Diagnosis and Treatment > Signs and Symptoms
Search for other papers by Anna Popławska-Kita in
Google Scholar
PubMed
Search for other papers by Marta Wielogórska in
Google Scholar
PubMed
Search for other papers by Łukasz Poplawski in
Google Scholar
PubMed
Search for other papers by Katarzyna Siewko in
Google Scholar
PubMed
Search for other papers by Agnieszka Adamska in
Google Scholar
PubMed
Search for other papers by Piotr Szumowski in
Google Scholar
PubMed
Search for other papers by Piotr Myśliwiec in
Google Scholar
PubMed
Search for other papers by Janusz Myśliwiec in
Google Scholar
PubMed
Search for other papers by Joanna Reszeć in
Google Scholar
PubMed
Search for other papers by Grzegorz Kamiński in
Google Scholar
PubMed
Search for other papers by Janusz Dzięcioł in
Google Scholar
PubMed
Search for other papers by Dorota Tobiaszewska in
Google Scholar
PubMed
Search for other papers by Małgorzata Szelachowska in
Google Scholar
PubMed
Search for other papers by Adam Jacek Krętowski in
Google Scholar
PubMed
Summary
Papillary thyroid gland carcinoma is the most common type of malignancy of the endocrine system. Metastases to the pituitary gland have been described as a complication of papillary thyroid cancer in few reported cases since 1965. We report the case of a 68-year-old female patient with a well-differentiated form of thyroid gland cancer. Despite it being the most common malignant cancer of the endocrine system, with its papillary form being one of the two most frequently diagnosed thyroid cancers, the case we present is extremely rare. Sudden cardiac arrest during ventricular fibrillation occurred during hospitalization. Autopsy of the patient revealed papillary carcinoma of the thyroid, follicular variant, with metastasis to the sella turcica, and concomitant sarcoidosis of heart, lung, and mediastinal and hilar lymph nodes. Not only does atypical metastasis make our patient’s case most remarkable, but also the postmortem diagnosis of sarcoidosis makes her case particularly unusual.
Learning points:
-
The goal of presenting this case is to raise awareness of the clinical heterogeneity of papillary cancer and promote early diagnosis of unexpected metastasis and coexisting diseases to improve clinical outcomes.
-
Clinicians must be skeptical. They should not fall into the trap of diagnostic momentum or accept diagnostic labels at face value. Regardless of the potential mechanisms, clinicians should be aware of the possibility of the coexistence of thyroid cancer and sarcoidosis as a differential diagnosis of lymphadenopathy.
-
This case highlights the importance of the diagnostic and therapeutic planning process and raises awareness of the fact that one uncommon disease could be masked by another extremely rare disorder.
Specialist Medicine, Manchester University Foundation Trust, Manchester, UK
Search for other papers by Ellena Cotton in
Google Scholar
PubMed
Search for other papers by David Ray in
Google Scholar
PubMed
Summary
A young woman carrying germline DICER1 mutation was discovered to have a pituitary microprolactinoma when she became amenorrhoic. The mutation was identified as a result of family screening following the early death of the patient’s daughter with ovarian cancer. The patient was in follow-up screening for thyroid disease, and investigations were initiated when she became amenorrhoic. MR scan revealed a 6 mm diameter pituitary microadenoma and raised prolactin. The prolactin was efficiently suppressed with low-dose cabergoline, and her menstrual cycles resumed. Dicer is an RNase enzyme, which is essential for processing small non-coding RNAs. These molecules play pleiotropic roles in regulating gene expression, by targeting mRNA sequences for degradation. DICER1 plays different roles depending on cell context, but is thought to be a functional tumour suppressor gene. Accordingly, germline mutation in one DICER1 allele is insufficient for oncogenesis, and a second hit on the other allele is required, as a result of postnatal somatic mutation. Loss of DICER1 is linked to multiple tumours, with prominent endocrine representation. Multinodular goitre is frequent, with increased risk of differentiated thyroid cancer. Rare, developmental pituitary tumours are reported, including pituitary blastoma, but not reports of functional pituitary adenomas. As DICER1 mutations are rare, case reports are the only means to identify new manifestations and to inform appropriate screening protocols.
Learning points:
-
DICER1 mutations lead to endocrine tumours.
-
DICER1 is required for small non-coding RNA expression.
-
DICER1 carriage and microprolactinoma are both rare, but here are reported in the same individual, suggesting association.
-
Endocrine follow-up of patients carrying DICER1 mutations should consider pituitary disease.
