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Archives of Pathology & Laboratory... Dec 2019Renal medullary carcinoma, also referred to as the seventh sickle cell nephropathy, typically affects young African Americans with sickle cell trait, or, less... (Review)
Review
Renal medullary carcinoma, also referred to as the seventh sickle cell nephropathy, typically affects young African Americans with sickle cell trait, or, less frequently, patients with sickle cell disease. The existence of renal medullary carcinoma without a concomitant hemoglobinopathy is a topic of controversy. The typical patient is a young male of African or Mediterranean descent, with hematuria and/or flank pain. Most patients have metastatic disease at the time of presentation. The tumor is characteristically a poorly circumscribed mass in the medullary region, commonly showing variable amounts of hemorrhage and necrosis. Microscopically, a characteristic reticular or cribriform pattern with a striking desmoplastic stromal response and a robust mixed inflammatory infiltrate is observed. Collecting duct carcinoma, malignant rhabdoid tumor, urothelial carcinoma, and other subtypes of renal cell carcinoma are in the differential diagnosis. Because of the advanced stage of disease at presentation and the aggressive nature of this malignant neoplasm, survival is poor even with chemotherapy; however, isolated reports of prolonged survival have been documented.
Topics: Anemia, Sickle Cell; Carcinoma, Medullary; Carcinoma, Renal Cell; Humans; Sickle Cell Trait
PubMed: 30855171
DOI: 10.5858/arpa.2017-0492-RS -
Expert Review of Anticancer Therapy 2023Medullary thyroid carcinoma (MTC) constitutes approximately 5-10% of all thyroid cancers. Although the tumor forms in the thyroid, it doesn't originate from thyroid... (Review)
Review
INTRODUCTION
Medullary thyroid carcinoma (MTC) constitutes approximately 5-10% of all thyroid cancers. Although the tumor forms in the thyroid, it doesn't originate from thyroid cells, but from the C cells or parafollicular cells which produce and release a hormone called calcitonin (CT). Starting from the second half of the 1900s, MTC was progressively studied and defined.
AREAS COVERED
This study aims to analyze the history, clinical presentation and biological behavior of MTC, bio-humoral and instrumental diagnosis, molecular profiling, genetic screening, preoperative staging and instrumental procedures, indispensable in expert and dedicated hands, such as high-resolution ultrasonography, CT-scan, MRI and PET/TC. We examine recommended and controversial surgical indications and procedures, prophylactic early surgery and multiple endocrine neoplasia surgery. Also, we discuss pathological anatomy classification and targeted therapies. The role of serum CT is valued both as undisputed and constant preoperative diagnostic marker, obscuring cytology and as early postoperative marker that predicts disease persistence.
EXPERT OPINION
With a complete preoperative study, unnecessary or useless, late and extended interventions can be reduced in favor of tailored surgery that also considers quality of life. Finally, great progress has been made in targeted therapy, with favorable impact on survival.
Topics: Humans; Carcinoma, Medullary; Quality of Life; Thyroidectomy; Thyroid Neoplasms
PubMed: 37646181
DOI: 10.1080/14737140.2023.2247566 -
The Journal of International Medical... Jul 2022Medullary thyroid carcinoma (MTC) is an uncommon malignancy of neuroendocrine origin derived from the parafollicular C cells. Although infrequent, the interest in this... (Review)
Review
Medullary thyroid carcinoma (MTC) is an uncommon malignancy of neuroendocrine origin derived from the parafollicular C cells. Although infrequent, the interest in this cancer exceeds its incidence owing to its distinctive features and its characteristic association with other endocrine tumors. Although the majority of MTCs are sporadic, hereditary varieties occur in isolation or as a part of multiple endocrine neoplasia type 2 syndrome (MEN 2). Currently, complete surgical resection of the tumor and nodal metastases with a curative intent remains the mainstay of therapy. The role of adjuvant therapy is limited, although radiotherapy and newer targeted therapies are routinely used for metastatic disease. The lack of consensus in the available guidance regarding the most appropriate diagnostic, therapeutic and follow-up strategies has caused substantial variability in clinical practice. Therefore, this review summarizes the latest available evidence and guidelines on the management of MTC with an emphasis on diagnosis, surgical treatment and follow-up.
Topics: Carcinoma, Medullary; Carcinoma, Neuroendocrine; Humans; Multiple Endocrine Neoplasia Type 2a; Thyroid Neoplasms
PubMed: 35822284
DOI: 10.1177/03000605221110698 -
Current Urology Reports Jan 2019We present an updated report of renal medullary carcinoma (RMC), a rare and aggressive condition. (Review)
Review
PURPOSE OF THE REVIEW
We present an updated report of renal medullary carcinoma (RMC), a rare and aggressive condition.
