Pediatr Radiol (2007) 37:101–104 DOI 10.1007/s00247-006-0352-6
CASE REPORT
Nasal chondromesenchymal hamartoma: radiographic and histopathologic analysis of a rare pediatric tumor Craig Johnson & Usha Nagaraj & Jorge Esguerra & Daniel Wasdahl & Douglas Wurzbach
Received: 21 July 2006 / Revised: 5 October 2006 / Accepted: 9 October 2006 / Published online: 8 November 2006 # Springer-Verlag 2006
Abstract Nasal chondromesenchymal hamartoma (NCMH) is an extremely rare benign pediatric tumor that was described in 1998. Only 19 cases are reported in the literature. We present a 15-year-old girl with nasal obstruction and recurrent sinusitis. Her medical history was significant for a rare ovarian tumor and pleuropulmonary blastoma. CT demonstrated a partially calcified soft-tissue mass obstructing the nasal cavity. The patient underwent endoscopic surgical excision. Histologic and immunohistochemical analyses of the tumor were consistent with NCMH. The imaging characteristics of the tumor are reviewed. NCMH may be part of a syndrome associated with other pediatric neoplastic and dysplastic disease. Keywords Nasal chondromesenchymal hamartoma . CT . Pediatric nasal tumor . Hamartoma
Introduction Nasal chondromesenchymal hamartomas (NCMH) are extremely rare tumors. They usually present as polypoid lesions shortly after birth. McDermott et al. [1] suggested the name “nasal chondromesenchymal hamartoma” in 1998 as a distinct pathologic entity; it has since been named as such. No evidence of malignant degeneration has been found. The tumor contains a mixture of mesenchymal elements. Although the histologic and pathologic characteristics have been well described, the CT characteristics have not been, with this being the first reported case in the radiology literature. This report received a waiver from the hospital IRB committee.
Case report
C. Johnson (*) : J. Esguerra : D. Wurzbach Department of Diagnostic Radiology, Northeastern Ohio Universities College of Medicine, Canton Affiliated Hospitals, 2600 Sixth Street S.W., Canton, OH 44710, USA e-mail:
[email protected] U. Nagaraj Northeastern Ohio Universities College of Medicine, Rootstown, OH, USA D. Wasdahl Department of Pathology, Northeastern Ohio Universities College of Medicine, Canton Affiliated Hospitals, Canton, OH, USA
A 15-year-old girl presented with chronic sinusitis and nasal obstruction. Her history was significant for congenital phthisis bulbi, a testosterone-secreting left ovarian stromal tumor, and pleuropulmonary blastoma (PPB). On physical examination, the nasal passages were obstructed with polypoid masses. Treatment with steroids, antibiotics, and allergy desensitization injections had been attempted unsuccessfully. A non-contrast CT scan (Fig. 1) demonstrated an obstructing mass within the nasal cavity extending into the nasopharynx. The imaging characteristics of the soft-tissue mass raised suspicion for malignancy, and the patient underwent endoscopic resection of the tumor without further imaging. The tumor was grossly pink-tan with areas of cartilage and bone noted. Histology demonstrated polypoid respiratory mucosa with lobulated cartilage and no evidence of malignancy (Figs. 2 and 3).
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Fig. 1 CT images. Axial (a), coronal (b), and sagittal (c, d) plane non-contrast images in both soft-tissue and bone windows and levels demonstrate a large soft-tissue density mass occupying the nasal cavity with extension into and occlusion of the nasopharynx. There is extensive bony remodeling and erosion of the inferior and middle turbinates along with multiple foci of calcification seen within the mass
Immunohistochemical staining revealed positive reactivity to smooth muscle actin (SMA), S100, and vimentin, consistent with NCMH. The patient had an uneventful postoperative course, and a follow-up CT scan at 6 months revealed no evidence of residual or recurrent disease.
