Case Reports in Pathology
Volume 2018 (2018), Article ID 5971786, 7 pages
https://doi.org/10.1155/2018/5971786

Case Report

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

Kanish Mirchia and Rana Naous

Department of Pathology, SUNY Upstate Medical University, Syracuse, NY 13210, USA

Correspondence should be addressed to Kanish Mirchia; mirchiak@upstate.edu

Received 29 May 2018; Accepted 24 September 2018; Published 14 October 2018

Academic Editor: Stefan Pambuccian

Copyright © 2018 Kanish Mirchia and Rana Naous. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.

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 [Figure 1]. 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.

(a)

(b)

Figure 7: Immunohistochemistry for smooth muscle actin (SMA) showing positive staining in the spindled lesional cells.

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 cavity
Ethmoid Sinus
Intracranial extension
Residual tumor
[2] McDermott
1998

2 months
M
18 months
Nasal cavity
Intracranial extension
[2] McDermott
1998

3 months
F
2 years
Nasal cavity
Ethmoid Sinus
Intracranial extension
Residual 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 cavity
Sphenoiod sinus
Ethmoid 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 extension
Residual 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 cavity
Maxillary 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.

Conflicts of Interest

The authors declare that there are no conflicts of interest regarding the publication of this paper.

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