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Unusual presentation of Lynch Syndrome.

ABSTRACT: Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic and management challenges.

SUBMITTER: Yu VP

PROVIDER: S-EPMC2696413 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature

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Unusual presentation of Lynch Syndrome.

Yu Veronica P C C VP Novelli Marco M Payne Stewart J SJ Fisher Sam S Barnetson Rebecca A RA Frayling Ian M IM Barrett Ann A Goudie David D Ardern-Jones Audrey A Eeles Ros R Shanley Susan S

Hereditary cancer in clinical practice 20090603 1

Lynch Syndrome/HNPCC is a syndrome of cancer predisposition linked to inherited mutations of genes participating in post-replicative DNA mismatch repair (MMR). The spectrum of cancer associated with Lynch Syndrome includes tumours of the colorectum, endometrium, ovary, upper gastrointestinal tract and the urothelium although other cancers are rarely described. We describe a family of Lynch Syndrome with an hMLH1 mutation, that harbours an unusual tumour spectrum and its diagnostic and management ...[more]

PMID: 19493351

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The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.

Project description:Germline mutations in the mismatch repair (MMR) genes are associated with Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Here, we characterise a variant of hMLH1 that confers a loss-of-function MMR phenotype. The mutation changes the highly conserved Gly67 residue to a glutamate (G67E) and is reminiscent of the hMLH1-p.Gly67Arg mutation, which is present in several Lynch syndrome cohorts. hMLH1-Gly67Arg has previously been shown to confer loss-of-function (Shimodaira et al, 1998), and two functional assays suggest that the hMLH1-Gly67Glu protein fails to sustain normal MMR functions. In the first assay, hMLH1-Gly67Glu abolishes the protein's ability to interfere with MMR in yeast. In the second assay, mutation of the analogous residue in yMLH1 (yMLH1-Gly64Glu) causes a loss-of-function mutator phenotype similar to yMLH1-Gly64Arg. Despite these molecular similarities, an unusual spectrum of tumours is associated with hMLH1-Gly67Glu, which is not typical of those associated with Lynch syndrome and differs from those found in families carrying the hMLH1-Gly67Arg allele. This suggests that hMLH1 may have different functions in certain tissues and/or that additional factors may modify the influence of hMLH1 mutations in causing Lynch syndrome.

| S-EPMC2634701 | biostudies-other

An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome.

Project description:The 3q29 microduplication syndrome is usually associated with an intellectual disability or global developmental delay and mild dysmorphisms. Other comorbid presentations reported in the literature include psychiatric disorders such as behavioral disorders, attention-deficit/hyperactivity disorders, elimination disorders, and autism spectrum disorders. The current case is of an adolescent girl with the 3q29 microduplication syndrome who had a diverse psychiatric presentation. The patient was a 14-year-old girl in institutional care, with a moderate intellectual developmental disorder, major behavioral problems, with auto- and hetero-aggressions and a suspicious trait, who presented with frequent episodes of emotional dysregulation, disorganized speech with derailment, incoherence, perseveration and grossly disorganized behavior. Auditory hallucinations were suspected sometimes but were difficult to evaluate. In our assessment, we were not able to determine a diagnosis because the symptoms do not seem to be defined by any classification. Major pharmacological and non-pharmacological interventions were needed to manage this case.

| S-EPMC7138485 | biostudies-literature

An unusual presentation revealing Peutz-Jeghers syndrome in adult.

Project description:IntroductionPeutz-Jeghers syndrome (PJS) is a rare hereditary disease characterized by hyperpigmentation on the lips and oral cavity and gastrointestinal hamartomatous polyps. The most common complications in PJS patients are bleeding, bowel obstruction and intussusception.Presentation of caseWe hereby report a case of a 33-year-old female, without a family history of the disease, who presented to the emergency room with acute abdominal pain, bloating and not passing gas. On abdominal examination, upper abdominal and periumbilical tenderness was found. Computed tomography (CT) of the abdomen demonstrated suspected ascending colon intussusception. The patient underwent a mid-line laparotomy that showed an ileocolic intussusception. Reduction of this intussusception was successfully done with resection of the affected segment that showed presence of two pedunculated polyps. The specimen was sent thereafter to our department for histopathological evaluation, which confirmed the diagnosis of hamartomatous Peutz-Jeghers polyps with no malignancy. Afterwards, the patient was carefully reexamined and the physical examination revealed multiple pigmented spots on the face and lips. Thus, the diagnosis of Peutz-Jeghers syndrome was made.DiscussionPJS is a rare autosomal dominant disorder that often remain undiagnosed for many years. Acute complications such as intestinal obstruction secondary to intussusception is one of infrequent revealing symptoms.ConclusionEarly identification, in patients with PJS and family members, as well as close cancer surveillance can improve certainly prognosis in these individuals.

| S-EPMC7486423 | biostudies-literature

Herlyn-Werner-Wunderlich syndrome: An unusual presentation with pyocolpos.

