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Old Dog With New Tricks: 99mtc-Sestamibi Spect-Ct For Renal Mass Differentiation, Zachary Beswick, Ishani Dalal May 2019

Old Dog With New Tricks: 99mtc-Sestamibi Spect-Ct For Renal Mass Differentiation, Zachary Beswick, Ishani Dalal

Teaching and Education

Small renal masses have historically presented a diagnostic challenge for radiologists and urologists. MRI and CT have a limited capability to differentiate benign and malignant small solid renal masses. The relatively poor negative predictive value of renal biopsy limits the ability to avoid surgical resection in small renal masses with negative biopsy. 99mTc-sestamibi SPECT-CT can be an important tool in directing the management of patients with renal masses.We present the analysis of 99mTc-sestamibi uptake patterns in patients with small renal masses who underwent further characterization of these masses with 99mTc-sestamibi SPECT-CT. Pertinent interpretation points in differentiating renal cell carcinoma ...


Multiple Endocrine Neoplasia Type 2b: Eighteen-Year Follow-Up Of A Four-Generation Family, Glen W. Sizemore, J. Aiden Carney, Hossein Gharib, Charles C. Capen Sep 1992

Multiple Endocrine Neoplasia Type 2b: Eighteen-Year Follow-Up Of A Four-Generation Family, Glen W. Sizemore, J. Aiden Carney, Hossein Gharib, Charles C. Capen

Henry Ford Hospital Medical Journal

Seven members with multiple endocrine neoplasia type 2B from a 15-member family have been followed for 18 years. All affected had the neuroma phenotype in a distribution compatible with autosomal dominant inheritance. The phenotype features have allowed 100% initial and continuing prediction of affected versus nonaffected status in as early as 1.5 years. Among the affected: immunoreactive plasma calcitonin (iCT) concentration was high in 100%; thyroid palpation was false-negative in 71%; and thyroid scintiscan was false-negative in 83%. All had total thyroidectomy, plus lymphadenectomy in three, for bilateral medullary thyroid carcinoma (MTC) or C-cell hyperplasia (in the youngest). None ...


Extracellular Ca2+ Sensing In C-Cells And Parathyroid Cells, Hans Scherubl, Maria Luisa Brandi, Jurgen Hescheler Sep 1992

Extracellular Ca2+ Sensing In C-Cells And Parathyroid Cells, Hans Scherubl, Maria Luisa Brandi, Jurgen Hescheler

Henry Ford Hospital Medical Journal

An essential function of C-cells and parathyroid cells is to monitor the extracellular Ca2+ concentration. The Ca2+-dependent secretion of calcitonin (CT) and parathyroid hormone is known to be mediated by corresponding changes in the intracellular Ca2+ concentration. To address the question of whether Ca2+ influx through voltage-dependent Ca2+ channels couples the extracellular to the intracellular Ca2+, we applied the patch clamp technique to C-cells of the rMTC 44-2 cell line and to parathyroid cells of the PT-r cell line. The rMTC cells displayed dihydropyridine-sensitive, voltage-dependent, high-threshold Ca2+ channels which allowed ion influx ...


Long-Term Follow-Up In Four Large Men 2 Families In The Netherlands, C. J. M. Lips, M. J. H. Berends, J. Brouwers-Smalbraak, R. A. Geerdink, W. H. L. Hackeng, J. M. Jansen-Schillhorn Van Veen, A. Struyvenberg, Th. J. M. V. Van Vroonhoven Sep 1992

Long-Term Follow-Up In Four Large Men 2 Families In The Netherlands, C. J. M. Lips, M. J. H. Berends, J. Brouwers-Smalbraak, R. A. Geerdink, W. H. L. Hackeng, J. M. Jansen-Schillhorn Van Veen, A. Struyvenberg, Th. J. M. V. Van Vroonhoven

Henry Ford Hospital Medical Journal

Results of follow-up studies in four large multiple endocrine neoplasia type 2A families (total of 95 patients affected) have shown a positive effect on the course of the disease since early screening and intervention were initiated in 1974.


