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INDIANA ASSOCIATION OF PATHOLOGISTS


Case title: A 13-year-old boy presented with generalized lymphadenopathy

Contributed by : Shanxiang Zhang, MD, PhD

  Assistant Professor of Pathology & Laboratory Medicine

   Indiana University School of Medicine

   Publications

Assistant Professor of Pathology & Laboratory Medicine


Clinical history: A 13-year-old boy presented a painless left cervical adenopathy, increased fatigue, loss of appetite, occasional mild night sweats and a 30-pound weight loss for five months. CT imaging study of the chest, abdomen and pelvis showed multiple enlarged lymph nodes with largest measuring 4.5 cm in the left neck, mediastinum, left hilum, epigastrium, splenic hilum, and peripancreatic areas. Multiple splenic lesions (largest 3.1 cm) were also identified. Liver was unremarkable. An excisional biopsy of left supraclavicular lymph node was performed.

Gross examination: The excised specimen consisted of two portions of red-tan soft tissue, measuring 2.5 cm and 0.8 cm at greatest dimension.

Microscopic examination and immunohistochemistry: 

 An excisional biopsy of enlarged left supraclavicular lymph node showed extensive nodal architectural effacement by a nodular proliferation containing scattered large atypical mononucleated, binucleated and multinucleated cells with prominent eosinophilic nucleoli in the background of eosinophils, small lymphocytes, and plasma cells. The large atypical cells were positive for PAX-5 (weak), CD30 and CD15 (partial), and negative for CD3, CD20, CD45RB, and ALK-1 by immunohistochemical stains (Fig.1A to C).

Scroll to the bottom for Final Diagnosis and Discussion link. 

PC users--right click on an image to open it in a new window then zoom to enlarge.

Fig 1a. CHL_40x


Fig 1a. CHL_40x

Fig 1b. CD30 x40


Fig 1b. CD30 x40

Fig 1c. CD15 x40


Fig 1c. CD15 x40

In addition, there were multiple distinct sheets of large cells with nuclear grooves and abundant eosinophilic cytoplasm, which were positive for CD43, CD1a, S-100, and langerin, confirming them to be Langerhans cells (Fig.1D to F). Repeated next-generation sequencing of microdissected Langerhans cells identified the BRAF V600E mutation with an allele frequency of 2% to 4%, whereas no MAP2K1 hotspot mutations were identified.

Fig 1d. 40x


Fig 1d. 40x


Fig 1e. CD1a x40

Fig 1e. CD1a x40


Fig 1 f. Langerin x40


Fig 1 f. Langerin x40




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