Concurrent pheochromocytoma, paraganglioma, papillary thyroid carcinoma, and desmoid tumor

A case report with analyses at the molecular level

Lucio Scopsi, Luca Cozzaglio, Paola Collini, Maria Gullo, Italia Bongarzone, Monica Giarola, Paolo Radice, Leandro Gennari

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Reports on the association of papillary thyroid carcinoma with paraganglionic or desmoid tumors have appeared infrequently. The former setting usually affects middle-aged females; the latter is typical of familial adenomatous polyposis. We report the case of a 69-yr-old man in whom two abdominal masses had been instrumentally detected following an access of abdominal pain. Save for a moderate hypertension, he was asymptomatic and an impalpable thyroid nodule was detected by ultrasonography. A high urinary noradrenaline output and cytology of the masses raised the suspicion of pheochromocytoma. At laparotomy, an adrenal pheochromocytoma and a paracaval paraganglioma were excised. Subsequently, hemithyroidectomy was performed, and histopathology revealed papillary microcarcinoma. A nodule of desmoid tumor was also removed from the abdominal wall. An analysis of RET, APC, and TP53 gene mutations, and of RET and NTRK1 gene rearrangements, yielded negative results. No in vitro transforming activity was detected in the tumor DNA when assayed in transfection experiments. The lack of a consistent family history also made unlikely the possibility of identifying the putative germline defect by linkage analyses. Should this unusual aggregation of tumors represent a new entity, a number of genetic alterations have now been excluded.

Original languageEnglish
Pages (from-to)79-90
Number of pages12
JournalEndocrine Pathology
Volume9
Issue number1
Publication statusPublished - 1998

Fingerprint

Aggressive Fibromatosis
Paraganglioma
Pheochromocytoma
Neoplasms
APC Genes
Adenomatous Polyposis Coli
Thyroid Nodule
Gene Rearrangement
p53 Genes
Abdominal Wall
Laparotomy
Abdominal Pain
Transfection
Cell Biology
Ultrasonography
Norepinephrine
Hypertension
Mutation
Papillary Thyroid cancer
DNA

Keywords

  • APC
  • Desmoid tumor
  • Multiple tumors
  • NTRK1
  • Papillary thyroid carcinoma
  • Paraganglioma
  • Pheochromocytoma
  • RET
  • TP53

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pathology and Forensic Medicine

Cite this

Concurrent pheochromocytoma, paraganglioma, papillary thyroid carcinoma, and desmoid tumor : A case report with analyses at the molecular level. / Scopsi, Lucio; Cozzaglio, Luca; Collini, Paola; Gullo, Maria; Bongarzone, Italia; Giarola, Monica; Radice, Paolo; Gennari, Leandro.

In: Endocrine Pathology, Vol. 9, No. 1, 1998, p. 79-90.

Research output: Contribution to journalArticle

@article{0e0428dd7a364913acace02f1f7961a4,
title = "Concurrent pheochromocytoma, paraganglioma, papillary thyroid carcinoma, and desmoid tumor: A case report with analyses at the molecular level",
abstract = "Reports on the association of papillary thyroid carcinoma with paraganglionic or desmoid tumors have appeared infrequently. The former setting usually affects middle-aged females; the latter is typical of familial adenomatous polyposis. We report the case of a 69-yr-old man in whom two abdominal masses had been instrumentally detected following an access of abdominal pain. Save for a moderate hypertension, he was asymptomatic and an impalpable thyroid nodule was detected by ultrasonography. A high urinary noradrenaline output and cytology of the masses raised the suspicion of pheochromocytoma. At laparotomy, an adrenal pheochromocytoma and a paracaval paraganglioma were excised. Subsequently, hemithyroidectomy was performed, and histopathology revealed papillary microcarcinoma. A nodule of desmoid tumor was also removed from the abdominal wall. An analysis of RET, APC, and TP53 gene mutations, and of RET and NTRK1 gene rearrangements, yielded negative results. No in vitro transforming activity was detected in the tumor DNA when assayed in transfection experiments. The lack of a consistent family history also made unlikely the possibility of identifying the putative germline defect by linkage analyses. Should this unusual aggregation of tumors represent a new entity, a number of genetic alterations have now been excluded.",
keywords = "APC, Desmoid tumor, Multiple tumors, NTRK1, Papillary thyroid carcinoma, Paraganglioma, Pheochromocytoma, RET, TP53",
author = "Lucio Scopsi and Luca Cozzaglio and Paola Collini and Maria Gullo and Italia Bongarzone and Monica Giarola and Paolo Radice and Leandro Gennari",
year = "1998",
language = "English",
volume = "9",
pages = "79--90",
journal = "Endocrine Pathology",
issn = "1046-3976",
publisher = "Humana Press",
number = "1",

