Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report
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CASE REPORT
Open Access
Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report Shihan Zhang1, Xisi Wang1, Sihui Li2, Siyu Cai3, Tong Yu4, Libing Fu5, Na Zhang6, Xiaoxia Peng3, Qi Zeng6 and Xiaoli Ma1*
Abstract Background: Pleuropulmonary blastomas (PPB) are rare aggressive paediatric lung malignancies and are among the most common DICER1-related disorders: it is estimated that 75–80% of children with a PPB have the DICER1 mutation. DICER1 mutations are responsible for familial tumour susceptibility syndrome with an increased risk of tumours. In approximately 35% of families with children manifesting PPB, further malignancies may be observed. Symptoms of DICER1 syndrome may vary, even within monozygotic twins. Preventive screening of carriers with DICER1 mutations is important and follow-up is undertaken as recommended by the 2016 International PPB Register. Case presentation: We present two pairs of monozygotic twins. In one pair of 4-year, 2-month old girls, both with DICER1 mutation, one developed PPB(II) and her identical sibling had acute transient hepatitis. In the other pair of 19month-old female babies, one had a history of bronchopulmonary hypoplasia and developed PPB(III) without DICER1 mutation, and her identical sibling had allergic asthma. Both patients with PPB were treated with R0 resection and received 12 cycles of postoperative chemotherapy. At the most recent review, the twins had been followed up for six and eight years, respectively, and they all remained healthy. However, the height and weight of the patients with PPB were lower than those of their respective identical sister. Conclusions: PPB is rare, especially in monozygotic twins. We emphasise the importance of genetic testing and follow-up in monozygotic twins with PPB. During the follow-up, children surviving PPB should be monitored closely for growth and development disorders which caused by chemotherapy. Keywords: Monozygotic twins, Pleuropulmonary blastoma, Long-term survival
Background Pleuropulmonary blastoma (PPB) is a potentially aggressive, rare childhood neoplasia. It is the most common primary malignant lung tumour in children [1]. PPB is classified into three main types: type I is purely cystic; type * Correspondence: [email protected] 1 Beijing Key Laboratory of Pediatric Hematology Oncology, National Discipline of Pediatrics, Ministry of Education, MOE Key Laboratory of Major Diseases in Children, Hematology Oncology Center, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China Full list of author information is available at the end of the article
II is mixed cystic and solid; and type III is an entirely solid and typically aggressive sarcoma [2]. The type of PPB correlates to the age of diagnosis and prognosis. The 5-year disease-free survival (DFS) and overall survival (OS) rates for Type I PPB are 82 and 91% respectively [3]. For Type II and Type III PPB, the 5-year DFS rate is 59 and 37%, respectively, and the 5-year OS rate is 7
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