Screening For Multiple Endocrine Neoplasia Type 2a With Dna-Polymorphism Analysis, Estelle M.-F. Lamothe, Steven A. Narod, Shari Miller, Paul J. Goodfellow, David E. C. Cole, Dawna Gilchrist, Zdenka Pausova, David Goltzman, Geoffrey N. Hendy Sep 1992

Screening For Multiple Endocrine Neoplasia Type 2a With Dna-Polymorphism Analysis, Estelle M.-F. Lamothe, Steven A. Narod, Shari Miller, Paul J. Goodfellow, David E. C. Cole, Dawna Gilchrist, Zdenka Pausova, David Goltzman, Geoffrey N. Hendy

Henry Ford Hospital Medical Journal

Nine chromosome 10 DNA markers (FNRB, D10S34, D10Z1, MEN203, D10S94, RBP3, D10S15, MBP [48.11], D10S22) were typed in two large Canadian pedigrees with multiple endocrine neoplasia type 2A (MEN 2A). These markers and the gene for MEN 2A (MEN2A) are believed to be in one linkage group spanning approximately 15 cM (male). MEN203 and D10S94 were informative and tightly linked to MEN2A with no recombinants observed in 26 meiotic events. D10S15 (MCK2), widely used in DNA genotyping predictions, demonstrated two recombinants in these two families. The use of multiple flanking markers increases both the likelihood of informativeness and the ...


Microsurgical Lymph Node Dissection For Metastatic Asymptomatic C-Cell Carcinoma, Heinz J. Buhr, Friedrich Kallinowski, Friedhelm Raue, Christian Herfarth Sep 1992

Microsurgical Lymph Node Dissection For Metastatic Asymptomatic C-Cell Carcinoma, Heinz J. Buhr, Friedrich Kallinowski, Friedhelm Raue, Christian Herfarth

Henry Ford Hospital Medical Journal

In persistent, clinically inapparent medullary thyroid carcinoma, microsurgical dissection of all lymph node compartments of the neck was performed. Between August 1988 and September 1991, 28 cases (mean age 43.3 years) were treated with 38 surgical interventions. Twenty patients had the sporadic form and eight patients the familial form. Unilateral neck dissection resulted in normalization of serum calcitonin (CT) levels even after pentagastrin stimulation in two patients whereas 16 patients exhibited abnormal CT stimulation tests. Eight of ten patients who had bilateral neck dissections had positive pentagastrin test results after surgery. The main postoperative complications included loss of local ...


Should Patients With Medullary Thyroid Carcinoma Undergo Extensive Lymph Node (Re)Operation To Improve Long-Term Survival?, Caro Brumsen, Harm R. Haak, Bernard M. Goslings, Cornelis J. H. Van De Velde Sep 1992

Should Patients With Medullary Thyroid Carcinoma Undergo Extensive Lymph Node (Re)Operation To Improve Long-Term Survival?, Caro Brumsen, Harm R. Haak, Bernard M. Goslings, Cornelis J. H. Van De Velde

Henry Ford Hospital Medical Journal

To investigate the role of primary and/or secondary modified radical neck dissection (MRND) in patients with medullary thyroid carcinoma (MTC), follow-up data on 43 patients operated on between 1972 and 1983 were analyzed retrospectively; patients included 16 with sporadic MTC (group 1) and 27 with multiple endocrine neoplasia type 2 (group 2). Primary surgical therapy consisted of (near-) total thyroidectomy and limited lymph node dissection: one patient in group 1 and two in group 2 underwent primary MRND. Positive nodes were found in nine patients of group 1 and in 12 of group 2. Calcitonin (CT) was raised postoperatively ...


