The diagnostic role of transbronchial lung cryobiopsy in inflammatory myeloid neoplasms

Simone Petrarulo1, Claudia Ravaglia2, Fabio Sultani1

  • 1Department of Medical Specialities, Pulmonology Unit, GB Morgagni-L. Pierantoni Hospital, Forlì, Italy.

Insights

Transbronchial lung cryobiopsy (TBLC) is a feasible diagnostic tool for inflammatory myeloid neoplasms (IMN). This less invasive procedure shows high diagnostic yield for pulmonary IMN, comparable to surgical lung biopsy.

Area of Science:

  • Pulmonology
  • Pathology
  • Oncology

Background:

  • Inflammatory myeloid neoplasms (IMN), such as Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD), often require histological confirmation.
  • Surgical lung biopsy (SLB) is the traditional diagnostic standard for IMN but is associated with significant morbidity.
  • Transbronchial lung cryobiopsy (TBLC) presents a less invasive alternative, but its diagnostic utility in IMN requires further definition.

Purpose of the Study:

  • To evaluate the diagnostic yield, safety, and feasibility of TBLC for pulmonary IMN.
  • To compare TBLC with SLB in diagnosing IMN.
  • To explore correlations between high-resolution computed tomography (HRCT) findings, pulmonary function, and procedural risks in IMN.

Main Methods:

  • Retrospective analysis of patients diagnosed with pulmonary IMN between 2014 and 2025 who underwent TBLC or SLB.
  • Collection of clinical, radiological, histopathological, and molecular data.
  • Semi-quantitative HRCT scoring to assess cystic and nodular burden, correlated with pulmonary function and pneumothorax risk.

Main Results:

  • TBLC achieved an 81% diagnostic yield (17/21 cases), while SLB was diagnostic in all seven cases.
  • Next-generation sequencing (NGS) on cryobiopsy samples identified MAPK-pathway mutations in three patients.
  • Cystic burden correlated with reduced FEV₁ and DLCO; higher nodular scores in the TBLC group suggested earlier disease stages. Pneumothorax occurred in 17% of TBLC cases, with shorter hospital stays compared to SLB.

Conclusions:

  • TBLC is a feasible and effective diagnostic method for pulmonary IMN.
  • Cystic burden in IMN correlates with functional impairment and may influence procedural risk.
  • TBLC can be safely performed for pulmonary IMN when guided by multidisciplinary evaluation.
Abstract

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