Ann Thorac Surg 2004;77:2204-2206
© 2004 The Society of Thoracic Surgeons
Case report
Pulsating thoracic tumor caused by extragenital endometriosis in a patient with Noonan syndrome
Theresa Seeliger, MDa*,
Jens-Uwe Voigt, MDa,
Helmut Singer, MDb,
Werner G. Daniel, MDa,
Holger Rupprecht, MDc
a Department of Internal Medicine II, University Erlangen-Nürnberg, Erlangen, Germany
b Department of Pediatric Cardiology, University Erlangen-Nürnberg, Erlangen, Germany
c Department of Surgery, Municipal Hospital Hof, Hof, Germany
Accepted for publication June 6, 2003.
* Address reprint requests to Dr Seeliger, Department of Internal Medicine II, University Erlangen-Nürnberg, Ulmenweg 18, D-91054 Erlangen, Germany
e-mail: theresaseeliger{at}aol.com
 |
Abstract
|
|---|
We present the case of a 36-year-old woman with Noonan syndrome and congenital heart disease in whom extragenital endometriosis caused an extraordinarily large jelly-like paracardiac and abdominal mass. Protrusion through an intercostal space caused a pulsating subcutaneous tumor on the left lateral thoracic wall. The patient never complained of menstruation-related pain. Histology obtained during several prior surgical interventions had been inconclusive. Thus definitive diagnosis was delayed for years. A literature review revealed no known association between Noonan syndrome and endometriosis.
|
Introduction
|
|---|
Endometriosis is relatively common, with an estimated prevalence of 5% to 10% among women of childbearing age [1]. The typical location is the pelvis, with lesions in the intestine or the urinary tract. Thoracic endometriosis is the most common extrapelvic location, but exotic manifestations in meninges or vertebrae have been reported [2]. Although a well-known disease, endometriosis may be difficult to diagnose in the individual patient, the wide range of symptoms being diagnostic obstacles. We report a case with an unusual manifestation of thoracic endometriosis.
A female patient with Noonan syndrome had undergone early childhood repair of congenital pulmonary stenosis and atrial septal defect by open commissurotomy, resection of the infundibulum, and direct closure of the atrial septum. When the patient was 17 years old, a paracardiac mass of 10 x 4 cm had been detected on echocardiography. Surgery was performed for a suspected rhabdomyoma. Histologic analysis of the removed jelly-like mass, however, revealed organized thrombi with segmental calcifications only.
At the age of 33, the patient presented with dyspnea on exertion and abdominal pain in the left upper quadrant. Computed tomography again demonstrated a large paracardiac mass, now continuing into a similar subphrenic structure (diameters 7 and 8 cm, respectively), with both liquid and calcified parts. Hence, the presence of a partly calcified hematoma with continuation into the subdiaphragmatic space was assumed and the thoracic part of the mass was removed surgically. Again, histology offered no definite diagnosis. Subsequently, the stenotic pulmonary valve was replaced with a bioprosthesis.
Three years later, at the age of 36 years, the patient complained of progressive dyspnea, weight loss, fatigue, palpitations, and anxiety. Physical examination revealed a subcutaneous lump on the left lateral thoracic wall pulsating synchronously with the heart (Fig 1).
During the following weeks the lump grew steadily. Magnetic resonance imaging revealed the recurrence of a paracardiac mass, with displacement of heart, left pulmonary lobe, and compression of the left pulmonary veins. Solid and liquid structures connected the mass to its remaining abdominal part and continued through an intercostal space into the thoracic subcutis, forming the pulsating lump (Fig 2).
Contrast-enhanced studies excluded any connection to the vascular system.
View larger version (152K):
[in this window]
[in a new window]
|
Fig 2. Magnetic resonance scan 3 months before surgery. An inhomogeneous tumor extends throughout thorax and abdomen. Note the penetration of the tumor through the intercostal space (arrow).
|
|
Although the patient had no history of menstruation-related pain and despite her CA-125 serum level being within normal range, endometriosis was considered as a possible diagnosis and the patient was scheduled for another thoracic and abdominal surgery. After opening the chest, large amounts of blood and thrombus drained spontaneously. The left pleura and diaphragm were found to be partly covered by calcified layers. The diaphragm had a perforation of 5 cm diameter. Through this perforation the mass had spread into the abdomen and the liver, producing a subcapsular abscess. Abdominal exploration revealed numerous blue-brown endometriosis-like nodules across the peritoneum and small intestine. The thoracic and abdominal hemorrhagic masses could be almost entirely resected. The diaphragm had to be partially removed and was replaced by a Vicryl plastic tissue. Histologic analysis of the thoracic mass revealed fibrous tissue with an accumulation of histiocytes neighbored by necrotic hemorrhagic material. Biopsies from the intestine contained pieces of a cystic nodule filled with necrotic material. Endometrial glandular stroma was not detected.
