Vatsayan Anant, Talati Ravi, Nagle Kristen, Cabral Linda, Cammock Sloane, Dimarino Amy, Egler Rachel, Saab Shahrazad, Dalal Jignesh
Department of Pediatric Hematology/Oncology, UH Rainbow Babies and Children's Hospital, Cleveland, OH.
J Pediatr Hematol Oncol. 2018 Jul;40(5):e315-e318. doi: 10.1097/MPH.0000000000000977.
Lymphoid interstitial pneumonia (LIP) is a rare disease characterized by benign reactive polyclonal proliferation of bronchus-associated lymphoid tissue after exposure to inhaled or circulating antigen(s), leading to a disease symptomatology similar to idiopathic interstitial pneumonia. Its association with diseases that are caused due to immune dysregulation (autoimmune diseases, congenital/acquired immunodeficiency, and allogeneic bone marrow transplant) and response to immunomodulatory/suppressive medications suggests an immunologic pathophysiology. Although LIP has been reported in association with lymphoproliferative diseases like Castleman disease, it has never been described in patients with leukemia. We report the first case of LIP in a patient with juvenile myelomonocytic leukemia (JMML) who was found to have a novel germline mutation of unknown significance in additional sex combs-like-1 (ASXL1) gene and a pathogenic somatic mutation of protein tyrosine phosphatase, nonreceptor type 11 (PTPN11) gene at diagnosis. The patient underwent a matched unrelated bone marrow transplant for JMML with complete resolution of JMML and LIP with no recurrence to date. We also emphasize the importance of considering LIP in differential diagnosis of pulmonary lesions seen in conjunction with hematologic malignancies and distinguishing it from malignant infiltration of the lung.
淋巴样间质性肺炎(LIP)是一种罕见疾病,其特征为在接触吸入性或循环性抗原后,支气管相关淋巴样组织发生良性反应性多克隆增殖,导致出现与特发性间质性肺炎相似的疾病症状。它与因免疫失调引起的疾病(自身免疫性疾病、先天性/获得性免疫缺陷以及同种异体骨髓移植)相关,且对免疫调节/抑制性药物有反应,提示存在免疫病理生理学机制。尽管已有LIP与如Castleman病等淋巴增殖性疾病相关的报道,但从未在白血病患者中描述过。我们报告了首例患有青少年粒单核细胞白血病(JMML)的LIP患者,该患者在诊断时被发现额外性梳样蛋白-1(ASXL1)基因存在意义不明的新型种系突变,以及蛋白酪氨酸磷酸酶非受体型11(PTPN11)基因的致病性体细胞突变。该患者接受了针对JMML的匹配无关供者骨髓移植,JMML和LIP完全缓解,至今未复发。我们还强调了在鉴别诊断血液系统恶性肿瘤合并肺部病变时考虑LIP并将其与肺恶性浸润相区分的重要性。