# Nasal Chondromesenchymal Hamartoma: Rare Case Report in an Elderly Patient and Brief Review of Literature

Authors: Kanish Mirchia; Rana Naous
Journal: Case Reports in Pathology
 (2018)

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## Abstract

Hamartomas are considered a mixture of nonneoplastic tissue, which may be indigenous to a different location in the body. As such, they may be epithelial, mesenchymal, or mixed. In the sinonasal region, the following hamartomatous lesions are considered to lie on a spectrum and include respiratory epithelial adenomatoid hamartoma (REAH), chondro-osseous respiratory epithelial adenomatoid hamartoma (COREAH), and nasal chondromesenchymal hamartoma (NCMH). To our knowledge, less than 50 cases of sinonasal hamartomas have been reported in the English literature so far with NCMH being very rare and primarily a tumor in infancy, with only 2 cases reported in individuals older than 16 years of age. We report a highly unusual case of a NCMH in the right maxillary sinus of a 70-year-old female.


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## Body

## 1. Case Report

A 70-year-old female presented with a two-year history of slowly growing, nonpainful maxillary sinus mass. She has a history of chronic maxillary sinusitis corresponding to presentation of the mass, with the first episode reported in 2014. Computed tomography (CT) imaging revealed an erosive right maxillary sinus mass (2.5 x 2.1 cm) with bony destruction.Surgical excision of the right maxillary sinus mass revealed a fragmented, white, vaguely nodular, and whorled lesion. Histological examination revealed fragments of respiratory-type epithelium with focal cystic invagination and associated squamous metaplasia [Figure1]. The underlying stroma consisted of a variably cellular, benign spindle cell proliferation with an associated background of hyalinization [Figure 2], calcification and ossification [Figure 3], and focal chondroid change [Figure 4] in a vague lobule-like arrangement. Focal areas of aneurysmal and cystic changes [Figure 5] were seen which would provide an explanation for the clinically noted enlargement since hamartomas by definition would be expected to have a much lower rate of growth. The intrinsic slow-growing nature is also supported by the deficit of mitotic activity even in the highly cellular/spindled regions of the lesion (less than 1/10 hpf). Areas with haphazard arrangement of nerve bundles within the collagenous stroma [Figure 6] were also noted. Immunohistochemical stains were positive for SMA [Figures 7(a) and 7(b)] in the spindle cells and negative for CK AE1/AE3, EMA, CD34, Stat6, ERG/FLI-1, Mucin 4, S-100, Sox-10, and desmin [Figure 8]; ruling out perineurioma, solitary fibrous tumor, a vascular neoplasm, Evans tumor, a benign peripheral nerve sheath tumor, or a myogenic neoplasm. The overall findings were suggestive of a hamartomatous lesion, most likely a nasal chondromesenchymal hamartoma. The absence of submucosal glandular proliferation, myxoid stroma, or mucinous metaplasia in the lining epithelium lowers the likelihood of other neoplastic hamartomatous lesions such as COREAH.Figure 1
Area of respiratory lining epithelium with squamous metaplastic change (arrowheads).Figure 2
Focal areas of stroma displaying hyalinization (arrowheads).Figure 3
Focal areas displaying calcification and ossification surrounded by variably spindled stroma.Figure 4
Chondroid regions which support the hamartomatous nature of the lesion. Inset shows area at low-power with spatial relation of components, including surface ciliated epithelium (∗) and bone (within dashed lines).Figure 5
Variably dilated cystic regions within the lesion.Figure 6
Disorganized bundles of nervous tissue interspersed within collagenous stroma.Figure 7
Immunohistochemistry for smooth muscle actin (SMA) showing positive staining in the spindled lesional cells.
(a) (b)Figure 8
Lesional cells are negative for pan-cytokeratin (ae1/ae3), desmin, Sox-10, and S100. CD34 and ERG/FLI-1 highlight vascular endothelial cells.


