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BMC Endocrine Disorders Oct 2019Medullary thyroid carcinoma is a malignant uncommon and aggressive tumour of the parafollicular C cells. In about 75% of cases it is sporadic while, in case of RET... (Review)
Review
BACKGROUND
Medullary thyroid carcinoma is a malignant uncommon and aggressive tumour of the parafollicular C cells. In about 75% of cases it is sporadic while, in case of RET mutation, it is associated to multiple endocrine neoplasia type 2 (25% of cases). The biochemical features of medullary thyroid carcinoma include the production of calcitonin and carcinoembryogenic antigen. The above-mentioned features are useful in the diagnostic process as well as in the follow up and in the prognostication of the disease. Even if calcitonin elevation is strongly associated to MTC, it can also be found increased in many pathological different conditions as pregnancy, lactation, C-cells hyperplasia, autoimmune thyroiditis, end stage renal disease, lung and prostate cancer and several neuroendocrine tumours. Major medullary thyroid tumours are usually connected to high doses of circulating calcitonin, in fact non-secretory variants have hardly been described.
CASE PRESENTATION
We herein report the case of a 59 years old male, who had undergone total thyroidectomy for multinodular goiter with negative preoperative calcitonin, showing medullary thyroid carcinoma at definitive pathology. To the best of our knowledge, this is the first case documenting a non-secretory medullary thyroid carcinoma, with double negative markers at the time of diagnosis and at the relapse.
CONCLUSION
A Literature review underlining pathological hypothesis, differential diagnosis and alternative and innovative biomarkers to identify non-secretory medullary thyroid carcinoma was carried out.
Topics: Biomarkers, Tumor; Calcitonin; Carcinoembryonic Antigen; Carcinoma, Neuroendocrine; Diagnosis, Differential; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Prognosis; Thyroid Neoplasms; Thyroidectomy
PubMed: 31619220
DOI: 10.1186/s12902-019-0435-7 -
Iranian Biomedical Journal May 2018Medullary thyroid carcinoma (MTC) is an infrequent, calcitonin producing neuroendocrine tumor and initiates from the parafollicular C cells of the thyroid gland. Several...
Medullary thyroid carcinoma (MTC) is an infrequent, calcitonin producing neuroendocrine tumor and initiates from the parafollicular C cells of the thyroid gland. Several genetic and epigenetic alterations are collaterally responsible for medullary thyroid carcinogenesis. In this review article, we shed light on all the genetic and epigenetic hallmarks of MTC. From the genetic perspective, RET, HRAS, and KRAS are the most important genes that are characterized in MTC. From the epigenetic perspective, Ras-association domain family member 1A, telomerase reverse transcriptase promoter methylations, overexpression of histone methyltransferases, EZH2 and SMYD3, and wide ranging increase and decrease in non-coding RNAs can be responsible for medullary thyroid carcinogenesis.
PubMed: 29126344
DOI: 10.22034/ibj.22.3.142 -
Journal of Family Medicine and Primary... Sep 2023Global breast cancer incidence is increasing at an annual rate of 3·1%. Female breast cancer has surpassed lung cancer as the most commonly diagnosed cancer, with an...
BACKGROUND
Global breast cancer incidence is increasing at an annual rate of 3·1%. Female breast cancer has surpassed lung cancer as the most commonly diagnosed cancer, with an estimated 2.3 million new cases (11.7%). However, the data from different parts of India are still lacking and the study was conducted to assess the burden of disease at tertiary referral centers in central India.
MATERIAL AND METHODS
Retrospective record analysis (June 2013-June 2017) of data from outdoor clinics and pathology reports. The patients aged <15 yrs, nonresidence of Chhattisgarh, and diagnosed outside the study period were excluded. The triple assessment was used to diagnose all breast lumps (sensitivity 99%).
