Translocation T(12;17)(Q24.1;Q21) as the Sole Anomaly in a Nasal Chondromesenchymal Hamartoma Arising in a Patient with Pleuropulmonary Blastoma

Behery, Radwa El; Bedrnicek, Jiri; Lazenby, Audrey J.; Nelson, Marilu; Grove, Jennifer; Huang, Dali; Smith, Russell B.; Bridge, Julia A.

doi:10.2350/11-11-1121-cr.1

Cited by 16 publications

(7 citation statements)

References 39 publications

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“…None of these reports made reference to DICER1 status. Another report described an 11-year-old boy with a history of PPB at age three years, who presented with nasal obstruction and whose NCMH had a somatic, balanced t(12;17) (q24;q21) translocation (Behery et al 2012). …”

Section: Introductionmentioning

confidence: 99%

Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder

et al. 2014

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Background Nasal chondromesenchymal hamartoma (NCMH) is a rare nasal tumor that typically presents in young children. We previously reported on NCMH occurrence in children with pleuropulmonary blastoma (PPB), a rare pulmonary dysembryonic sarcoma that is the hallmark neoplasm in the PPB-associated DICER1 tumor predisposition disorder. Methods Original pathologic materials from individuals with a PPB, PPB-associated tumor and/or a DICER1 mutation were centrally reviewed by the International PPB Registry. Paraffin-embedded NCMH tumor tissue was available in three cases. Laser-capture microdissection was used to isolate mesenchymal spindle cells and cartilage in one case for Sanger sequencing of DICER1. Results Nine patients (5F/4M) had PPB and NCMH. NCMH was diagnosed at a median age of 10 years (range 6-21years). NCMH developed 4.5 - 13 years after PPB. Presenting NCMH symptoms included chronic sinusitis and nasal congestion. Five patients had bilateral tumors. Local NCMH recurrences required several surgical resections in two patients, but all nine patients were alive at 0 – 16 years of follow-up. Pathogenic germline DICER1 mutations were found in 6/8 NCMH patients tested. In 2 of the patients with germline DICER1 mutations, somatic DICER1 missense mutations were also identified in their NCMH (E1813D; n=2). Three additional PPB patients developed other nasal lesions seen in the general population (a Schneiderian papilloma, chronic sinusitis with cysts, and allergic nasal polyps with eosinophils). Two of these patients had germline DICER1 mutations. Conclusion Pathogenic germline and somatic mutations of DICER1 in NCMH establishes that the genetic etiology of NCMH is similar to PPB, despite the disparate biological potential of these neoplasms.

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Section: Introductionmentioning

confidence: 99%

Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder

et al. 2014

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“…PPB can be classified into three subtypes: type I (low‐grade cystic), type II (intermixed), and type III (high‐grade solid masses) (Priest et al, ; Dishop and Kuruvilla, ). Cytogenetically, trisomies 8 and 2, and the translocation t(12;17)(q24.1;q21) have been reported in PPB (Novak et al, ; Yang et al, ; Dishop and Kuruvilla, ; Behery et al, ) and a heterozygous DICER1 mutation has also been identified in familial PPB (Hill et al, ).…”

Section: Introductionmentioning

confidence: 99%

Identification of novel ALK rearrangement A2M–ALK in a neonate with fetal lung interstitial tumor

Onoda

Miyako

Sato

et al. 2014

Genes Chromosomes & Cancer

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Fetal lung interstitial tumor (FLIT) is a recently reported type of congenital lung lesion comprising solid and cystic components. The pathological features include unique interstitial mesenchyme-based cell proliferation, and differ from other neoplasms represented by pleuropulmonary blastoma or congenital peribronchial myofibroblastic tumor. FLIT is extremely rare and its gene expression profile has not yet been reported. We provide the first report of a novel chromosomal rearrangement resulting in α-2-macroglobulin (A2M) and anaplastic lymphoma kinase (ALK) gene fusion in a patient with FLIT. The tumor cells contained a t(2;12)(p23;p13) and were mesenchymal in origin (e.g., inflammatory myofibroblastic tumors), suggesting the involvement of ALK in this case of FLIT. Break apart fluorescence in situ hybridization demonstrated chromosomal rearrangement at ALK 2p23. Using 5'-rapid amplification of cDNA ends, we further identified a novel transcript fusing exon 22 of A2M to exon 19 of ALK, which was confirmed by reverse-transcription polymerase chain reaction. The corresponding chimeric gene was subsequently confirmed by sequencing, including the genomic break point between intron 22 and 18 of A2M and ALK, respectively. Discovery of A2M as a novel ALK fusion partner, together with the involvement of ALK, provides new insights into the pathogenesis of FLIT, and suggests the potential for new therapeutic strategies based on ALK inhibitors.

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“…However, as there is no clear pathogenesis described, it is difficult to define whether NCMH is a primary or secondary event to chronic inflammatory process. Moreover, recent cytogenetic research [ 11 ] has discovered that lesion arises in association with Carney I complex and may possibly harbor PRKAR1A loss, coding 1-alpha regulatory protein kinase A subunit. Balanced-appearing translocation t(12;17)(q24.1;q21) was identified as the sole clonal karyotypic anomaly in a case of NCMH arising in an 11-year-old boy.…”

Section: Discussionmentioning

confidence: 99%

Nasal Chondromesenchymal Hamartoma with Skull Base and Orbital Involvement: Case Presentation

Gol'bin¹,

Ektova²,

Demin³

et al. 2018

Cureus

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Nasal chondromesenchymal hamartoma (NCMH) is a rare benign tumor of the sinonasal tract in children with possible orbit and skull base involvement. We present the 57th published observation of this kind of tumor. A 25-month-old female patient presented with recurrent mass lesion of the sinonasal tract. According to her history, she had feeding difficulties and nasal obstruction since birth. She underwent partial resection at eight months of age via transfacial approach in the local hospital. Due to progression of tumor remnants, a second surgery was performed using an endoscopic endonasal approach resulting in subtotal resection. At 12 months of follow-up, a good postoperative result was observed with no signs of tumor progression despite incomplete resection. Histological and immunohistochemical examination of the biopsy specimens is presented. Comparison of specimens obtained from each of the two surgeries showed a difference in histological patterns. Endoscopic endonasal approach is the mainstay of surgical management. In case of incomplete resection, careful follow-up MRI studies should be recommended.

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Translocation T(12;17)(Q24.1;Q21) as the Sole Anomaly in a Nasal Chondromesenchymal Hamartoma Arising in a Patient with Pleuropulmonary Blastoma

Cited by 16 publications

References 39 publications

Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder

Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder

Identification of novel ALK rearrangement A2M–ALK in a neonate with fetal lung interstitial tumor

Nasal Chondromesenchymal Hamartoma with Skull Base and Orbital Involvement: Case Presentation

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