scholarly journals DICER1-Mutated Botryoid Fibroepithelial Polyp of the Parotid Duct: Report of the First Case

2021 ◽  
Author(s):  
Ramona Erber ◽  
Raimund Preidl ◽  
Robert Stoehr ◽  
Florian Haller ◽  
Arndt Hartmann ◽  
...  
Keyword(s):  
Gene Expression Regulation ◽  
Differentiated Thyroid Carcinoma ◽  
Pleuropulmonary Blastoma ◽  
Malignant Neoplasms ◽  
Cystic Nephroma ◽  
Fibroepithelial Polyp ◽  
Ribonuclease Iii ◽  
First Case ◽  
Parotid Duct ◽  
Dicer1 Syndrome

AbstractDICER1, a member of the ribonuclease III family, is involved in the biogenesis of microRNAs and, hence, it influences gene expression regulation. DICER1 germline (associated with the inherited DICER1 syndrome) or somatic mutations have been linked to tumorigenesis in histogenetically diverse benign and malignant neoplasms in different organs including pleuropulmonary blastoma, cystic nephroma, embryonal rhabdomyosarcoma, nasal chondromesenchymal hamartoma, poorly differentiated thyroid carcinoma, thyroblastoma, intracranial sarcoma and gonadal Sertoli-Leydig cell tumors in addition to others. Moreover, rare botryoid (giant) fibroepithelial polyps may harbor this mutation. Herein, we describe the first reported case of a DICER1-mutated botryoid fibroepithelial polyp occurring within the parotid duct of a 65-year-old female who has no other features or family history of the DICER1 syndrome. Based on its distinctive morphology, we tested this lesion specifically for DICER1 mutations and confirmed the presence of a pathogenic DICER1 variant with a low allele frequency, consistent with a somatic mutation.

Primary Biphasic Hepatic Sarcoma in DICER1 Syndrome

2021 ◽  
pp. 109352662110084
Author(s):  
Sharlene C See ◽  
Nitin R Wadhwani ◽  
Kai Lee Yap ◽  
Nicoleta C Arva
Keyword(s):  
Thyroid Nodules ◽  
Wilms Tumor ◽  
Single Case ◽  
Genetic Disorder ◽  
Pleuropulmonary Blastoma ◽  
Malignant Neoplasms ◽  
Low Grade ◽  
Cystic Nephroma ◽  
Dicer1 Syndrome ◽  
Second Tumor

DICER1 tumor predisposition syndrome is a rare genetic disorder that predisposes individuals to multiple benign and malignant neoplasms. The phenotype is vast and includes pleuropulmonary blastoma (PPB), thyroid nodules, cystic nephroma, Wilms tumor, ovarian Sertoli–Leydig cell tumor, and medulloepithelioma, among others. Herein, we describe a patient with a DICER1 germline pathogenic variant presenting with two neoplasms that are not commonly encountered in the context of DICER1 syndrome. The first tumor is a multiloculated cystic hepatic lesion with a biphasic pattern, composed of cysts lined by bland biliary type (CK19-positive) epithelium surrounded by a condensation of sarcomatous spindled cell proliferation in a myxoid stroma. This neoplasm resembled PPB or cystic nephroma with malignant transformation. The second tumor is a chest nodule consistent with low-grade hidradenocarcinoma. Although it is difficult to speculate with just a single case, these unusual neoplasms occurring in particular at a young age raises the possibility that they can be inherent to, and thus, be part of the DICER1 tumor predisposition syndrome phenotype.

scholarly journals Identification of somatic and germ-line DICER1 mutations in pleuropulmonary blastoma, cystic nephroma and rhabdomyosarcoma tumors within a DICER1 syndrome pedigree