## 2. Discussion

Nasal chondromesenchymal hamartomas are most commonly seen in the nasal cavity of children less than 3 months old, with less common involvement of the paranasal sinuses [2]. As per one review [1], mean age for NCMH was 9.6 years. Review of the English PubMed literature reveals 43 cases [Table 1] of NCMH previously published, with our case being the oldest patient reported, and presenting with a tumor in an unusual location.Table 1
Brief review of cases of nasal chondromesenchymal hamartomas reported in the English literature. Some cases also reported in older review articles [1].
Age Sex Follow-up(Asymptomatic) Site Pertinent Information Study Year 5 days M 2 years Nasal cavity - [2] McDermott 1998  12 days F < 16 months Nasal cavity Intracranial extension [2] McDermott 1998  14 days M - Nasal cavityEthmoid Sinus Intracranial extensionResidual tumor [2] McDermott 1998  2 months M 18 months Nasal cavity Intracranial extension [2] McDermott 1998  3 months F 2 years Nasal cavityEthmoid Sinus Intracranial extensionResidual tumor [2] McDermott 1998  3 months M 4 years Nasal cavity - [2] McDermott 1998  7 years M - Nasal cavity Sphenoid sinus PPB , multiple recurrences [2] McDermott 1998  4 months M 13 years Nasal cavity Intracranial extension [3] Kato 1999  0 days M 5 years Nasal cavitySphenoiod sinusEthmoid sinus Orbital compression [4] Hsueh 2001  9 months M 9 months Nasal cavity - [4] Hsueh 2001  16 years M 8 months Nasal cavity 3-month history [5] Alrawi M 2003  5 months M - Nasal cavity Orbital compression [6] Kim B 2004  11 years M - Nasal cavity Ethmoid sinus 8-month history [7] Norman ES 2004  1 year M - Nasal cavity Orbital extensionResidual tumor [8] Shet T 2004  11 years M - Nasal cavity Ethmoid sinus - [9] Ozolek JA 2005  17 years F - Nasal cavity - [9] Ozolek JA 2005  25 years M - Nasal cavity Maxillary sinus Bilateral NCMH  Intracranial aneurysms [9] Ozolek JA 2005  69 years F - Nasal cavity Ethmoid sinus - [9] Ozolek JA 2005  11 years M 2 months Nasal cavity - [10] Low SE 2006  15 years F 6 months Nasal cavity Bilateral NCMH  PPB [11] Johnson C 2007  7 months M 18 months Nasal cavity Orbital compression [12] Silkiss RZ 2007  12 months M - Nasal cavity Orbital compression [13] Finitsis S 2009  19 months M 10 months Nasal cavity Intracranial, orbital extension [14] Kim JE 2009  2 cases previously reported, both with PPB, multiple recurrences [15] Priest JR 2010  10 years F 21 months Nasal cavity Bilateral NCMH  PPB [15] Priest JR 2010  11 years M 4 months Nasal cavity PPB [15] Priest JR 2010  11 years M - - PPB [16] Behery RE 2012  8 years M 6 months Sphenoid sinus Ethmoid sinus 4-month history [17] Uzomefuna 2012  14 years M 4 years Nasal cavity Maxillary sinus - [18] Cho YC 2013  23 years M 3 months Nasal cavity Ethmoid Sinus Orbital extension [19] Li GY 2013  40 years F - Nasal cavity Ethmoid Sinus  Maxillary sinus Malignant transformation Recurrence [20] Li Y 2013  9 months F - Nasal cavityMaxillary sinus Orbital compression [21] Moon S 2014  14 years M - Nasal cavity Bilateral NCMH  PPB [22] Obidan AA 2014  6 weeks F 10 months Nasal cavity - [23] Wang T 2014  5 years M 3 years Nasal cavity  Ethmoid sinus 4-year history [23] Wang T 2014  10 months M 18 months Nasal cavity 6-month history [24] Lee CH 2015  49 years M 2 years  4 years (phone) Nasal cavity 5-year history [1] Mason AK 2015  Systematic review [1] Mason AK 2015  5 years M - Nasal cavity Previous rhabdomyosarcoma in remission [25] Avci H 2016  13 years F 12 months Nasal cavity 6-month history [26] Unal A 2016  3 years M 3 years Nasal cavity - [27] Nakaya M 2017 Index. Cases older than 1 year of age at presentation. Bilateral/cases associated with pleuropulmonary blastoma.Our case would lend support to extending the age range for NCMH and considering it in the differential diagnosis of all sinonasal region tumors, irrespective of age, and location in the head and neck region. Despite primarily being a benign lesion, these tumors can present with areas of necrosis and local destruction, including bony invasion. The tumors can be aggressive appearing on imaging, extending into bony structures, including the cranium and/or the orbital cavity, which should not lead away from the diagnosis of this benign lesion. Detailed CT or preferably MRI prior to surgical excision should be performed.NCMH has been associated with development of pleuropulmonary blastoma (PPB) during infancy. A recent [28] report highlighted the association of NCMH and PPB with DICER1 mutation and various associated entities such as lung cysts, cystic nephroma, renal sarcoma, Wilms tumor, thyroid hyperplasia, and CNS tumors. NCMH in isolation however is a benign lesion with follow-up in patients up to 16 years after excision, except for one reported case with malignant transformation in the literature [20]. Etiologically, it would make sense that cases in adults, such as ours, represent a tissue response to insult, such as chronic sinusitis rather than an inborn germline error (such as a DICER1 mutation).Whether the presentation of a NCMH at a later age predisposes to malignant transformation due to the long-standing nature of the lesion is up for debate. It could represent a somatic DICER1 mutation rather than a germline mutation, causing the hamartoma to form later in age. Longer follow-up results from the adult cases and routine genetic testing in all NCMH will help provide an answer to these questions.


## 3. Conclusion

We report an unusual case of NCMH eroding the right maxillary sinus of a 70-year-old female. Although, NCMH is a rare entity with predilection for pediatric age groups, it is important to consider NCMH in the differential diagnosis of nasal/sinonasal masses in adult patients in order to avoid diagnostic errors.



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