A 40-YEAR FOLLOW-UP OF A PATIENT WITH MULTIPLE PARAGANGLIOMAS AND A SDHD MUTATION

Abstract

Context: Germline mutations in Succinate Dehydrogenase Complex Subunit D gene (SDHD) predispose to predominantly benign head and neck and/or thoracic-abdominal pelvic paragangliomas (PGLs).

Objective: We present the case of a patient carrying a germline SDHD mutation responsible for multiple PGLs, who was followed for 40 years. He was initially diagnosed with a left cervical PGL at the age of 23 years, treated by surgery. Then, he recurred and developed a multifocal disease. The second-line therapeutic option was a three-dimensional conformal radiotherapy performed in 2008. In 2013 the patient had clinical, hormonal, PET- and SPECT-CT data revealing a disease progression. The treatment with the long-acting somatostatin analogue Octreotide Lar was carried out till the patient's death caused by pulmonary embolism in December 2014.

Results: Complex treatment led to a long clinical and biochemical remission and control of tumor growth.

Conclusions: Despite their usually benign behavior, multicentric SDHD-related PGLs can require a multimodal approach involving surgery, radiotherapy and medical treatment for providing a long-term control of the disease and maintaining a good quality of life.

Keywords: multicentricity; paraganglioma; succinate dehydrogenase.

Figure 1.

CT scan of the neck (9-Nov-2005): two solid lesions in the vicinity of the carotid bifurcation on both sides of the neck are visualized with the following dimensions: left mass – 50x37 mm; right mass is almost round, d=43 mm. The carotid arteries are dilated and tortuous with some dislocation in the zone of bifurcation, partially surrounded by the tumors.

Figure 2.

CT examination of the neck (contrast enhanced; 12-Feb-2007): there are two symmetrical bilateral heterogeneous soft tissue masses in the paracarotid spaces. Parotid glands are dislocated without sign of direct invasion. There is no sign of bone destruction or periostal reaction. Internal, external and common carotid arteries could be followed with normal size and homogeneous enhancement. Sternocleidomastoid muscles are dislocated without sign of invasion.

Figure 3.

CT examination of the mediastinum (12-Feb-2007): a similar solid mass with heterogeneous structure is visualized which upper pole is on the level of the upper mediastinum; caudally the tumor follows the space between the left carotid and left subclavian arteries, lateral margin of the aortic arch and left pulmonary artery. The perivascular fat tissue is engaged without invasion of the vessels. There are no nodules or infiltrates in both lungs. Normal chest wall structures.

Figure 4.

CT of the abdomen (12-Feb-2007): Fourth tumor with similar characteristics is found in the left retroperitoneal space on the level of renal vessels without any signs of invasion.

Figure 5.

99mTc Tektrotyd-SPECT-CT-Somatostatin receptor scintigraphy (NOV-2013).

Figure 6.

The main clinical features, diagnostic and therapeutic procedures presented as a timeline flowchart.