
==== Front
J Family Med Prim Care
J Family Med Prim Care
JFMPC
J Family Med Prim Care
Journal of Family Medicine and Primary Care
2249-4863
2278-7135
Wolters Kluwer - Medknow India

JFMPC-13-3355
10.4103/jfmpc.jfmpc_74_24
Original Article
Distribution of non-thyroid neck swellings and their clinicopathological correlation
Chaturvedi Himani Tiwari 1
Patel Bhupesh 1
Chaturvedi Chandrashekher 2
Damor Paresh Kumar 2
Patel Varsha 3
Vasava Rahul 4
1 Department of Oral Pathology, Faculty of Dental Sciences, Dharmsinh Desai University, Nadiad, Gujarat, India
2 Department of Surgery, Care Multispecialty Hospital, Vadodara, Gujarat, India
3 Department of Medicine, SSG Medical College, Vadodara, Gujarat, India
4 Department of Medicine, Care Multispecialty Hospital, Vadodara, Gujarat, India
Address for correspondence: Dr. Himani Tiwari Chaturvedi, A1/57, Darshanam Greens, BH Baroda Public School 2, Near Nathdwara Residency, Dabhoi Waghodia Ring Road, Vadodara - 390 019, Gujarat, India. E-mail: himanicsc@gmail.com
8 2024
26 7 2024
13 8 33553361
14 1 2024
16 4 2024
19 4 2024
Copyright: © 2024 Journal of Family Medicine and Primary Care
2024
https://creativecommons.org/licenses/by-nc-sa/4.0/ This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
ABSTRACT

Background:

Neck swellings are frequently found and can present the vast pathological spectrum from simple benign to highly malignant, which sometimes can pose a diagnostic dilemma. They are broadly classified as developmental, inflammatory, and neoplastic on the basis of etiology. The aim of the study is to assess the distribution of neck swelling according to etiology and its relation to age groups, as well as to assess their clinicopathological correlation as benign and malignant.

Materials and Methods:

The study was conducted from January 2020 to February 2023 on the basis of retrospective and prospective sampling. All the patients with neck swellings, except thyroid, who had undergone an excisional or incisional biopsy, were included in this study. Data was collected from in-patient records for retrospective sampling, and fine-needle aspiration cytology (FNAC), radiological investigation, and excisional or incisional biopsy were performed for prospective sampling after proper history and examination. Cytological and pathological correlation was analyzed as benign and malignant. Sensitivity and specificity were calculated. (P value <0.001 considered significant)

Results:

Out of the 74 patients, 16% were categorized as developmental, 31% as inflammatory, and 53% as neoplastic (benign 64%, malignant 36%). The most common cause was an epidermoid cyst (50%) among developmental swellings, reactive lymphadenitis (48%), and tuberculosis (35%) among inflammatory, pleomorphic adenoma among benign neoplasm and metastasis to lymph node among malignant swelling. Malignant lesions mainly occur in the older age group, more than 40 years of age. The overall sensitivity, specificity, and accuracy of FNAC, to differentiate from benign to malignant, is very similar to histopathological examination.

Conclusion:

Different age groups breed different etiology, so age needs to be the prime demographic factor to be established. Pediatric and younger generations of neck swelling are usually inflammatory and developmental, in contrast to the older category, in which malignancy is far more prevalent, hence demanding more caution in evaluation. FNAC is a diagnostic tool that has become highly sensitive for malignant lesions; though in no sense can it replace histopathology, it can still be valuable in diagnostic and screening dilemmas of neck swelling.

Benign
FNAC
malignant
lymph node
neck swellings
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pmcIntroduction

