A pair of DICER1‐positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis

Li, Sihui; Cai, Siyu; Wang, Xisi; Zhang, Dawei; Fu, Libing; Zeng, Qi; Peng, Xiaoxia; Ma, Xiaoli

doi:10.1002/pbc.26680

Cited by 4 publications

(4 citation statements)

References 19 publications

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“…As described previously [8], a girl aged 4 years and 2 months old (Twin1) was diagnosed with PPB Type II. She underwent left lower lobectomy with complete removal (R0 resection) at diagnosis and then completed 12 cycles of chemotherapy with IVADo (ifosfamide, vincristine, actinomycin D, doxorubicin) and IVA (ifosfamide, vincristine, actinomycin D), resulting in cumulative doses of ifosfamide and doxorubicin of 48 g/m 2 and 240 mg/m 2 .…”

Section: Casementioning

confidence: 88%

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Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report

Zhang

Wang

et al. 2020

Ital J Pediatr

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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 19-month-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.

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Section: Casementioning

confidence: 88%

“…Their family history showed that their mother and two aunts had thyroid nodules and their maternal grandmother died of thyroid cancer. Analysis of peripheral blood samples revealed a germline DICER1 mutation: c.C3675A (p.Y1225X) in the twins and their mother [8].…”

Section: Casementioning

confidence: 99%

Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report

Zhang

Wang

et al. 2020

Ital J Pediatr

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“…PPB is the most common primary malignancy of the lungs in childhood . More than 65% of these patients have germline DICER1 mutations.…”

Section: Discussionmentioning

confidence: 99%

“…PPB is the most common primary malignancy of the lungs in childhood. [1][2][3][4] More than 65% of these patients have germline DICER1 mutations. Many PPBs may initially manifest as pulmonary multilocular cysts with subsequent progression.…”

Section: Discussionmentioning

confidence: 99%

Clinical analysis of early death in children with pleuropulmonary blastoma in a single center in China

Chai

Zhang

et al. 2019

Pediatric Blood & Cancer

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Objective Pleuropulmonary blastoma (PPB) is a rare malignant tumor in childhood that is highly invasive and has poor prognosis. We retrospectively analyzed patients with PPB who died within 30 days in hopes of providing a basis for improving diagnosis and treatment. Methods We retrospectively reviewed six children with PPB who died within 30 days of admission at our hospital from January 2004 to March 2018, including their clinical features, pathological diagnosis, course of treatment, and major causes of death. Results Six patients (two female, four male; median age, 38 months) were included. All patients presented with respiratory symptoms. Chest imaging showed that all tumors had diameters greater than 10 cm, with varying degrees of serous effusion. Four patients underwent ultrasound‐guided fine‐needle aspiration (FNA), one patient underwent exploratory thoracotomy, and one underwent partial tumor resection. Five cases were type III, and another was type II. Four patients developed adverse events while waiting for pathological results after FNA, and four patients were treated with chemotherapy but their tumors failed to decrease in size one to two weeks later. The median hospitalization to death time was 17 days (range, 5–24 days). Conclusions PPB often presents with respiratory symptoms that rapidly develop into respiratory distress. The rapid tumor enlargement contributes to the disease's progression. Chemoreduction in such tumors is not obviously effective, and the mortality rate is high. The main causes of death were respiratory failure and sepsis. Further clinical studies will be required to evaluate the role of initial biopsy compared with upfront total excision.

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Pleuropulmonary Blastoma

2018

Diagnostic Pathology: Pediatric Neoplasms

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A pair of DICER1‐positive monozygotic twins: One with pleuropulmonary blastoma, another with acute transient hepatitis

Cited by 4 publications

References 19 publications

Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report

Outcome of two pairs of monozygotic twins with pleuropulmonary blastoma: case report

Clinical analysis of early death in children with pleuropulmonary blastoma in a single center in China

Pleuropulmonary Blastoma

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