Neoplasms

All Conditions

Gland and Hormone Related Diseases

Rare Diseases

Carcinoma

Thyroid Neoplasms

Thyroid Diseases

Thyroid Cancer, Papillary

Carcinoma, Papillary

Endocrine System Diseases

Papillary Thyroid Carcinoma

Ohio State University Comprehensive Cancer Center

Pamela Brock, LGC

Pam Brock, LGC

Matthew Ringel, MD

The aim of this project is to identify genetic risk factors associated with familial papillary thyroid carcinoma (PTC). Papillary thyroid cancer is a type of cancer that shows high heritability. However, the specific genetic factors that cause an increased risk have been elusive.

The aim of this project is to identify genetic risk factors associated with familial papillary thyroid carcinoma (PTC). This can be accomplished in several ways, including loss of heterozygosity studies as well as comparative gene expression analysis. When possible, linkage analysis on families with multiple individuals affected with PTC may also help identify the putative gene(s).

Study participants will be asked to:

1. Complete family history and medical history questionnaires
2. Sign a medical record release so that thyroid cancer pathology reports can be obtained
3. Supply a blood or saliva sample for genetic studies
4. Provide study related information to family members who are needed for family studies

DNA, RNA, and (in some cases) lymphoblastoid cell lines will be maintained in the Ohio State University (OSU) Division of Human Genetics Sample Bank for the duration of the study.

A Gene Hunting Study for Familial Papillary Thyroid Cancer

A Strategy to Search for Genes Predisposing to Papillary Carcinoma of the Thyroid When Mutated

Variants will be assessed for segregation within families, expression in the normal thyroid and/or thyroid cancer, and functional significance

Principal Investigator

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Neoplasms, Squamous Cell

Adult patients who have had a papillary microcarcinoma asymptomatic and who are followed.

The questionnaire is about hypocalcemia, dysphonia and anxiety. It will be carried out by phone call for 10 minutes

Questionnaire

Agnès DUPRET-BORIES, MD

This is a study assessing the interest of post-operative follow-up of asymptomatic papillary microcarcinomas. Today, this post-operative follow-up represents an economic cost and is a source of anxiety for patients.

The aim of this study is to determine the global survival of patients with asymptomatic papillary microcarcinoma to assess the interest of a post-operative ultrasound and/or biological follow-up.

Postoperative Follow-up of Asymptomatic Papillary Microcarcinomas on Patient Survival

Interest of Postoperative Follow-up of Asymptomatic Papillary Microcarcinomas on Patient Survival

No recurrence clinically detected or by additional examen

Recurrence detection by additional examen

University Hospital, Toulouse

Symptoms and General Pathology

Neoplasm Metastasis

Lymphatic Metastasis

Neoplastic Processes

Endocrine Gland Neoplasms

Head and Neck Neoplasms

Adenocarcinoma

Adenocarcinoma, Papillary

In absence of nodal metastases or aggressive features, thyroid lobectomy (TL) should be preferred over total thyroidectomy (TT) for small unifocal, papillary thyroid carcinoma(PTC). However, occult, despite non-microscopic (\>2 mm), nodal metastases may be present inclinically node-negative (cN0) PTC.

Among 4216 thyroidectomies for malignancy (2014-2023), 110 (2.6%) TL plus ipsilateral central neck dissections (I-CND) were scheduled for unifocal cT1b/small cT2 (\<3 cm) cN0 PTCs.

Nodes frozen section examination (FSE) was performed: when positive, completion thyroidectomy (CT) was accomplished during the same procedure. In presence of aggressive pathologic features, CT was suggested within 6 months from index operation.

Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. Although its incidence has increased in recent decades, the prognosis is excellent due to the indolent nature of disease. Despite that, recurrence rate of PTC remains common. Nowadays, the correct extent of thyroidectomy remains controversial. However, several studies demonstrated no significant differences in terms of disease-free survival (DFS) and loco-regional recurrence (LRR) in differentiated thyroid carcinoma (DTC) \> 1cm after thyroid lobectomy (TL) vs thyroid lobectomy (TT). In absence of preoperative high-risk features (HRFs), the most recent NCCN and ATA guidelines consider unifocal 1-4 cm PTC eligible for TL. However, many of HRFs are highlighted only after histological examination: positive lymph nodes, aggressive tumor subtype, multifocality, microscopic extrathyroidal extension (ETE), positive margin and lymphovascular invasion (LVI).

Recent retrospective series showed that up to 59% of preoperative low risk PCT were upgraded to higher risk category after histological examination. Current recommendations could potentially increase the need for reoperation, in terms of completion thyroidectomy (CT) and subsequent administration of RAI in order to reduce the risk of LRR. Among the HRFs, no preoperative clinical parameter is a predictor of nodal disease. However, occult lymph node metastases (LNMs) may be found in 31-62% of patients subjected to prophylactic CND (p-CND). The risk of complications (hypoparathyroidism and laryngeal nerve injury) is the main matter against prophylactic bilateral CND in unifocal node negative PCT. According to a recent systematic review, basing on prevalence of occult central LNM by tumor size, ipsilateral central neck dissection (I-CND) may be justified in all PTC patients. Since isolated contralateral metastases are rare, a routine use of frozen section examination (FSE) of I-CND may allow a more accurate staging with a reduction of morbidity. Although p-CND is not usually recommended in patients with clinically unifocal cT1b/T2 node negative PTC, we supposed that the evaluation of LN status through FSE of I-CND may contribute significantly to risk stratification and consequently to modulate the extension of surgical treatment.

