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J. Miedema



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    P1.02 - Biology/Pathology (ID 614)

    • Event: WCLC 2017
    • Type: Poster Session with Presenters Present
    • Track: Biology/Pathology
    • Presentations: 1
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      P1.02-038 - Bilateral Combined Lymphangioleiomyomatosis and Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia with Typical Carcinoids (ID 9897)

      09:30 - 16:00  |  Author(s): J. Miedema

      • Abstract
      • Slides

      Background:
      Both lymphangioleiomyomatosis (LAM) and diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) are rare entities of diffuse intra-pulmonary cellular proliferation. Thus far, these have not been reported to occur synchronously in the same patient.

      Method:
      We investigated the lungs of a 54 year old woman who underwent bilateral lung transplantation for radiologically and histologically diagnosed sporadic LAM by routine histological and molecular diagnostic procedures.

      Result:
      Upon macroscopic inspection both explanted lungs had a multicystic appearance, with multiple nodules, with a max. diameter of 1.0 cm in the left lung, and a max. diameter of 2.9 cm in the right lung. Microscopically, both lungs contained extensive lesions consistent with LAM, with cystic change and surrounding monomorphic spindle cell proliferations immunohistochemically positive for SMA, ER and HMB-45. In addition, diffuse intraepithelial and nodular proliferations of neuro-endocrine cells were seen, positive for TTF-1, CD56, chromogranin A, and synaptophysin, amounting to DIPNECH with multiple neuroendocrine tumourlets and foci of typical carcinoid. There were no lymph node metastases and SSTR-2A staining was negative in neuro-endocrine cell proliferations. Upon mutation analysis by next generation sequencing using an extended diagnostic panel, no pathogenic mutations were found in the largest carcinoid, but the LAM component contained 2 different TSC2 gene splice variants (TSC2 c.599+1G>A; and TSC2 c.1119+1G>C). In view of these genetic findings the two different disease processes were thought not to be clonally related.

      Conclusion:
      In summary, we present the first case of bilateral combined pulmonary LAM and DIPNECH, which were histomorphologically intricately related but by mutation analysis deemed to be separate entities with presumably distinct histogenesis.

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