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Title: Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma

Abstract

This is the first reported case of an unbalanced chromosome rearrangement resulting in trisomy 5q35.5{r_arrow}qter and monosomy 16p 13.3{r_arrow}pter, in a boy with mental and growth retardation, minor anomalies, and a history of bilateral papillary thyroid carcinoma. This was the result of a familial balanced translocation. The clinical and cytogenetic manifestations of the case are presented and the possible role of the chromosomal rearrangement in the etiology of the thyroid carcinoma is discussed. 25 refs., 5 figs., 1 tab.

Authors:
; ; ;  [1]
  1. Univ. of Michigan, Ann Arbor, MI (United States)
Publication Date:
Sponsoring Org.:
USDOE
OSTI Identifier:
96085
Resource Type:
Journal Article
Resource Relation:
Journal Name: American Journal of Medical Genetics; Journal Volume: 49; Journal Issue: 3; Other Information: PBD: 1 Feb 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; THYROID; CARCINOMAS; ETIOLOGY; HUMAN CHROMOSOME 5; CHROMOSOMAL ABERRATIONS; HUMAN CHROMOSOME 16; ANEUPLOIDY; MENTAL DISORDERS

Citation Formats

McDonald, M., Maynard, S., Sheldon, S., and Innis, J. Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma. United States: N. p., 1994. Web. doi:10.1002/ajmg.1320490309.
McDonald, M., Maynard, S., Sheldon, S., & Innis, J. Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma. United States. doi:10.1002/ajmg.1320490309.
McDonald, M., Maynard, S., Sheldon, S., and Innis, J. Tue . "Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma". United States. doi:10.1002/ajmg.1320490309.
@article{osti_96085,
title = {Unbalanced 5;16 translocation in a boy with papillary thyroid carcinoma},
author = {McDonald, M. and Maynard, S. and Sheldon, S. and Innis, J.},
abstractNote = {This is the first reported case of an unbalanced chromosome rearrangement resulting in trisomy 5q35.5{r_arrow}qter and monosomy 16p 13.3{r_arrow}pter, in a boy with mental and growth retardation, minor anomalies, and a history of bilateral papillary thyroid carcinoma. This was the result of a familial balanced translocation. The clinical and cytogenetic manifestations of the case are presented and the possible role of the chromosomal rearrangement in the etiology of the thyroid carcinoma is discussed. 25 refs., 5 figs., 1 tab.},
doi = {10.1002/ajmg.1320490309},
journal = {American Journal of Medical Genetics},
number = 3,
volume = 49,
place = {United States},
year = {Tue Feb 01 00:00:00 EST 1994},
month = {Tue Feb 01 00:00:00 EST 1994}
}
  • Several unusual complications of I-131 therapy for thyroid carcinoma are known. Two patients who developed a further unusual event that consisted of a palpable mass and cystic degeneration are described.
  • We have analyzed the course of papillary thyroid carcinoma in 269 patients managed at the University of Chicago, with an average follow-up period of 12 yr from the time of diagnosis. Patients were categorized by clinical class; I, with intrathyroidal disease; II, with cervical nodal metastases; III, with extrathyroidal invasion; and IV, with distant metastases. Half of the patients had a history of thyroid enlargement known, on the average, for over 3 yr. In 15% of patients given thyroid hormone, the mass decreased in size. The peak incidence of cancer was when subjects were between 20-40 yr of age. Tumorsmore » averaged 2.4 cm in size; 21.6% had tumor capsule invasion, and 46% of patients had multifocal tumors. Sixty-six percent of the patients had near-total or total thyroidectomy. The overall incidence of postoperative hypoparathyroidism was 8.4%, but the incidence was zero in 83 near-total or total thyroidectomies carried out by 1 surgeon. Twenty-five percent of the patients had continuing or recurrent disease, and 8.2% died from cancer. Deaths occurred largely in patients with class III or IV disease. Cervical lymph nodes were associated with increased recurrences, but not increased deaths. Extrathyroidal invasion carried an increased risk of 5.8-fold for death, and distant metastases increased this risk 47-fold. Age over 45 yr at diagnosis increased the risk of death 32-fold. Tumor size over 3 cm increased the risk of death 5.8-fold. Surgical treatment combining lobectomy plus at least contralateral subtotal thyroidectomy was associated, by Cox proportional hazard analysis, with decreased risk of death in patients with tumors larger than 1 cm and decreased risk of recurrence among all patients, including patients in classes I and II, compared to patients who underwent unilateral thyroid surgery or bilateral subtotal resections.« less
  • Between 1947 and 1980, 103 patients with well-differentiated thyroid carcinoma with metastases outside the neck were treated with sodium iodide /sup 131/I after surgical treatment. Forty-one patients had distant metastases first detected an average of 7.44 yr after the initial operation establishing the diagnosis of thyroid carcinoma. Follicular and papillary carcinomas gave the same survival time in patients, matched for age and sex, who had metastases outside the neck. Those considered to be free of their metastatic disease after /sup 131/I therapy survived three times as long as those with persistent disease. Patients freed of their metastases had a highermore » conformity rate with half of our ten procedures of ideal treatment, compared with patients not freed of their metastases.« less