Neck swellings constitute the varied spectrum of presentation of numerous disease forms and are aptly defined as any abnormal growth or development from the skull base to the level of the clavicula. They are classified as developmental, inflammatory, and neoplastic on the basis of a multitude of etiological factors. The neck region is a very complex area in the human body due to the presence of significant underlying structures with wide anatomic variations, which lead to a high frequency of pathologies. Hence, diagnosis in this region varies according to age, sex, location, duration of symptoms, shape, and size of swelling and sometimes poses a diagnostic dilemma.[1234] Congenital and inflammatory neck swellings have been reported mostly in the younger age groups, while malignant neck masses far exceed in the adult and older age groups. Metastatic nodes are common malignant neck masses, and it is important to rule out this when an adult presents a neck swelling. Clinical diagnosis is made by age, signs, symptoms, location, and clinical examination, which is further evaluated by cytology like FNAC and imaging techniques (ultrasound, CT scan, MRI). FNAC being the safest, minimally invasive, cost-effective, and fastest diagnostic tool, though in no manner replace histopathology, merits first preference by the clinicians in the differentiation of neck swelling from benign to malignant.[5678] Many studies showed that the diagnostic accuracy of FNAC in differentiating benign and malignant lesions, considering histopathology as the gold standard, is high (>92%), which may help in initial treatment planning.[91011] Accordingly, this study contemplates the distribution of neck swelling related to age and pathology and assesses their clinicopathological correlation as benign and malignant.

Materials and Methods

Study setting and duration

The study was conducted during the period of January 2020 to February 2023, including all the patients with swelling in the neck region except thyroid and parathyroid swellings.

Inclusion criteria: Patients with all age groups (male or female) with neck swellings to the surgical department and who had undergone excisional or incisional biopsy.

Exclusion criteria: Thyroid, parathyroid swelling, and those patients not willing to participate in the study.

Study design

In this study, both retrospective and prospective sampling was performed. The retrospective sample included neck swelling patients who presented during the period between January 2020 and January 2022 (2 years) and who underwent incisional or excisional biopsy.

Sample size and sampling

A total of 74 patients were included in this study; FNAC was performed in 48 patients, out of which 5 had insufficient smears. The final diagnosis was achieved by histopathology. Immunohistochemistry was performed wherever required. FNAC was performed under aseptic conditions by a 21–23-gauge needle attached to 10 ml disposable syringe, and smear was prepared, fixed, and stained by hematoxylin and eosin stain. Radiological (USG) investigation was performed. Further radiological investigations such as CT and MRI were performed wherever required. Excisional and incisional biopsy specimens were fixed in 10% formalin, routinely processed in automatic tissue processor, and prepared paraffin block. Each block was cut into 3- to 4-micron thick sections, and then the slides were stained using hematoxylin and eosin stain.

Data collection

Data for retrospective samples were collected from the inpatient records of the patients and tabulated. In prospective samples from February 2022 to February 2023 (1 year), all patients clinically diagnosed as neck swelling, who were ready for incisional or excisional biopsy, were enrolled in the study.

Data analysis

Data were analyzed using SPSS version 20, and sensitivity, specificity, positive predictive value, and negative predictive value were calculated

Ethical issues

The approval for this cross-sectional study was obtained from the Institutional Ethical Committee and informed consent was taken from all cases.

Guidelines for reporting

FNAC diagnosis was performed as benign and malignant, and the diagnostic efficacy of FNAC in neck swellings was evaluated as sensitivity, specificity, positive predictive value, negative predictive value, and accuracy by comparing cytological diagnoses with gold standard histopathological diagnoses.

The swellings were classified as

Developmental/congenital

Inflammatory/infectious/reactive

Neoplastic

Divided into3 age groups:

<20 years old

20-40 young adults

>40 older adults

Results

A total of 74 cases were included, and of these, 48 were male and 26 were female, with mean age of 36 ± 18.74 years. Lesions were categorized as developmental (n = 12, 16.21%), inflammatory (n = 23, 31.08%), and neoplastic (n = 39, 52.70%) [Table 1, Graph 1].

Table 1 Distribution of neck swellings as developmental, inflammatory, and neoplastic origin

Distribution of neck swellings as developmental. Inflammatory and neoplastic	
	
Swellings according to histopathologic diagnosis	Numbers (%)	
Developmental	12 (16.21%)	
 Epidermoid cyst	6	
 Dermoid cyst	3	
 Branchial cyst	2	
 Hemangioma	1	
Inflammatory	23 (31.08%)	
 Reactive lymphadenitis	11	
 Tuberculosis	8	
 Sialadenitis	3	
 Fungal infection	1	
Neoplastic	39 (52.70%)	
(A) Benign Neoplastic	25 (64%)	
 Salivary gland tumor (Pleomorphic Adenoma 8, Warthin tumor 2)	10	
 Lipoma	7	
 Nerve sheath tumor	6	
 Pilomatrixoma	2	
(B) Malignant Neoplastic	14 (36%)	
 Metastatic Lymph node	10	
 Lymphoma	3	
 Salivary duct carcinoma	1	
 Total	74 (100%)	