RESULTS
Eighty patients were diagnosed having breast carcinoma. The mean age for breast cancer was 39 ± 3.028 years (ranged 31-50 years). Twenty patients had locally advanced breast carcinoma. The predominant religion was Hindu 55.00%. The referral pathway to seek medical care for breast cancer was via a gynecologist in 40% (32/80). Familial breast cancers were in 0.03% (3/80) of patients. None breast cancer patients have previous histology-proven benign breast disease. The mean size of the breast cancer lump was 3.56 cm (ranged 1.0-11.0 cm). Overlying skin ulceration ( = 2), skin infiltration/peau-d'- orange ( = 2), skin tethering ( = 4), and bloody nipple discharge were found in one patient. Breast cancer was diagnosed during lactation (postnatal period) in one patient. The maximum number of patients have tumor size >5 cm (72.6%). Immunohistochemistry and pathological analysis was done on core biopsy ( = 20) and surgical procedure ( = 60). Modified radical mastectomy was done in 52, breast conservative surgery with Sentinal Lymph node biopsy and axillary lymph node dissection in 6, and toilet mastectomy in two patients. The predominant tumors were solid ( = 79/80), with both solid and cystic types (1/80). The solid and cystic lesion on FNAC was of C3b type, and an excision biopsy revealed medullary carcinoma of the breast. Invasive ductal carcinoma-no special type (IDC-NST) was observed to be the most common histopathologic type ( = 70/80), followed by medullary carcinoma ( = 2), metaplastic carcinoma ( = 1), papillary carcinoma ( = 4), Paget disease with DCIS ( = 1), mucinous carcinoma ( = 1), invasive lobular carcinoma ( = 1). One male patient with breast cancer and two female patient having bilateral breast cancer also have IDC-NST.Scarff Bloom Richardson Grade was predominantly graded 2 in 46.25% (37/80) of breast cancer patients (Grade 1 = 9, Grade 2 = 37, Grade 3 = 34). Lymphovascular (LVI) and perineural invasion (PNI) were predominantly without LVI and PVI. (Lymphovascular present and perineural invasion present = 4, Lymphovascular present and perineural invasion absent = 32, Lymphovascular absent and perineural invasion absent = 42, Lymphovascular absent and perineural invasion present = 2). Histological examination of axillary lymph nodes showed the presence of malignant cells in all. Triple-negative breast carcinoma was 26.58% (21/79). Most breast cancer presented at stage II A = 37.5% (30/80) and II B = 28.7% (23/80) of the AJCC staging system.
CONCLUSION
The clinico-epidemio and histological profile of breast cancer in Chhattisgarh is similar to other parts of India. Scarff Bloom Richardson Grade was predominantly grade 2 in 46.25% (37/80) contrary to Grade III (70%) in other series from India.
PubMed: 38024932
DOI: 10.4103/jfmpc.jfmpc_2315_22 -
Annals of the Royal College of Surgeons... Mar 2020Calcitonin-negative medullary thyroid carcinoma is a rare, poorly understood primary neuroendocrine carcinoma of the thyroid characterised by classic medullary thyroid...
Calcitonin-negative medullary thyroid carcinoma is a rare, poorly understood primary neuroendocrine carcinoma of the thyroid characterised by classic medullary thyroid carcinoma morphology without raised serum calcitonin. A 24-year-old woman presented with a slow-growing, right-sided neck swelling. She underwent an ultrasound scan, cytopathological and histopathological examination, and tests for alternative diagnoses. The ultrasound showed a heterogeneous, hyperechoic nodule in the right thyroid lobe. Serum calcitonin was normal. Cytopathology and histopathology showed typical medullary thyroid carcinoma morphology but without calcitonin upon immunostaining and mRNA in situ hybridisation. A 'triple-negative' calcitonin-negative medullary thyroid carcinoma was diagnosed. A completion thyroidectomy with bilateral central lymph node dissection was performed. The patient remains well three-years post-surgery. When cytopathology suggests a medullary thyroid carcinoma, serum calcitonin, pro-calcitonin, carcinoembryonic antigen and calcitonin-gene-related peptide should be measured to identify cases of calcitonin-negative medullary thyroid carcinoma. They should also be measured post-treatment for monitoring purposes. This will aid future calcitonin-negative medullary thyroid carcinoma diagnoses and will inform prognostic stratification and influence treatment decisions.
Topics: Biomarkers, Tumor; Biopsy; Calcitonin; Carcinoma, Neuroendocrine; Female; Humans; Phenotype; Thyroid Gland; Thyroid Neoplasms; Thyroidectomy; Tomography, X-Ray Computed; Ultrasonography; Young Adult
PubMed: 31841033
DOI: 10.1308/rcsann.2019.0153 -
Nigerian Journal of Clinical Practice Apr 2023Thyroid carcinomas are the most common malignant endocrine tumors, and various immunohistochemical markers are tested in routine practice to reduce diagnostic...
BACKGROUND
Thyroid carcinomas are the most common malignant endocrine tumors, and various immunohistochemical markers are tested in routine practice to reduce diagnostic differences, as well as to elucidate carcinogenesis and detect malignancy. Disruption of basement membranes and the extracellular matrix is an important step in tumor carcinogenesis and progression. The claudin and matrix metalloproteinase families are also thought to be effective in this process.
AIM
In this retrospective study, the comparative expression of claudin-1 and MMP-7 immunomarkers in normal tissues and thyroid neoplasia were investigated.