BMC Cancer ◽  
2017 ◽  
Vol 17 (1) ◽  
Author(s):  
Lorena Fernández-Martínez ◽  
José Antonio Villegas ◽  
Íñigo Santamaría ◽  
Ana S. Pitiot ◽  
Marta G. Alvarado ◽  
...  
Keyword(s):  
Germ Line ◽  
Pleuropulmonary Blastoma ◽  
Cystic Nephroma ◽  
Dicer1 Syndrome

scholarly journals Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1

2019 ◽  
Vol 37 (8) ◽  
pp. 668-676 ◽  
Author(s):  
Douglas R. Stewart ◽  
Ana F. Best ◽  
Gretchen M. Williams ◽  
Laura A. Harney ◽  
Ann G. Carr ◽  
...  
Keyword(s):  
Cancer Incidence ◽  
Cumulative Incidence ◽  
Malignant Tumors ◽  
Pleuropulmonary Blastoma ◽  
Benign Tumors ◽  
Cystic Nephroma ◽  
Kaplan Meier ◽  
Pathogenic Variation ◽  
Dicer1 Syndrome ◽  
Pathology Reports

Purpose DICER1 syndrome is an autosomal-dominant, pleiotropic tumor-predisposition disorder caused by pathogenic germline variants in DICER1. We sought to quantify risk, hazard rates, and the probability of neoplasm incidence accounting for competing risks (“cumulative incidence”) of neoplasms (benign and malignant) and standardized incidence ratios for malignant tumors in individuals with DICER1 pathogenic variation. Patients and Methods We combined data from three large cohorts of patients who carry germline pathogenic variation in DICER1. To reduce ascertainment bias, we distinguished probands from nonprobands. Neoplasm diagnoses were confirmed by review of pathology reports and/or central review of surgical pathology materials. Standardized cancer incidence ratios were determined relative to the SEER program, which does not capture all DICER1-associated neoplasms. For all malignancies and benign tumors (“neoplasms,” excluding type Ir pleuropulmonary blastoma and thyroid nodules), we used the Kaplan-Meier method and nonparametric cumulative incidence curves to estimate neoplasm-free survival. Results We calculated the age at first neoplasm diagnosis (systematically ascertained cancers plus DICER1-associated neoplasms pleuropulmonary blastoma, cystic nephroma, and nasal chondromesenchymal hamartoma) in 102 female and male nonproband DICER1 carriers. By age 10 years, 5.3% (95% CI, 0.6% to 9.7%) of nonproband DICER1 carriers had developed a neoplasm (females, 4.0%; males, 6.6%). By age 50 years, 19.3% (95% CI, 8.4% to 29.0%) of nonprobands had developed a neoplasm (females, 26.5%; males, 10.2%). After age 10 years, female risk was elevated compared with male risk. Standardized cancer incidence ratio analysis of 102 nonproband DICER1 carriers, which represented 3,344 person-years of observation, showed significant cancer excesses overall, particularly of gynecologic and thyroid cancers. Conclusion This work provides the first quantitative analysis of site-specific neoplasm risk and excess malignancy risk in 102 systematically characterized nonproband DICER1 carriers. Our findings inform DICER1 syndrome phenotype, natural history, and genetic counseling.

scholarly journals MON-093 Pleuropulmonary Blastoma and Multinodular Goiter in a 22 Yr Old Male with DICER1 Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Ugen Lhamu ◽  
Chanika Phornphutkul ◽  
Lauren Massingham ◽  
Jose Bernardo Quintos
Keyword(s):  
Lung Cancer ◽  
Growth Hormone ◽  
Multinodular Goiter ◽  
Pathogenic Variant ◽  
Pleuropulmonary Blastoma ◽  
Benign Tumors ◽  
Cystic Nephroma ◽  
Lower Pole ◽  
History Of ◽  
Dicer1 Syndrome

