MEN2 syndrome: medullary thyroid cancer and pheochromocytoma

Case contributed by Dr Henry Knipe

Presentation

Hypertension. Elevated calcitonin.

Patient Data

Age: 35 years
Gender: Female

In the midpole the right thyroid lobe is an 11 mm ill-defined hypoechoic lesion with several punctate foci of microcalcification and internal vascularity. In the midpole of the left thyroid lobe is a similar lesion measuring 12 mm.

There are prominent lymph nodes in both sides of the neck, with a 9 mm level IV lymph node on the right which contains punctate foci of microcalcification.

Thyroid FNA

MICROSCOPIC DESCRIPTION: The smears are hypercellular and contain atypical epithelial cells presenting in sheets, and complex crowded tissue fragments. The cells show predominantly spindle-shape morphology with ovoid and elongated nuclei but others have a "plasmacytoid" appearance. The nuclei exhibit stippled chromatin pattern. Nucleoli are inconspicuous. Small globules of metachromatic material are present in the background.

DIAGNOSIS: FNA Thyroid - Left Lobe: Medullary carcinoma.

Large bilateral upper abdominal masses of heterogeneous density at the superior aspect of the kidneys. Normal adrenal glands are not seen. 

I-131 MIBG SPECT

Modality: Nuclear medicine

The scintigraphic findings are consistent with bilateral adrenal pheochromocytomas, with markedly increased tracer seen in both adrenal masses.

Patient proceeded to resection of bilateral adrenal masses. 

Histopathology:​

MACROSCOPIC DESCRIPTION:

1. "Left phaeochromocytoma": A 375g solid cystic nodule 90x90x75mm. The tumour has a smooth capsular surface with some attached fat 80x35x15mm. Flecks of orange strands of tissue are present at the edge of the nodule and may represent residual cortex. The tumour itself has a spongy brown cut surface with some cystic areas measuring up to 37mm in maximum dimension present.

2. "Right phaeochromocytoma": A 370g nodule 115x85x85mm. The nodule has a smooth capsular surface with some peritoneum covering it focally over a 60x40mm area. The tumour has a similar cut surface to specimen 1 with cystic spaces up to 25mm intermixed with more solid red tan spongy parenchyma. Flecks of orange tissue are present peripherally possibly consistent with residual cortex. Separate to the tumour is a nodule of fatty tissue measuring 15x15x10mm which is loosely attached to the capsule of the tumour.

MICROSCOPIC DESCRIPTION: 1&2: Sections of each of the two specimens show similar features of phaeochromocytoma. Tumour cells have pleomorphic round and oval vesicular nuclei and a large amount of granular basophilic cytoplasm and are arranged in diffuse sheets and lobules within an intensely vascular stroma. Scattered mitotic figures are identified (up to 3/20HPF). No necrosis is identified. Tumour appears to be partially delimited by a fibrous capsule in each specimen and is sharply demarcated from the small amount of normal adrenal cortex that is included in specimen 1. No normal adrenal cortex is seen in specimen 2. Extra-adrenal adipose tissue is unremarkable.

DIAGNOSIS: 1&2: "Left & Right phaeochromocytoma": Phaeochromocytoma x2.

Case Discussion

MEN2 consists of medullary thyroid cancer (always present) and phaeochromocytoma (commonly present). It can be further divided into MEN2a with the addition parathyroid hyperplasia and MEN2b with the presence of mucosal neuromas.

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Case Information

rID: 42984
Case created: 17th Feb 2016
Last edited: 20th May 2016
Inclusion in quiz mode: Included

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