Evaluation Of Children With Medullary Thyroid Carcinoma, Alfonso Libroia, Fabrizio Muratori, Uberta Verga, Gianleone Di Sacco, Anna Grattieri, Dario Gelli Sep 1992

Evaluation Of Children With Medullary Thyroid Carcinoma, Alfonso Libroia, Fabrizio Muratori, Uberta Verga, Gianleone Di Sacco, Anna Grattieri, Dario Gelli

Henry Ford Hospital Medical Journal

Early diagnosis and surgical treatment of medullary thyroid carcinoma (MTC) in children is essential to decrease the likelihood of metastatic spread. From 1981 to 1991, eight children under 18 years of age (five girls and three boys) with MTC were seen and seven underwent total thyroidectomy. Followup ranged from 14 months to 10 years after surgery. Four of the seven presented with a neck mass and elevated basal levels of calcitonin (CT). After surgery, three had recurrent disease. In the other three, the diagnosis was made after several years of screening (normal basal values of CT but increased CT levels ...


Prad1 (Cyclin D1): A Parathyroid Neoplasia Gene On 11q13, Andrew Arnold, Toru Motokura, Theodora Bloom, Carol Rosenberg, Allen Bale, Henry Kronenberg, Joan Ruderman, Milton Brown, Hyung Goo Kim Sep 1992

Prad1 (Cyclin D1): A Parathyroid Neoplasia Gene On 11q13, Andrew Arnold, Toru Motokura, Theodora Bloom, Carol Rosenberg, Allen Bale, Henry Kronenberg, Joan Ruderman, Milton Brown, Hyung Goo Kim

Henry Ford Hospital Medical Journal

Hyperparathyroidism is a central component of multiple endocrine neoplasia type 1 (MEN 1), and both sporadic and familial forms of parathyroid disease may share certain pathogenetic features. We recently identified a gene that is clonally rearranged with the PTH locus in a subset of sporadic parathyroid adenomas. This candidate oncogene, PRAD1 (previously D11S287), appears to contribute to parathyroid tumorigenesis in a fashion analogous to activation of C-MYC or BCL-2 by rearrangement with tissue-specific enhancers of the immunoglobulin genes in B-lymphoid neoplasia. The PRAD1 gene maps to 11q13 and has been linked to the BCL-1 breakpoint locus, although not to the ...


Unusual Features Of Multiple Endocrine Neoplasia, Andrea Frilling, Heinz Becker, Hans-Dietrich Roeher Sep 1992

Unusual Features Of Multiple Endocrine Neoplasia, Andrea Frilling, Heinz Becker, Hans-Dietrich Roeher

Henry Ford Hospital Medical Journal

In addition to the common presentations of the multiple endocrine neoplasia (MEN) syndromes, unusual organ involvement as rare manifestations of a single disease may occur. Among our patients we have identified four cases in which unusual features of MEN were present. In the first patient, bilateral adrenal cortical adenoma, parathyroid adenoma, multiple pancreatic tumors, and follicular thyroid carcinoma were observed. The second patient suffered from thymic carcinoid, parathyroid hyperplasia, gastrinoma, and pituitary adenoma. Additionally, one family was discovered in which medullary thyroid carcinoma (MTC), Hirschsprung's disease, and pheochromocytoma occurred and another family had MTC and ovarian cancer. Based on ...


Frequency And Significance Of Cervicomediastinal Lymph Node Metastases In Medullary Thyroid Carcinoma: Results Of A Compartment-Oriented Microdissection Method, Henning Dralle, Iris Damme, Georg Friedrich Wilhelm Scheumann, Jorg Kotzerke, Eckhart Kupsch Sep 1992

Frequency And Significance Of Cervicomediastinal Lymph Node Metastases In Medullary Thyroid Carcinoma: Results Of A Compartment-Oriented Microdissection Method, Henning Dralle, Iris Damme, Georg Friedrich Wilhelm Scheumann, Jorg Kotzerke, Eckhart Kupsch

