Benign and malignant tumors in Down syndrome: Analysis of the 1514 autopsied cases in Japan

Ehara, Hiroaki; Ohno, Kousaku; Ito, Hisao

doi:10.1111/j.1442-200x.2010.03189.x

Cited by 23 publications

(19 citation statements)

References 22 publications

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“…The low rate of breast cancer among women with DS included in our study is consistent with low rates of breast cancer reported in previous studies (e.g., Ehhara et al, 2011;Hasle et al, 2000;Hermon et al, 2001;Satge et al, 2001;Sullivan et al, 2007). We found only two cancers; one being a noninvasive ductal adenocarcinoma in situ and one a phyllodes tumor with borderline malignant potential.…”

Section: Discussionsupporting

confidence: 92%

“…Although 7.3 cases were expected based on data from the general population, no cases of breast cancer were identified from the 2,814 Danish individuals with DS (Hasle et al, 2000). Similar findings have been reported with Australian (Sullivan et al, 2007), Japanese (Ehhara et al, 2011), and Finnish women with DS (Patja et al, 2006).…”

supporting

confidence: 77%

“…Eight patients with 10 benign tumors and 104 patients with malignant tumors were recorded. Of the 104 cases of malignant tumors, 17 (16.3%) cases had solid tumors (Ehhara, Kousaku, & Hisao, 2011). The records of 1,298 people with DS identified from the Disability Services Commission of Western Australia and the State Cancer Registry (725 males, 573 females) showed eight cases of solid tumors compared to 18.3 expected (Sullivan, Hussain, Glasson, & Bittles, 2007).…”

mentioning

confidence: 98%

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Breast Cancer Screening for Women With Down Syndrome: Lessons Learned

Chicoine¹,

Roth²,

Chicoine³

et al. 2015

Intellectual and Developmental Disabilities

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This study examined mammogram reports of women with Down syndrome (DS) treated in the largest medical facility specifically serving adults with DS in the United States. Records of 684 women and results of 993 mammograms were reviewed, including 902 screening and 93 diagnostic mammograms. Only 2 (0.7%) women had a diagnosis of breast cancer. This study found a low rate of breast cancer among women with DS, a finding which is consistent with previous studies. The financial cost per finding was high, the benefit of the mammograms questionable, and the potential for harm greater. With less than 1% of the women with DS in this study developing breast cancer, further discussion is recommended to assess whether mammography is a beneficial, cost-effective part of health maintenance for women with DS.

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Section: Discussionsupporting

confidence: 92%

supporting

confidence: 77%

mentioning

confidence: 98%

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Breast Cancer Screening for Women With Down Syndrome: Lessons Learned

Chicoine¹,

Roth²,

Chicoine³

et al. 2015

Intellectual and Developmental Disabilities

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“…There were eight cases of benign tumours. Only pancreatic tumour was reported, and this was a pancreatic islet cell adenocarcinoma at the age of 45 years (12). …”

Section: Discussionmentioning

confidence: 99%

Recurrent insulinoma in a 10-year-old boy with Down's syndrome

Ahmad

Almutawa

Abubacker

et al. 2017

Endocrinology, Diabetes &Amp; Metabolism Case Reports

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An insulinoma is a rare tumour with an incidence of four cases per million per year in adults. The incidence in children is not established. There is limited literature available in children with insulinoma, and only one case is reported in association with Down’s syndrome in adults. Insulinoma diagnosis is frequently missed in adults as well as in children. The Whipple triad is the most striking feature although it has limited application in young children. Hypoglycaemia with elevated insulin, C-peptide and absent ketones is highly suggestive of hyperinsulinism. We present a case of 10-year-old boy with Down’s syndrome with recurrent insulinoma. He was initially misdiagnosed as having an adrenal insufficiency and developed cushingoid features and obesity secondary to hydrocortisone treatment and excessive sugar intake. The tumour was successfully localised in the head of the pancreas with an MRI and octreotide scan on first presentation. Medical treatment with diazoxide and octreotide could not achieve normal blood glucose levels. The insulinoma was laparoscopically enucleated and pathological examination confirmed a neuroendocrine tumour. Subsequently, he had complete resolution of symptoms. He had a recurrence after 2 years with frequent episodes of hypoglycaemia. The biochemical workup was suggestive of hyperinsulinism. MRI and PET scan confirmed the recurrence at the same site (head of the pancreas). He had an open laparotomy for insulinoma resection. The pathology was consistent with benign insulinoma, and subsequently, he had complete resolution of symptoms.Learning points:Insulinoma is a very rare tumour in children; it should be considered in the differential diagnosis of hypoglycaemia with absent ketones.Refractory neurological symptoms like seizure, migraine, mood changes and regression of learning abilities should suggest evaluation for hypoglycaemia.MRI with contrast and PET scan would localise the majority of pancreatic beta islet cell lesions.Medical treatment with diazoxide, octreotide and the addition of corn starch in feeds is not curative but can be supportive to maintain normoglycemia until the surgical resection.Surgical resection is the only curative treatment. The surgical procedure of choice (laparoscopic/open laparotomy) depends on local expertise, preoperative localisation, tumour size and number.Surgical treatment results in complete resolution of symptoms, but all cases should be closely followed up to monitor for recurrence. The recurrence rate is four times higher in MEN1 cases.

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“…However, Asian patients with DS do not have a lower risk of brain tumors, especially germ cell tumors [2]. Satge et al summarized 38 central nervous system tumors in DS and reported that 14 (61%) of 23 cases under age 15 were germ cell tumors [3].…”

Section: Introductionmentioning

confidence: 99%