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772 Possible Causes for 9 BP, CARCINOMA,, DUP,, EX8, FAMILIAL, MEDULLARY,, Thyroid

  • Familial Medullary Thyroid Carcinoma

    These studies clearly revealed adrenal medullary hyperplasia as reflected by a two- to three-fold increase in medullary volume and weight as compared to age- and sex-matched[ncbi.nlm.nih.gov] Abstract Familial medullary thyroid carcinoma is a distinct clinical entity in which early diagnosis by screening of family members for elevated calcitonin levels can be useful[ncbi.nlm.nih.gov] Abstract We studied prospectively 46 members of a kindred with familial medullary thyroid carcinoma to determine the importance of possible cellular immune reactivity to tumor[ncbi.nlm.nih.gov] Genetic analysis demonstrated the absence of an usual FMTC mutation and the presence of a germline 9-bp duplication in RET exon 8 in the heterozygous state in all patients[ncbi.nlm.nih.gov] thyroid carcinoma and multiple endocrine neoplasia type II.[ncbi.nlm.nih.gov] The 39 RET germline mutations identified in fMTC patients are all missense changes in exons-5, 8, 10, 11, 13, 14, 15, 16, except for a 9-bp duplication after codon-531.[endocrine-abstracts.org] Genetic testing is important for making decisions about treatment and follow-up in families of this kind.[ncbi.nlm.nih.gov]

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  • Calcitonin

    Abstract We report the case history of a patient with long standing recurrent medullary carcinoma of the thyroid.[ncbi.nlm.nih.gov] […] with familial medullary thyroid cancer (RET gene mutation L790F).[ncbi.nlm.nih.gov] Microsatellite Segmental Dups Self Chain p12 Simple Repeats p12 WM SDust[genome.ucsc.edu] Can Med Assoc J 155 (1996): 962-5 9. Crisp AJ "Pizotifen to prevent side-effects of calcitonin." Lancet 1 (1981): 775 10. Deftos LJ, First BP "Calcitonin as a drug."[drugs.com] Abstract Neuroendocrine tumors (NETs) of the thyroid are rare; the most common type is medullary thyroid carcinoma (MTC).[ncbi.nlm.nih.gov] CONTEXT: Calcitonin is a sensitive biomarker that is used for diagnosis and follow-up in medullary thyroid cancer (MTC).[ncbi.nlm.nih.gov] OBJECTIVE: Medullary thyroid carcinoma (MTC) is a rare thyroid malignancy originating from parafollicular C-cells with the potential for aggressive behavior.[ncbi.nlm.nih.gov]

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  • Multiple Endocrine Neoplasia

    Vandetanib has a role in the treatment of patients including children with inoperable locally advanced and metastatic medullary carcinoma of thyroid.[ncbi.nlm.nih.gov] Later, additional nonendocrine conditions (von Recklinghausen neurofibromatosis and von Hippel-Lindau disease) were found accompanying other more recently described familial[doi.org] It is generally caused by parathyroid hyperplasia, and parathyroid carcinoma is rare.[ncbi.nlm.nih.gov] Tests Available MEN1 Gene Sequencing and Del/Dup MEN1 Del/Dup Forms and Documents Test Details Clinical Utility: An individual with a personal and/or family history of tumors[genedx.com] On the basis of their major features, new familial MEN syndromes should manifest (i) a new endocrine tumour combination, (ii) autosomal dominant inheritance, and, possibly[ncbi.nlm.nih.gov] Multiple low attenuation mass in the liver was observed in a computed tomography (CT) scan, and was suspected as ectopic ACTH-secreting metastatic tumor from medullary thyroid[ncbi.nlm.nih.gov] We describe the case of a 28-year-old man who presented to us with metastatic medullary thyroid carcinoma.[ncbi.nlm.nih.gov]

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  • PTEN Hamartoma Tumor Syndrome