Fig. 2 Low-power photomicrograph demonstrates the components of the tumor with osseous (black arrow), cartilaginous (arrowhead), myxoid (open arrow), and vascular (curved arrow) components (H&E, ×40)
Discussion NCMH is an extremely rare benign pediatric neoplasm with only 12 cases reported in the literature since it was first described by McDermott et al. in 1998 [1]. NCMH has also been called “chondroid hamartoma,” “mesenchymoma,” “nasal hamartoma,” and other names in the literature [1–3]. Though the vast majority of patients are in the first year of life, the disease has been reported in adolescents and even adults, with the oldest presenting patient being 69 years old [4]. The exact etiology of NCMH is unknown. It was originally thought to be developmental or congenital. However, now that there are documented cases in adults with an asymptomatic childhood, this seems unlikely. It is more likely that the tumor is caused by an underlying genetic predisposition in combination with the proper stimulation [4]. This stimulation could be environmental or possibly hormonal in nature. Even though the majority of patients with NCMH are infants and young children, five patients have been between the ages of 11 and 17 years, a second period of life characterized by increased hormonal levels. The patient’s history of both a testosterone-secreting Leydig cell tumor and PPB is very unusual. McDermott et al. [1] described a similar case of NCMH in a patient with a
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Fig. 3 High-power photomicrographs demonstrate an osseous component of the tumor (black arrow) adjacent to cartilage and ectatic vascular channels (open arrow), which are embedded within a fibrous stroma (a). Lobules of cartilage (black arrows) are seen within a spindle cell stroma (b) with adjacent cystic spaces lined by respiratory mucosa (open arrow) (H&E, ×100)
history of PPB. Priest et al. [5] reported that PPB appeared to herald a constitutional and heritable predisposition to dysplastic or neoplastic disease in approximately 25% of patients. Associated conditions noted include PPB, medulloblastoma, malignant germ cell tumor, and thyroid neoplasia, among others. They suggested that all patients with PPB and their families be investigated carefully. NCMH may be an additional neoplasia involved in this syndrome and may be the earliest presenting neoplasia, commonly present in the neonatal period. NCMH typically presents as an intranasal mass in the first few months of life. The presentation and symptoms depend on the size and location of the tumor as well as involvement of surrounding structures. Physical examination is often sufficient for initial diagnosis with the presence of an intranasal mass on routine ENT examination. Orbital involvement of the tumor can result in proptosis, enophthalmos, or impairment of eye movement [3]. Intracranial
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extension of the tumor can result in neurologic manifestations such as hydrocephalus and oculomotor disturbances. Other symptoms associated with NCMH include respiratory and feeding difficulties, rhinorrhea, epistaxis, ptosis, visual disturbances, and otitis media [1, 3]. Preoperative CT findings in 15 patients are displayed in Fig. 4. Of the 8 patients who demonstrated orbital findings, 6 (75%) were positive for tumor involvement. Of the 15 patients, 11 (73%) demonstrated paranasal sinus involvement, 10 (67%) demonstrated bony remodeling, thinning, or erosion, and 8 (53%) demonstrated intracranial extension through the cribriform plate. Of 14 patients, 7 (50%) revealed internal calcifications, and 6 (40%) revealed cystic components. Of the 3 patients with post-contrast findings, 2 (67%) demonstrated enhancement. The use of MRI in diagnosing and studying NCMH has been limited to only a few patients with limited descriptions that support the above CT observations. MRI, however, is the preferred imaging tool for the investigation of suspected sinonasal masses. Grossly, NCMH is described as variable in texture from soft to firm with a pink-tan color [1]. Microscopically, NCMH is characterized by irregular islands of mature and immature hyaline cartilage with occasional binucleated chondrocytes. The islands of cartilage are well demarcated from the surrounding stromal tissues, which have a myxoid background. Spindle cells with occasional mitotic figures are seen [1]. No atypical mitotic figures or malignant characteristics have been seen. Almost all NCMH demonstrate immunohistochemical positivity to SMA, S100, and vimentin. Chondrocytes and myoepithelial cells, as well as neural crest cells, adipocytes, and macrophages, stain positive with S100. Mesenchymal cells with myofibroblastic differentiation stain positive with SMA. Vimentin is a general stain for mesenchymal elements. Typically, NCMH stains are negative for cytokeratin, epithelial membrane antigen, and desmin.
