Abstract Title

Report of a Rare Case of Pleuropulmonary Blastoma with DICER1 Gene Mutation

Presenter Name

Priscilla S. LaCroix

RAD Assignment Number

201

Abstract

Background: Pleuropulmonary Blastoma (PPB) is an extremely rare pediatric lung tumor typically composed of lung mesenchyme. Recent studies have suggested that familial cases of PPB are associated with DICER1 gene mutation.

Objective: Although most congenital lung cysts are benign and require no further intervention, it is important to consider rare entities such as Pleuropulmonary Blastoma. Early evaluation and intervention impacts the prognosis of patients with PPB as removal of the tumor before further histological progression is correlated with improved outcome (1). We also aim to stress the importance of DICER1 gene mutation surveillance for patients diagnosed with PPB and their families.

Design/Method: We report a previously healthy two-year-old girl who presented with a several week history of fever and intermittent cough. Review of family history revealed that the patient's father had been diagnosed with a right lower lobe lung cyst at the age of sixteen and underwent surgical resection. The father’s histological diagnosis is not available. In addition, the father has had a partial thyroidectomy for goiter and is currently undergoing evaluation of new thyroid nodules. Radiologic investigation of the patient demonstrated a right lung cyst. The patient underwent resection of the cyst with corresponding lobectomy. Histological diagnosis was consistent with Type II PPB with negative margins. No evidence of metastatic disease was identified.

Results: Through genetic studies, the patient has been found to be positive for DICER1 gene mutation. She is currently receiving adjuvant chemotherapy with ifosfamide, dactinomycin, doxorubicin and vincristine and remains in remission with plans for future follow-up to include surveillance for malignancy associated with DICER1 gene mutation including cystic nephroma, small bowel polyps, ovarian tumors, intra ocular medulloepithelioma, and nasal chondromesenchymal hamartoma.

Conclusion: The association of this autosomal dominant mutation with PPB has prompted genetic counselling for our patient and others (2), in order to identify at-risk relatives of all ages with the mutation who may benefit from surveillance. We recommend: 1. Multi institutional clinical trials and increased awareness of this rare tumor among Pediatric Oncologists, Pathologists and Surgeons. 2. Appropriate clinical evaluation of all lung cysts and surgical resection aimed towards securing negative margin, given that recurrent and metastatic PPBs are associated with poor outcome (1).

Presentation Type

Poster

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Report of a Rare Case of Pleuropulmonary Blastoma with DICER1 Gene Mutation

Background: Pleuropulmonary Blastoma (PPB) is an extremely rare pediatric lung tumor typically composed of lung mesenchyme. Recent studies have suggested that familial cases of PPB are associated with DICER1 gene mutation.

Objective: Although most congenital lung cysts are benign and require no further intervention, it is important to consider rare entities such as Pleuropulmonary Blastoma. Early evaluation and intervention impacts the prognosis of patients with PPB as removal of the tumor before further histological progression is correlated with improved outcome (1). We also aim to stress the importance of DICER1 gene mutation surveillance for patients diagnosed with PPB and their families.

Design/Method: We report a previously healthy two-year-old girl who presented with a several week history of fever and intermittent cough. Review of family history revealed that the patient's father had been diagnosed with a right lower lobe lung cyst at the age of sixteen and underwent surgical resection. The father’s histological diagnosis is not available. In addition, the father has had a partial thyroidectomy for goiter and is currently undergoing evaluation of new thyroid nodules. Radiologic investigation of the patient demonstrated a right lung cyst. The patient underwent resection of the cyst with corresponding lobectomy. Histological diagnosis was consistent with Type II PPB with negative margins. No evidence of metastatic disease was identified.

Results: Through genetic studies, the patient has been found to be positive for DICER1 gene mutation. She is currently receiving adjuvant chemotherapy with ifosfamide, dactinomycin, doxorubicin and vincristine and remains in remission with plans for future follow-up to include surveillance for malignancy associated with DICER1 gene mutation including cystic nephroma, small bowel polyps, ovarian tumors, intra ocular medulloepithelioma, and nasal chondromesenchymal hamartoma.

Conclusion: The association of this autosomal dominant mutation with PPB has prompted genetic counselling for our patient and others (2), in order to identify at-risk relatives of all ages with the mutation who may benefit from surveillance. We recommend: 1. Multi institutional clinical trials and increased awareness of this rare tumor among Pediatric Oncologists, Pathologists and Surgeons. 2. Appropriate clinical evaluation of all lung cysts and surgical resection aimed towards securing negative margin, given that recurrent and metastatic PPBs are associated with poor outcome (1).