Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1

Puckett, Yana; Howe, Julie; Vane, Dennis W.; Agarwal, Ankur; Batanian, Jacqueline R.; Greenspon, José

doi:10.1016/j.epsc.2015.06.004

Cited by 5 publications

(7 citation statements)

References 15 publications

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“…It accounts for 0.5% of all pediatric malignancies . Between 25 and 50 children are diagnosed with PPB annually in the United States; it shows no predilection for gender . More than 90% of PPB cases arise in children less than 6 years of age .…”

Section: Introductionmentioning

confidence: 99%

“…There are three pathologic types of PPB: type Ⅰ or purely cystic, type Ⅱ or cystic/solid, and type Ⅲ or purely solid. The clinical presentation of PPB varies with age and tumor type, and they are often misdiagnosed as respiratory tract infection or pneumothorax . The treatment of PPB is multidisciplinary and includes surgery, chemotherapy, and/or radiation therapy, the combination of which depends on the type and aggressiveness of the disease …”

Section: Introductionmentioning

confidence: 99%

“…The DICER1 gene encodes an RNase III‐family endonuclease that cleaves precursor microRNAs (pre‐miRNA) into active miRNA. In addition to PPB, DICER1 syndrome includes thyroid tumors, cystic nephroma (CN), embryonal rhabdomyosarcoma, ovarian Sertoli–Leydig cell tumors (SLCT), pinealoblastoma, gynandroblastoma, pituitary blastoma, other childhood central nervous system tumors, nasal chondral mesenchymal hamartoma, and small bowel polyps …”

Section: Introductionmentioning

confidence: 99%

“…[1][2][3] Between 25 and 50 children are diagnosed with PPB annually in the United States; it shows no predilection for gender. 4 More than 90% of PPB cases arise in children less than 6 years of age. 3 There are three pathologic types of PPB: type Ⅰ or purely cystic, type Ⅱ or cystic/solid, and type Ⅲ or purely solid.…”

Section: Introductionmentioning

confidence: 99%

“…The clinical presentation of PPB varies with age and tumor type, and they are often misdiagnosed as respiratory tract infection or pneumothorax. [4][5][6][7] The treatment of PPB is multidisciplinary and Abbreviations: ALT, alanine aminotransferase; AST, aspartate aminotransferase; CN, cystic nephroma; CT, computed tomography; LOF, loss of function; PPB, pleuropulmonary blastoma; SLCT, Sertoli-Leydig cell tumors; WBC, white blood cell includes surgery, chemotherapy, and/or radiation therapy, the combination of which depends on the type and aggressiveness of the disease. 8 PPB is the hallmark tumor in DICER1 syndrome.…”

Section: Introductionmentioning

confidence: 99%

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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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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

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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Cytomorphologic features of thyroid disease in patients with DICER1 mutations: A report of cytology–histopathology correlation in 7 patients

Darbinyan

Morotti

Cai

et al. 2020

Cancer Cytopathology

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BACKGROUND: Germline and somatic mutations of DICER1 have been identified in various types of neoplastic lesions, with germline DICER1 mutation being linked to autosomal dominant hereditary pleiotropic tumor syndrome (DICER1 syndrome). Patients with DICER1 syndrome are at increased risk of developing thyroid disease, including thyroid cancer. The goal of this study was to identify diagnostic cytologic features in thyroid fine-needle aspiration (FNA) samples from patients with DICER1 mutation. METHODS: Cytology cases of thyroid FNA from 7 patients with DICER1 mutation were identified. Clinical, imaging, cytomorphologic, and molecular data were analyzed. RESULTS: Cytologic preparations from reviewed cases showed thyroid lesions of follicular derivation with scant colloid, moderate cellularity, uniform follicular cells with round nuclei and inconspicuous nucleoli arranged in small crowded groups and microfollicles. Follicular neoplasm was diagnosed in 4 cases and follicular lesion of undetermined significance in 3 cases, based on the Bethesda System for Reporting Thyroid Cytopathology. Histopathological analysis of thyroid tissue confirmed neoplastic process in 6 out of 7 cases: follicular carcinoma (FC, 3 cases), papillary thyroid carcinoma (2 cases), poorly differentiated thyroid carcinoma (PDTC, 1 case). Genetic studies identified 3 different somatic variants of DICER1 gene, including transcript consequence c.5428G>T, which was detected in FC and PDTC (and has been described previously in multinodular goiter). CONCLUSION: DICER1 mutation in all analyzed patients was identified as a result of thyroid FNA evaluation, emphasizing the critical role of FNA in the screening of patients with thyroid nodules, proper diagnosis of thyroid disease, and monitoring of patients with DICER1 mutation. Cancer

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Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome

Gullo¹,

Batısta

Rodrigues-Pereira³

et al. 2018

American Journal of Clinical Pathology

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Case report of a 3-year-old girl with pleuropulmonary blastoma and family history of a tumor predisposition syndrome with c. 2830 gene mutation in DICER1

Cited by 5 publications

References 15 publications

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

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

Cytomorphologic features of thyroid disease in patients with DICER1 mutations: A report of cytology–histopathology correlation in 7 patients

Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome

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