Abstract Background DICER1 syndrome is an autosomal dominant condition due to mutations in the DICER1 gene, located on chromosome 14q32.13. Patients are at increased risk for malignant and benign tumors, including pleuropulmonary blastoma (PPB), cystic nephroma, ovarian Sertoli-Leydig cell tumors, multinodular goiter (MNG) and differentiated thyroid cancer (DTC). MNG is very common in patients with DICER1 Syndrome but data on incidence is lacking. MNG is more common in females than males. Case presentation: 22 year old man who originally presented with pleuropulmonary blastoma, Type 3 at 3 years of age. His treatment included pulmonectomy, radiation of 46.6 Gy to thorax, and alkylating agents including Cisplatin, Ifosphamide and Cytoxan. He developed frontal lobe metastasis over the course of 3 years and was treated with focal cranial radiation. His father and maternal uncle had history of lung cancer. He was evaluated at the Endocrine clinic at 12 years 10 months for short stature. His height was 132.5 cm (SDS -2.96), weight 29.7 kg (SDS -2.40), and BMI 16.99kg/m² (SDS -0.61). On examination he had normal thyroid exam and Tanner 2 bilateral 4 cc testicles. He was treated with Levothyroxine for subclinical hypothyroidism (TSH: 5.96 uIU/ml (0.35–5.5) and Free T 4: 0.99 ng/dl (0.8–1.80) and growth hormone (GH) for growth hormone deficiency (peak GH was 7.7 ng/ml after Arginine and Clonidine GH stimulation test). At 14 years 10 month he developed respiratory distress. CT scan of chest showed right lower pole nodule 1.6 x 1.5 x 1.4 cm. Ultrasound of thyroid showed right thyroid solid mid pole isoechoic nodule 1.4 x 1.7 x 1.3 cm with multiple enlarged bilateral cervical nodes, largest left supraclavicular region > 1 cm. Biopsy of the right nodule was negative for malignancy. Over the course of 2 years he developed new right thyroid isoechoic nodule in the lower pole 2.1 x 2.5 x 1.9 cm and new left thyroid isoechoic nodule in the upper pole 1.0 x 0.5 x 0.5 cm. Biopsy was negative for malignancy. Due to his PPB, MNG and family history of lung cancer he was evaluated at our genetic cancer clinic and tested positive for germline DICER1 pathogenic variant c.4605_4606del (p.Cys1535Trpfs*3) Conclusion: Our 22 year old male presented with pleuropulmonary blastoma and over the course of few years developed MNG. Genetic testing was positive for germline DICER1 pathogenic variant c.4605_4606del (p.Cys1535Trpfs*3). Our case illustrates the importance of consideration of: 1) Testing children with PPB for DICER1 Syndrome as there are screening recommendations including regular thyroid ultrasound and examinations to look for MNG or other features concerning for thyroid gland neoplasia. 2) MNG is uncommon in children and detection of this should raise suspicion for consideration of testing for DICER1 Syndrome.

scholarly journals DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk

2021 ◽  
Vol 10 ◽  
Author(s):  
Anna Maria Caroleo ◽  
Maria Antonietta De Ioris ◽  
Luigi Boccuto ◽  
Iside Alessi ◽  
Giada Del Baldo ◽  
...  
Keyword(s):  
Thyroid Neoplasms ◽  
Pleuropulmonary Blastoma ◽  
Type I ◽  
Cystic Nephroma ◽  
Genetic Condition ◽  
Pediatric Tumor ◽  
Common Life ◽  
Life Threatening ◽  
Dicer1 Syndrome

DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the DICER1 gene. The risk to present a neoplasm before the age of 10 years is 5.3 and 31.5% before the age of 60. DICER1 variants have been associated with a syndrome involving familial pleuropulmonary blastoma (PPB), a rare malignant tumor of the lung, which occurs primarily in children under the age of 6 years and represents the most common life-threatening manifestation of DICER1 syndrome. Type I, II, III, and Ir (type I regressed) PPB are reported with a 5-year overall survival ranging from 53 to 100% (for type Ir). DICER1 gene should be screened in all patients with PPB and considered in other tumors mainly in thyroid neoplasms (multinodular goiter, thyroid cancer, adenomas), ovarian tumors (Sertoli-Leydig cell tumor, sarcoma, and gynandroblastoma), and cystic nephroma. A prompt identification of this syndrome is necessary to plan a correct follow-up and screening during lifetime.

scholarly journals DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma

2021 ◽  
Author(s):  
Iván A. González ◽  
Douglas R. Stewart ◽  
Kris Ann P. Schultz ◽  
Amanda P. Field ◽  
D. Ashley Hill ◽  
...  
Keyword(s):  
Germline Mutation ◽  
Lung Neoplasm ◽  
Differentiated Thyroid Carcinoma ◽  
Pleuropulmonary Blastoma ◽  
Type I ◽  
Cerebellar Tumor ◽  
Cystic Nephroma ◽  
Cystic Neoplasms ◽  
Initial Report ◽  
Familial Tumor