In this retrospective study we aim to evaluate the result of this strategy to identify intraoperatively patients who may benefit from total thyroidectomy (TT) with bilateral CND (B-CND), reducing the need of second step CT and, theoretically, the risk of LRR.

Among 4176 patients who underwent thyroidectomy for malignancy between September 2014 and September 2023 at Fondazione Policlinico Universitario A. Gemelli - Rome, we identified X patients scheduled for thyroid lobectomy (TL) plus ipsilateral central neck dissection (I-CND) for clinically intrathyroidal unifocal cT1b/small cT2 node negative papillary thyroid carcinoma (PTC). Every patient was informed of the risks and benefits of TL and TT, based on available guidelines.

Inclusion criteria were: age\>18; classic papillary carcinoma and variants; clinically unifocal and intrathyroidal PTC; clinical tumor size \>1 cm and ≤3 cm; no clinical evidence of LN involvement.

Exclusion criteria were: age \< 18 years; prior head or neck irradiation; family history of thyroid carcinoma; clinical evidence of multifocality, extrathyroidal extension or LN metastases; follow-up \< 6 months.

More Than 50% of the Patients With Clinically Unifocal T1b/Small T2 Node Negative Papillary Thyroid Carcinoma Scheduled for Thyroid Lobectomy May Require Completion Thyroidectomy if the Nodal Status is Evaluated

Evaluation of patients with papillary thyroid carcinoma with histopathology risk factors (such as nodal metastases, aggressive variants, lympho-angioinvasion, extranodal extension, multifocalty, positive resection status) who may require completion thyroidectomy.

Evaluation of recurrence of the disease among the patients' cohort

Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Ear, Nose, and Throat Diseases

Nervous System Diseases

Eye Diseases

Heart and Blood Diseases

Diseases and Abnormalities at or Before Birth

Skin and Connective Tissue Diseases

Kidney Diseases

Hearing Loss

Deafness

Retinal Diseases

Von Hippel-Lindau Disease

Kidney Neoplasms

Hemangioblastoma

Urologic Diseases

Urogenital Diseases

Female Urogenital Diseases

Pregnancy Complications

Female Urogenital Diseases and Pregnancy Complications

Male Urogenital Diseases

Hearing Disorders

Ear Diseases

Otorhinolaryngologic Diseases

Sensation Disorders

Neurologic Manifestations

Urologic Neoplasms

Urogenital Neoplasms

Syndrome

Neurocutaneous Syndromes

Angiomatosis

Vascular Diseases

Ciliopathies

Congenital Abnormalities

Abnormalities, Multiple

Genetic Diseases, Inborn

Endolymphatic Sac Tumor

The von Hippel Lindau (VHL) gene has recently been identified as the genetic defect resulting in a syndrome of multiple neoplasias. Patients with VHL disease develop retinal angiomata, renal cysts and/or carcinomas, CNS hemangioblastomas as well as pancreatic cysts and pheochromocytomas. Investigators have shown the gene to be a tumor suppressor type proto-oncogene located at chromosomal locus 3p26. The gene includes three exons whose gene product targets a cellular transcription factor Elongin SIII. Binding of the VHL proteins to two subunits of this elongation factor inhibits transcription and may play a crucial role in the clinical development of the von Hippel Lindau phenotype.

Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors

National Institute of Neurological Disorders and Stroke (NINDS)

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
A Gene Hunting Study for Familial Papillary Thyroid Cancer	NCT02776969	Thyroid		18 Years -	Ohio State University Comprehensive Cancer Center
A Gene Hunting Study for Familial Papillary Thyroid Cancer	NCT02776969	Thyroid		18 Years -	Ohio State University Comprehensive Cancer Center
A Gene Hunting Study for Familial Papillary Thyroid Cancer	NCT02776969	Thyroid		18 Years -	Ohio State University Comprehensive Cancer Center
Postoperative Follow-up of Asymptomatic Papillary Microcarcinomas on Patient Survival	NCT05873361	Papillary Carci...	Questionnaire	18 Years -	University Hospital, Toulouse
Postoperative Follow-up of Asymptomatic Papillary Microcarcinomas on Patient Survival	NCT05873361	Papillary Carci...	Questionnaire	18 Years -	University Hospital, Toulouse
More Than 50% of the Patients With Clinically Unifocal T1b/Small T2 Node Negative Papillary Thyroid Carcinoma Scheduled for Thyroid Lobectomy May Require Completion Thyroidectomy if the Nodal Status is Evaluated	NCT06439745	Papillary Thyro... Papillary Carci... Thyroid Cancer Thyroid Carcino... Thyroid Cancer,... Lymph Node Meta...		18 Years -	Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural History and Pathobiology, and a Prospective Non-Randomized Clinical Trial of Hearing Preservation Surgery in Patients With Early Stage Endolymphatic Sac Tumors	NCT00001668	Deafness Kidney Diseases Kidney Neoplasm... Neoplasms Retinal Disease...		-	National Institutes of Health Clinical Center (CC)

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