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Table 2 Cancer tumour tissue histology and the management of malignancies in the proband

From: Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)

Year

Proband’s age

Location

Tumour histology

Stage (Grade)

Management

Aug. 2012

26y9m

Ovaries

Endometrioid adenocarcinoma

FIGO Stage 1c (Grade 2)

Total abdominal hysterectomy with bilateral salpingo-oophorectomy

Oct. 2012

26y10m

Uterus

Endometrioid adenocarcinoma

FIGO 2009 Stage 1a (Grade 1)

Total abdominal hysterectomy with bilateral salpingo-oophorectomy

Dec. 2013

28y0m

Stomach

Gastric Adenocarcinoma

T3N2M0 (Grade 3)

Total gastrectomy with neoadjuvant chemotherapy

  1. The proband has developed multiple malignancies since first presenting at age 24. Her first malignancy (ovarian cancer) was diagnosed less than three years after initial presentation. Despite presenting with bleeding PR, the patient has not yet developed colorectal cancer. Aggressive surgical management was used for her gynaecological malignancies, and a combination of neoadjuvant chemotherapy and surgery was used for her gastric malignancy