MATERIALS AND METHODS
Immunohistochemical staining was performed for claudin-1 and matrix metalloproteinase 7 (MMP-7) in 112 sections, including 24 follicular adenomas, 22 follicular carcinomas, 24 medullary carcinomas, 24 papillary carcinomas, and 18 single dominant nodules from thyroid lesions.
RESULTS
A significant staining difference for claudin-1 was observed in follicular carcinoma and medullary carcinoma, papillary carcinoma, and single dominant nodules compared to normal thyroid tissue. A statistically significant staining difference was observed for MMP-7 in follicular adenoma, medullary carcinoma, and papillary carcinoma compared to normal thyroid tissue.
CONCLUSIONS
These results indicate that claudin-1 and MMP-7 are important in the diagnosis, differential diagnosis, and carcinogenesis of follicular adenoma, follicular carcinoma, medullary carcinoma, papillary carcinoma, and single dominant nodules.
Topics: Humans; Thyroid Gland; Claudin-1; Carcinoma, Papillary; Matrix Metalloproteinase 7; Retrospective Studies; Thyroid Neoplasms; Adenoma; Carcinogenesis; Biomarkers, Tumor
PubMed: 37203104
DOI: 10.4103/njcp.njcp_440_22 -
International Journal of Surgery Case... Apr 2022The synchronous development of a medullary and papillary carcinoma as two different tumors has only been reported very rarely. The aim of the current report is to...
Synchronous occurrence of papillary thyroid microcarcinoma, medullary thyroid carcinoma and Hashimoto thyroiditis in a single thyroid: A case report with literature review.
INTRODUCTION
The synchronous development of a medullary and papillary carcinoma as two different tumors has only been reported very rarely. The aim of the current report is to describe an extremely rare occurrence of medullary carcinoma, papillary microcarcinoma, and Hashimoto thyroiditis.
CASE REPORT
A 53-year-old man presented with a right-sided neck mass. Ultrasound showed a well-defined nodule in the right mid third with microcalcification and increased nodular vascularity associated with multiple right-sided cervical lymphadenopathy. The histopathological examination showed multifocal medullary carcinoma with incidental finding of unifocal papillary microcarcinoma conventional type on the left side. Additional pathology of Hashimoto thyroiditis with a small intra-thyroidal parathyroid gland in the left thyroid gland. The procedure went perfectly and the patient was discharged home without any difficulties.
DISCUSSION
Synchronous existence of these two neoplasms can occur in two forms: distinct medullary carcinoma and papillary carcinoma isolated by normal thyroid tissue, or mixed medullary and follicular-derived thyroid carcinoma, in which single or multiple lesions show morphology and immunoreactivity for both medullary carcinoma and follicular-derived carcinoma.
CONCLUSION
The synchronous coexistence of papillary microcarcinoma, medullary carcinoma, and Hashimoto's thyroiditis is an uncommon thyroid condition.
PubMed: 35318184
DOI: 10.1016/j.ijscr.2022.106888 -
Cancer Biomarkers : Section a of... 2020SMARCB1 is a tumor suppressor gene, which is part of SWI/SNF complex involved in transcriptional regulation. Recently, loss of SMARCB1 expression has been reported in...
SMARCB1 is a tumor suppressor gene, which is part of SWI/SNF complex involved in transcriptional regulation. Recently, loss of SMARCB1 expression has been reported in gastrointestinal carcinomas. Our purpose was to evaluate the incidence and prognostic value of SMARCB1 loss in colon carcinoma (CC). Patients with stage III CC (n= 1695), and a second cohort of 23 patients with poorly differentiated CC were analyzed. Immunohistochemistry for SMARCB1 was performed on tissue microarrays, and cases with loss of expression were controlled on whole sections. Loss of SMARCB1 was compared with the clinico-pathological and molecular characteristics, and the prognostic value was evaluated. Loss of SMARCB1 was identified in 12 of 1695 (0.7%) patients with stage III CC. Whole section controls showed a complete loss in only one of these cases, corresponding to a medullary carcinoma. SMARCB1 loss was not associated with histological grade, tumor size nor survival. In the cohort of poorly differentiated CC, we detected 2/23 (8.7%) cases with loss of SMARCB1; one was rhabdoid while the other had medullary and mucinous histology. These 2 cases were deficient for MisMatched Repair (dMMR) and mutated for BRAF. SMARCB1 loss is rare in stage III CC, but appears more frequent in poorly differentiated CC.
Topics: Adult; Aged; Colonic Neoplasms; Female; Humans; Immunohistochemistry; Male; Middle Aged; Neoplasm Staging; SMARCB1 Protein; Young Adult
PubMed: 32083567
DOI: 10.3233/CBM-190287 -
Clinical Case Reports Jun 2023The occurrence of simultaneous multifocal papillary thyroid carcinoma and mixed medullary-papillary carcinoma, as far as we know, has not been previously described. We...