    Review of literature regarding cancer risks for individuals with PTEN mutations includes an increased lifetime risk for female breast (up to 85%), non-medullary thyroid (35%[epostersonline.com] The PTEN clinic’s interdisciplinary staff accommodate approximately 50 family visits each year.[consultqd.clevelandclinic.org] OBJECTIVE: To formally study the prevalence and histologic classification of renal cell carcinoma (RCC) in a series of patients with PTEN hamartoma tumor syndrome (PHTS).[ncbi.nlm.nih.gov] Tests Available PTEN Gene Sequencing and Del/Dup Forms and Documents Test Details Clinical Utility: An adult with features of PTEN hamartoma tumor syndrome (PHTS), such as[genedx.com] Mutations have been reported throughout the coding region, and sequencing of all 9 exons is recommended (Eng Hum Mut 22:183-198, 2003).[preventiongenetics.com] Five of the seven children in this cohort developed thyroid cancer. CONCLUSIONS: Patients with PHTS can develop thyroid nodules and thyroid cancer in early childhood.[ncbi.nlm.nih.gov] The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%.[snpedia.com]

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  • Familial Adenomatous Polyposis

    Unlike medullary thyroid cancer, most cases of papillary thyroid cancer are sporadic.[healio.com] The authors present 2 patients from different families with familial adenomatous polyposis who presented with the extracolonic manifestation of this syndrome and a family[ncbi.nlm.nih.gov] Abstract Papillary thyroid carcinoma is an extraintestinal manifestation of patients with familial adenomatous polyposis, mainly occurring in young women.[ncbi.nlm.nih.gov] 7-14 days Gene: 1 Test Code: 8726 Test Name: APC & MUTYH seq and del/dup TAT 14-21 days Genes: 2 Why Is This Important?[ambrygen.com] Gut 40 (6): 716-9, 1997.[cancer.gov] Del/dup analysis of the APC gene Price / TAT : 310 EUR / 4-6 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water[asperbio.com] KEYWORDS: APC gene; familial adenomatous polyposis; jejunal carcinoma; mutation[ncbi.nlm.nih.gov]

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  • Birt-Hogg-Dubé Syndrome

    In addition, BHDS has been associated with colon polyps, medullary thyroid cancer, thyroid and parathyroid adenomas, parotid oncocytoma, and neural tissue tumors; however,[phillyderm.org] We describe a BHD-affected Taiwanese family with clinical and genetic study.[ncbi.nlm.nih.gov] DIAGNOSIS: Neuroendocrine carcinoma of prostate or bladder origin. MANAGEMENT: The patient died before planned chemotherapy or radiation therapy could be implemented.[ncbi.nlm.nih.gov] Many others reported - FLCN gene (tumor suppressor) coding for folliculin - AD - Variable expressivity - 15% de novo - Exon 11 seq. 53% DR - Full gene seq. 88% DR - Del/dup[quizlet.com] Exons 9 and 6 were each the site of mutations in three families. All three families with mutations in exon 9 had the 28-bp duplication (c.1378-1405dup).[doi.org] In addition, the 2 patients were also affected with papillary thyroid cancer.[ncbi.nlm.nih.gov] […] present symptoms in 30-79% of the cases: Abnormality of retinal pigmentation Multiple lipomas Pulmonary sequestration Occasionally present symptoms in 5-29% of the cases: Medullary[dovemed.com]

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  • Multiple Endocrine Neoplasia Type 1

    Thus, MEN1 is characterized by the occurrence of parathyroid, pancreatic islet and anterior pituitary tumors; MEN2 is characterized by the occurrence of medullary thyroid[ncbi.nlm.nih.gov] To our knowledge, a MEN1 family with as few clinical features as this family has not been reported to date.[ncbi.nlm.nih.gov] […] for parathyroid carcinoma and do not appear to differ from sporadic parathyroid carcinoma.[ncbi.nlm.nih.gov] Quick Reference Test Code Test Name TAT Genes Test Code: 2642 Test Name: MEN1 specific site analysis TAT 7-14 days Gene: 1 Test Code: 2644 Test Name: MEN1 del/dup TAT 7-14[ambrygen.com] Exons 2-9 and the 5′ 480 bp of exon 10 are translated and encode a 610 amino acid protein.[doi.org] […] of these thyroid tumors is MEN1-related.[ncbi.nlm.nih.gov] Note the calcifications of the right renal medullary pyramids (medullary nephrocalcinosis; black arrows) in this nonenhanced CT scan.[emedicine.com]