RECENT FINDINGS
There is a majority of male patients, of African descent, in the second or third decade of life. In differential diagnosis, other tumors, such as malignant rhabdoid tumor (MRT), vinculin-anaplastic lymphoma kinase (VCL-ALK) translocation renal cell carcinoma, and collecting duct carcinoma, may present difficulties. Abnormalities of tumor suppressor gene SMARCB1 have been found in RMC. Reported symptoms were hematuria, pain, weight loss, respiratory distress, palpable mass, cough, and fever. Most patients present with metastases at diagnosis. There is no definite recommended treatment, and protocols are extrapolated from other malignancies, with nephrectomy and systemic therapies being most frequently used. Response to treatment and prognosis remain very poor. RMC is a rare and aggressive tumor. Definitive diagnosis requires histological assessment and the presence of sickle-cell hemoglobinopathies.
Topics: Age Distribution; Anemia, Sickle Cell; Carcinoma, Medullary; Chemotherapy, Adjuvant; Diagnosis, Differential; Hemoglobinopathies; Humans; Kidney Neoplasms; Nephrectomy; Prognosis; Radiotherapy, Adjuvant; Rare Diseases; Sex Distribution
PubMed: 30656488
DOI: 10.1007/s11934-019-0865-9 -
Endocrine Practice : Official Journal... 2013This review outlines advances in the diagnosis, genetic testing, and progress in medullary thyroid cancer (MTC) treatment in light of the most recent evidence. (Review)
Review
OBJECTIVE
This review outlines advances in the diagnosis, genetic testing, and progress in medullary thyroid cancer (MTC) treatment in light of the most recent evidence.
METHODS
English-language articles pertaining to MTC published up to 2012 were reviewed. The pertinent articles and their references were obtained and those considered relevant were reviewed for inclusion.
RESULTS
MTC is an uncommon neuroendocrine malignancy that accounts for 5% of thyroid cancers. MTC presents in sporadic and familial forms (multiple endocrine neoplasia [MEN] 2A, MEN 2B, or familial MTC syndromes). The familial forms are secondary to germline mutations in the REarranged during Transfection (RET) proto-oncogene. Early diagnosis and treatment is paramount. Genetic testing has made possible early detection in asymptomatic carriers and high-risk patients, with early or prophylactic surgery being curative in many. All carriers of an RET mutation should be evaluated and treated surgically for MTC. The primary treatment in all patients diagnosed with MTC is total thyroidectomy with central lymph node dissection. Calcitonin and carcinoembryonic antigen levels can be used as prognostic factors and as tumor markers. If elevated, further investigation, including use of imaging modalities, may be necessary for evaluation of metastatic disease. Surgery remains the main treatment for local and locally advanced disease.
CONCLUSION
MTC is rare, but morbidity and mortality remain high if untreated. Genetic testing should be offered to all patients. Treatment of choice remains total thyroidectomy and central lymph node dissection. Palliative treatment for advanced disease includes surgery, radiation, standard chemotherapy, chemoembolization and more recently, targeted therapies (tyrosine kinase inhibitors).
Topics: Biomarkers, Tumor; Calcitonin; Carcinoma, Medullary; Humans; Multiple Endocrine Neoplasia Type 2a; Proto-Oncogene Mas; Thyroid Neoplasms
PubMed: 23512389
DOI: 10.4158/EP12430.RA -
Experimental Oncology Jun 2008More then half a million cases each year makes breast cancer the most common malignancy in female. Medullary breast carcinoma (MBC) is a type of invasive ductal breast... (Review)
Review
More then half a million cases each year makes breast cancer the most common malignancy in female. Medullary breast carcinoma (MBC) is a type of invasive ductal breast carcinoma that usually has favorable prognosis and is characterized by the high graded structure, high mitotic rate and heavy lymphoid infiltration. The last feature makes MBC an attractive subject for detailed studies in respect to development of novel immunological approaches for cancer treatment. In this review we have summarized the data on MBC morphology, antigenic repertoire and molecular biology features. The aim of this review was to illuminate the unique biological features and to outline theoretical basis for further investigations of MBC.
Topics: Animals; Antigens; Antigens, Neoplasm; Breast Neoplasms; Carcinoma, Medullary; HLA Antigens; Humans; Immunotherapy; Lymphatic Metastasis; Lymphocytes; Neoplasm Metastasis; Neoplasms; Prognosis
PubMed: 18566570
DOI: No ID Found -
Hematology/oncology Clinics of North... Jun 2007Medullary thyroid carcinoma is a neuroendocrine tumor derived from the C cells of the thyroid gland and accounts for approximately 5% of all thyroid carcinomas.... (Review)
Review
Medullary thyroid carcinoma is a neuroendocrine tumor derived from the C cells of the thyroid gland and accounts for approximately 5% of all thyroid carcinomas. Approximately 30% of the cases are associated with an autosomal dominant syndrome called multiple endocrine neoplasia type 2, and the identification of these individuals is important because affected family members may benefit from an early diagnosis. The treatment of this disease is predominantly surgical, and the impact of radiotherapy and chemotherapy is limited. The identification of the associated molecular events has lead to the development of specific molecular targeted agents that may change the way this disease is treated in the near future.
