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Original Author(s): Daniyal Raja and Yusera El-Sockary
Last updated: March 31, 2020
Revisions: 8

Original Author(s): Daniyal Raja and Yusera El-Sockary
Last updated: March 31, 2020
Revisions: 8

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Neck lumps are a common presentation in the general population, presenting in both children and adults, and have a wide range of potential differential diagnoses.

In this article, we shall discuss the differentials, investigations, and management of a patient presenting with a neck lump.

Clinical Features

It is crucial to obtain a detailed history and complete a comprehensive examination of the neck (described here), oral cavity (described here), and ear (described here) in each patient presenting with a neck lump.

Ensure to clarify the duration of onset, any change in size (bigger, smaller, or unchanged), associated symptoms (especially red flags), and relevant past medical history (especially smoking status, alcohol intake, and known radiation exposure)

Figure 1 – Borders of the anterior triangle of the neck

Red Flags for a Neck Lump

The following features should raise your suspicion of head and neck malignancy, with regards to a neck lump:

  • Hard and fixed lump
  • Associated otalgia, dysphagia, stridor, or hoarse voice
  • Epistaxis or unilateral nasal congestion
  • Unexplained weight loss, night sweats, or fever or rigors
  • Cranial nerve palsies

In children, red flag symptoms also include the presence of a supraclavicular mass, lumps larger than 2cm, and a previous history of malignancy.

Differential Diagnoses

The differentials for a neck lump are wide and can be divided up based on a ‘surgical sieve’ model:

  • Infective – Reactive lymphadenopathy, atypical mycobacterium
  • Neoplastic – Lymphoma, head and neck cancer, metastatic disease
  • Vascular – Carotid body tumour, glomus jugulare
  • Inflammatory – Sarcoidosis
  • TraumaticHaematoma
  • Autoimmune – Thyroid disease (such as Graves’ disease, Hashimoto’s disease)
  • Congenital – Cystic hygroma, thyroglossal cyst, branchial cyst, dermoid cyst, teratoma

Cystic Hygroma

A cystic hygroma (also known as a cystic lymphangioma) is a benign fluid-filled sac caused by a malformation of the lymphatic system. They can be found anywhere on the body, but classically present in the axilla or posterior triangle of the neck (Fig. 2A).

Cystic hygromas are typically noticed and diagnosed before two years old*, presenting as soft painless fluctuant masses that transilluminate. They can be associated with congenital conditions (e.g. Turners syndrome) and can grow large enough to cause airway obstruction or dysphagia.

However, not all cystic hygromas require treatment, unless symptomatic. Treatment options include surgical excision (associated with low risk of recurrence) or lymphatic sclerotherapy (injection of sclerosing agents into the cyst).

*In some cases, a cystic hygroma is diagnosed antenatally and if it is likely to cause airway compromise at birth, an Ex Utero Intra-Partum Treatment (EXIT) procedure can be performed

Figure 2 – (A) A newborn with a cystic hygroma (B) Ultrasound imaging of a cystic hygroma

Carotid Body Tumours

Carotid body tumours (also known as a carotid paragangliomas) are benign neuroendocrine tumours that arise from the paraganglion cells of the carotid body. The carotid body is made up of a cluster of neuroendocrine cells, whereby sporadic (or hereditary) mutations lead to the formation of paragangliomas (Fig. 3).

A carotid body tumour will present as a pulsatile painless neck lump, often with a bruit present on auscultation*. Carotid paragangliomas are slow growing, but can become large enough to compress surrounding cranial nerves leading to palsies.

Carotid body tumours can be managed conservatively with active monitoring via serial imaging, or require surgical excision in a specialised unit with both ENT and vascular input. Radiotherapy may be an option for tumours that are unresectable, to limit tumour growth.

*Classically carotid body tumours can be moved from side to side but not up and down, due to their location in the carotid sheath

Figure 3 – High magnification of a carotid body tumour (paraganglioma) using H&E staining

Thyroglossal Cyst

A thyroglossal cyst is a congenital fluid filled sac, commonly presenting in younger patients (typically <20yrs) and have equal incidence between men and women.

Embryology of Thyroglossal Cysts

During embryonic development, the thyroid gland originates from the base of the tongue (foramen caecum), migrating down to its final position in the neck and connecting back to the tongue via the thyroglossal duct.

In normal development, this duct will obliterate, however thyroglossal cysts occur when portions of this duct remain patent, creating cavities that may fill with fluid and being prone to infection.

Thyroglossal cysts present as a palpable painless midline mass* (Fig. 4A) that move up with protrusion of the tongue. When infected, they can increase in size and become painful.

Standard treatment is surgical intervention, with the Sistrunk procedure being the most widely used. The central body of the hyoid bone is removed to allow complete removal of the entire thyroglossal tract. There is a high chance of recurrence if the medial portion of the hyoid bone is not removed.

*In rare cases (1%), patients may develop thyroglossal duct cyst carcinoma that often arises from ectopic thyroid tissue in the cyst (the most common histology is papillary carcinoma)

Figure 4 – (A) A simple thyroglossal cyst (B) Ultrasound findings of a thyroglossal cyst

Branchial Cyst

Figure 5 – A patient with large right branchial cyst, prior to excision

Branchial cysts are congenital masses which arise in the lateral aspect of the neck, typically anterior to the sternocleidomastoid (SCM).

During the fourth week of development, branchial clefts form ridges known as branchial arches, involved in the formation of a number of structures in the head and neck. Incomplete obliteration of these clefts will result in the formation of branchial cysts.

They present as palpable masses anterior to SCM, typically unilateral (Fig. 5). When infected, they can increase in size and become painful. Larger branchial cysts can result in dysphagia, dysphonia, and difficulty breathing.

Surgical excision is the definitive treatment. Sclerotherapy can be offered as an alternative to surgery in certain cases, involving injection of a sclerosing agent under ultrasound guidance.

Care needs to be taken when managing these patients as a common differential diagnosis is a cystic metastasis from a squamous cell carcinoma of the head and neck region. As such, an ultrasound-guided FNA is an important investigation prior to arranging for excision of the mass.

Investigation of a Neck Lump

Investigation of a neck lump, following history and examination, if suspicious will require an ultrasound +/- fine needle aspiration (FNA).

Ultrasound is the standard first-line investigation, providing good characterisation of lymph nodes, salivary glands, vascular structures, and thyroid nodules. Indeed, ultrasound findings alone can be sufficient to make a diagnosis of certain neck lumps.

Lumps with features of suspicion or uncertainty will then undergo an ultrasound-guided FNA (Fig. 6), unless if lymphoma is suspected, then a core biopsy or an open excision lymph node biopsy will be preferred.

Figure 6 – Illustration demonstrating the FNA procedure for suspicious neck lumps

If further imaging is needed to assess a neck lump, a CT or MRI scan may be carried out*. CT provides visualisation of bony anatomy, whilst MRI provides soft tissue detail and delineation of abnormalities in the oral cavity or oropharynx.

CT and MRI also aid in the management of head and neck cancer, including staging disease, detecting metastases, and radiotherapy planning

Key Points

  • Neck lumps are a common presentation in the general population and have a wide range of potential differential diagnoses
  • Investigation of a neck lump, following history and examination, if suspicious, will require ultrasound +/- fine needle aspiration
  • If lymphoma is suspected, a core biopsy or an open excision lymph node biopsy will be preferred over fine needle aspiration to obtain histological diagnosis
  • CT or MRI scanning may be carried out for further assessment once an initial diagnosis is made