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  • Familial Isolated Hyperparathyroidism

    Moo-young TA, Traugott AL, Moley JF (2009) Sporadic and familial medullary thyroid carcinoma: state of the art.[link.springer.com] Familial isolated hyperparathyroidism (FIHP) is a rare genetic disorder.[symptoma.com] MATERIALS AND METHODS: A 13-year-old boy, whose father had died of PT carcinoma, developed primary hyperparathyroidism.[ncbi.nlm.nih.gov] Tests Available CASR Gene Sequencing CDC73 (HRPT2) Gene Sequencing and Del/Dup MEN1 Gene Sequencing and Del/Dup MEN1 Del/Dup Forms and Documents Test Details Clinical Utility[genedx.com] […] differentiated thyroid carcinoma; Paraganglimoa; Immunohistochemical markers for evaluation and prognosis in thyroid carcinoma; Familial endocrine syndromes; Parathyroid enoplasia[books.google.com] […] thyroid cancer RET proto-oncogene Medullary thyroid cancer in at least four family members, with documented absence of other endocrinopathies Hyperparathyroidism-jaw tumor[medicalcriteria.com] One FIHP family with parathyroid carcinoma and atypical adenomas and another FIHP family with cystic parathyroid adenoma had novel frameshift mutations of 518-521del and 62[ncbi.nlm.nih.gov]

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  • Multiple Hamartoma Syndrome

    Surveillance recommendations are governed by the component tumours of CS, namely, breast carcinoma, non-medullary thyroid carcinoma, adenocarcinoma of the endometrium, renal[doi.org] A family tree or a pedigree is a diagram of the members of your extended family, showing your family history. Diagram 1.[uihc.org] Abstract A case of multiple hamartoma syndrome (Cowden's disease) associated with renal cell adenocarcinoma and primary neuroendocrine carcinoma of the skin is described.[ncbi.nlm.nih.gov] No association of a 306-bp insertion polymorphism in the progesterone receptor gene with ovarian and breast cancer. Br J Cancer 1997 ; 75 : 1398 –9.[doi.org] We note that the TCGA thyroid cancer dataset is enriched with unique germline deleterious SEC23B variants associated with a significantly younger age of onset.[ncbi.nlm.nih.gov] Up to 67% risk for benign breast disease Male breast cancer has been reported About 10% lifetime risk for thyroid cancer Usually follicular, sometimes papillary - never medullary[en.wikibooks.org] The lifetime risk for thyroid cancer (usually follicular, rarely papillary, but never medullary thyroid cancer) is approximately 35%.[snpedia.com]

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  • Anaplastic Thyroid Carcinoma

    BACKGROUND: Therapeutic options for treating advanced or metastatic medullary thyroid carcinoma (MTC) and anaplastic thyroid carcinoma (ATC) are still limited in Japan, even[ncbi.nlm.nih.gov] […] response to this innovative multitarget association with foscarnet is based on the histological and genetic finding that fibroblast growth factors and their receptor super-family[ncbi.nlm.nih.gov] Abstract Cutaneous metastases from carcinoma of the thyroid gland are rare and carcinoma erysipeloides is even rarer.[ncbi.nlm.nih.gov] J Ultrasound Med . 2016 Sep. 35 (9):1873-9. [Medline] . [Full Text] .[emedicine.medscape.com] Two cases of a variant of anaplastic thyroid carcinoma with peculiar gross and histologic features closely mimicking those of Riedel's thyroiditis are described in this report[ncbi.nlm.nih.gov] Adults with medullary thyroid carcinoma can be treated safely and effectively with sorafenib, but the agent is less effective for treatment of anaplastic thyroid carcinoma[healio.com] Abstract Anaplastic thyroid carcinoma is the least common form of thyroid cancer; however, it accounts for the majority of deaths associated with this family of malignancies[ncbi.nlm.nih.gov]

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