Topics: Carcinoma, Medullary; Humans; Multiple Endocrine Neoplasia Type 2a; Neoplasm Staging; Thyroid Neoplasms
PubMed: 17548035
DOI: 10.1016/j.hoc.2007.04.002 -
Journal of Oncology Practice Jul 2017Although renal medullary carcinoma (RMC) is a rare subtype of kidney cancer, it is particularly devastating in that it is nearly uniformly lethal. No established... (Review)
Review
Although renal medullary carcinoma (RMC) is a rare subtype of kidney cancer, it is particularly devastating in that it is nearly uniformly lethal. No established guidelines exist for the diagnosis and management of RMC. In April 2016, a panel of experts developed clinical guidelines on the basis of a literature review and consensus statements. The goal was to propose recommendations for standardized diagnostic and management approaches and to establish an international clinical registry and biorepository for RMC. Published data are limited to case reports and small retrospective reviews. The RMC Working Group prepared recommendations to inform providers and patients faced with a low level of medical evidence. The diagnosis of RMC should be considered in all patients younger than 50 years with poorly differentiated carcinoma that arises from the renal medulla. These patients should be tested for sickle cell hemoglobinopathies, and if positive, SMARCB1/INI1 loss should be confirmed by immunohistochemistry. The majority of patients with RMC are diagnosed with metastatic disease. Upfront radical nephrectomy should be considered in patients with good performance status and low metastatic burden or after response to systemic therapy. Currently, cytotoxic, platinum-based chemotherapy provides the best, albeit brief, palliative clinical benefit. Vascular endothelial growth factor-directed therapies and mammalian target of rapamycin inhibitors are ineffective in RMC as monotherapy. Therapeutic trials of novel agents are now available for RMC, and every effort should be made to enroll patients in clinical studies.
Topics: Anemia, Sickle Cell; Carcinoma, Medullary; Humans; Kidney Neoplasms; Practice Guidelines as Topic; Registries
PubMed: 28697319
DOI: 10.1200/JOP.2017.020909 -
Human Pathology Jul 2016Medullary carcinoma (MC) is a very rare variant of colorectal carcinoma (CRC). Its clinicopathologic findings are not fully elucidated. The aim of this study was to... (Meta-Analysis)
Meta-Analysis Review
Medullary carcinoma (MC) is a very rare variant of colorectal carcinoma (CRC). Its clinicopathologic findings are not fully elucidated. The aim of this study was to investigate the clinicopathological characteristics of MC in the colorectum through a systematic review and meta-analysis. The meta-analysis examined the incidence, age, sex, site, mismatch repair deficiency (MMRd), MMR protein expression, ARID1A expression, BRAF(V600E) mutation, KRAS mutation, and survival rate of MC. The 21469 CRCs included 462 MCs in 16 eligible studies, representing an estimated incidence of MC of 0.027 (95% confidence interval [CI] 26 0.016-0.045). MC frequently occurred in female patients and in the right colon. Lymph node metastasis of MC was significantly lower than that of poorly differentiated adenocarcinoma/undifferentiated adenocarcinoma (PDA/UDA). In addition, MC had a higher MMRd rate (0.892, 95% CI 0.758-0.956), higher BRAF(V600E) mutation rate (0.652, 95% CI 0.143-0.954) and lower KRAS mutation rate (0.171, 95% CI 0.065-0.378) than PDA/UDA and conventional adenocarcinoma. Patients with MC had significantly better overall survival rate compared to patients with PDA/UDA (hazard ratio 0.441, 95% CI 0.262-0.742). However, there was no significant difference of overall survival rate between MC and conventional adenocarcinoma patients. MC predominantly occurred in females and in the right colon, and had different molecular characteristics and behaviors compared to PDA/UDA and conventional adenocarcinoma.
Topics: Adenocarcinoma; Age Distribution; Biomarkers, Tumor; Carcinoma, Medullary; Cell Differentiation; Colorectal Neoplasms; Female; Genetic Predisposition to Disease; Humans; Incidence; Lymphatic Metastasis; Male; Phenotype; Risk Factors; Sex Distribution; Survival Analysis; Time Factors
PubMed: 27001432
DOI: 10.1016/j.humpath.2016.02.018 -
Journal of the National Comprehensive... May 2010
Topics: Calcitonin; Carcinoma, Medullary; Humans; Postoperative Care; Radiotherapy, Adjuvant; Thyroid Neoplasms; Thyroidectomy; United States
PubMed: 20495082
DOI: 10.6004/jnccn.2010.0040