Poland syndrome is a rare congenital abnormality of the chest wall that has been associated with many different malignancies. To our knowledge, we present the first case of Poland’s syndrome associated with extragonadal seminoma.
A 32 year-old Honduran man presented with a subacute history of recurrent hemoptysis associated with dull chest pain, dyspnea on exertion, dysphagia, weight loss and fevers. Past medical history was significant for congenital asymmetry of the chest and tobacco abuse. On examination the left anterior chest wall appeared asymmetrically sunken with diminished breath sounds over the LUL. Admission WBC was 16.1 K/uL and LDH 240 IU/L. CXR revealed a 7.5 cm LUL mass with an adjacent 2.8 cm thick walled cavity and hyperlucency of the remaining the left hemithorax. CT chest additionally showed absence of the left pectoralis major muscle, narrowing of both the left pulmonary artery and LUL bronchus, and mediastinal lymphadenopathy. Imaging studies for extrathoracic spread of disease and fungal serologies were negative. β-HCG, α-FP and CEA tumor markers were unremarkable. Sputum cytology was positive for cells suggestive of but not diagnostic for malignancy. Transbronchial and subcarinal biopsies showed a highly unusual tumor loosely resembling adenocarcinoma. Immunohistochemical staining favored a diagnosis of extragonadal seminoma. Chemotherapy was started but upon follow-up the disease had progressed significantly, manifested by further mass enlargement, mediastinal shift, tracheal compression, a pleural effusion, WBC of 41.3 K/uL and respiratory stridor. Urgent radiation therapy was started and a biopsy of a new left chest wall lymph node was obtained. Repeat immunochistochemical results were unchanged. Flow cytometry ruled out lymphoma. Microscopic evaluation revealed cells with large pleomorphic atypical nuclei and abundant clear cytoplasm mixed with numerous mature lymphocytes on a lacy linear background producing a “tigroid” pattern. Finally, chromosomal analysis showed the presence of multiple clonal abnormalities in all cells, including extra copies of 9q and of 12p. These findings were felt to be diagnostic of seminoma and second line chemotherapy was started. Ultimately there was no clinical response and the patient expired.
Congenital abnormalities of the chest are rare in the adult population. When the abnormality results in partial depression of the anterior chest wall the differential diagnosis includes pectus excavatum, anterior thoracic hypoplasia, Poland’s syndrome, and skeletal dysplasia. Although radiographically distinguishable, only Poland’s syndrome has been associated with malignancy. Poland’s syndrome is characterized by the absence of at least the costosternal portion of the pectoralis major muscle combined with a wide spectrum of hypoplasia or aplasia of the ipsilateral breast, nipple, pectoralis minor muscle, ribs and hand. Although an environmental interruption of the embryonic limb blood supply is the favored etiologic theory, genetic defects cannot be ruled out given reports of several familial occurrences. Poland’s syndrome has been associated with a variety of malignancies including leukemia, non-Hodgkin’s lymphoma, leiomyosarcoma and breast cancer. Classic findings of seminoma, as in our case, include 12p amplification, lymphocytic infiltration, and a “tigroid” background. Previous reports on malignancy with Poland’s syndrome have not described an aggressive predilection of the associated cancer as was seen in this case.
In adults presenting with a congenital depression of the chest wall and a lung mass, the likelihood of Poland’s syndrome is high. Similar to other congenital abnormalities, Poland’s syndrome is associated with malignancy but to date no genetic cause has been identified. The clinical course described emphasizes the importance of persistent aggressive tissue evaluation when a diagnosis remains uncertain. Adults with Poland’s syndrome require vigilant cancer screening.
David Sonetti, No Financial Disclosure Information; No Product/Research Disclosure Information