Sage Journals: Discover world-class research

Abstract

We report a rare case of sclerosing pneumocytoma occurring in a child with PTEN mutation. A 13-year-old female presented to the emergency department of an adult hospital following 2 to 3 days of upper respiratory tract infection symptoms. A primary lung lesion was discovered during her initial chest X-ray to rule out pneumonia. The patient underwent an uneventful thoracoscopic right upper lobe segmentectomy. The pathology demonstrated a sclerosing pneumocytoma of the lung. She tested positive for PTEN hamartoma tumor syndrome with a pathogenic variant at c.388 C > T. The PTEN mutation was also identified in the sclerosing pneumocytoma. Further study of PTEN mutation in sclerosing pneumocytoma is warranted.

Keywords

lung microscopy molecular biology molecular oncology pediatric PediPath sclerosing hemangioma tumors

Get full access to this article

View all access options for this article.

References

Baysak

Moğulkoç

Bishop

Ceylan

. A rare tumor of the lung: Pulmonary sclerosing hemangioma (pneumocytoma). Respir Med 2013; 107: 448–450.

Devouassoux-Shisheboran

Hayashi

Linnoila

Koss

Travis

. A clinicopathologic study of 100 cases of pulmonary sclerosing hemangioma with immunohistochemical studies: TTF-1 is expressed in both round and surface cells, suggesting an origin from primitive respiratory epithelium. Am J Surg Pathol 2000; 24(7): 906–916.

Batinica

Gunek

Raos

Jelasić

Bogović

. Sclerosing haemangioma of the lung in a 4-year-old child. Eur J Pediatr Surg 2002; 12(3): 192–194.

Arumugam

Joseph

Thangavel

Swaminathan

Sunderaj

. Sclerosing pneumocytoma of the lung: a case report. J Clin Diagn Res 2017; 11(2): ED12.

Shin

Kim

, et al. Pulmonary sclerosing pneumocytoma of the lung: CT characteristics in a large series of a tertiary referral center. Medicine 2015; 94(4): e498.

Blumenthal

Dennis

. PTEN hamartoma tumor syndromes. Eur J Hum Genet 2008; 16: 1289–1300.

Tutluer

Tanriover

Guven

. Cowden syndrome: a major indication for extensive cancer surveillance. Med Oncol 2012; 29: 1365–1368.

Jung

Kim

Lee

, et al. Whole-exome sequencing identifies recurrent AKT1 mutations in sclerosing hemangioma of lung. Proc Natl Acad Sci USA 2016; 113(38): 10672–10677.

Guerra-Gutiérrez

Sánchez

Gallardo-Madueño

Mariño-Enríquez

Nistralb

. Pulmonary sclerosing hemangioma in a patient with Cowden syndrome. Arch Bronconeumol (English Edition) 2007; 43(7): 418–420.

10.

Gray

Dunlop

Elliott

. Not all next generation sequencing diagnostics are created equal: understanding the nuances of solid tumor assay design for somatic mutation detection. Cancers 2015; 7(3): 1313–1332.

11.

Strom

Rivera

Elzinga

, et al. Development and validation of a next-generation sequencing assay for BRCA1 and BRCA2 variants for the clinical laboratory. PLoS One 2015; 10(8): e0136419.

12.

Dacic

Sasatomi

Swalsky

Kim

Finkelstein

Yousem

. Loss of heterozygosity patterns of sclerosing hemangioma of the lung and bronchioloalveolar carcinoma indicate a similar molecular pathogenesis. Arch Pathol Lab Med 2004; 128(8): 880–884.

13.

Hendriks

Verhallen

Van der Smagt

, et al. Bannayan–Riley–Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. Fam Cancer 2003; 2(2): 79–85.

14.

Zhou

Waite

Pilarski

, et al. Germline PTEN promoter mutations and deletions in Cowden/Bannayan–Riley–Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet 2003; 73(2): 404–411.

15.

Sugio

Yokoyama

Kaneko

Ishida

Sugimachi

. Sclerosing hemangioma of the lung: radiographic and pathological study. Pediatr Radiol 1995; 25(Suppl 1): S207–S208.

Sclerosing Pneumocytoma of the Lungs Arising in a Child With PTEN Mutation

Abstract

Keywords

Get full access to this article

References