Fig. 4 CT imaging characteristics of NCMH in reported patients [1– 4, 6–8]
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Hamartomas, and therefore NCMH, are considered benign entities [6]. Even though they are benign, their radiographic appearance can raise suspicion for malignancy due to the locally expansive and destructive-appearing nature of the tumor. The differential diagnosis for a sinonasal mass in the pediatric patient is broad with all entities being rare. Benign pediatric tumors with imaging features that can mimic NCMH include nasal glioma, inverted papilloma, giant cell reparative granuloma, ossifying fibroma, chondro-osseous respiratory adenomatoid hamartoma (COREAH), and aneurysmal bone cyst. Malignant pediatric tumors that can mimic NCMH include rhabdomyosarcoma, esthesioneuroblastoma, and chondrosarcoma, with the latter two usually seen only in the adolescent age group. It is essential that the correct diagnosis is made so that potentially harmful therapies can be avoided [3]. If NCMH is limited to the nasal cavity, it is often amenable to endoscopic surgery [6]. However, the infiltrative nature of the tumor can make it difficult to obtain clean margins. There is usually no role for adjuvant therapy if there is complete surgical resection. Shet et al. [7] and Kato et al. [8] have reported that NCMH responds to radiation therapy and combination chemotherapy, which may be helpful when complete tumor excision is not possible. Recurrence of NCMH has been documented in patients in whom the tumor had not been completely resected [1]. Thus, complete surgical excision is the treatment of choice and is curative. Due to the invasive nature of the tumor into adjacent structures, a multidisciplinary approach to the tumor involving neurosurgery, ophthalmology and otorhinolaryngology would likely achieve the best chance at surgical cure. There have been no reported cases of malignant transformation in NCMH.
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Nasal chondromesenchymal hamartoma is an extremely rare but important pediatric tumor to consider in the differential of a pediatric nasal cavity lesion. Awareness of the imaging characteristics will lead to appropriate close inspection of commonly involved surrounding structures. CT is helpful in both tumor characterization and description of the anatomic extent of invasion. Further genetic testing and close follow-up will be needed as more cases are documented to further evaluate its association with a pediatric neoplastic syndrome.
References 1. McDermott MB, Ponder TB, Dehner LP, et al (1998) Nasal chondromesenchymal hamartoma: an upper respiratory tract analogue of the chest wall mesenchymal hamartoma. Am J Surg Pathol 22:425–433 2. Kim B, Park S, Min HS, et al (2004) Nasal chondromesenchymal hamartoma of infancy clinically mimicking meningoencephalocele. Pediatr Neurosurg 40:136–140 3. Hsueh C, Hsueh S, Gonzalez-Crussi F, et al (2001) Nasal chondromesenchymal hamartoma in children: report of 2 cases with review of the literature. Arch Pathol Lab Med 125:400–403 4. Ozolek JA, Carrau R, Barnes EL, et al (2005) Nasal chondromesenchymal hamartoma in older children and adults. Arch Pathol Lab Med 129:1444–1450 5. Priest JR, Watterson J, Strong L, et al (1996) Pleuropulmonary blastoma: a marker for familial disease. J Pediatr 128:220–224 6. Norman ES, Berhman S, Trupiano JK, et al (2004) Nasal chondromesenchymal hamartoma: report of a case and review of the literature. Pediatr Dev Pathol 7:517–520 7. Shet T, Borges A, Nair C, et al (2004) Two unusual lesions in the nasal cavity of infants: a nasal chondromesenchymal hamartoma and an aneurismal bone cyst like lesion: more closely related than we think? Int J Pediatr Otorhinolaryngol 68:359–364 8. Kato K, Ijiri R, Tanaka Y, et al (1999) Nasal chondromesenchymal hamartoma of infancy: the first Japanese case report. Pathol Int 49:731–736