Graph 1 Distribution of neck masses

Among developmental epidermoid cysts (n = 6,50%) were the most common one, followed by dermoid cyst (n = 3, 25%), branchial cyst (n = 2,16.7%), and hemangioma (n = 1, 8.3%). Numerous anucleated squamous cells were present in FNAC of epidermoid cyst, which on histopathology showed stratified squamous epithelial lining filled with keratin [Figure 1a and b]. Multiple anucleated squamous cells along with degenerated squamous cells and few inflammatory cells were found on FNAC of branchial cleft cyst, which on histopathology showed squamous epithelium along with lymphoid germinal center [Figure 1c and d].

Figure 1 Developmental swellings: (a and b) Cytological and histopathological image of epidermoid cyst. (c and d) Cytological and histopathological image of Branchial cyst

Among inflammatory swellings, reactive lymphadenitis was most common, comprising 47.8% (n = 11) [Figure 2], followed by tuberculosis 34.8% (11), sialadenitis (13%, n = 3), and one case of mucormycosis (4.3%, n = 1).

Figure 2 Inflammatory swelling: (a and b) Cytological and histopathological image of reactive lymphadenopathy

Neoplastic swellings are further divided into benign (n = 25, 64%) and malignant tumors (n = 14, 36%). Out of benign neoplastic swelling, salivary gland tumors were most common (n = 10); among those, 8 (20.5%) were pleomorphic adenomas and 2 (5,1%) were Warthin’s tumors, followed by lipoma (n = 7, 17.9%), nerve sheath tumor (n = 6, 15.4%), and pilomatrixoma (n = 2, 5.1%). Epithelial and myoepithelial-like cells along with fibro myxoid stroma are visible on FNAC and biphasic mixture of epithelium (glandular) and chondromyxoid stroma on biopsy of pleomorphic adenoma [Figure 3a and b]. Among six nerve sheath tumors, three were neurofibroma, two were schwannoma [Figure 3c and d], and one case was hybrid peripheral nerve sheath tumor (neurofibroma and schwannoma).

Figure 3 Benign neoplastic swelling: (a and b) Cytological and histopathological image of pleomorphic adenoma. (c and d) Cytological and histopathological image of nerve sheath tumor (Schwannoma)

In the category of malignant neoplastic swellings, the metastatic lymph node was the most common, having (25.64%, n = 10) [Figure 4], followed by lymphoma (n = 3, 7.7%) and salivary duct carcinoma (n = 1, 2.6%).

Figure 4 Malignant neoplastic swelling: (a and b) Cytological and histopathological image of metastatic lymph node

Distribution of neck swelling among three age groups showed that there were 27% cases in <20 age group, 42% in the 20-40 age group, and 31% cases belonging to >40 age group [Table 2]. Benign neoplastic swellings were mostly found in the 20-40 age group as compared to <20 and >40-year age group, and malignant swellings were more common in >40-year age group as compared to <20 and 20-40-year-old age group [Graph 2]. Developmental and inflammatory lesions were mostly in the <20 and 20-40-year age group.

Table 2 Distribution of neck swellings according to age groups

Neck swellings	Age groups (years)	<20	20-40	>40	Total	
Congenital	7	5	0	12	
Inflammatory	8	11	4	23	
Neoplastic BENIGN	5	14	6	25	
Neoplastic MALIGNANT	0	1	13	14	
Total	20 (27%)	31 (42%)	23 (31%)	74 (100%)	

Graph 2 Distribution of neck swellings among three age groups

FNAC was diagnostic in 43 swellings: 29 benign and 14 malignant cases. When cytological diagnosis was compared with the gold standard of histopathological final diagnosis, 13 and 29 cases were diagnosed as true positive and true negative, respectively, and 1 case as false positive, which were diagnosed malignant by FNAC and benign by histopathology. False positive case was metastatic carcinoma on FNAC, which was confirmed as reactive lymphadenopathy on biopsy. False negative cases were not present in our study. The sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of the present study are 100%, 96.7%, 92.9%, 100%, and 97.67%, respectively [Table 3, Graph 3].

