). Using rigid suspension laryngoscopy, we identified a large, smooth-walled ovoid mass herniating from the cervical esophageal opening. A mucosal stalk anchored the mass to the lateral pyriform sinus wall. Endoscopic snare cautery was used to excise the mass. The tumor was welldefined, solitary, tan-red, and composed of sheets of large, round-to-polygonal cells with marked eosinophilic, granular cytoplasm (Figure, B). Most tumor cells exhibited peripherally or centrally located vesicular nuclei with prominent nucleoli. Peripheral intracellular vacuoles indenting the cytoplasm were seen, which represent a processing artifact due to intracellular glycogen loss (Figure, C).
jamaotolaryngology.com
(Reprinted) JAMA Otolaryngology–Head & Neck Surgery June 2015 Volume 141, Number 6
Copyright 2015 American Medical Association. All rights reserved.
Downloaded From: http://archotol.jamanetwork.com/ by a J H Quillen College User on 06/18/2015
573
Clinical Review & Education Clinical Challenge
Diagnosis B. Adult rhabdomyoma
Discussion Rhabdomyomas are benign tumors of striated muscle. Rhabdomyomas occur less frequently than rhabdomyosarcomas and account for less than 2% of all striated muscle tumors.1 Rhabdomyomas are classified by location as cardiac and extracardiac. Cardiac rhabdomyomas are more common than extracardiac rhabdomyomas and are the most common cardiac tumor in infants. Cardiac rhabdomyomas are commonly associated with tuberous sclerosis.2 Extracardiac forms can further be divided into 3 morphological subtypes: adult, fetal, and genital. Adult rhabdomyoma (ARM) is the most common and typically presents as a solitary mass in the head and neck region of adults.1,3 Patients are usually older than 40 years (median age, 60 years), and men are affected 3 to 4 times more commonly than women. The tumor is thought to arise from the third and fourth branchial arches, accounting for the head and neck prevalence of this tumor.1 They have been reported to occur in the oral cavity, pharynx, and larynx.3 Symptoms are often related to location and can include airway obstruction, dysphagia, hoarseness, odynophagia, eustachian tube dysfunction, and aspiration. There are no reported instances of rhabdomyoma giving rise to rhabdomyosarcoma; therefore, the treatment of choice for this benign lesion is complete surgical extirpation.4-6 Approximately 7% of ARMs are multifocal at diagnosis.4 Since 1948, 26 cases of multifocal ARM have been reported. Occasionally, the second site becomes evident only years after the initial diagnosis.7 After excision, the local recurrence rate is estimated to be 42% and is presumed to be due to incomplete excision.4 To our knowledge, only 4 cases of esophageal ARM can be found in the literature. The first occurred in an 8-year-old boy and was located in the cervical esophagus.8 The second occurred in a 21-yearARTICLE INFORMATION
REFERENCES
Author Affiliations: Department of Otolaryngology–Head and Neck Surgery, Mount Sinai Hospital, New York, New York (Saini, Teng); Department of Pathology, Mount Sinai Hospital, New York, New York (Hernandez-Prera).
1. Weiss SW, Goldblum JR, eds. Enzinger and Weiss’s Soft Tissue Tumors. 4th ed. St Louis, MO: Mosby; 2001:769-783.
Corresponding Author: Alok T. Saini, MD, Department of Otolaryngology–Head and Neck Surgery, Mount Sinai Hospital, One Gustave L. Levy Place, Box 1189, New York, NY 10128 (aloktsaini @gmail.com).
3. Di Sant’Agnese PA, Knowles DM II. Extracardiac rhabdomyoma: a clinicopathologic study and review of the literature. Cancer. 1980;46(4):780-789.
Section Editor: Edward B. Stelow, MD. Published Online: April 9, 2015. doi:10.1001/jamaoto.2015.0384. Conflict of Interest Disclosures: None reported.
574
old woman and was located in the middle third of the esophagus. Both underwent excision via an open neck exploration. The third case occurred in a 30-year-old man and was located in the distal esophagus. The mass required a lateral thoracotomy for excision.9 The fourth case occurred in a 72-year-old woman who had a symptomatic left aryepiglottic fold rhabdomyoma and an asymptomatic cervical esophageal rhabdomyoma. She underwent an endoscopic laser resection of the laryngeal lesion and later underwent a microsurgical excision of the esophageal lesion via an external approach.5 Macroscopically, these tumors are soft, well-circumscribed, lobulated, and tan-gray lesions.4,5,7 Histologically, they are composed of well-demarcated, unencapsulated lobules with closely packed, large polygonal cells and scant stroma. The tumor cells have a small, round, centrally or peripherally located nucleus with prominent nucleoli and abundant, eosinophilic, granular, or vacuolated cytoplasm. Most tumor cells stain for myoglobin, muscle-specific actin, and desmin, which aids in the differentiation from other tumors with similar appearance (eg, granular cell tumor, hibernoma, oncocytoma, paraganglioma).4 This is the fifth case of esophageal ARM reported. It is unclear if this was persistent disease, recurrence, or a truly separate focus. Nonetheless, to our knowledge, this is the first case of a purely endoluminal esophageal ARM and is the first case treated endoscopically. In all previous cases, patients underwent excision using an external approach. In this case, the tumor was located just inferior to the cricopharyngeus. We felt that complete excision via an external approach would likely result in a functional deficit of swallow and could be complicated by a salivary leak or esophageal stricture. Because this is a benign lesion, we felt it appropriate to consider a minimally invasive, endoscopic resection. While microscopic disease remained, we were able to avoid the morbidity associated with an open surgical resection. Though the recurrence rate may be increased, a recurrence likely will be amenable to another minimally invasive, endoscopic excision.
2. Nadas AS, Ellison RC. Cardiac tumors in infancy. Am J Cardiol. 1968;21(3):363-366.
4. Kapadia SB, Meis JM, Frisman DM, Ellis GL, Heffner DK, Hyams VJ. Adult rhabdomyoma of the head and neck: a clinicopathologic and immunophenotypic study. Hum Pathol. 1993;24(6): 608-617.
6. Liess BD, Zitsch RP III, Lane R, Bickel JT. Multifocal adult rhabdomyoma: a case report and literature review. Am J Otolaryngol. 2005;26(3): 214-217. 7. de Trey LA, Schmid S, Huber GF. Multifocal adult rhabdomyoma of the head and neck manifestation in 7 locations and review of the literature. Case Rep Otolaryngol. 2013;2013(1):758416. 8. Pai GK, Pai PK, Kamath SM. Adult rhabdomyoma of the esophagus. J Pediatr Surg. 1987;22(11):991-992. 9. Roberts F, Kirk AJ, More IA, Butler J, Reid RP. Oesophageal rhabdomyoma. J Clin Pathol. 2000;53 (7):554-557.
5. Koutsimpelas D, Weber A, Lippert BM, Mann WJ. Multifocal adult rhabdomyoma of the head and neck: a case report and literature review. Auris Nasus Larynx. 2008;35(2):313-317.
JAMA Otolaryngology–Head & Neck Surgery June 2015 Volume 141, Number 6 (Reprinted)
Copyright 2015 American Medical Association. All rights reserved.
Downloaded From: http://archotol.jamanetwork.com/ by a J H Quillen College User on 06/18/2015
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