KEY CLINICAL MESSAGE
The occurrence of simultaneous multifocal papillary thyroid carcinoma and mixed medullary-papillary carcinoma, as far as we know, has not been previously described. We suggest the surgical approach to be driven by the medullary component.
ABSTRACT
Patient underwent total thyroidectomy with central compartment lymph node dissection. Histological examination revealed a simultaneous multifocal papillary thyroid carcinoma and mixed medullary-papillary carcinoma. He was disease-free at 1-year-follow-up.
PubMed: 37261397
DOI: 10.1002/ccr3.7433 -
Diagnostics (Basel, Switzerland) Mar 2022The study is aimed to evaluate the diagnostic and prognostic role of the immunohistochemical expression of the Caudal-type homeobox transcription factor 2 (CDX2) in...
The study is aimed to evaluate the diagnostic and prognostic role of the immunohistochemical expression of the Caudal-type homeobox transcription factor 2 (CDX2) in colorectal cancers (CRCs) through a meta-analysis. By searching relevant databases, 38 articles were eligible to be included in this study. We extracted the information for CDX2 expression rates and the correlation between CDX2 expression and clinicopathological characteristics. The estimated rates of CDX2 expression were 0.882 [95% confidence interval (CI) 0.774−0.861] and 0.893 (95% CI 0.820−0.938) in primary and metastatic CRCs, respectively. Furthermore, based on their histologic subtype, CDX2 expression rates of adenocarcinoma and medullary carcinoma were 0.886 (95% CI 0.837−0.923) and 0.436 (95% CI 0.269−0.618), respectively. There was a significant difference in CDX2 expression rates between adenocarcinoma and medullary carcinoma in the meta-regression test (p < 0.001). In addition, CDX2 expression was significantly lower in CRCs with the BRAFV600E mutation than in CRCs without mutation. Patients with CDX2 expression had better overall and cancer-specific survival rates than those without CDX2 expression. Thus, CDX2 is a useful diagnostic and prognostic marker CRCs.
PubMed: 35328309
DOI: 10.3390/diagnostics12030757 -
Scientific Reports May 2024Medullary Carcinoma of the Colon (MCC) is a rare histological subtype of colon cancer, and there is currently no recognized optimal treatment plan for it, with its...
Medullary Carcinoma of the Colon (MCC) is a rare histological subtype of colon cancer, and there is currently no recognized optimal treatment plan for it, with its prognosis remaining unclear. The aim of this study is to analyze the independent prognostic factors for MCC patients and develop and validate nomograms to predict overall survival (OS). A total of 760 patients newly diagnosed with MCC from 2004 to 2020 were selected from the Surveillance, Epidemiology, and End Results (SEER) database. All patients were randomly allocated to a training group and a validation group in a 7:3 ratio. Univariate and multivariable Cox regression analyses were conducted to identify prognostic factors and construct nomograms. The nomogram prediction model was evaluated and validated using receiver operating characteristic (ROC) curves, calibration curves, and decision curve analysis (DCA). The study found that elderly women are more susceptible to MCC, and the ascending colon and cecum are the most common sites of involvement. MCC is poorly differentiated, with stages II and III being the most common. Surgery is the primary treatment for MCC. The prognosis for patients with stage IV MCC is poor, with a median survival time of only 10 months. Independent prognostic factors for MCC include age, N stage, M stage, surgery, chemotherapy, and tumor size. Among them, age < 75 years and completion of chemotherapy were protective factors for colon medullary carcinoma, while N2 (HR = 2.18, 95%CI 1.40-3.38), M1 (HR = 3.31, 95%CI 2.01-5.46), no surgery (HR = 27.94, 95%CI 3.69-211.75), and tumor diameter > 7 cm (HR = 1.66, 95%CI 1.20-2.30) were risk factors for colon medullary carcinoma. The results of ROC, AUC, calibration curves, and DCA demonstrate that the nomogram prediction model exhibits good predictive performance. We have updated the demographic characteristics of colon medullary carcinoma and identified age, N staging, M staging, surgery, chemotherapy and tumor size as independent prognostic factors for colon medullary carcinoma. Additionally, we have established nomograms for prognostic prediction. These nomograms can provide personalized predictions and serve as valuable references for clinical decision-making.
Topics: Humans; Nomograms; Female; Male; Colonic Neoplasms; SEER Program; Aged; Middle Aged; Risk Factors; Prognosis; Carcinoma, Medullary; Neoplasm Staging; ROC Curve; Adult
PubMed: 38763982
DOI: 10.1038/s41598-024-61354-2