Abstract
Lynch syndrome II was diagnosed when two sisters manifested early-onset synchronous carcinomas of the ovary and endometrium and a third sister was found to have Duke's A carcinoma of the cecum. A detailed cancer family history indicated paternal transmission of the deleterious genotype. The pattern of carcinoma of the colorectum and extracolonic sites throughout the extended family was then found to be consonant with this hereditary cancer-prone disorder. Lynch syndrome II may be exceedingly difficult to diagnose due to an absence of premonitory clinical signs or biomarkers of genotypic susceptibility. Its recognition is therefore dependent on a detailed cancer family history (all anatomic sites), coupled with knowledge of the pattern of the cancer spectrum, distribution, and natural history, as manifested in this hereditary disorder. We describe the decision logic that was involved in the diagnosis of Lynch syndrome II in this family and indicate the important role of the gynecologist in this process.
| Original language | English |
|---|---|
| Pages (from-to) | 198-203 |
| Number of pages | 6 |
| Journal | Gynecologic Oncology |
| Volume | 44 |
| Issue number | 2 |
| DOIs | |
| State | Published - 1992 |
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All Science Journal Classification (ASJC) codes
- Obstetrics and Gynecology
- Oncology
Cite this
Gynecologic cancer clues to Lynch syndrome II diagnosis : A family report. / Lynch, Henry T.; Cavalieri, R. Jennifer; Lynch, Jane F.; Casey, Murray J.
In: Gynecologic Oncology, Vol. 44, No. 2, 1992, p. 198-203.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Gynecologic cancer clues to Lynch syndrome II diagnosis
T2 - A family report
AU - Lynch, Henry T.
AU - Cavalieri, R. Jennifer
AU - Lynch, Jane F.
AU - Casey, Murray J.
PY - 1992
Y1 - 1992
N2 - Lynch syndrome II was diagnosed when two sisters manifested early-onset synchronous carcinomas of the ovary and endometrium and a third sister was found to have Duke's A carcinoma of the cecum. A detailed cancer family history indicated paternal transmission of the deleterious genotype. The pattern of carcinoma of the colorectum and extracolonic sites throughout the extended family was then found to be consonant with this hereditary cancer-prone disorder. Lynch syndrome II may be exceedingly difficult to diagnose due to an absence of premonitory clinical signs or biomarkers of genotypic susceptibility. Its recognition is therefore dependent on a detailed cancer family history (all anatomic sites), coupled with knowledge of the pattern of the cancer spectrum, distribution, and natural history, as manifested in this hereditary disorder. We describe the decision logic that was involved in the diagnosis of Lynch syndrome II in this family and indicate the important role of the gynecologist in this process.
AB - Lynch syndrome II was diagnosed when two sisters manifested early-onset synchronous carcinomas of the ovary and endometrium and a third sister was found to have Duke's A carcinoma of the cecum. A detailed cancer family history indicated paternal transmission of the deleterious genotype. The pattern of carcinoma of the colorectum and extracolonic sites throughout the extended family was then found to be consonant with this hereditary cancer-prone disorder. Lynch syndrome II may be exceedingly difficult to diagnose due to an absence of premonitory clinical signs or biomarkers of genotypic susceptibility. Its recognition is therefore dependent on a detailed cancer family history (all anatomic sites), coupled with knowledge of the pattern of the cancer spectrum, distribution, and natural history, as manifested in this hereditary disorder. We describe the decision logic that was involved in the diagnosis of Lynch syndrome II in this family and indicate the important role of the gynecologist in this process.
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U2 - 10.1016/0090-8258(92)90040-P
DO - 10.1016/0090-8258(92)90040-P
M3 - Article
VL - 44
SP - 198
EP - 203
JO - Gynecologic Oncology
JF - Gynecologic Oncology
SN - 0090-8258
IS - 2
ER -