AbstractDICER1 syndrome (OMIM 606241, 601200) is a rare autosomal dominant familial tumor predisposition disorder with a heterozygous DICER1 germline mutation. The most common tumor seen clinically is the pleuropulmonary blastoma (PPB), a lung neoplasm of early childhood which is classified on its morphologic features into four types (IR, I, II and III) with tumor progression over time within the first 4–5 years of life from the prognostically favorable cystic type I to the unfavorable solid type III. Following the initial report of PPB, its association with other cystic neoplasms was demonstrated in family studies. The detection of the germline mutation in DICER1 provided the opportunity to identify and continue to recognize a number seemingly unrelated extrapulmonary neoplasms: Sertoli-Leydig cell tumor, gynandroblastoma, embryonal rhabdomyosarcomas of the cervix and other sites, multinodular goiter, differentiated and poorly differentiated thyroid carcinoma, cervical-thyroid teratoma, cystic nephroma-anaplastic sarcoma of kidney, nasal chondromesenchymal hamartoma, intestinal juvenile-like hamartomatous polyp, ciliary body medulloepithelioma, pituitary blastoma, pineoblastoma, primary central nervous system sarcoma, embryonal tumor with multilayered rosettes-like cerebellar tumor, PPB-like peritoneal sarcoma, DICER1-associated presacral malignant teratoid neoplasm and other non-neoplastic associations. Each of these neoplasms is characterized by a second somatic mutation in DICER1. In this review, we have summarized the salient clinicopathologic aspects of these tumors whose histopathologic features have several overlapping morphologic attributes particularly the primitive mesenchyme often with rhabdomyoblastic and chondroid differentiation and an uncommitted spindle cell pattern. Several of these tumors have an initial cystic stage from which there is progression to a high grade, complex patterned neoplasm. These pathologic findings in the appropriate clinical setting should serve to alert the pathologist to the possibility of a DICER1-associated neoplasm and initiate appropriate testing on the neoplasm and to alert the clinician about the concern for a DICER1 mutation.

scholarly journals Synchronous intrathyroidal parathyroid carcinoma and thyroid carcinoma: case report and review of the literature

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nadia De Falco ◽  
Giuseppe Santangelo ◽  
Fabrizio Chirico ◽  
Angelo Cangiano ◽  
Maria Giulia Sommella ◽  
...  
Keyword(s):  
Literature Review ◽  
Thyroid Carcinoma ◽  
Papillary Carcinoma ◽  
Parathyroid Carcinoma ◽  
Malignant Tumors ◽  
Gamma Probe ◽  
Differentiated Thyroid Carcinoma ◽  
Thyroid Carcinomas ◽  
First Case ◽  
Well Differentiated

Abstract Background Parathyroid carcinoma is a rare endocrine malignancy, rarer when synchronous with a non medullary well differentiated thyroid carcinoma. Parathyroid carcinoma accounts of 0.005% of all malignant tumors and it is responsible for less than 1% of primary hyperparathyroidism. The intrathyroidal localization of a parathyroid gland is not frequent with a reported prevalence of 0.2%. Carcinoma of parathyroids with intrathyroidal localization represents an even rarer finding, reported in only 16 cases described in literature. The rare constellation of synchronous parathyroid and thyroid carcinomas has prompted us to report our experience and perform literature review. Case presentation We herein report a case of a 63-years-old man with multinodular goiter and biochemical diagnosis of hyperparathyroidism. Total thyroidectomy with radio-guide technique using gamma probe after intraoperative sesta-MIBI administration and intraoperative PTH level was performed. The high radiation levels in the posterior thyroid lobe discovered an intrathyroidal parathyroid. Microscopic examination revealed a parathyroid main cell carcinoma at the posterior thyroidal left basal lobe, a classic papillary carcinoma at the same lobe and follicular variant of papillary carcinoma at the thyroidal right lobe. To the best of our knowledge, this is the first case documenting a synchronous multicentric non medullary thyroid carcinomas and intrathyroidal parathyroid carcinoma. Conclusions Our experience was reported and literature review underlining challenging difficulties in diagnostic workup and surgical management was carried out.

scholarly journals Primitive neuroectodermal tumor of the esophagus with metastasis in the pineal gland