Table 3 Cytological and histopathological correlation

Cytology diagnosis	Histopathology diagnosis	Total	
	
Malignant	Benign	
Malignant	13	1	14	
Benign	0	29	29	
Total	13	30	43	

Graph 3 Cytological and histopathological correlation

Discussion

Patient’s age, location of neck swelling, good history, and physical examination are essential for making a differential diagnosis because each age group showed frequency for certain diseases, which can guide to reaching the final correct diagnosis; however, the biopsy is required for a definitive diagnosis.[231213]

Distribution of neck swellings

Studies showed that neoplastic masses are common in older adults. A study on 1,208 neck masses (617 male and 591 female), with mean age of 42.1 years showed that inflammatory (129) and neoplastic lesions (433) were more common in the older adult group.[3] 80% of non-thyroid adult neck masses are mostly considered neoplastic and out of these, 80% are malignant so careful assessment of neck swelling is required in older age group.[12] Study by H. H. Balikci et al.[2] studied 630 cases of neck masses and categorized them as inflammatory (33.49%), congenital (18.9%), or neoplastic (47.6%). Among neoplastic masses, benign and malignant tumors were 51% and 49%, respectively. Similar to the above-mentioned studies, our study also showed neoplastic (n = 39, 52.70%) swelling in maximum number followed by inflammatory (n = 23, 31.08%) and developmental (n = 12, 16.21%). The incidence of benign and malignant neck masses was higher in the 21–40-year age group and >41-year-old group, respectively, which was the same as our study.

Developmental/congenital neck swellings

Branchial cyst (n = 26, 21.85%) was the most common, followed by epidermoid cyst (n = 18, 11.76%), dermoid cyst (n = 14, 11.76%), hemangioma (n = 11, 9.24%) among non-thyroid developmental masses Which was higher in 0-20 age group.[2] The most common congenital neck swelling found in children after thyroglossal duct cysts are branchial cleft anomalies and/or epidermoid cysts.[36] In our study, developmental swelling was present in both <20 and 20-40 age groups, and epidermoid and dermoid cysts were common pathologies. Head and neck regions contain 7% of total cases of epidermoid and dermoid cysts.[14] In the present study, lesions in children were benign, which is similar to other studies where most of the pediatric group lesions belonged to benign pathology[123] and the mean age for congenital swelling was 11.4 ± 4.6.[6] There is a 90% chance of being a benign lesion in pediatric neck swellings, out of which 55% are developmental.[12] A Study on Iranian children concluded that inflammatory lesions were highest among the head and neck swelling in children.[4] In our study, both developmental and inflammatory swelling are higher compared to neoplastic in the <20 age group.

Congenital and neoplastic neck swellings are quite frequent in developed countries; however, inflammatory swellings are more common in developing countries.[26] In our study, we observed that neoplastic swellings were most common, followed by inflammatory and developmental.

Inflammatory/reactive/infectious neck swellings

Reactive lymphadenopathy and tuberculosis are the most common neck swellings of inflammatory origin.[261213] Lymphadenitis in pediatric and young population may be of bacterial, viral, fungal, parasitic, or non-infectious etiology. The most common cause of cervical lymphadenitis in children is bacterial caused by staphylococcus aureus and Group A streptococci. In our study, the most common inflammatory neck swelling was reactive lymphadenopathy (47.8%), followed by tuberculosis (34.8%). Ozkiriş M et al.[6] (47.95%), (28.57%) and Akhavan-Moghadam J et al.[9] (37.4%) also reported inflammatory neck swellings to be mostly due to reactive lymphadenitis and tuberculosis. In our study also, reactive lymphadenitis is mostly present in <20-year age group. Tuberculosis was 34.8% in our study and continued to be endemic in many parts of India, so meticulous surveillance is required along with confirmation of diagnosis for treatment regimens. It should always be used to diagnose neck swelling differentially, especially in developing countries, due to a long-term inflammatory process.[14]

Neoplastic neck swellings

Pleomorphic adenoma and lipoma are the most common neck swellings.[2356] In our study, salivary gland tumors were the most common benign neoplastic swelling, followed by lipoma. Metastatic Squamous cell carcinoma and lymphoma are the most common malignant neoplastic.[26] Metastatic lymph nodes may develop from head and neck primaries or Primary of Unknown Origin (occult primary). Seventy-four percent of metastatic cervical lymph nodes have developed from head and neck primaries, and the rest, 11%, are from primary sites outside this region.[12] in our study, the most common malignant swelling was metastatic lymphadenopathy; out of 14 malignant lesion 13 (92.85%) were in >40 age group, which was consistent with many studies.[236]