Henry Ford Hospital Medical Journal

The frequency and significance of cervicomediastinal lymph node metastases have been investigated in 82 medullary thyroid carcinoma (MTC) patients retrospectively comparing two surgical techniques of lymph node dissection: selective lymphadenectomy (n = 63) versus compartment-oriented microdissection (n = 35). No positive correlation was observed between primary tumor size and the number of lymph node metastases. Inpatients with lymph node metastases proven histologically, 42% showed only cervical involvement (35% unilateral—type A, 7% bilateral—type B, and 22% cervicomediastinal lymph node involvement (15% cervico-unilateral and mediastinal—type C, 7% cervicobilateral and mediastinal—type D). Biochemical cure was 83% in node-negative patients but only ...


Pheochromocytoma: A Frequent Indicator For Men 2, Claude Calmettes, Myriam Rosenberg-Gourgin, Jean Caron, Nicole Feingold Sep 1992

Pheochromocytoma: A Frequent Indicator For Men 2, Claude Calmettes, Myriam Rosenberg-Gourgin, Jean Caron, Nicole Feingold

Henry Ford Hospital Medical Journal

Pheochromocytoma is a frequent indicator of multiple endocrine neoplasia type 2A (MEN 2A); in the 35 French MEN 2A families in which a pheochromocytoma occurred first in some affected members, 30% of the patients had a pheochromocytoma as the first manifestation constituting 45% of all patients with pheochromocytomas. The finding of a pheochromocytoma is a strong indication for a search for medullary thyroid carcinoma and for initiating family screening.


Surgical Approach Of Synchronous Medullary Thyroid Carcinoma And Pheochromocytoma In Men 2 Syndrome, Georg F. W. Scheumann, Henning Dralle Sep 1992

Surgical Approach Of Synchronous Medullary Thyroid Carcinoma And Pheochromocytoma In Men 2 Syndrome, Georg F. W. Scheumann, Henning Dralle

Henry Ford Hospital Medical Journal

In cases with concurrent medullary thyroid carcinoma (MTC) and pheochromocytoma, discussion regarding a one-stage versus two-stage treatment strategy approach remains open. From 1975 to 1990, 11 of 25 multiple endocrine neoplasia type 2 (MEN 2) patients presented with biendocrinopathies or triendocrinopathies synchronously. All patients were treated surgically and followed subsequently in our hospital. Of the group of nine patients with concurrent MTC and pheochromocytoma, five were treated in one-stage and four in two-stage procedures. No patient had major complications intraoperatively. For the two-stage group, the total hospital stay (preoperatively and postoperatively) averaged 35 days. For the one-stage group, the total ...


Front Matter Sep 1992

Front Matter

Henry Ford Hospital Medical Journal

No abstract provided.


Proceedings Of The Fourth International Workshop On Multiple Endocrine Neoplasia: Introduction, Robert F. Gagel, Charles E. Jackson Sep 1992

Proceedings Of The Fourth International Workshop On Multiple Endocrine Neoplasia: Introduction, Robert F. Gagel, Charles E. Jackson

Henry Ford Hospital Medical Journal

No abstract provided.


Sublocalization Of The Multiple Endocrine Neoplasia Type 1 Gene, Catharina Larsson, Gunther Weber, Marie Janson Sep 1992

Sublocalization Of The Multiple Endocrine Neoplasia Type 1 Gene, Catharina Larsson, Gunther Weber, Marie Janson

Henry Ford Hospital Medical Journal

Tumorigenesis in multiple endocrine neoplasia type 1 (MEN 1) involves the unmasking of a recessive mutation at the MEN 1 locus which has been mapped to chromosomal region 11q11-13. By analyzing 58 DNA markers on a panel of radiation-reduced somatic cell hybrids, the region encompassing the MEN 1 gene was divided into nine subregions. Pulsed field gel electrophoresis analysis of markers within subgroups showed that the recombination rate around the MEN 1 locus is high. Combined linkage analysis in MEN 1 families and deletion mapping in MEN 1-related tumors suggest the MEN 1 gene is located centromeric to D11S807 and ...


