- StatPearls [BOOK]
- BOOKStatPearls Publishing: Treasure Island (FL)
- Turcot syndrome (TS) is the association of primary brain tumors to colorectal cancer. Various definitions of Turcot (pronounced with a silent "t," i.e., Turc-oh) syndrome were proposed over the years...
Turcot syndrome (TS) is the association of primary brain tumors to colorectal cancer. Various definitions of Turcot (pronounced with a silent "t," i.e., Turc-oh) syndrome were proposed over the years. Jacques Turcot, a Canadian surgeon, who was among the first to draw attention to the syndrome, defined it as colorectal cancer (CRC) with primary brain tumors. He observed the syndrome in teenage siblings, who presented with a few polyps in the colon, followed by a primary central nervous system (CNS) tumor (a medulloblastoma and a pituitary adenoma, in his case). They had no family history of the syndrome, but their parents were third cousins, leading to the thought that it may be an inherited autosomal recessive disease. Upon genetic analysis of these siblings in 1995 by Hamilton et al., a biallelic mismatch repair (MMR) gene mutation was found. It is now well-known that the coupling of CRC and brain tumors can present secondary to a number of different genotypes. There have been attempts to reclassify TS as mismatch repair cancer syndrome (MMRCS) or rename it as brain-tumor polyposis syndrome 1 and 2 (BTPS1 and BTPS2). These syndromes suggest a focus on defining the syndrome by the genetic presentation, involving findings in addition to CRC and primary brain tumors, such as cafe-au-lait spots, hematologic malignancies, among others. However, the original definition of TS is restricted to the phenotypic presentation of solely CRC plus primary brain tumors. Thus, it is now common to see TS1 and TS2, meaning CRC with primary CNS tumor secondary to either MMR gene mutations or APC gene mutations, respectively. BTPS is commonly used as a synonym to TS today, though BTPS is an expanded version which includes additional symptoms mentioned in this paper. Hereditary non-polyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP) are the 2 most well-known inherited colorectal cancers. HNPCC is associated with mismatch repair (MMR) gene mutations. FAP is associated with an APC gene mutation. HNPCC is generally associated with Lynch syndrome. Gardner syndrome is associated with FAP. If a brain tumor arises in a patient with either HNPCC or FAP, then the patient is considered to have TS1 or TS2, respectively, although the association with either of these inherited mutations is not necessary.
- Ring chromosome 15 - cytogenetics and mapping arrays: a case report and review of the literature. [Journal Article]
- JMJ Med Case Rep 2018 Nov 16; 12(1):340
- CONCLUSIONS: Despite the frequency of some phenotypes expressed in the different clinical cases reviewed and the present case, a common phenotype for patients with ring 15 could not be determined and it is restricted to the region of the chromosome lost during the ring formation.
- Coexistence of neurofibromatosis type 1 with multiple malignant neoplasia. [Journal Article]
- NENeuro Endocrinol Lett 2018 Sep 04; 39(3):149-155
- Neurofibromatosis type 1 (NF1, von Recklinghausen disease) is inherited in autosomal dominant way genetic disorder, with an incidence at birth 1:3000. It is one of the most common congenital disorder...
Neurofibromatosis type 1 (NF1, von Recklinghausen disease) is inherited in autosomal dominant way genetic disorder, with an incidence at birth 1:3000. It is one of the most common congenital disorders. It is characterized by café-au-lait spots, neurofibromas, and less common MPTST and gliomas of the optic nerve. It is caused by germline mutations of the NF1 gene, which acts as tumor suppressor. Inactivation of the gene leads to increased activation of the kinase pathways, and in consequence, uncontrolled proliferation of cells. The disease predisposes to the development of both benign and malignant tumors. Malignant tumors, but not related to the nervous system occur in neurofibromatosis quite rare. The aim of the study is a literature review of NF1, with presentation of a patient with NF1 and coexisting numerous tumors: synchronous somatostatinoma and gastrointestinal stromal tumor with metachronous prostate adenocarcinoma and non-small cell lung carcinoma. And attempt to answer the question if there is a common pathway for oncogenesis of these four tumors.
- Asymptomatic Gastric Giant Polyp in a Boy with Peutz-Jeghers Syndrome Presented with Multiple Café Au Lait Traits. [Journal Article]
- CRCase Rep Surg 2018; 2018:6895974
- We describe an asymptomatic case of PJS in a six-year-old boy with café au lait spots in several parts of his body, a large gastroduodenal polyp, two polyps near the ampulla of Vater, and another in ...
We describe an asymptomatic case of PJS in a six-year-old boy with café au lait spots in several parts of his body, a large gastroduodenal polyp, two polyps near the ampulla of Vater, and another in the jejunum. This patient shows some unique aspects of PJS. No other such large gastric polyp in a Peutz-Jeghers child is reported in the literature. The large size of the gastric polyp with lack of symptoms is unusual and poses a unique challenge in terms of management and surgical resection.
- Gastrointestinal juvenile-like (inflammatory/hyperplastic) mucosal polyps in neurofibromatosis type 1 with no concurrent genetic or clinical evidence of other syndromes. [Journal Article]
- VAVirchows Arch 2018 Oct 01
- Gastrointestinal "juvenile-like (inflammatory/hyperplastic) mucosal polyps" (JLIHMPs) have been proposed as a neurofibromatosis type 1 (NF1)-specific gastrointestinal manifestation. Juvenile polyposi...