Postoperative recovery was uneventful. To suppress estradiol release, a treatment with the leuteinizing hormone-releasing hormone-agonist Goserelin was started. Follow-up after 1 year showed no relapse.
|
Comment
|
|---|
Noonan syndrome is a genetically determined disorder with an estimated prevalence of 1 in 2,000 births [3]. Typical characteristics include congenital heart disease, short stature, mild mental retardation, and dysmorphic facial features such as broad forehead, hypertelorism, and short neck. Noonan [4], who first described the syndrome in 1968, therefore called it "hypertelorism with Turner phenotype." Of patients diagnosed with Noonan syndrome, 50% suffer from heart defects, the most frequent being pulmonary stenosis due to dysplastic valvular tissue [5]. A review of the literature revealed no other case of a Noonan patient affected by endometriosis. In our patient no obvious causal relation was noted between the diseases, which may have occurred coincidentally.
Thoracic endometriosis is a rare condition, with an incidence of only 2% of all cases of extragenital endometriosis [2]. Several explanations have been proposed for its formation: menstrual blood could regurgitate into the pelvis and pass the diaphragm through congenital fenestrations or lymphatic channels; manipulation during uterine surgery could mobilize endometrial cells and, finally, metaplasia of endometrial cells from embryonic peritoneal tissue may occur [6]. Thoracic endometriosis may be located on the pleural surface of the diaphragm and chest wall as well as in the pulmonary parenchyma. The right thoracic side is more frequently affected than the left. Usually lesions are solitary, but miliary spread is possible. Hemorrhagic pleural effusion may result. The most striking symptom is pneumothorax during menstruation—the so-called catamenial pneumothorax. Hemoptysis is a possible symptom when lesions are connected to the bronchial tree. Imaging techniques reveal endometrial lesions as cystic defects or irregular condensations, which may vary in size during the menstrual cycle. The lesions can infiltrate neighboring organs and cause fibrosis.
In our patient, the features of thoracic endometriosis were obviously different from descriptions in prior publications. Incessant local bleeding over the years caused a large tumor with expansion through the chest and abdominal cavity. In an advanced clinical stage the tumor spread through an intercostal space into the thoracic subcutaneous tissue to form a pulsating lump. Bleeding diathesis due to coagulation factor XI deficiency or platelet dysfunction [7] is well recognized in Noonan syndrome. This may have supported the expansion of the masses in our patient, who did not receive anticoagulation treatment. Differential diagnoses included a primary cardiac tumor, rhabdomyoma, teratoma, calcified hematoma, or abscess, all of which were ruled out by histology. A definite diagnosis was possible only after abdominal endometriosis was found during surgery. Multiple histologic analyses of thoracic biopsies failed to detect glandular endometrial tissue. Only secondary findings of endometriosis could be detected, such as necrotic hemorrhagic tissue and calcifications. CA-125 level, a serologic marker for endometriosis that is known to increase with advanced clinical stages, was negative.
In conclusion, endometriosis must be considered even in large displacing tumors and despite the absence of typical cyclical symptoms or laboratory markers. Histologic detection of glandular stroma may fail within the clotted masses. Noonan syndrome and endometriosis are not recognized as associated syndromes.
|
References
|
|---|
- Honore GM. Extrapelvic endometriosis. Clin Obstet Gynecol 1999;42:699–711
- Bergqvist A. Extragenital endometriosis: a review. Eur J Surg 1992;158:7-12.[Medline]
- Saenger P. Noonan syndrome—cercitude replaces conjecture. J Clin Endocrinol Metab 2002;87:3527-3528.[Free Full Text]
- Noonan J.A. Hypertelorism and turner phenotype. A new syndrome with associated congenital heart disease. Am J Dis Child 1968;116:373-380.[Abstract/Free Full Text]
- Burch M., Sharland M., Shinebourne E., Smith G., Patton M., McKenna W. Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol 1993;22:1189-1192.[Abstract]
- Van Schil P.E., Vercauteren S.R., Vermeire P.A., Nackaerts Y.H., Van Marck E.A. Catamenial pneumothorax caused by thoracic endometriosis. Ann Thorac Surg 1996;62:585-586.[Abstract/Free Full Text]
- Singer S.T., Hurst D., Addiego J.E. Bleeding disorders in Noonan syndrome: three case reports and review of the literature. J Pediatr Hematol Oncol 1997;19:130-134.[Medline]
Top
Abstract
Introduction
