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J Thorac Cardiovasc Surg 2007;134:799-801
© 2007 The American Association for Thoracic Surgery

Brief Communication

Primary intrapulmonary thymoma associated with congenital hyperhomocysteinemia

^a Department of Thoracic Surgery, Hôtel-Dieu University Hospital, Paris, France
^b Department of Thoracic Surgery, Hospital of Troyes, Troyes, France
^c Department of Pathology, Hospital of Troyes, Troyes, France.

Received for publication February 24, 2007; accepted for publication March 29, 2007.

^_* Address for reprints: Alessandro Stefani, MD, Department of Thoracic Surgery, Hôtel Dieu University Hospital, 1, Place du Parvis Notre Dame, 75001, Paris, France. (Email: stefani.alessandro@unimore.it).

The first 20% of the full text of this article appears below.

Primary intrapulmonary thymomas (PITs) are very uncommon, with 28 cases reported to date.^1-3 Because of the paucity of studies, the biologic behavior and pathologic features of these neoplasms are not well known. The C677T methylenetetrahydrofolate reductase (MTHFR) genotype is a congenital disorder leading to low folate levels; the resultant mild hyperhomocysteinemia is associated with increased risk of venous thromboembolism and malignancies.^4,5

We present a case of PIT associated with hyperhomocysteinemia caused by the C677T variant of MTHFR.

Clinical Summary

A 73-year-old woman was admitted for acute dyspnea with bronchospasm in a chronic obstructive pulmonary disease pathologic substrate. Her medical history was marked by episodes of venous thrombosis caused by a mutation of the MTHFR gene that imposed a preventive anticoagulant therapy. Chest radiography revealed an 18-mm nodule in the right upper lobe, which was confirmed by a computed tomographic scan (Figure 1). A positron emission tomographic scan showed a moderate uptake in correspondence of the lesion (standardized uptake value, 2.2). The results of bronchoscopy and computed tomographic scanning of the brain were normal.

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