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Diffuse lung disease of infancy: a pattern-based, algorithmic approach to histological diagnosis
Jane E Armes1, William Mifsud2, Michael Ashworth2
1Department of Anatomical Pathology, Mater Health Services, South Brisbane, Queensland, Australia.
Insights
This study introduces a new histological pattern-based approach for diagnosing diffuse lung disease in infants. This method aids pathologists, especially those less experienced, in providing timely and accurate interim reports.
Area of Science:
- Pediatric Pathology
- Pulmonary Medicine
- Histopathology
Background:
- Diffuse lung disease (DLD) in infancy presents unique challenges due to its distinct etiology and prognosis compared to older age groups.
- Accurate diagnosis is critical, as many DLD cases in infants carry a poor prognosis and significantly impact management decisions.
- Referrals to specialist centers suggest that initial diagnoses are often made by pathologists with less experience in infant DLD.
Purpose of the Study:
- To present an algorithmic, histological, pattern-based diagnostic approach for diffuse lung disease of infancy.
- To assist pathologists in generating accurate interim reports and excluding inappropriate diagnoses.
- To facilitate timely and effective multidisciplinary decision-making for infant DLD cases.
Main Methods:
- Development of an algorithmic approach to DLD diagnosis based on histological patterns.
- Integration of clinical, radiological, and ancillary diagnostic studies.
- Emphasis on multidisciplinary team (MDT) input for case evaluation.
Main Results:
- The proposed histological pattern-based approach can lead to accurate and useful interim diagnostic reports for DLD of infancy.
- This method aids in the timely exclusion of incorrect diagnoses.
- It supports informed decisions regarding the need for referral to specialist centers.
Conclusions:
- A histological pattern-based diagnostic strategy, combined with multidisciplinary expertise, offers a valuable framework for managing DLD of infancy.
- This approach enhances diagnostic accuracy and efficiency, particularly for pathologists managing initial cases.
- It empowers MDTs to make better-informed decisions regarding patient care and further investigations.
Abstract:
Diffuse lung disease (DLD) of infancy has multiple aetiologies and the spectrum of disease is substantially different from that seen in older children and adults. In many cases, a specific diagnosis renders a dire prognosis for the infant, with profound management implications. Two recently published series of DLD of infancy, collated from the archives of specialist centres, indicate that the majority of their cases were referred, implying that the majority of biopsies taken for DLD of infancy are first received by less experienced pathologists. The current literature describing DLD of infancy takes a predominantly aetiological approach to classification. We present an algorithmic, histological, pattern-based approach to diagnosis of DLD of infancy, which, with the aid of appropriate multidisciplinary input, including clinical and radiological expertise and ancillary diagnostic studies, may lead to an accurate and useful interim report, with timely exclusion of inappropriate diagnoses. Subsequent referral to a specialist centre for confirmatory diagnosis will be dependent on the individual case and the decision of the multidisciplinary team.