}

TY - JOUR

T1 - Concurrent pheochromocytoma, paraganglioma, papillary thyroid carcinoma, and desmoid tumor

T2 - A case report with analyses at the molecular level

AU - Scopsi, Lucio

AU - Cozzaglio, Luca

AU - Collini, Paola

AU - Gullo, Maria

AU - Bongarzone, Italia

AU - Giarola, Monica

AU - Radice, Paolo

AU - Gennari, Leandro

PY - 1998

Y1 - 1998

N2 - Reports on the association of papillary thyroid carcinoma with paraganglionic or desmoid tumors have appeared infrequently. The former setting usually affects middle-aged females; the latter is typical of familial adenomatous polyposis. We report the case of a 69-yr-old man in whom two abdominal masses had been instrumentally detected following an access of abdominal pain. Save for a moderate hypertension, he was asymptomatic and an impalpable thyroid nodule was detected by ultrasonography. A high urinary noradrenaline output and cytology of the masses raised the suspicion of pheochromocytoma. At laparotomy, an adrenal pheochromocytoma and a paracaval paraganglioma were excised. Subsequently, hemithyroidectomy was performed, and histopathology revealed papillary microcarcinoma. A nodule of desmoid tumor was also removed from the abdominal wall. An analysis of RET, APC, and TP53 gene mutations, and of RET and NTRK1 gene rearrangements, yielded negative results. No in vitro transforming activity was detected in the tumor DNA when assayed in transfection experiments. The lack of a consistent family history also made unlikely the possibility of identifying the putative germline defect by linkage analyses. Should this unusual aggregation of tumors represent a new entity, a number of genetic alterations have now been excluded.

AB - Reports on the association of papillary thyroid carcinoma with paraganglionic or desmoid tumors have appeared infrequently. The former setting usually affects middle-aged females; the latter is typical of familial adenomatous polyposis. We report the case of a 69-yr-old man in whom two abdominal masses had been instrumentally detected following an access of abdominal pain. Save for a moderate hypertension, he was asymptomatic and an impalpable thyroid nodule was detected by ultrasonography. A high urinary noradrenaline output and cytology of the masses raised the suspicion of pheochromocytoma. At laparotomy, an adrenal pheochromocytoma and a paracaval paraganglioma were excised. Subsequently, hemithyroidectomy was performed, and histopathology revealed papillary microcarcinoma. A nodule of desmoid tumor was also removed from the abdominal wall. An analysis of RET, APC, and TP53 gene mutations, and of RET and NTRK1 gene rearrangements, yielded negative results. No in vitro transforming activity was detected in the tumor DNA when assayed in transfection experiments. The lack of a consistent family history also made unlikely the possibility of identifying the putative germline defect by linkage analyses. Should this unusual aggregation of tumors represent a new entity, a number of genetic alterations have now been excluded.

KW - APC

KW - Desmoid tumor

KW - Multiple tumors

KW - NTRK1

KW - Papillary thyroid carcinoma

KW - Paraganglioma

KW - Pheochromocytoma

KW - RET

KW - TP53

UR - http://www.scopus.com/inward/record.url?scp=0031777491&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031777491&partnerID=8YFLogxK

M3 - Article

VL - 9

SP - 79

EP - 90

JO - Endocrine Pathology

JF - Endocrine Pathology

SN - 1046-3976

IS - 1

ER -