Molecular Genetic Mapping Of The Multiple Endocrine Neoplasia Type 1 Locus, Joanna T. Pang, Mark A. Pook, James H. Eubanks, Carol Jones, Veronica Van Heyningen, Glen A. Evans, Rajesh V. Thakker Sep 1992

Molecular Genetic Mapping Of The Multiple Endocrine Neoplasia Type 1 Locus, Joanna T. Pang, Mark A. Pook, James H. Eubanks, Carol Jones, Veronica Van Heyningen, Glen A. Evans, Rajesh V. Thakker

Henry Ford Hospital Medical Journal

Familial multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant disorder characterized by the combined occurrence of tumors of the parathyroid glands, the endocrine pancreas, and the pituitary gland. MEN 1 tumors have previously been shown to be associated with the loss of alleles on chromosome 11, and deletion mapping studies together with family linkage studies have localized the MEN 1 gene to 11q13. A detailed genetic map around the MEN 1 locus is required to facilitate further characterization and cloning of the gene (MEN1). We have characterized a panel of seven rodent-human somatic cell hybrids which contain ...


Prospective Screening In Multiple Endocrine Neoplasia Type 1, Britt Skogseid, Kjell Oberg Sep 1992

Prospective Screening In Multiple Endocrine Neoplasia Type 1, Britt Skogseid, Kjell Oberg

Henry Ford Hospital Medical Journal

To assess the age of clinically detectable onset of multiple endocrine neoplasia type 1 (MEN 1), 88 members of four families were invited to participate in a ten-year biochemical screening program. Evidence for clinically detectable MEN 1 was found in adolescence. Pancreatic endocrine dysfunction constituted the presenting lesion in a majority of these individuals. The age at diagnosis of pancreatic endocrine tumors averaged 25 years and was lowered by almost two decades by prospective investigation. Furthermore, the penetrance of the pancreatic endocrine and parathyroid lesions equaled the penetrance found in autopsy studies. The use of a standardized meal stimulation test ...


The Importance Of Screening For The Men 1 Syndrome: Diagnostic Results And Clinical Management, C. J. M. Lips, H. P. F. Koppeschaar, M. J. H. Berends, J. M. Jansen-Schillhorn Van Veen, A. Struyvenberg, Th. J. M. V. Van Vroonhoven Sep 1992

The Importance Of Screening For The Men 1 Syndrome: Diagnostic Results And Clinical Management, C. J. M. Lips, H. P. F. Koppeschaar, M. J. H. Berends, J. M. Jansen-Schillhorn Van Veen, A. Struyvenberg, Th. J. M. V. Van Vroonhoven

Henry Ford Hospital Medical Journal

No abstract provided.


Parathyroid Tumor Biology In Familial Multiple Endocrine Neoplasia Type 1: A Model For Cancer Development, Maria Luisa Brandi Sep 1992

Parathyroid Tumor Biology In Familial Multiple Endocrine Neoplasia Type 1: A Model For Cancer Development, Maria Luisa Brandi

Henry Ford Hospital Medical Journal

Familial multiple endocrine neoplasia type 1 (FMEN 1) is an autosomal dominant disorder characterized by tumors of the parathyroid glands, pancreatic islets, and anterior pituitary. Hyperplasia appears to be the typical histopathological lesion in FMEN 1 endocrine tumors. A circulating mitogen related to basic fibroblast growth factor was active on proliferation of clonal bovine and human parathyroid endothelial cells. Moreover, the FMEN 1 mitogen modulated differentiation of human parathyroid endothelial cell in vitro. All these facts suggested that an extrinsic factor was active on parathyroid endothelial cell growth and differentiation. The FMEN 1 gene maps to chromosome 11q13, and allelic ...


