Cervical Small Cell Variant of Paraganglioma With Sarcomatous Transformation: Report of a Unique Case.

We report a unique primary cervical neoplasm in a 44-yr-old woman which we believe, based on the morphology and immunophenotype, represents an extremely unusual small cell variant of paraganglioma. This represents the first report of a primary cervical paraganglioma. Following chemoradiation treatment, the tumor underwent malignant transformation into an S100 and SOX10 positive sarcoma, morphologically and immunohistochemically resembling a malignant peripheral nerve sheath tumor, which we believe represents a sarcoma derived from the sustentacular cells of the paraganglioma. Mutational analysis detected a nonsense mutation of NF1 gene in the sarcoma. This further supports the diagnosis as both somatic and germline NF1 mutations have been associated with paragangliomas and malignant peripheral nerve sheath tumors. Targeted RNA sequencing (ARCHER, expanded sarcoma panel) covering many known genes implicated in sarcoma development, did not reveal any other molecular alteration (fusion or internal tandem duplication).

Mediastinal granulomatous lymphadenitis in a population at risk for HIV and tuberculosis.

BACKGROUND: Granulomatous inflammation on transbronchial needle aspirates from mediastinal lymph nodes is an infrequent yet important finding. We determined associations between cytomorphological features and underlying aetiology in an area of high prevalence of HIV-infection and tuberculosis. METHODS: We identified cases with granulomatous inflammation on mediastinal aspirates from January 2003 to July 2010. Cytomorphological features were evaluated and graded according to a simple and reproducible system including the presence, quality (discrete or vague), and number (≤5 or more) of granulomas as well as the presence of necrosis, lymphocytes, multinucleated giant cells, and neutrophils. RESULTS: In 81 patients (36 male, 9 HIV-positive) the final diagnosis was tuberculosis in 37 (46%), sarcoidosis in 40 (49%), fibrosing mediastinitis in 1 (1%), and unknown in 3 (4%). The presence of necrosis (P < 0.001) and neutrophils (P = 0.05) was associated with tuberculosis and numerous discrete granulomas were associated with sarcoidosis (P = 0.03). All HIV-positive patients were diagnosed with tuberculosis. CONCLUSION: Granulomatous disease identified on TBNA from mediastinal lymph nodes is mostly associated with sarcoidosis and tuberculosis. Ancillary investigations for sarcoidosis are appropriate if numerous discrete granulomas are found. Tuberculosis must be excluded if necrosis and neutrophils are present and in HIV-positive individuals, particularly in high-burden areas of tuberculosis.