Gastrointestinal "juvenile-like (inflammatory/hyperplastic) mucosal polyps" (JLIHMPs) have been proposed as a neurofibromatosis type 1 (NF1)-specific gastrointestinal manifestation. Juvenile polyposis syndrome (JPS) has also been reported in a NF1 patient, harboring concurrent NF1 and SMAD4 germline mutations. Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps. The SMAD4 and BMPR1A genes that are involved in 50-60% of JPS cases have not been investigated in the ~ 20 published cases of NF1-associated JLIHMPs with the exception of the abovementioned patient with concomitant JPS and NF1. NF1 defects have been found in the only two cases exhaustively tested. Therefore, JLIHMP has been questioned as an independent, NF1-specific entity. Incidental associations between NF1 and gastrointestinal polyposes at risk for gastrointestinal carcinoma should not be overlooked, given their implications in terms of clinical surveillance. We describe two patients featuring JLIHMPs in clinically/genetically proven NF1, in the absence of SMAD4 and BMPR1A mutations. In one case, the intervening mucosa was markedly inflamed, unlike JPS. We suggest that JLIHMP probably represents a gastrointestinal lesion specific to NF1.
- Identification of a Novel Titin Variant Underlying Myocardial Involvement in Neurofibromatosis Type 1. [Journal Article]
- CJCan J Cardiol 2018; 34(10):1369.e5-1369.e7
- Because of the rare co-occurrence, it remains a question whether cardiomyopathy is a true association of neurofibromatosis type 1. A boy with café-au-lait spots manifested restrictive cardiomyopathy....
Because of the rare co-occurrence, it remains a question whether cardiomyopathy is a true association of neurofibromatosis type 1. A boy with café-au-lait spots manifested restrictive cardiomyopathy. Whole exome sequencing confirmed the genetic diagnosis of neurofibromatosis and further identified a novel titin (TTN) missense variant. The significance of the variant is supported by its de novo origin, in silico predictions, and evolutionary conservation. Modern genetics raises an intriguing explanation for the unexpected phenotype and adds to the evolving role of TTN variants in cardiomyopathy.
- [Multiple hypochromic or achromic macules in children and risk of tuberous sclerosis]. [Journal Article]
- ADAnn Dermatol Venereol 2018 Sep 11
- CONCLUSIONS: No identified characteristics of stains enabled the clinical examination to confirm or rule out tuberous sclerosis. Screening for acute any signs of ST is essential. Diagnostic efficacy is enhanced by additional exams.
- Neurofibromatosis type 1-associated multiple rectal neuroendocrine tumors: A case report and review of the literature. [Review]
- WJWorld J Gastroenterol 2018 Sep 07; 24(33):3806-3812
- Neurofibromatosis type 1 (NF-1) is commonly associated with benign or malignant tumors in both the central and peripheral nervous systems. However, rare cases of NF-1-associated multiple rectal neuro...
Neurofibromatosis type 1 (NF-1) is commonly associated with benign or malignant tumors in both the central and peripheral nervous systems. However, rare cases of NF-1-associated multiple rectal neuroendocrine tumors have been reported. This report describes a case of a 39 year old female with NF-1 and intermittent hematochezia as a primary symptom. Physical examination showed multiple subcutaneous nodules and café au lait spots with obvious scoliosis of the back. Imaging examinations and colonoscopy found malformation of the left external iliac vein and multiple gray-yellow nodules with varying sizes and shapes in the rectal submucosal layer. Histological and immunohistochemical results suggested multiple rectal neuroendocrine tumors, a rare disease with few appreciable symptoms and a particularly poor prognosis. The patient with NF-1 presented here had not only multiple rectal neuroendocrine neoplasms but also vascular malformations, scoliosis and other multiple system lesions. This case therefore contributes to improving clinical understanding, diagnosis and treatment of related complications for patients with NF-1 who present with associated medical conditions.
- Short stature and growth hormone deficiency: unexpected manifestations of McCune-Albright syndrome. [Journal Article]
- BCBMJ Case Rep 2018 Aug 27; 2018
- McCune-Albright syndrome (MAS) is a rare disease characterised by triad of monostotic or polyostotic fibrous dysplasia, café au-lait skin spots and a variety of endocrine disorders; precocious pubert...
McCune-Albright syndrome (MAS) is a rare disease characterised by triad of monostotic or polyostotic fibrous dysplasia, café au-lait skin spots and a variety of endocrine disorders; precocious puberty (PP) being the most common presenting symptom in female patients. Hyperfunction endocrinopathies including hyperthyroidism, growth hormone excess and cortisol excess are typical presentations in MAS. We present a case of 21-year-old woman with clinical and radiological characteristics of MAS triad; she presented with short stature which was attributed to both growth hormone deficiency and PP. Growth hormone deficiency in MAS has not been reported in English medical literature.
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- [A case of growth hormone deficiency combined with neurofibromatosis Type 1 and its gene analysis]. [Case Reports]
- ZNZhong Nan Da Xue Xue Bao Yi Xue Ban 2018 Jul 28; 43(7):811-815
- Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas a...
Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited Third Xiangya Hospital, Central South University due to growth-retardation. He was eventually diagnosed as NF1 with growth hormone deficiency. A novel heterozygous splicing mutation c.6579+2 T>C (IVS 34+2 T>C) of NF1 gene was identified in the patient and his mother. Considering NF1 may present with short stature due to growth hormone deficiency, all children with short stature combined with café au lait spots should be screened for NF1, which may assist the clinical diagnosis and the genetic counseling.