2019 ◽  
Vol 07 (09) ◽  
pp. E1163-E1165
Author(s):  
Leonardo Blas Jhon ◽  
Paloma Sánchez-Fayos ◽  
Maria Jesus Martín Relloso ◽  
Daniel Calero Barón ◽  
Juan Carlos Porres Cubero
Keyword(s):  
Case Report ◽  
Pineal Gland ◽  
Disease Progression ◽  
Rare Case ◽  
Primitive Neuroectodermal Tumor ◽  
Malignant Neoplasms ◽  
Primitive Neuroectodermal Tumors ◽  
First Case ◽  
Neuroectodermal Tumors ◽  
Chemotherapeutic Treatment

AbstractPrimitive neuroectodermal tumors (PNET) are very rare tumors that belong to a family of malignant neoplasms of tiny round cells which are derived from the neural crest. This report discusses a rare case of an adult woman with esophageal PNET, confirmed by immunohistochemistry, that presented with metastasis to the pineal gland. To our knowledge, this is the first case report of a PNET with these features. Despite surgery and chemotherapeutic treatment, our case has shown disease progression.

CUBITAL TUNNEL SYNDROME DUE TO GIANT CELL TUMOUR OF TENDON SHEATHS

Hand Surgery ◽  
2006 ◽  
Vol 11 (01n02) ◽  
pp. 89-91 ◽  
Author(s):  
G. Mitsionis ◽  
E. E. Pakos ◽  
I. Gavriilidis ◽  
Anna Batistatou
Keyword(s):  
Giant Cell ◽  
Giant Cell Tumour ◽  
Present Report ◽  
Cubital Tunnel Syndrome ◽  
Cell Tumour ◽  
Cubital Tunnel ◽  
Malignant Neoplasms ◽  
Entrapment Neuropathies ◽  
First Case ◽  
Tunnel Syndrome

Cubital tunnel syndrome is one of the most common entrapment neuropathies in adults. It is mainly caused by the depression of ulnar nerve from normal structures at the elbow area. Despite the fact that several pathgological entities can be potential mechanisms of the syndrome, the pathogenesis due to benign or malignant neoplasms is extremely rare. In the present report we describe the first case of cubital tunnel syndrome due to giant cell tumour of the tendon sheaths.

Clinical heterogeneity and reduced penetrance in DICER1 syndrome: a report of three families

2021 ◽  
pp. 030089162110587
Author(s):  
Jacopo Azzollini ◽  
Andrea Ferrari ◽  
Alessandra Stracuzzi ◽  
Stefano Chiaravalli ◽  
Monica Terenziani ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Leydig Cell ◽  
Thyroid Nodules ◽  
Leydig Cell Tumor ◽  
Cell Tumor ◽  
Pleuropulmonary Blastoma ◽  
Novel Variant ◽  
Tubular Gland ◽  
Reduced Penetrance ◽  
Dicer1 Syndrome

Introduction: DICER1 syndrome is characterized by increased susceptibility to malignancies, mostly occurring in childhood. The range of phenotypic effects of DICER1 variants is under investigation, and the syndrome’s phenotypic spectrum is steadily widening. We report on three Italian families showing heterogeneous clinical presentation and reduced penetrance in family members. Case descriptions: Patient 1 is a 10-year-old girl with a Sertoli-Leydig cell tumor. Although family history was unremarkable, genetic testing identified a DICER1 germline variant, inherited from her healthy father. Benign thyroid nodules were subsequently diagnosed in both the proband and her father. Patient 2 is an 8-month-old boy with type 1 pleuropulmonary blastoma. His sister developed a nephroblastoma at age 2 years. A DICER1 novel variant was identified in both siblings and their healthy father. Patient 3 is a 22-year-old man who developed a spinal extramedullary intradural mass diagnosed as rhabdomyosarcoma with a peculiar tubular, gland-like component. Tumor testing revealed two pathogenic DICER1 variants, one of which was confirmed to be germline and identified in his 17-year-old healthy brother and in his father, who showed multiple thyroid nodules. Conclusions: Among our patients, three developed tumors most frequently associated with DICER1 syndrome (i.e. pleuropulmonary blastoma, nephroblastoma, and Sertoli-Leydig cell tumor). One developed a peculiar sarcoma of the spinal cord not previously described in DICER1 syndrome. Genetic testing in relatives highlighted the paternal origin and reduced penetrance in all families, with thyroid benign lesions as the most common features in otherwise unaffected individuals.

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