Hyperparathyroidism With Normal Albumin-Corrected Total Calcium In Patients With Multiple Endocrine Neoplasia Type 1, J. J. Shepherd, Bin Tean Teh, V. Parameswaran, R. David Sep 1992

Hyperparathyroidism With Normal Albumin-Corrected Total Calcium In Patients With Multiple Endocrine Neoplasia Type 1, J. J. Shepherd, Bin Tean Teh, V. Parameswaran, R. David

Henry Ford Hospital Medical Journal

In the largest reported family of patients with multiple endocrine neoplasia type 1 (MEN 1), hyperparathyroidism was expressed at first screening in 33 patients by elevation of ionized calcium (IC) (30 cases) or parathyroid hormone (three cases) without elevation of albumin-corrected total calcium (ACTC). Three of these 33 patients have shown a progressive rise in IC and later an elevation of ACTC. However, the age distribution suggests that in others the level of IC may remain stable at a minimally elevated level throughout life with ACTC remaining normal except for transient rises at the times of intercurrent illness or surgical ...


Primary Hyperparathyroidism In Patients With Multiple Endocrine Neoplasia Type 1: Experience By A Single Surgical Team In Japan, Takao Obara, Yoshihide Fujimoto, Yukio Ito Sep 1992

Primary Hyperparathyroidism In Patients With Multiple Endocrine Neoplasia Type 1: Experience By A Single Surgical Team In Japan, Takao Obara, Yoshihide Fujimoto, Yukio Ito

Henry Ford Hospital Medical Journal

Nineteen patients were surgically treated for hyperparathyroidism associated with multiple endocrine neoplasia type 1 syndrome. Fourteen patients (74%) had removal of three or more parathyroid glands at the first operation, and five (26%) by removal of 2 1/2 or fewer glands. Two patients had recurrent hypercalcemia during the mean follow-up period of 65 months. One had a recurrence 10 years after subtotal parathyroidectomy. Reexploration in this patient revealed enlargement of the remaining tissue in the neck and an enlarged supernumerary gland in the aorticopulmonary window. The other patient had persistent hypercalcemia after removal of two hyperplastic parathyroid glands until ...


Isolation Of Yac Clones From The Pericentromeric Region Of Chromosome 10 And Development Of New Genetic Markers Linked To The Multiple Endocrine Neoplasia Type 2a Gene, Terry C. Lairmore, James R. Howe, Shenshen Dou, Rosalie Veile, Jennifer A. Korte-Sarfaty, Samuel A. Wells Jr., Helen Donis-Keller Sep 1992

Isolation Of Yac Clones From The Pericentromeric Region Of Chromosome 10 And Development Of New Genetic Markers Linked To The Multiple Endocrine Neoplasia Type 2a Gene, Terry C. Lairmore, James R. Howe, Shenshen Dou, Rosalie Veile, Jennifer A. Korte-Sarfaty, Samuel A. Wells Jr., Helen Donis-Keller

Henry Ford Hospital Medical Journal

Genetic linkage mapping and contig assembly using yeast artificial chromosome (YAC) technology form the basis of our strategy to clone and define the genomic structure of the pericentromeric region of chromosome 10 containing the multiple endocrine neoplasia type 2A gene. Thus far YAC walks have been initiated from five chromosome 10 pericentromeric loci including RBP3, D10S94, RET, D10Z1, and FNRB. Long range pulsed-field gel electrophoresis maps are constructed from the YACs isolated to define clone overlaps and to identify putative CpG islands. Bidirectional YAC walks are continued by rescreening the YAC library with sequence-tagged site assays developed from endclones. Several ...


