Rapid progression of primary cutaneous gamma-delta T-cell lymphoma with an initial indolent clinical presentation.

Primary cutaneous gamma-delta T-cell lymphoma (CGD-TCL) is a rare cutaneous T-cell lymphoma characterized by a rapidly progressive clinical course and a poor prognosis. We report a case of a 52-year-old man with a 10-year history of erythematous nodules and a rapid terminal progression diagnosed as CGD-TCL. Biopsies taken at the time of progression showed a dense lymphocytic infiltrate involving the subcutaneous adipose tissue and deep dermis. One of the biopsies displayed much more limited involvement by CGD-TCL that was nearly identical to the biopsies of the erythematous lesions 10 years before. In conclusion, this case demonstrates a case of CGD-TCL presenting as a longstanding indolent disease with a rapid terminal progression. The indolent clinical course and histological heterogeneity make diagnosing this entity during the initial stage extremely challenging. This case underscores a diverse clinical presentations and a need to consider CGD-TCL in patients showing subcutaneous lesions with an indolent clinical course.

Small airway pathology and bronchoreversibility in advanced emphysema.

BACKGROUND: Poorly reversible airflow obstruction is a hallmark feature of chronic obstructive pulmonary disease (COPD). However, some COPD patients demonstrate significant bronchodilator reversibility (BDR). The pathologic features associated with the presence or absence of this phenomenon are not known. METHODS: We analyzed 67 patients with advanced upper lobe predominant emphysema who underwent lung volume reduction surgery and divided them into 2 groups: the reversible group [BD(+)] had a >12% and >200 mL increase in FEV(1) or FVC with bronchodilator; the irreversible group [BD(-)] had a

Small airway mucous metaplasia and inflammation in chronic obstructive pulmonary disease.

Mucous metaplasia is an important determinant of small airway obstruction in COPD. Its relationship to small airway inflammation is poorly defined. We analyzed 4 to 6 small airways in 19 COPD patients, GOLD stages 0-4, from lobectomy or lung volume reduction surgery tissue samples. To identify intracellular mucin, periodic acid fluorescent Schiff's (PAFS) stained slides were imaged by fluorescence microscopy. PAFS+ staining area, basement membrane length (L(BM)), epithelial height and area were measured. Mucin was expressed as a percentage of epithelial area. Mucin volume density (MVD) was calculated as PAFS+ area divided by the product of L(BM) and 4/pi. Airways were Giemsa stained for eosinophils and immunostained with antibodies against CD3, CD4, CD8, CD68, and neutrophil elastase (NE), and the number of positively stained cells/mm(2) was quantified in the airway wall. Mucin percent correlated with CD3(+) cell density (r = 0.553, P < 0.0001), and MVD correlated with CD3(+) (r = 0.570, P < 0.0001) and CD8(+) cell density (r = 0.279, P = 0.016). There were weak negative correlations between mucin percent as well as MVD and CD68(+) cell density (r = -0.270, P = 0.02 and r = -0.245, P = 0.036). There was no relationship between epithelial mucin content and CD4(+), NE(+), or eosinophil cell density. CD3(+) and CD8(+) lymphocytic inflammation is related to small airway mucous metaplasia in COPD and may play a causative role in its development.

Novel Germline PTEN Mutation Associated with Cowden Syndrome and Osteosarcoma.

BACKGROUND: Cowden syndrome (CS) is a rare autosomal-dominant inherited disorder characterized by multiple hamartomas. While the hamartomas are benign, patients with CS have increased risk of osteosarcoma and of breast, thyroid, endometrial, soft-tissue and colonic neoplasms. Germline mutations of phosphatase and tensin homolog (PTEN) are implicated in CS and in the development of osteosarcoma. We report a patient with CS who presented with osteosarcoma, ganglioneuromatosis and a benign breast mass. Osteosarcoma, as presentation of CS, is rare (only one report in the English literature). Genomic DNA from the patient's peripheral blood was quantified by spectrophotometry, then underwent sequence enrichment, polymerase chain reaction and next-generation sequencing. Molecular analysis revealed a non-synonymous c.17_18delAA frameshift mutation in exon 1 of PTEN and a c.116G>T (p.R39L) missense mutation of serine/threonine kinase 11 (STK11) of unknown significance. CONCLUSION: We report a patient with CS presenting with ganglioneuromatosis, benign breast mass and osteosarcoma, harboring a novel molecular alteration in PTEN which to our knowledge has not been previously reported.

Ovarian microcystic stromal tumor: Radiologic-pathologic correlation.

Ovarian microcystic stromal tumor (MST) is characterized by microcysts, solid cellular regions with lobulated growth, and collagenous or fibrous stroma forming hyaline plaques. While several reports have evaluated the unique pathologic and immunohistochemical profile of these tumors, there has been limited description of the radiologic findings of ovarian microcystic stromal tumor in the literature. We present a case of a 66 year old female who presented for evaluation of a new cystic pelvic mass found to have ovarian microcystic stromal tumor. To our knowledge, this is one of the first reports to evaluate the radiologic features associated with this tumor. An enhanced understanding of the correlation between imaging appearance and specific histopathologic findings may aid in the early recognition of this rare neoplasm.

Kimura disease.

Kimura disease is a benign rare chronic inflammatory disorder of unknown etiology that involves the lymph nodes and subcutaneous tissue of the head and neck regions. Elevated serum immunoglobulin E levels and peripheral blood eosinophilia are also common. This disease is most common in middle-aged Asian men. Although the etiology is unknown, it most probably represents an aberrant chronic immune response. Treatment for Kimura disease includes surgical resection and regional or systemic steroid therapy. Cytotoxic therapy and radiation have also been utilized. The disease has an excellent prognosis, although it may recur locally.