<i>DICER1</i>‐Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency

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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“…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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“…11 Patients with DICER1 syndrome are at high risk of developing PPB, CN, SLCT, and multinodular goiter. 15,16 DICER1 mutation sequencing 17 of the peripheral blood of the twins and their mother showed presence of mutation c.C3675A. This base substitution leads to a new stop codon resulting in a nonsense mutation that would create Y1225X amino acid change.…”

Section: Discussionmentioning

confidence: 99%

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

Cai

Wang

et al. 2017

Pediatric Blood & Cancer

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Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children that is associated with a germline mutation in DICER1. In this report, we share an interesting case of a pair of monozygotic twins: one of them developed PPB when she was 4-year old, while the other developed acute transient hepatitis when she was 5-year old. Next-Gen sequencing for DICER1 mutations of their family revealed that both twins and their mother had c.C3675A mutation. The mother also had a history of multinodular goiter. Identification of DICER1 mutation carriers and close surveillance of individuals at risk for DICER1 syndrome may allow early detection and hence better outcome.

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“…To the Editor: We read with interest the recent Letter to the Editor describing a 4‐year‐old female with a pleuropulmonary blastoma (PPB) and selective immunoglobulin IgA deficiency (SIgAD) but no detected germline DICER1 mutation . Three statements in the letter merit clarification and additional comment.…”

Section: Serum Immunoglobulins (Iga) In Dicer1‐mutation Carriers and mentioning

confidence: 99%

Comment on: DICER1‐Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency

Stewart

Givens

Harris

et al. 2016

Pediatric Blood & Cancer

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DICER1‐Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency

Cited by 7 publications

References 5 publications

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

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

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

Comment on: DICER1‐Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency

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