A Preliminary Analysis Of Consortium Data For Markers Tightly Linked To Multiple Endocrine Neoplasia Type 2a, J. B. Lichter, S. M. Hackleman, B. A. J. Ponder, D. Easton, S. A. Narod, G. M. Lenoir, R. F. Gagel, N. E. Simpson, E. Gardner, P. J. Goodfellow, S. Takai, A. J. Pakstis, K. K. Kidd Sep 1992

A Preliminary Analysis Of Consortium Data For Markers Tightly Linked To Multiple Endocrine Neoplasia Type 2a, J. B. Lichter, S. M. Hackleman, B. A. J. Ponder, D. Easton, S. A. Narod, G. M. Lenoir, R. F. Gagel, N. E. Simpson, E. Gardner, P. J. Goodfellow, S. Takai, A. J. Pakstis, K. K. Kidd

Henry Ford Hospital Medical Journal

We have analyzed DNA marker typing data contributed by six independent groups to estimate the pairwise genetic distances between these markers and the locus for multiple endocrine neoplasia type 2A (MEN 2A). We used LIPED to calculate these distances for female, male, and sex-average linkage maps and to determine the corresponding LOD scores. The preliminary analyses of this large data set (89 MEN 2A families and five non-MEN 2A references families, with 1,934 total individuals) are reported here. These refined estimates of the genetic map in this region will aid in the assignment of presymptomatic diagnoses. This study clearly ...


Surgical Treatment Of The Endocrine Pancreas And Zollinger-Ellison Syndrome In The Men 1 Syndrome, Norman W. Thompson Sep 1992

Surgical Treatment Of The Endocrine Pancreas And Zollinger-Ellison Syndrome In The Men 1 Syndrome, Norman W. Thompson

Henry Ford Hospital Medical Journal

Islet cell neoplasia is a frequent occurrence in multiple endocrine neoplasia type 1 (MEN 1). Sixteen of 27 patients with MEN 1 developed functioning endocrine pancreatic tumor syndromes. Eleven of the 16 developed Zollinger-Ellison syndrome and each was evaluated by a combination of computed tomography and hepatic angiography to exclude hepatic metastasis and percutaneous transhepatic catheterization to localize the tumor. Seven of the 11 patients were found to have duodenal gastrinomas with multiple duodenal tumors in three patients. Four of the 11 patients had only pancreatic gastrinomas. In addition to the gastrinomas, other types of islet tumors in the pancreatic ...


Localization Of The Gene For Men 2a, Jay B. Lichter, Michael Difilippantonio, Jingshi Wu, Diane Miller, David C. Ward, Paul J. Goodfellow, Kenneth K. Kidd Sep 1992

Localization Of The Gene For Men 2a, Jay B. Lichter, Michael Difilippantonio, Jingshi Wu, Diane Miller, David C. Ward, Paul J. Goodfellow, Kenneth K. Kidd

Henry Ford Hospital Medical Journal

The search for the gene that causes the multiple endocrine neoplasia type 2A (MEN 2A) syndrome is entering a new phase. Genetic linkage studies have localized the gene to the pericentromeric region of chromosome 10. The statistical portion of mapping the gene for MEN 2A is nearly complete and now classical molecular biological/gene mapping techniques will be employed. We have used fluorescence in situ hybridization to estimate the size of the MEN2A region to be about 2 to 5 mb, using some liberal assumptions; at worst the region should contain no more than about 10 mb of non-alphoid DNA ...


Expression Of The Ret Proto-Oncogene In Human Medullary Thyroid Carcinomas And Pheochromocytomas Of Men 2a, Akihiro Miya, Masayuki Yamamoto, Hideki Morimoto, Norifumi Tanaka, Esei Shin, Katsu Karakawa, Kumao Toyoshima, Yukihito Ishizaka, Takesada Mori, Shin-Ichiro Takai Sep 1992

Expression Of The Ret Proto-Oncogene In Human Medullary Thyroid Carcinomas And Pheochromocytomas Of Men 2a, Akihiro Miya, Masayuki Yamamoto, Hideki Morimoto, Norifumi Tanaka, Esei Shin, Katsu Karakawa, Kumao Toyoshima, Yukihito Ishizaka, Takesada Mori, Shin-Ichiro Takai

Henry Ford Hospital Medical Journal

We studied the expression of the ret proto-oncogene (proto-ret) in human medullary thyroid carcinomas (MTCs) and pheochromocytomas of multiple endocrine neoplasia type 2A (MEN 2A) by Northern blot analysis. Expression of the normal-sized transcripts was detected in all 12 MTCs and in 6 of 8 pheochromocytomas. In situ localization of proto-ret mRNA revealed that the signal was confined to the cytoplasm of MTC cells. By Southern blot analysis neither amplification nor gross genetic changes of proto-ret were found in the tumors. Although no transcripts were detected in the normal portion of the thyroid from one MEN 2A patient,faint signals ...