Project description:Herlyn-Werner-Wunderlich syndrome is a rare congenital anomaly of the urogenital tract, which is characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. It usually presents at puberty with pelvic pain, dysmenorrhea, and a vaginal or pelvic mass. Although rare, it may present with purulent vaginal discharge due to secondary infection of the obstructed hemivagina, making diagnosis difficult. A careful pelvic examination to identify the cervix and vagina is the key to the diagnosis of Müllerian duct anomalies and magnetic resonance imaging can provide additional useful information. The optimal treatment is full excision and marsupialization of the obstructing vaginal septum so that both uteri can drain through the patent vagina. The authors report a case of a 22-year-old female with an unusual presentation of Herlyn-Werner-Wunderlich syndrome complicated by pyocolpos, which was successfully managed by vaginal septum resection and drainage of pus.

| S-EPMC5547086 | biostudies-other

Unusual presentation of benzodiazepine withdrawal with Takotsubo syndrome: a case report

Project description: Not available

| S-EPMC10996924 | biostudies-literature

Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome.

Project description:Lynch syndrome (LS), the most common hereditary colorectal cancer syndrome, is caused by mismatch repair (MMR) gene mutations. However, data about MMR mutations in Hispanics are limited. This study aims to describe the spectrum of MMR mutations in Hispanics with LS and explore ancestral origins. This case series involved an IRB-approved retrospective chart review of self-identified Hispanic patients (n = 397) seen for genetic cancer risk assessment at four collaborating academic institutions in California, Texas, and Puerto Rico who were evaluated by MMR genotyping and/or tumor analysis. A literature review was conducted for all mutations identified. Of those who underwent clinical genetic testing (n = 176), 71 had MMR gene mutations. Nine mutations were observed more than once. One third (3/9) of recurrent mutations and two additional mutations (seen only once) were previously reported in Spain, confirming the influence of Spanish ancestry on MMR mutations in Hispanic populations. The recurrent mutations identified (n = 9) included both previously reported mutations as well as unique mutations not in the literature. This is the largest report of Hispanic MMR mutations in North America; however, a larger sample and haplotype analyses are needed to better understand recurrent MMR mutations in Hispanic populations.

| S-EPMC8800930 | biostudies-literature

Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome.

Project description:Chromosome 1q21.1 deletion syndrome is associated with a wide variety of clinical features including mild to moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts. We report an unusual case of a premature neonate with persistent hyponatremia, markedly elevated plasma arginine vasopressin level (32.7 pg/mL), and clinical findings consistent with the syndrome of inappropriate antidiuretic hormone secretion (SIADH). The patient, who also had microcephaly and dextrocardia, was subsequently diagnosed with chromosome 1q21.1 deletion syndrome. Further evaluation revealed hypothalamic abnormalities, features not previously described with this syndrome. To our knowledge, this is the first report of SIADH associated with congenital hypothalamic anomalies in a neonate with chromosome 1q21.1 deletion syndrome. We also report our experience using tolvaptan, a vasopressin receptor antagonist, in this patient to effectively maintain eunatremia.

| S-EPMC6193093 | biostudies-literature

A VPS13B mutation in Cohen syndrome presented with petechiae: An unusual presentation.

Project description:Cohen syndrome (CS) is a rare autosomal recessive disorder. CS includes a range of clinical symptoms including retinal dystrophy and myopia. The new VPS13B mutation could cause CS-induced neutropenia and petechiae in patients with CS.

| S-EPMC8301562 | biostudies-literature

Surgical treatment of intestinal perforation in Behcet Syndrome: an unusual presentation.

Project description:Behçet syndrome is a chronic, recurring, systemic disorder characterized by the histopathologic finding of nonspecific vasculitis in multiple organs. Behçet syndrome involves the gastrointestinal tract in 10-50% of patients; The main sites of involvement are the terminal ileum and cecum. In patients with Behçet syndrome, CT is advocated for early detection of complications as well as for exclusion of other abdominal pathologic conditions but there is no specific exam. The report of histology in conjunction with the clinical history and the presence of oral ulcers, uveitis and suspected cutaneous lesions suggests the diagnosis. The optimal medical treatment of Behçet syndrome has not yet been well established. In rare cases surgery must be required to control the disease. The authors report one case of Behcet Syndrome presenting with intestinal perforation.

| S-EPMC6295296 | biostudies-other

Unusual presentation of antisynthetase syndrome: a case series and review of the literature.

Project description:BackgroundAntisynthetase syndrome is an inflammatory myopathy that is characterized by the presence of anti-aminoacyl-tRNA synthetase antibodies. Only 30% of those who suffer from the disease can be identified. We present three Hispanic cases of antisynthetase syndrome with unusual clinical pictures were extended myositis panel results enable disease diagnosis and treatment.Case presentationA 57-year-old Hispanic/Latino female with an erythematous scaly plaque, unresolved fever and non-immune haemolytic anaemia in whom inpatient work-up for fever of unknown origin was positive for anti-PL12 positive myositis extended panel. A 72-year-old Hispanic/Latino male with amyopathic weakness syndrome and mechanic hands in whom impatient work-up was relevant for proximal muscle uptake and anti-PM75 and AntiPL-12 myositis extended panel. And a 67-year-old Hispanic/Latino male with progressive interstitial lung disease and unresolved fever ended in myositis extended panel positive for antiPL-7. After systemic immunosuppressor treatment, patients had favourable clinical and paraclinical responses during outpatient follow-up.ConclusionsThe high variability of the antisynthetase syndrome in these cases demonstrates the importance of identification through an expanded panel and highlights the probability that this is a variable disease and that we need to include emerging molecular tests to promote the timely treatment of patients.

| S-EPMC10387198 | biostudies-literature

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