FNAC in neck swellings

FNAC is a widely accepted preoperative investigation that is safe, cost-effective, fast, and well-tolerated by patients with neck swellings. Diagnosis can be benign and malignant and guide surgeons to opt for an appropriate surgical treatment.[10151617] It has high levels of reported diagnostic accuracy, sensitivity, and specificity in the assessment of the salivary glands [16171819] and neck nodes.[1017]

FNACs were conducted on 1262 cases of neck swellings; among those, lymph node lesions were the most common, which was the same as in our study. Head and neck swelling had sensitivity, specificity, positive predictive value, and negative predictive value (NPV) of FNAC as 92%, 94.9%, 93.1%, and 94%, respectively. Lymph nodes provided 98.2% sensitivity, and salivary glands and lymph nodes provided 100% specificity.[11]

Sixty-five cases of head and neck swellings were assessed with both biopsy and FNAC and were categorized as malignant neoplasm 25 (40.8%), benign neoplasm 16 (19.4%), and non-neoplastic lesions 24 (39.8%). They reported 38 true positive, 22 true negative, 3 false positive, and 2 false negative diagnoses, leading to sensitivity, specificity, positive negative predictive values, and diagnostic accuracy as 95%, 85%, 92.68%, 91.66%, and 92.3%, respectively.[9] In our study, among 43 cases, 13 true positive, 29 true negative, 1 false positive, and 0 false negative diagnoses, which leads to sensitivity, specificity, positive and negative predictive values, and diagnostic accuracy as 100%, 96.7%, 92.9%, 100%, and 97.67% respectively which in line with Sejwal P et al.[10] Table 4 shows a comparison of various studies.[9101120212223] In our study, one false positive case was detected as metastatic carcinoma in FNAC, and reactive lymphadenitis was turned out in the biopsy. Diagnosis by FNAC may be difficult in some cases, mainly lymphomas and metastasis, so it may be used as the initial evaluation tool, which should be followed by histopathology and immunohistochemistry for confirmatory diagnosis.[10] Immunohistochemistry was performed in six cases of our study, which include three cases of lymphoma, two cases of nerve sheath tumor, and one case of metastatic lymphadenopathy.

Table 4 Study of FNAC by various authors and their statistical parameters

Various studies	Sensitivity	Specificity	Positive PV	NPV	
Present study 2024	100.00%	96.70%	92.90%	100.00%	
Shah Y et al. 2023[21]	71.4%	98.9%	83.3%	97.8%	
Goswami et al. 2019[22]	100%	100%	100%	100%	
Rammeh S et al. 2019 [11]	92%	94.9%	93.1%	94%	
Athavale V 2019[23]	81%	100%	100%	95.6%	
Sejwal P 2018[10]	100.00%	91.67%	92%	100.00%	
Akhavan-Moghadam J et al. 2013[9]	95%	85%	92.68%	91.66%	
Addams-Williams et al. 2009[20]	92%	90%	92%	90%	

The overall non-diagnostic rates for FNAC were 52 and 50 percent in the neck node group and salivary gland group, respectively. Firm protocol should be developed, and a multidisciplinary team (MDT) approach is required to minimize the non-diagnostic rate of FNAC, like ultrasound-guided (US-guided) FNAC and trained technicians.[17] However, the sensitivity and specificity of the non-US guided and US-guided FNAC results were similar and found to be highly sensitive for the diagnosis of malignant swellings but less accurate for benign masses; so, awareness of the diagnostic pitfalls is essential for safe practice.[20]

The limitation of our study is the small sample size; larger samples could yield better findings.

Conclusion

In clinical evaluation, age should be the first criterion for neck swellings, as older patients are far more likely to experience malignancy, which obviously demands far more caution on the part of clinicians and pathologists. FNAC is a simple and easy diagnostic tool with good sensitivity, specificity, and accuracy to diagnose benign and malignant lesions. However, typing of the lesions with FNAC may be difficult in certain cases, especially lymph node lesions; therefore, it may be used as the initial investigation tool, which should be followed by histopathology and immunohistochemistry for confirmation.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.
==== Refs
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