Medullary Thyroid Carcinoma: Australian Experience With Genetic Testing, Janet L. Ward, Valentine J. Hyland, David S. Andrew, Debbie J. Marsh, Bruce G. Robinson Sep 1992

Medullary Thyroid Carcinoma: Australian Experience With Genetic Testing, Janet L. Ward, Valentine J. Hyland, David S. Andrew, Debbie J. Marsh, Bruce G. Robinson

Henry Ford Hospital Medical Journal

Linkage analysis has been performed in four pedigrees with multiple endocrine neoplasia type 2A (MEN 2A) or familial medullary thyroid carcinoma (MTC) using pericentromeric chromosome 10 probes. Important information regarding carrier status has been provided in 10 individuals, many of whom would not have been identified by pentagastrin stimulation testing. We have also used pulsed field gel electrophoresis (PFGE) to link the probes H4JRBP and pMCK2 to a 150 kb fragment. Using PFGE, no evidence was found in DNA from lymphocytes of a major DNA rearrangement in two individuals affected with MEN 2A and an individual with MEN 2B compared ...


Genetics Of The Multiple Endocrine Neoplasia Type 2b Syndrome, Charles E. Jackson, Robert A. Norum Sep 1992

Genetics Of The Multiple Endocrine Neoplasia Type 2b Syndrome, Charles E. Jackson, Robert A. Norum

Henry Ford Hospital Medical Journal

Multiple endocrine neoplasia type 2B (MEN 2B) is similar to MEN 2A in that both autosomal dominant syndromes include medullary thyroid cancers and pheochromocytomas. It is distinct in that MEN 2B patients have much earlier age of onset with more aggressive tumors and mucosa/neuromas of the lips and tongue. The neuromas allow ascertainment generally before age 5. Studies of two and three generations of 14 MEN 2B families disclosed close linkage of the MEN 2B gene to DNA markers to which MEN2A had been linked. Multipoint analysis utilizing additional results in three generations of a 15th family have disclosed ...


High-Sensitivity Serum Calcitonin Assays Applied To Screening For Thyroid C-Cell Disease In Multiple Endocrine Neoplasia Type 2a, Michael M. Kaplan, Glenn M. Stall, Timothy Cummings, Andrew Macaulay, Philippe Motté, Hubert J. Wolfe, Seymour Reichlin, Arman J. Tashjian Jr. Sep 1992

High-Sensitivity Serum Calcitonin Assays Applied To Screening For Thyroid C-Cell Disease In Multiple Endocrine Neoplasia Type 2a, Michael M. Kaplan, Glenn M. Stall, Timothy Cummings, Andrew Macaulay, Philippe Motté, Hubert J. Wolfe, Seymour Reichlin, Arman J. Tashjian Jr.

Henry Ford Hospital Medical Journal

Two serum calcitonin assays with sensitivities ≤ 10 pg/mL were compared to our standard radioimmunoassay (sensitivity 100 pg/mL) in multiple endocrine neoplasia type 2A (MEN 2A) screening. Values from the Nichols displacement radioimmunoassay averaged 38% higher than values from the CIS immunoradiometric assay; values from both were highly correlated, r = 0.845. In three individuals, both of the newer assays revealed abnormalities in pentagastrin tests three to four years before abnormalities were detected by the standard assay. Pentagastrin tests after total thyroidectomy were assayed by the newer methods in patients with medullary thyroid carcinoma (MTC) diagnosed at initial testing ...