Pulmonary Lymphangioleiomyomatosis on a Post-Menopausal Woman with Chronic Lymphocytic Leukaemia

Abstract

A 62 years old, post-menopausal female was admitted to the Internal Medicine Ward due to dyspnoea, cough and sputum of at least 2 months. Shortness of breath, cough and hypoxaemia persisted and the patient was submitted to a pulmonary angiogram ct which revealed numerous thinwalled air cysts affecting upper and medial zones of both lungs, typical images of pulmonary lymphangioleiomyomatosis. After discharge to Internal Medicine Consultation Service with Metilprednisolone, the patient was no longer hypoxaemic and remained asymptomatic, even after withdrawal of oral corticosteroid to inhalatory formulation. Further surveillance in short time was scheduled in order to implement rapid imunossupressive treatment when necessary.

A genome-wide association study implicatesNR2F2in lymphangioleiomyomatosis pathogenesis

“…Over 600 female S-LAM patients were initially identified and collected through international solicitation during 2010-2014 from 14 countries (supplementary table S1). S-LAM patients were diagnosed using standard diagnostic criteria by their treating physicians [1][2][3][4][5]7]. Genomic DNA was extracted from saliva using the QIAamp DNA Mini Kit (Qiagen, Hilden, Germany) and 479 S-LAM DNA samples were genotyped with the Infinium OmniExpress-24 version 1.2 BeadChip (Illumina, San Diego, CA, USA), which assesses 716 503 single nucleotide polymorphisms (SNPs) across the entire genome.…”

“…Lymphangioleiomyomatosis (LAM) is a rare aggressive low-grade neoplasm which affects almost exclusively females at reproductive age or older and causes progressive cystic lung destruction leading to fatal respiratory failure in subjects with severe disease [1][2][3][4][5][6]. LAM is characterised by an abnormal proliferation of smooth muscle-like and epithelioid cells in innumerable tiny clusters in the lungs, in association with thin-walled cysts and lung parenchymal destruction [7,8].…”